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
XIRP2	129446	broad.mit.edu	37	2	168102825	168102825	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:168102825A>G	ENST00000409195.1	+	9	5012	c.4923A>G	c.(4921-4923)ttA>ttG	p.L1641L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1419L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.L1641L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1466					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						CTCAATTATTAAACAGATCAA	0.328000													8	30					0	0	0.000157383	0	0
AICDA	57379	broad.mit.edu	37	12	8757850	8757850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:8757850G>A	ENST00000229335.6	-	3	491	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	AICDA_ENST00000537228.1_Missense_Mutation_p.H130Y	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	130					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CCGGCGCGGTGCAGCCGCCGC	0.647000													22	23					0	0	0.000720815	0	0
ATP13A4	84239	broad.mit.edu	37	3	193171990	193171990	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:193171990A>C	ENST00000342695.4	-	17	2249	c.1927T>G	c.(1927-1929)Ttt>Gtt	p.F643V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.F624V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	643					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)		TCGCTAACAAAACTAGTGGGT	0.433000													8	89					0	0	0.000157383	0	0
WDR72	256764	broad.mit.edu	37	15	53907901	53907901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:53907901C>G	ENST00000396328.1	-	15	2741	c.2502G>C	c.(2500-2502)ttG>ttC	p.L834F	WDR72_ENST00000559418.1_Missense_Mutation_p.L844F|WDR72_ENST00000557913.1_Missense_Mutation_p.L831F|WDR72_ENST00000360509.5_Missense_Mutation_p.L834F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	834										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TATCTTCATTCAAAGAAATTC	0.343000													9	75					0	0	0.000274275	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249308	43249308	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr18:43249308A>C	ENST00000255226.6	+	16	2890	c.2074A>C	c.(2074-2076)Aag>Cag	p.K692Q	SLC14A2_ENST00000586448.1_Missense_Mutation_p.K692Q|SLC14A2_ENST00000589658.1_Missense_Mutation_p.K169Q	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	692						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCTTCAGCAAGTGGGACCT	0.552000													8	132					0	0	0.000442599	0	0
ACTC1	70	broad.mit.edu	37	15	35086901	35086901	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:35086901C>T	ENST00000290378.4	-	2	764	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	37					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGGCGGCCCACGATGGACGGG	0.687000													9	25					0	0	0.000673444	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793680	100793680	+	Silent	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:100793680C>G	ENST00000361529.3	+	4	378	c.300C>G	c.(298-300)ctC>ctG	p.L100L	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	100					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						ACATCACGCTCTCGGGATGCG	0.662000													16	60					0	0	0.00074312	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530532	84530532	+	RNA	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:84530532C>T	ENST00000527857.1	+	0	554					NR_026851.1																						CTTCCACCCCCTCAGCAACCA	0.527000													16	46					0	0	0.000566183	0	0
ERBB3	2065	broad.mit.edu	37	12	56478837	56478837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:56478837C>G	ENST00000267101.3	+	3	733	c.293C>G	c.(292-294)cCa>cGa	p.P98R	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P39R|ERBB3_ENST00000411731.2_Missense_Mutation_p.P98R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	98					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCTACTCTACCATTGCCCAAC	0.507000													6	112					0	0	0.00116845	0	0
CFI	3426	broad.mit.edu	37	4	110687902	110687902	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr4:110687902C>T	ENST00000394634.2	-	2	343	c.136G>A	c.(136-138)Gtc>Atc	p.V46I	CFI_ENST00000510800.1_Missense_Mutation_p.V46I|CFI_ENST00000512148.1_Missense_Mutation_p.V46I|CFI_ENST00000394635.3_Missense_Mutation_p.V46I	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	46					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGGCAGAAGACTTTATCGCAG	0.428000													4	46					0	0	0.00024832	0	0
HPX	3263	broad.mit.edu	37	11	6452915	6452915	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:6452915G>A	ENST00000265983.3	-	9	1185	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GATAAAGGCCGCATCCACAGA	0.557000													38	24					0	0	0.000814825	0	0
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr22:22127164C>A	ENST00000215832.6	-	7	1152	c.964G>T	c.(964-966)Gag>Tag	p.E322*	MAPK1_ENST00000544786.1_Nonsense_Mutation_p.E278*|MAPK1_ENST00000398822.3_Nonsense_Mutation_p.E322*	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478000													33	55					1.22384e-17	1.03309e-16	0.000491102	1	0
OR52N4	390072	broad.mit.edu	37	11	5776833	5776833	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:5776833C>A	ENST00000317254.3	+	1	911	c.863C>A	c.(862-864)cCc>cAc	p.P288H	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTCCTACCACCCACTATGAAC	0.448000													41	31					6.2361e-21	5.41347e-20	0.000319135	1	0
IQCH	64799	broad.mit.edu	37	15	67687836	67687836	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:67687836C>T	ENST00000335894.4	+	13	1906	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C	IQCH_ENST00000360277.4_Intron|IQCH_ENST00000358767.3_Intron|IQCH_ENST00000546225.1_Intron	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	614										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGGAGGCAAACGTGTCTTTGA	0.448000													9	68					0	0	0.000274275	0	0
STARD3NL	83930	broad.mit.edu	37	7	38247206	38247206	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:38247206T>A	ENST00000009041.7	+	2	358	c.101T>A	c.(100-102)aTg>aAg	p.M34K	STARD3NL_ENST00000544203.1_Missense_Mutation_p.M27K|STARD3NL_ENST00000434197.1_Missense_Mutation_p.M34K|STARD3NL_ENST00000396013.1_Missense_Mutation_p.M34K	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	34						integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ACACAACTCATGGCCAGGATT	0.483000													39	23					0	0	0.000374591	0	0
TTN	7273	broad.mit.edu	37	2	179640223	179640223	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:179640223C>T	ENST00000589042.1	-	28	6592	c.6368G>A	c.(6367-6369)cGg>cAg	p.R2123Q	TTN_ENST00000360870.5_Missense_Mutation_p.R2123Q|TTN_ENST00000591111.1_Missense_Mutation_p.R2123Q|TTN_ENST00000359218.5_Missense_Mutation_p.R2077Q|TTN_ENST00000342992.6_Missense_Mutation_p.R2123Q|TTN_ENST00000460472.2_Missense_Mutation_p.R2077Q|TTN_ENST00000342175.6_Missense_Mutation_p.R2077Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1886	Ig-like 10.						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)			CCAGTAGATCCGGTCAGACCG	0.483000													16	38					0	0	0.000308642	0	0
RYR1	6261	broad.mit.edu	37	19	39019040	39019040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:39019040C>T	ENST00000355481.4	+	73	11035	c.10904C>T	c.(10903-10905)cCc>cTc	p.P3635L	RYR1_ENST00000360985.3_Missense_Mutation_p.P3640L|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000359596.3_Missense_Mutation_p.P3640L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3640					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGTATGACGCCCCTGTACAAC	0.612000													7	60					0	0	8.12818e-05	0	0
JUP	3728	broad.mit.edu	37	17	39927914	39927914	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:39927914C>G	ENST00000393931.3	-	2	311	c.193G>C	c.(193-195)Gtg>Ctg	p.V65L	JUP_ENST00000540235.1_Missense_Mutation_p.V65L|JUP_ENST00000310706.5_Missense_Mutation_p.V65L|JUP_ENST00000393930.1_Missense_Mutation_p.V65L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	65					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTGGGGGGCACCCCCTGGGTG	0.612000													17	37					0	0	0.000566183	0	0
CELA3B	23436	broad.mit.edu	37	1	22313089	22313089	+	Silent	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:22313089C>G	ENST00000337107.6	+	7	727	c.708C>G	c.(706-708)acC>acG	p.T236T	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	236	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ATGGCGTGACCAGCTTTGTTT	0.607000													11	30					0	0	0.000673444	0	0
FDXACB1	91893	broad.mit.edu	37	11	111746387	111746387	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:111746387C>A	ENST00000260257.4	-	5	1181	c.1134G>T	c.(1132-1134)caG>caT	p.Q378H	FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q229H|ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	378					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TGTGGCACTTCTGAAAGACAG	0.443000													13	213					0.00010058	0.000769436	0.00010058	1	0
CRB1	23418	broad.mit.edu	37	1	197390386	197390386	+	Silent	SNP	C	C	T	rs62636282	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:197390386C>T	ENST00000367400.3	+	6	1563	c.1428C>T	c.(1426-1428)acC>acT	p.T476T	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.T364T|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000535699.1_Silent_p.T407T|CRB1_ENST00000543483.1_Silent_p.T175T|CRB1_ENST00000538660.1_Silent_p.T476T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	476	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGGCTACACCGGGTCCCTGT	0.502000													12	57					0	0	0.000151284	0	0
BCL9	607	broad.mit.edu	37	1	147092754	147092754	+	Silent	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:147092754T>A	ENST00000234739.3	+	8	3533	c.2793T>A	c.(2791-2793)ccT>ccA	p.P931P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	931	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCCGTCACCTGGATGGACCT	0.582000			T	"""IGH@, IGL@"""	B-ALL								17	114					0	0	0.000566183	0	0
CD1C	911	broad.mit.edu	37	1	158262428	158262428	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:158262428C>T	ENST00000368170.3	+	4	932	c.653C>T	c.(652-654)tCt>tTt	p.S218F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	218	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGCCTTGGGTCTGGCCAGCTG	0.522000													6	66					0	0	0.00116845	0	0
CACNA1A	773	broad.mit.edu	37	19	13414674	13414674	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:13414674C>T	ENST00000360228.5	-	16	2010	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E672K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	672					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TACATGACCTCGTTCCAGTCT	0.577000													14	143					0	0	0.000151284	0	0
HCN1	348980	broad.mit.edu	37	5	45262058	45262058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr5:45262058C>T	ENST00000303230.4	-	8	2695	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	880						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTCTGCGTCTGGGTCTGTG	0.483000													7	161					0	0	0.000157383	0	0
ADAM2	2515	broad.mit.edu	37	8	39624380	39624380	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:39624380G>A	ENST00000265708.4	-	14	1597	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	ADAM2_ENST00000521880.1_Silent_p.D498D|ADAM2_ENST00000347580.4_Silent_p.D479D|ADAM2_ENST00000379853.2_Silent_p.D372D	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	498	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGCCAAATGTGTCTGTACATT	0.363000													10	71					0	0	0.000978159	0	0
BTK	695	broad.mit.edu	37	X	100617676	100617676	+	Splice_Site	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:100617676T>A	ENST00000308731.7	-	6	556	c.391_splice	c.e6-1	p.V131_splice	BTK_ENST00000372880.1_Splice_Site_p.V131_splice	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	131	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTACCGGATTACTGTAGCAG	0.458000									Agammaglobulinemia, X-linked				6	95					0	0	0.00116845	0	0
RP1	6101	broad.mit.edu	37	8	55534743	55534743	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:55534743A>T	ENST00000220676.1	+	3	830	c.682A>T	c.(682-684)Aaa>Taa	p.K228*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	228	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAGCCATTTAAACCAGGAAA	0.493000													12	21					0	0	0.00010058	0	0
SYT9	143425	broad.mit.edu	37	11	7324589	7324589	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:7324589G>A	ENST00000318881.6	+	2	702	c.465G>A	c.(463-465)caG>caA	p.Q155Q	SYT9_ENST00000396716.2_Silent_p.Q123Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	155						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCCGCGTGCAGCGCCAAGTCA	0.597000													12	15					0	0	0.000978159	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													4	13					0	0	0.000602214	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027454	86027454	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:86027454G>A	ENST00000414626.2	+	4	1493	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	LRRCC1_ENST00000360375.3_Missense_Mutation_p.G222S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	222	LRRCT.				cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GTGCCTAGAAGGTCTTTTGGA	0.328000													27	42					0	0	0.000279167	0	0
GMIP	51291	broad.mit.edu	37	19	19749068	19749068	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:19749068C>T	ENST00000203556.4	-	9	826	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GMIP_ENST00000587238.1_Missense_Mutation_p.R230H|GMIP_ENST00000445806.2_Missense_Mutation_p.R230H	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	230					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCCTGGGAGCGTGCCCGCAG	0.716000													13	16					0	0	0.000219431	0	0
GABRR1	2569	broad.mit.edu	37	6	89926972	89926972	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:89926972T>A	ENST00000435811.1	-	1	524	c.70A>T	c.(70-72)Agc>Tgc	p.S24C	GABRR1_ENST00000369451.3_Intron|GABRR1_ENST00000481493.1_5'UTR|GABRR1_ENST00000454853.2_Missense_Mutation_p.S24C	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	24					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGCATTCTGCTTTCAGTGGCC	0.463000													11	34					0	0	0.000219431	0	0
KLKB1	3818	broad.mit.edu	37	4	187155200	187155200	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr4:187155200C>T	ENST00000264690.6	+	4	503	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.H106Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	106					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCAATGTGGTCATCAAATAAG	0.383000													6	30					0	0	0.00116845	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	44					0	0	0.000602214	0	0
GABRG2	2566	broad.mit.edu	37	5	161580208	161580208	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr5:161580208A>G	ENST00000356592.3	+	10	1722	c.1262A>G	c.(1261-1263)gAc>gGc	p.D421G	GABRG2_ENST00000361925.4_Missense_Mutation_p.D413G|GABRG2_ENST00000414552.2_Missense_Mutation_p.D461G|GABRG2_ENST00000393933.4_Missense_Mutation_p.D318G	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	413					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACGGCAAGGACTGTGCCAGT	0.458000													10	61					0	0	0.000442599	0	0
GLI3	2737	broad.mit.edu	37	7	42065866	42065866	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:42065866G>T	ENST00000395925.3	-	8	1258	c.1174C>A	c.(1174-1176)Cct>Act	p.P392T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	392					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						CCTGGAATAGGCCTCTGTGTT	0.587000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				10	10					4.68919e-08	3.80104e-07	0.000673444	1	0
PARP14	54625	broad.mit.edu	37	3	122418794	122418794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:122418794C>A	ENST00000474629.2	+	6	1659	c.1393C>A	c.(1393-1395)Caa>Aaa	p.Q465K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGGGAAGAGCAAAGTTTGAA	0.403000													30	27					2.12542e-12	1.75778e-11	0.00106085	1	0
OR4K1	79544	broad.mit.edu	37	14	20404652	20404652	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:20404652C>G	ENST00000285600.4	+	1	886	c.827C>G	c.(826-828)aCt>aGt	p.T276S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGTTCTACACTGTTTGTACT	0.428000													10	332					0	0	0.00010058	0	0
TTC40	54777	broad.mit.edu	37	10	134660723	134660723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:134660723C>T	ENST00000368586.5	-	42	6155	c.6055G>A	c.(6055-6057)Gag>Aag	p.E2019K	TTC40_ENST00000263170.5_Missense_Mutation_p.E180K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	180										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGTGCTCCTCCGGGGCTGCC	0.697000													19	52					0	0	0.00074312	0	0
TMSB10	9168	broad.mit.edu	37	2	85133166	85133166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:85133166G>A	ENST00000233143.4	+	2	134	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN	thymosin beta 10	9					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			endometrium(1)	1						AGACATGGGGGAAATCGCCAG	0.582000													23	31					0	0	0.000375601	0	0
AGTR2	186	broad.mit.edu	37	X	115304382	115304382	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:115304382G>C	ENST00000371906.4	+	3	1039	c.849G>C	c.(847-849)tgG>tgC	p.W283C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	283					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						CTCTGGCCTGGATGGGTGTCA	0.507000													11	84					0	0	0.000673444	0	0
ADAM10	102	broad.mit.edu	37	15	58933155	58933155	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:58933155T>C	ENST00000260408.3	-	8	1276	c.833A>G	c.(832-834)aAt>aGt	p.N278S	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	278	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AGCAGTTGTATTGATCTAAAA	0.373000													3	38					0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9045870	9045870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:9045870C>A	ENST00000397910.4	-	5	35964	c.35761G>T	c.(35761-35763)Gaa>Taa	p.E11921*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11923	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGGTTTCTGTGTTCCAG	0.498000													50	92					1.07234e-20	9.2433e-20	0.000781405	1	0
NES	10763	broad.mit.edu	37	1	156640375	156640375	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:156640375G>A	ENST00000368223.3	-	4	3737	c.3605C>T	c.(3604-3606)cCt>cTt	p.P1202L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1202	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGAGGCCAAGGTGAAGGGGC	0.647000													5	104					0	0	0.000602214	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885295	88885295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:88885295G>A	ENST00000319675.3	-	1	1001	c.905C>T	c.(904-906)aCt>aTt	p.T302I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	302										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TACACATTTAGTGGCCCTCAA	0.512000													21	29					0	0	0.000175454	0	0
MUC15	143662	broad.mit.edu	37	11	26587444	26587444	+	Splice_Site	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:26587444C>T	ENST00000436318.2	-	2	177		c.e2-1		MUC15_ENST00000529533.1_Splice_Site|MUC15_ENST00000455601.2_Splice_Site|MUC15_ENST00000281268.8_Splice_Site|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Splice_Site|ANO3_ENST00000531568.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated							extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTAAAGGAATCTGAAAGAAAA	0.274000													9	32					0	0	0.000274275	0	0
SARDH	1757	broad.mit.edu	37	9	136573442	136573442	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:136573442G>A	ENST00000371872.4	-	11	1694	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	SARDH_ENST00000439388.1_Silent_p.A479A|SARDH_ENST00000422262.2_Silent_p.A311A	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	479					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGTTGCGCCCGGCCAGCGGCT	0.657000													7	73					0	0	0.000157383	0	0
PEX2	5828	broad.mit.edu	37	8	77896342	77896342	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:77896342G>T	ENST00000419564.2	-	4	537	c.73C>A	c.(73-75)Cta>Ata	p.L25I	PEX2_ENST00000522527.1_Missense_Mutation_p.L25I|PEX2_ENST00000520103.1_Missense_Mutation_p.L25I|PEX2_ENST00000357039.4_Missense_Mutation_p.L25I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	25					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						GCCTTGTTTAGTTCAAGTGCA	0.458000													6	87					3.59834e-05	0.000278757	0.00116845	1	0
HEY2	23493	broad.mit.edu	37	6	126080849	126080849	+	Silent	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:126080849G>T	ENST00000368364.3	+	5	1112	c.915G>T	c.(913-915)ccG>ccT	p.P305P	HEY2_ENST00000368365.1_Silent_p.P259P	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	305					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCATCAGCCCGCCCTTGTCAG	0.597000													54	103					4.6707e-30	4.08353e-29	0.000781405	1	0
RBM6	10180	broad.mit.edu	37	3	50103889	50103889	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:50103889A>T	ENST00000443081.1	+	17	3420	c.2501A>T	c.(2500-2502)aAt>aTt	p.N834I	RBM6_ENST00000266022.4_Missense_Mutation_p.N966I|RBM6_ENST00000539992.1_Missense_Mutation_p.N308I|RBM6_ENST00000442092.1_Missense_Mutation_p.N444I|RBM6_ENST00000422955.1_Missense_Mutation_p.N444I|RBM6_ENST00000421682.1_5'UTR			P78332	RBM6_HUMAN	RNA binding motif protein 6	966					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGTTTCCCAATAAAGAAGTT	0.478000													50	65					0	0	0.000781405	0	0
CDH11	1009	broad.mit.edu	37	16	65026844	65026844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:65026844G>A	ENST00000394156.3	-	5	1070	c.617C>T	c.(616-618)cCc>cTc	p.P206L	CDH11_ENST00000566827.1_Missense_Mutation_p.P80L|CDH11_ENST00000268603.4_Missense_Mutation_p.P206L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	206	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGAAAAATAGGGTTGTCCTTC	0.443000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			5	52					0	0	0.000602214	0	0
ZNF20	7568	broad.mit.edu	37	19	12244792	12244792	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:12244792C>T	ENST00000334213.5	-	4	433	c.209G>A	c.(208-210)aGa>aAa	p.R70K	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GAGTTTCTCTCTCATAAGACT	0.413000													19	54					0	0	0.000958276	0	0
FOXB1	27023	broad.mit.edu	37	15	60297874	60297874	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:60297874T>C	ENST00000396057.4	+	2	1191	c.712T>C	c.(712-714)Tac>Cac	p.Y238H	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	238					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GAGTGGCGACTACAGCGCCTA	0.706000													9	11					0	0	0.000442599	0	0
GPX4	2879	broad.mit.edu	37	19	1105714	1105714	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:1105714G>C	ENST00000354171.8	+	4	489	c.382G>C	c.(382-384)Gat>Cat	p.D128H	GPX4_ENST00000589115.1_Missense_Mutation_p.D128H	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN	glutathione peroxidase 4	128					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glutathione(DB00143)	CGTCAAATTCGATATGTTCAG	0.587000													5	13					0	0	0.000602214	0	0
ANKS1B	56899	broad.mit.edu	37	12	100173680	100173680	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:100173680C>T	ENST00000547776.2	-	6	815	c.816G>A	c.(814-816)caG>caA	p.Q272Q	ANKS1B_ENST00000329257.7_Silent_p.Q272Q|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	272						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGAGAGATTTCTGAGATGGAT	0.343000													31	64					0	0	0.00111076	0	0
HEY2	23493	broad.mit.edu	37	6	126080846	126080846	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:126080846C>T	ENST00000368364.3	+	5	1109	c.912C>T	c.(910-912)agC>agT	p.S304S	HEY2_ENST00000368365.1_Silent_p.S258S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	304					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGCCATCAGCCCGCCCTTGT	0.607000													56	103					0	0	0.000781405	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022971	131022971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:131022971G>A	ENST00000421699.2	-	17	1462	c.1450C>T	c.(1450-1452)Caa>Taa	p.Q484*		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	484						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACCTGGGCTTGAAGCTGTCCT	0.682000													23	54					0	0	0.000229342	0	0
ADCK4	79934	broad.mit.edu	37	19	41209448	41209448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:41209448G>A	ENST00000324464.3	-	9	1098	c.797C>T	c.(796-798)gCg>gTg	p.A266V	ADCK4_ENST00000450541.1_Missense_Mutation_p.A225V|ADCK4_ENST00000243583.6_Missense_Mutation_p.A225V	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	266	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CGCCTCACCCGCGGGCAGGGC	0.647000													11	5					0	0	0.00010058	0	0
GBX1	2636	broad.mit.edu	37	7	150846025	150846025	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:150846025G>T	ENST00000297537.4	-	2	742	c.743C>A	c.(742-744)gCa>gAa	p.A248E		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	248						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCACCGGTGCCCCCTCCTC	0.597000													15	161					1.52009e-12	1.26571e-11	0.000308642	1	0
ADAM10	102	broad.mit.edu	37	15	58971446	58971446	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:58971446C>G	ENST00000260408.3	-	4	804	c.361G>C	c.(361-363)Gat>Cat	p.D121H	ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	121					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AATCTTCCATCAATAACAGAC	0.358000													4	42					0	0	0.00024832	0	0
ABCB4	5244	broad.mit.edu	37	7	87069068	87069068	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:87069068C>A	ENST00000265723.4	-	14	1757	c.1646G>T	c.(1645-1647)cGc>cTc	p.R549L	ABCB4_ENST00000359206.3_Missense_Mutation_p.R549L|ABCB4_ENST00000358400.3_Missense_Mutation_p.R549L|ABCB4_ENST00000545634.1_Missense_Mutation_p.R549L|ABCB4_ENST00000453593.1_Missense_Mutation_p.R549L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	549	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTGGGGTTGCGAACCAGGGC	0.532000													8	131					0.000274275	0.00208517	0.000274275	1	0
TREML2	79865	broad.mit.edu	37	6	41166104	41166104	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:41166104T>G	ENST00000483722.1	-	2	304	c.119A>C	c.(118-120)cAg>cCg	p.Q40P		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	40	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATAGGAGCACTGCACAGACAG	0.502000													8	169					0	0	0.000274275	0	0
FCRL1	115350	broad.mit.edu	37	1	157776893	157776893	+	Splice_Site	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:157776893G>A	ENST00000358292.3	-	2	102	c.52_splice	c.e2+1	p.A17_splice	FCRL1_ENST00000368176.3_Splice_Site_p.A17_splice|FCRL1_ENST00000491942.1_Splice_Site_p.A17_splice	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	17	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAACTCACCGGCAGGTTCAC	0.483000													15	73					0	0	0.00074312	0	0
DLG3	1741	broad.mit.edu	37	X	69673592	69673592	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:69673592A>G	ENST00000194900.4	+	9	1646	c.1305A>G	c.(1303-1305)ggA>ggG	p.G435G	DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000374360.3_Silent_p.G417G|DLG3-AS1_ENST00000431103.1_RNA|DLG3_ENST00000374355.3_Silent_p.G80G			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	417	PDZ 3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TCCTGGCAGGAGGCCCAGCTG	0.567000													2	6					0	0	6.4e-05	0	0
BCAN	63827	broad.mit.edu	37	1	156616600	156616600	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:156616600C>T	ENST00000329117.4	+	3	435	c.99C>T	c.(97-99)cgC>cgT	p.R33R	BCAN_ENST00000361588.5_Silent_p.R33R|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	33					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGAGGACCGCGCTTTTCGCG	0.697000													5	20					0	0	0.000602214	0	0
SH2D4B	387694	broad.mit.edu	37	10	82329963	82329963	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:82329963G>T	ENST00000339284.2	+	2	668	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	SH2D4B_ENST00000470604.2_Missense_Mutation_p.V79F|SH2D4B_ENST00000313455.4_Missense_Mutation_p.V31F	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	79										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CGAGGTCTGGGTCTGGATCAT	0.532000													31	45					2.85442e-18	2.44322e-17	0.000339439	1	0
NALCN	259232	broad.mit.edu	37	13	101726002	101726002	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr13:101726002T>A	ENST00000251127.6	-	37	4212	c.4131A>T	c.(4129-4131)aaA>aaT	p.K1377N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1377						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGGTAATAGCTTTTCCAGCCG	0.353000													4	26					0	0	0.00024832	0	0
CNTN6	27255	broad.mit.edu	37	3	1415634	1415634	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:1415634T>C	ENST00000446702.2	+	16	2599	c.1972T>C	c.(1972-1974)Tac>Cac	p.Y658H	CNTN6_ENST00000539053.1_Missense_Mutation_p.Y586H|CNTN6_ENST00000350110.2_Missense_Mutation_p.Y658H			Q9UQ52	CNTN6_HUMAN	contactin 6	658	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGTAAGACATACAATGCAAC	0.383000													3	26					0	0	0.00024832	0	0
EYA4	2070	broad.mit.edu	37	6	133783512	133783512	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:133783512A>G	ENST00000367895.5	+	8	941	c.477A>G	c.(475-477)acA>acG	p.T159T	EYA4_ENST00000355286.6_Silent_p.T136T|EYA4_ENST00000531901.1_Silent_p.T159T|EYA4_ENST00000525849.1_Silent_p.T136T|EYA4_ENST00000431403.2_Silent_p.T159T|EYA4_ENST00000430974.2_Silent_p.T105T|EYA4_ENST00000452339.2_Silent_p.T105T|EYA4_ENST00000355167.3_Silent_p.T159T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	159					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGCTCAAACAATGTCTGCCT	0.478000													27	98					0	0	0.000720815	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747877	126747877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:126747877G>T	ENST00000393409.2	+	25	4711	c.4711G>T	c.(4711-4713)Gag>Tag	p.E1571*	PLXNA1_ENST00000251772.4_Nonsense_Mutation_p.E1548*	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1571					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGCAGGACGAGGACGTCAC	0.657000													16	40					3.57192e-18	3.03613e-17	0.00074312	1	0
MKI67	4288	broad.mit.edu	37	10	129903164	129903164	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:129903164C>G	ENST00000368654.3	-	13	7315	c.6940G>C	c.(6940-6942)Gaa>Caa	p.E2314Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E1954Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2314	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAGGTCTTCTAGAGCCTGG	0.493000													63	269					0	0	0.000781405	0	0
OBP2B	29989	broad.mit.edu	37	9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	rs1132279		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612000													3	46					0	0	6.4e-05	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880416	105880416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:105880416G>A	ENST00000301919.4	-	3	2299	c.884C>T	c.(883-885)aCa>aTa	p.T295I	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	295						nucleus											TAACTTCTCTGTTTCTATGTC	0.408000													12	134					0	0	0.000308642	0	0
CCDC108	255101	broad.mit.edu	37	2	219888039	219888039	+	Missense_Mutation	SNP	G	G	A	rs138095762		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:219888039G>A	ENST00000341552.5	-	16	2793	c.2710C>T	c.(2710-2712)Cgc>Tgc	p.R904C	CCDC108_ENST00000453220.1_Missense_Mutation_p.R904C|CCDC108_ENST00000441968.1_Missense_Mutation_p.R904C	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	904	MSP.					integral to membrane	structural molecule activity	p.R904C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGGGTTGCGGAAGGTGAAG	0.637000													9	23					0	0	0.000442599	0	0
SERPINH1	871	broad.mit.edu	37	11	75280100	75280100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:75280100C>T	ENST00000524558.1	+	4	2273	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	SERPINH1_ENST00000533603.1_Missense_Mutation_p.R280C|SERPINH1_ENST00000358171.3_Missense_Mutation_p.R280C|SERPINH1_ENST00000530284.1_Missense_Mutation_p.R280C|SERPINH1_ENST00000525876.1_Missense_Mutation_p.R63C			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	280					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GCCTCTCGAGCGCCTTGAAAA	0.562000													27	33					0	0	0.000720815	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265032	67265032	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:67265032C>T	ENST00000356404.3	-	13	2126	c.1901G>A	c.(1900-1902)aGc>aAc	p.S634N	PITPNM1_ENST00000534749.1_Missense_Mutation_p.S634N|PITPNM1_ENST00000436757.2_Missense_Mutation_p.S634N	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	634					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGCCATGTCGCTGGGGATGCG	0.672000													11	118					0	0	0.000978159	0	0
OR10J1	26476	broad.mit.edu	37	1	159409809	159409809	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:159409809C>T	ENST00000423932.3	+	1	298	c.261C>T	c.(259-261)gtC>gtT	p.V87V	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	87					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATACATTGGTCATTCTCCCAA	0.458000													7	77					0	0	8.12818e-05	0	0
NWD1	284434	broad.mit.edu	37	19	16860942	16860942	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:16860942G>A	ENST00000524140.2	+	6	1907	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R	NWD1_ENST00000552788.1_Missense_Mutation_p.G497R|NWD1_ENST00000549814.1_Missense_Mutation_p.G497R|NWD1_ENST00000523826.1_Missense_Mutation_p.G291R|NWD1_ENST00000379808.3_Missense_Mutation_p.G497R|NWD1_ENST00000339803.6_Missense_Mutation_p.G362R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	497	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCCTTTCCGGAAACCAAGG	0.632000													6	93					0	0	8.12818e-05	0	0
KCNA4	3739	broad.mit.edu	37	11	30033487	30033487	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:30033487C>A	ENST00000328224.6	-	2	1972	c.739G>T	c.(739-741)Gtc>Ttc	p.V247F		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	247						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCAAAGGGGACATTGACTGGC	0.498000													6	118					5.18039e-06	4.09084e-05	0.000157383	1	0
IGSF3	3321	broad.mit.edu	37	1	117131576	117131576	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:117131576C>G	ENST00000369486.3	-	8	2945	c.2180G>C	c.(2179-2181)gGc>gCc	p.G727A	IGSF3_ENST00000318837.6_Missense_Mutation_p.G747A|IGSF3_ENST00000369483.1_Missense_Mutation_p.G747A	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	727	Ig-like C2-type 6.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GATAAGCTTGCCATCGGCATC	0.547000													29	98					0	0	0.000692331	0	0
IFT140	9742	broad.mit.edu	37	16	1561083	1561083	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:1561083C>T	ENST00000426508.2	-	31	4614	c.4251G>A	c.(4249-4251)ccG>ccA	p.P1417P	IFT140_ENST00000361339.5_Silent_p.P611P	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1417										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCACGGCCTGCGGGCTCACGT	0.662000													6	8					0	0	0.000157383	0	0
KANSL1	284058	broad.mit.edu	37	17	44110827	44110827	+	Splice_Site	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:44110827C>T	ENST00000262419.6	-	12	3137		c.e12-1		KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site|KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000393476.3_Splice_Site	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1							MLL1 complex	protein binding										CTCCCGCCAGCTGCAAAACCA	0.502000													11	24					0	0	0.000978159	0	0
NCOA1	8648	broad.mit.edu	37	2	24905921	24905921	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:24905921G>C	ENST00000405141.1	+	9	1167	c.456G>C	c.(454-456)atG>atC	p.M152I	NCOA1_ENST00000406961.1_Missense_Mutation_p.M152I|NCOA1_ENST00000538539.1_Missense_Mutation_p.M152I|NCOA1_ENST00000395856.3_Missense_Mutation_p.M152I|NCOA1_ENST00000348332.3_Missense_Mutation_p.M152I|NCOA1_ENST00000288599.5_Missense_Mutation_p.M152I|NCOA1_ENST00000407230.1_Start_Codon_SNP_p.M1I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	152	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAATTAATGAATACGAGCG	0.378000			T	PAX3	alveolar rhadomyosarcoma								3	42					0	0	6.4e-05	0	0
NBPF15	284565	broad.mit.edu	37	1	148594624	148594624	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:148594624T>C	ENST00000442702.2	+	21	3064	c.1997T>C	c.(1996-1998)gTc>gCc	p.V666A	NBPF15_ENST00000369187.3_Missense_Mutation_p.V666A	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	666	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CAGATGGGAGTCATATTCCCA	0.448000													3	132					0	0	0.00024832	0	0
KIN	22944	broad.mit.edu	37	10	7822113	7822113	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:7822113G>A	ENST00000379562.3	-	4	329	c.282C>T	c.(280-282)gtC>gtT	p.V94V	KIN_ENST00000543003.1_5'UTR|KIN_ENST00000535925.1_Silent_p.V94V			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	94					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ATTCGTTGTAGACAATGTTGT	0.408000													14	88					0	0	0.000219431	0	0
ZNF473	25888	broad.mit.edu	37	19	50549349	50549349	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:50549349T>A	ENST00000595661.1	+	6	2144	c.1649T>A	c.(1648-1650)aTc>aAc	p.I550N	ZNF473_ENST00000445728.3_Missense_Mutation_p.I538N|ZNF473_ENST00000270617.3_Missense_Mutation_p.I550N|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.I550N|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	550	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGTGGGAAGATCTTGGATCAG	0.453000													5	32					0	0	0.00116845	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840687	36840687	+	RNA	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:36840687C>T	ENST00000557188.1	+	0	318																											AAGAAAATTCCCGGGACGATT	0.478000													9	70					0	0	0.000274275	0	0
KIAA0430	9665	broad.mit.edu	37	16	15715663	15715663	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:15715663A>G	ENST00000396368.3	-	12	2772	c.2566T>C	c.(2566-2568)Tac>Cac	p.Y856H	KIAA0430_ENST00000540441.2_Missense_Mutation_p.Y691H|KIAA0430_ENST00000551742.1_Missense_Mutation_p.Y856H|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Y853H|KIAA0430_ENST00000602337.1_Missense_Mutation_p.Y853H|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Y525H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	855	RRM.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCAATTTTGTATCTGTGGAGG	0.458000													25	40					0	0	0.00047179	0	0
BRD4	23476	broad.mit.edu	37	19	15366308	15366308	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:15366308C>T	ENST00000263377.2	-	10	2068	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	BRD4_ENST00000371835.4_Missense_Mutation_p.R616Q|BRD4_ENST00000360016.5_Missense_Mutation_p.R616Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	616					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTGAGCTGCCGCTTCTCCTC	0.597000			T	C15orf55	lethal midline carcinoma of young people								26	95					0	0	0.00047179	0	0
CACNA1A	773	broad.mit.edu	37	19	13345741	13345741	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:13345741A>G	ENST00000360228.5	-	34	5242	c.5243T>C	c.(5242-5244)cTc>cCc	p.L1748P	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1749P|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1749					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCACCGGAAGAGAAGCATGAG	0.522000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	80					0	0	0.00127121	0	0
BTK	695	broad.mit.edu	37	X	100617678	100617678	+	Splice_Site	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:100617678C>A	ENST00000308731.7	-	6	555		c.e6-1		BTK_ENST00000372880.1_Splice_Site	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase						calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TACCGGATTACTGTAGCAGGA	0.463000									Agammaglobulinemia, X-linked				6	92					0.00116845	0.00877409	0.00116845	1	0
PLEKHA1	59338	broad.mit.edu	37	10	124189449	124189449	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:124189449G>A	ENST00000368990.3	+	12	1341	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	PLEKHA1_ENST00000368989.2_3'UTR|PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.V404M|PLEKHA1_ENST00000368988.1_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	404					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTCAGTGACGTGTGAGGCAG	0.498000													9	38					0	0	0.000442599	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883671	4883671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:4883671C>T	ENST00000361571.5	-	8	1354	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	CAMTA2_ENST00000381311.5_Missense_Mutation_p.G318R|CAMTA2_ENST00000572543.1_Missense_Mutation_p.G321R|CAMTA2_ENST00000348066.3_Missense_Mutation_p.G316R|CAMTA2_ENST00000358183.4_Missense_Mutation_p.G316R|CAMTA2_ENST00000414043.3_Missense_Mutation_p.G339R	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	316					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAAGAACCCCCTCGAGAAGTG	0.592000											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	15					0	0	0.000375601	0	0
TPTE	7179	broad.mit.edu	37	21	10952943	10952943	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr21:10952943A>C	ENST00000298232.7	-	8	567	c.200T>G	c.(199-201)gTg>gGg	p.V67G	TPTE_ENST00000342420.5_Missense_Mutation_p.V47G|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.V85G	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	85					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AATTGAATGCACAATTTTCTT	0.333000													10	39					0	0	0.00010058	0	0
TRIM58	25893	broad.mit.edu	37	1	248028119	248028119	+	Missense_Mutation	SNP	C	C	A	rs138082117	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:248028119C>A	ENST00000366481.3	+	3	677	c.629C>A	c.(628-630)gCg>gAg	p.A210E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	210						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGGAGCGAGCGACGCTGCAG	0.652000													14	35					9.31168e-06	7.30609e-05	0.000151284	1	0
ZFP36L2	678	broad.mit.edu	37	2	43452530	43452530	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:43452530T>A	ENST00000282388.3	-	2	706	c.413A>T	c.(412-414)cAg>cTg	p.Q138L	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	138	Poly-Gln.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTGCTGCTGCTGCAGGTGCAG	0.662000													4	37					0	0	0.000602214	0	0
OR9A2	135924	broad.mit.edu	37	7	142724094	142724094	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:142724094C>T	ENST00000350513.2	-	1	188	c.126G>A	c.(124-126)acG>acA	p.T42T		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CAATGATGACCGTGTTTCCCA	0.443000													13	130					0	0	0.00010058	0	0
MYO3A	53904	broad.mit.edu	37	10	26462739	26462739	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:26462739C>G	ENST00000265944.5	+	30	3712	c.3546C>G	c.(3544-3546)aaC>aaG	p.N1182K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1182					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGAGAGTAACAACAGAGTGT	0.388000													8	42					0	0	0.000157383	0	0
TTLL4	9654	broad.mit.edu	37	2	219603790	219603790	+	Missense_Mutation	SNP	A	A	G	rs148659460	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:219603790A>G	ENST00000392102.1	+	3	1731	c.1391A>G	c.(1390-1392)aAc>aGc	p.N464S	TTLL4_ENST00000258398.4_Missense_Mutation_p.N464S|TTLL4_ENST00000457313.1_Missense_Mutation_p.N299S|TTLL4_ENST00000442769.1_Missense_Mutation_p.N464S	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	464					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)		GGCATAGCCAACGTGGCCACC	0.532000													12	12					0	0	0.00010058	0	0
POM121L12	285877	broad.mit.edu	37	7	53104106	53104106	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:53104106T>G	ENST00000408890.4	+	1	758	c.742T>G	c.(742-744)Tgt>Ggt	p.C248G		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	248										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTCAGTTTTTGTGATGATGC	0.632000													5	60					0	0	0.00116845	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032990	82032990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:82032990C>A	ENST00000328945.5	-	3	1035	c.908G>T	c.(907-909)cGa>cTa	p.R303L		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	303					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GTTGTAGAGTCGACCCAAAAT	0.463000													23	21					4.4004e-07	3.54348e-06	0.00047179	1	0
P4HB	5034	broad.mit.edu	37	17	79804356	79804356	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:79804356C>T	ENST00000331483.4	-	7	1227	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Silent_p.T291T	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	335					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCTCTCTGCCGTCAGCTCCT	0.632000													36	98					0	0	0.00058488	0	0
MACROD2	140733	broad.mit.edu	37	20	15843468	15843468	+	Missense_Mutation	SNP	G	G	A	rs143525826	by1000genomes	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr20:15843468G>A	ENST00000217246.4	+	9	1119	c.724G>A	c.(724-726)Gta>Ata	p.V242I	MACROD2_ENST00000310348.4_Missense_Mutation_p.V242I|MACROD2_ENST00000402914.1_Missense_Mutation_p.V7I|MACROD2_ENST00000378058.3_Missense_Mutation_p.V7I	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	242										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTTTTTCTCCGTAGGTGAGTA	0.363000													8	33					0	0	0.000274275	0	0
LPXN	9404	broad.mit.edu	37	11	58322350	58322350	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:58322350A>G	ENST00000528954.1	-	4	416	c.297T>C	c.(295-297)gaT>gaC	p.D99D	LPXN_ENST00000528489.1_Silent_p.D74D|LPXN_ENST00000395074.2_Silent_p.D94D	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	94					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCATGAGCTCATCCAACTGAG	0.502000													11	88					0	0	0.000151284	0	0
PSME4	23198	broad.mit.edu	37	2	54133994	54133994	+	Silent	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:54133994T>C	ENST00000404125.1	-	25	2851	c.2796A>G	c.(2794-2796)aaA>aaG	p.K932K	PSME4_ENST00000421748.2_Silent_p.K76K	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	932					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TATGTTGTTTTTTCCCATGGA	0.328000													3	64					0	0	0.00024832	0	0
GRM3	2913	broad.mit.edu	37	7	86394698	86394698	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:86394698C>T	ENST00000361669.2	+	2	1336	c.237C>T	c.(235-237)atC>atT	p.I79I	GRM3_ENST00000439827.1_Silent_p.I79I|GRM3_ENST00000394720.2_Silent_p.I77I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	79					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTGATGAAATCAACAAAGATG	0.423000													48	120					0	0	0.000680045	0	0
RGS11	8786	broad.mit.edu	37	16	319529	319529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:319529G>A	ENST00000397770.3	-	16	1279	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	ITFG3_ENST00000600536.1_3'UTR|RGS11_ENST00000359740.5_Missense_Mutation_p.A410V|RGS11_ENST00000316163.5_Missense_Mutation_p.A400V|ITFG3_ENST00000442458.2_3'UTR|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	421					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGGGATCCCAGCCTCTGCCAG	0.652000													16	15					0	0	0.000566183	0	0
SET	6418	broad.mit.edu	37	9	131456200	131456200	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:131456200G>C	ENST00000322030.8	+	7	1046	c.689G>C	c.(688-690)gGa>gCa	p.G230A	SET_ENST00000409104.3_Missense_Mutation_p.G221A|SET_ENST00000372692.4_Missense_Mutation_p.G243A|SET_ENST00000372688.4_Missense_Mutation_p.G219A|SET_ENST00000477806.1_3'UTR	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene	243					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		GATgaagaaggagaaggagaa	0.368000			T	NUP214	AML								6	39					0	0	8.12818e-05	0	0
ZNF14	7561	broad.mit.edu	37	19	19822424	19822424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:19822424C>T	ENST00000344099.3	-	4	1804	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TACGGTTTCTCTCCAGTGTGA	0.408000													5	105					0	0	0.000602214	0	0
CCRL2	9034	broad.mit.edu	37	3	46449784	46449784	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:46449784G>A	ENST00000399036.3	+	2	566	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	ACKR5_ENST00000400882.2_Missense_Mutation_p.V72M|ACKR5_ENST00000400880.3_Missense_Mutation_p.V72M|ACKR5_ENST00000357392.4_Missense_Mutation_p.V84M	NM_003965.4	NP_003956.2																					ACTCAAACGCGTGGAAAATAT	0.468000													23	31					0	0	0.000229342	0	0
KIFC2	90990	broad.mit.edu	37	8	145694974	145694974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:145694974C>T	ENST00000301332.2	+	12	1701	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	KIFC2_ENST00000301331.5_Missense_Mutation_p.R190C	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	442	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTACCGGGGGCGCCATCGTCG	0.612000													9	38					0	0	0.000274275	0	0
XIRP2	129446	broad.mit.edu	37	2	168101029	168101029	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:168101029T>C	ENST00000409195.1	+	9	3216	c.3127T>C	c.(3127-3129)Tct>Cct	p.S1043P	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S821P|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1043P|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	868					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						TAGAGGAATATCTGCTCAAGA	0.353000													9	19					0	0	0.000274275	0	0
ABCB4	5244	broad.mit.edu	37	7	87037431	87037431	+	Silent	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:87037431C>A	ENST00000265723.4	-	25	3312	c.3201G>T	c.(3199-3201)ctG>ctT	p.L1067L	ABCB4_ENST00000359206.3_Silent_p.L1067L|ABCB4_ENST00000358400.3_Silent_p.L1020L|ABCB4_ENST00000545634.1_Silent_p.L1067L|ABCB4_ENST00000453593.1_Silent_p.L1020L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1067	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGCTGCCCACCAGGGCTAGTG	0.562000													36	112					4.11147e-13	3.44688e-12	0.000692331	1	0
OR4A15	81328	broad.mit.edu	37	11	55135451	55135451	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:55135451T>C	ENST00000314706.3	+	1	92	c.92T>C	c.(91-93)aTg>aCg	p.M31T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	31					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						GAAGAACACATGAAAAATAAG	0.383000													8	47					0	0	0.000157383	0	0
RFX6	222546	broad.mit.edu	37	6	117216368	117216368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:117216368G>A	ENST00000332958.2	+	6	686	c.670G>A	c.(670-672)Gag>Aag	p.E224K	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	224					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						GCTAAAGAATGAGGTAAGAAT	0.289000													10	29					0	0	0.000978159	0	0
FUT8	2530	broad.mit.edu	37	14	66136078	66136078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:66136078C>T	ENST00000360689.5	+	7	2442	c.715C>T	c.(715-717)Cga>Tga	p.R239*	FUT8_ENST00000394585.1_Nonsense_Mutation_p.R239*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.R239*|FUT8_ENST00000557164.1_Nonsense_Mutation_p.R76*|FUT8_ENST00000358307.2_Nonsense_Mutation_p.R110*|FUT8_ENST00000554765.1_3'UTR	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	239					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGGCACCCAGCGAACACTCAT	0.473000													21	68					0	0	0.000375601	0	0
SLC9A9	285195	broad.mit.edu	37	3	142987754	142987754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:142987754G>A	ENST00000316549.6	-	15	1881	c.1673C>T	c.(1672-1674)cCg>cTg	p.P558L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	558					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCTGGAAATCGGACCACACCA	0.478000													7	171					0	0	0.000157383	0	0
ZNF473	25888	broad.mit.edu	37	19	50549350	50549350	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:50549350C>G	ENST00000595661.1	+	6	2145	c.1650C>G	c.(1648-1650)atC>atG	p.I550M	ZNF473_ENST00000445728.3_Missense_Mutation_p.I538M|ZNF473_ENST00000270617.3_Missense_Mutation_p.I550M|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.I550M|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	550	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGGGAAGATCTTGGATCAGA	0.458000													5	31					0	0	0.00116845	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70951445	70951445	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:70951445G>T	ENST00000359655.4	+	6	836	c.776G>T	c.(775-777)cGt>cTt	p.R259L	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	259	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTGAAGAGCGTGTGACAGTT	0.368000													12	49					2.31682e-05	0.000180624	0.000308642	1	0
AOC4P	90586	broad.mit.edu	37	17	41020616	41020616	+	RNA	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:41020616C>T	ENST00000585538.1	+	0	1455					NR_002773.1																						CCCCCTGCGGCGACACCACTC	0.527000													5	29					0	0	0.000602214	0	0
MAP6D1	79929	broad.mit.edu	37	3	183535795	183535795	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:183535795C>T	ENST00000318631.3	-	2	536	c.506G>A	c.(505-507)gGg>gAg	p.G169E	MAP6D1_ENST00000431348.1_Missense_Mutation_p.G169E	NM_024871.2	NP_079147.1	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	169						cytoskeleton				endometrium(1)|lung(1)	2	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAAGCCGGCCCCAGGGCTGCT	0.567000													78	78					0	0	0.000781405	0	0
PDCL	5082	broad.mit.edu	37	9	125585307	125585307	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:125585307C>T	ENST00000259467.4	-	3	507	c.342G>A	c.(340-342)aaG>aaA	p.K114K		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	114					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TCCCACTGATCTTCTCCTGGA	0.493000													5	147					0	0	0.00116845	0	0
KALRN	8997	broad.mit.edu	37	3	124431825	124431825	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:124431825C>A	ENST00000360013.3	+	58	8246	c.8119C>A	c.(8119-8121)Cgc>Agc	p.R2707S	KALRN_ENST00000291478.4_Missense_Mutation_p.R1010S|KALRN_ENST00000428018.2_Missense_Mutation_p.R978S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2706	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAGCTACCCGCAAAGATGT	0.413000													17	55					2.23348e-06	1.77518e-05	0.000422831	1	0
NIN	51199	broad.mit.edu	37	14	51237120	51237120	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:51237120C>A	ENST00000245441.5	-	12	1610	c.1420G>T	c.(1420-1422)Gcc>Tcc	p.A474S	NIN_ENST00000382041.3_Missense_Mutation_p.A474S|NIN_ENST00000389868.3_Missense_Mutation_p.A474S|NIN_ENST00000453196.1_Missense_Mutation_p.A474S|NIN_ENST00000382043.4_Missense_Mutation_p.A474S|NIN_ENST00000324330.9_Missense_Mutation_p.A474S|NIN_ENST00000530997.2_Missense_Mutation_p.A474S	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	474					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AAAGAGAGGGCAAGGCGGTCC	0.483000			T	PDGFRB	MPD								5	27					0.000602214	0.00455006	0.000602214	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213436131	213436131	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:213436131C>G	ENST00000366960.3	+	14	3212	c.3062C>G	c.(3061-3063)tCt>tGt	p.S1021C	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S809C|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S1009C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1021	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAATGTGTCTCTGAAGAGGCT	0.428000													22	42					0	0	0.000229342	0	0
PAK7	57144	broad.mit.edu	37	20	9546783	9546783	+	Silent	SNP	C	C	T	rs140739060	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr20:9546783C>T	ENST00000378429.3	-	6	1785	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PAK7_ENST00000353224.5_Silent_p.P413P|PAK7_ENST00000378423.1_Silent_p.P413P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	413	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCCAGCTGGGCGGCGGGTAGG	0.657000													20	48					0	0	0.000175454	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508169	106508169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:106508169G>A	ENST00000359195.3	+	2	473	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PIK3CG_ENST00000440650.2_Missense_Mutation_p.E55K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.E55K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	55					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAAGAGCCCCGAAACGGCGCT	0.667000													32	44					0	0	0.000339439	0	0
CIITA	4261	broad.mit.edu	37	16	10995979	10995979	+	Missense_Mutation	SNP	C	C	T	rs149076617		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:10995979C>T	ENST00000324288.8	+	7	699	c.566C>T	c.(565-567)gCg>gTg	p.A189V	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	189					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCACTGCCTGCGCTGTTCAAC	0.622000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								8	78					0	0	0.000274275	0	0
OR5I1	10798	broad.mit.edu	37	11	55703122	55703122	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:55703122A>G	ENST00000301532.3	-	1	754	c.755T>C	c.(754-756)aTc>aCc	p.I252T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCTTGGTAGATCGTCACTGA	0.428000													5	17					0	0	0.000602214	0	0
LRP10	26020	broad.mit.edu	37	14	23346447	23346447	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:23346447T>C	ENST00000359591.4	+	7	2544	c.1853T>C	c.(1852-1854)aTc>aCc	p.I618T	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	618	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCACTGCCCATCAAGGCTCCC	0.657000													7	156					0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179435389	179435389	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:179435389C>G	ENST00000589042.1	-	326	75694	c.75470G>C	c.(75469-75471)cGa>cCa	p.R25157P	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23516P|TTN_ENST00000359218.5_Missense_Mutation_p.R16217P|TTN_ENST00000342992.6_Missense_Mutation_p.R22589P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16092P|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16284P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23516	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R22587L(1)|p.R16284L(1)|p.R16092L(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)			TATTTCTAATCGAGCTGTGTT	0.413000													10	99					0	0	0.000673444	0	0
LRP1B	53353	broad.mit.edu	37	2	141093261	141093261	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:141093261C>T	ENST00000389484.3	-	78	13010	c.12039G>A	c.(12037-12039)ctG>ctA	p.L4013L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4013					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGGGCCATTCAGCTGCCCTA	0.433000										TSP Lung(27;0.18)			7	156					0	0	8.12818e-05	0	0
FAM135B	51059	broad.mit.edu	37	8	139190886	139190886	+	Silent	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:139190886C>A	ENST00000395297.1	-	10	1091	c.921G>T	c.(919-921)ctG>ctT	p.L307L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	307										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAGCCAGGCCAGATCCTTGC	0.512000										HNSCC(54;0.14)			16	31					7.07596e-05	0.000544715	0.00074312	1	0
SI	6476	broad.mit.edu	37	3	164727148	164727148	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:164727148G>A	ENST00000264382.3	-	35	4160	c.4098C>T	c.(4096-4098)ttC>ttT	p.F1366F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1366	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGAAGTCCTGAAGAAATCTG	0.378000										HNSCC(35;0.089)			60	46					0	0	0.000781405	0	0
PIK3CA	5290	broad.mit.edu	37	3	178922325	178922325	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:178922325A>T	ENST00000263967.3	+	6	1251	c.1094A>T	c.(1093-1095)gAa>gTa	p.E365V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	365	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGGAGGAGAACCCTTATGT	0.343000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	122					0	0	0.000781405	0	0
IFT122	55764	broad.mit.edu	37	3	129182445	129182445	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:129182445C>G	ENST00000296266.3	+	7	737	c.545C>G	c.(544-546)tCa>tGa	p.S182*	IFT122_ENST00000349441.2_Nonsense_Mutation_p.S79*|IFT122_ENST00000507564.1_Nonsense_Mutation_p.S182*|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000348417.2_Nonsense_Mutation_p.S131*|IFT122_ENST00000347300.2_Nonsense_Mutation_p.S131*|IFT122_ENST00000504021.1_Nonsense_Mutation_p.S84*	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	131					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAACACAAATCAAGCAGCAAG	0.398000													4	61					0	0	0.00024832	0	0
XIRP2	129446	broad.mit.edu	37	2	168102825	168102825	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:168102825A>G	ENST00000409195.1	+	9	5012	c.4923A>G	c.(4921-4923)ttA>ttG	p.L1641L	XIRP2_ENST00000409273.1_Silent_p.L1419L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.L1641L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1466					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						CTCAATTATTAAACAGATCAA	0.328000													8	30					0	0	0.000157383	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249308	43249308	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr18:43249308A>C	ENST00000255226.6	+	16	2890	c.2074A>C	c.(2074-2076)Aag>Cag	p.K692Q	SLC14A2_ENST00000586448.1_Missense_Mutation_p.K692Q|SLC14A2_ENST00000589658.1_Missense_Mutation_p.K169Q	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	692						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCTTCAGCAAGTGGGACCT	0.552000													8	132					0	0	0.000442599	0	0
ATP13A4	84239	broad.mit.edu	37	3	193171990	193171990	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:193171990A>C	ENST00000342695.4	-	17	2249	c.1927T>G	c.(1927-1929)Ttt>Gtt	p.F643V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.F624V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	643					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)		TCGCTAACAAAACTAGTGGGT	0.433000													8	89					0	0	0.000157383	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032990	82032990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr16:82032990C>A	ENST00000328945.5	-	3	1035	c.908G>T	c.(907-909)cGa>cTa	p.R303L		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	303					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GTTGTAGAGTCGACCCAAAAT	0.463000													23	21					4.4004e-07	2.79279e-06	0.00047179	1	0
WDR72	256764	broad.mit.edu	37	15	53907901	53907901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr15:53907901C>G	ENST00000396328.1	-	15	2741	c.2502G>C	c.(2500-2502)ttG>ttC	p.L834F	WDR72_ENST00000557913.1_Missense_Mutation_p.L831F|WDR72_ENST00000360509.5_Missense_Mutation_p.L834F|WDR72_ENST00000559418.1_Missense_Mutation_p.L844F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	834										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TATCTTCATTCAAAGAAATTC	0.343000													9	75					0	0	0.000274275	0	0
ACTC1	70	broad.mit.edu	37	15	35086901	35086901	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr15:35086901C>T	ENST00000290378.4	-	2	764	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	37					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGGCGGCCCACGATGGACGGG	0.687000													9	25					0	0	0.000673444	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793680	100793680	+	Silent	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr14:100793680C>G	ENST00000361529.3	+	4	378	c.300C>G	c.(298-300)ctC>ctG	p.L100L	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	100					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						ACATCACGCTCTCGGGATGCG	0.662000													16	60					0	0	0.00074312	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530532	84530532	+	RNA	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr9:84530532C>T	ENST00000527857.1	+	0	554					NR_026851.1																						CTTCCACCCCCTCAGCAACCA	0.527000													16	46					0	0	0.000566183	0	0
ERBB3	2065	broad.mit.edu	37	12	56478837	56478837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr12:56478837C>G	ENST00000267101.3	+	3	733	c.293C>G	c.(292-294)cCa>cGa	p.P98R	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.P39R|ERBB3_ENST00000411731.2_Missense_Mutation_p.P98R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	98					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCTACTCTACCATTGCCCAAC	0.507000													6	112					0	0	0.00116845	0	0
CFI	3426	broad.mit.edu	37	4	110687902	110687902	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr4:110687902C>T	ENST00000394634.2	-	2	343	c.136G>A	c.(136-138)Gtc>Atc	p.V46I	CFI_ENST00000512148.1_Missense_Mutation_p.V46I|CFI_ENST00000510800.1_Missense_Mutation_p.V46I|CFI_ENST00000394635.3_Missense_Mutation_p.V46I	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	46					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGGCAGAAGACTTTATCGCAG	0.428000													4	46					0	0	0.00024832	0	0
HPX	3263	broad.mit.edu	37	11	6452915	6452915	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:6452915G>A	ENST00000265983.3	-	9	1185	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GATAAAGGCCGCATCCACAGA	0.557000													38	24					0	0	0.000814825	0	0
LRP10	26020	broad.mit.edu	37	14	23346447	23346447	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr14:23346447T>C	ENST00000359591.4	+	7	2544	c.1853T>C	c.(1852-1854)aTc>aCc	p.I618T	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	618	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCACTGCCCATCAAGGCTCCC	0.657000													7	156					0	0	8.12818e-05	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265032	67265032	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:67265032C>T	ENST00000356404.3	-	13	2126	c.1901G>A	c.(1900-1902)aGc>aAc	p.S634N	PITPNM1_ENST00000436757.2_Missense_Mutation_p.S634N|PITPNM1_ENST00000534749.1_Missense_Mutation_p.S634N	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	634					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGCCATGTCGCTGGGGATGCG	0.672000													11	118					0	0	0.000978159	0	0
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr22:22127164C>A	ENST00000215832.6	-	7	1152	c.964G>T	c.(964-966)Gag>Tag	p.E322*	MAPK1_ENST00000398822.3_Nonsense_Mutation_p.E322*|MAPK1_ENST00000544786.1_Nonsense_Mutation_p.E278*	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478000													33	55					1.22384e-17	8.14749e-17	0.000491102	1	0
OR52N4	390072	broad.mit.edu	37	11	5776833	5776833	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:5776833C>A	ENST00000317254.3	+	1	911	c.863C>A	c.(862-864)cCc>cAc	p.P288H	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTCCTACCACCCACTATGAAC	0.448000													41	31					6.2361e-21	4.27106e-20	0.00170553	1	0
IQCH	64799	broad.mit.edu	37	15	67687836	67687836	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr15:67687836C>T	ENST00000335894.4	+	13	1906	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C	IQCH_ENST00000360277.4_Intron|IQCH_ENST00000546225.1_Intron|IQCH_ENST00000358767.3_Intron	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	614										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGGAGGCAAACGTGTCTTTGA	0.448000													9	68					0	0	0.000274275	0	0
STARD3NL	83930	broad.mit.edu	37	7	38247206	38247206	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr7:38247206T>A	ENST00000009041.7	+	2	358	c.101T>A	c.(100-102)aTg>aAg	p.M34K	STARD3NL_ENST00000396013.1_Missense_Mutation_p.M34K|STARD3NL_ENST00000544203.1_Missense_Mutation_p.M27K|STARD3NL_ENST00000434197.1_Missense_Mutation_p.M34K	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	34						integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ACACAACTCATGGCCAGGATT	0.483000													39	23					0	0	0.00195071	0	0
TTN	7273	broad.mit.edu	37	2	179640223	179640223	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:179640223C>T	ENST00000589042.1	-	28	6592	c.6368G>A	c.(6367-6369)cGg>cAg	p.R2123Q	TTN_ENST00000360870.5_Missense_Mutation_p.R2123Q|TTN_ENST00000359218.5_Missense_Mutation_p.R2077Q|TTN_ENST00000460472.2_Missense_Mutation_p.R2077Q|TTN_ENST00000342175.6_Missense_Mutation_p.R2077Q|TTN_ENST00000591111.1_Missense_Mutation_p.R2123Q|TTN_ENST00000342992.6_Missense_Mutation_p.R2123Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1886	Ig-like 10.						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)			CCAGTAGATCCGGTCAGACCG	0.483000													16	38					0	0	0.000308642	0	0
STX11	8676	broad.mit.edu	37	6	144508185	144508185	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr6:144508185C>A	ENST00000367568.4	+	2	604	c.421C>A	c.(421-423)Cgc>Agc	p.R141S		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	141					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CACCTTCCAGCGCGCCATGCA	0.657000									Familial Hemophagocytic Lymphohistiocytosis				13	28					0.00136819	0.00804025	0.00136819	1	0
RYR1	6261	broad.mit.edu	37	19	39019040	39019040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:39019040C>T	ENST00000355481.4	+	73	11035	c.10904C>T	c.(10903-10905)cCc>cTc	p.P3635L	RYR1_ENST00000359596.3_Missense_Mutation_p.P3640L|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.P3640L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3640					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGTATGACGCCCCTGTACAAC	0.612000													7	60					0	0	8.12818e-05	0	0
CELA3B	23436	broad.mit.edu	37	1	22313089	22313089	+	Silent	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr1:22313089C>G	ENST00000337107.6	+	7	727	c.708C>G	c.(706-708)acC>acG	p.T236T	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	236	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ATGGCGTGACCAGCTTTGTTT	0.607000													11	30					0	0	0.000673444	0	0
CRB1	23418	broad.mit.edu	37	1	197390386	197390386	+	Silent	SNP	C	C	T	rs62636282	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr1:197390386C>T	ENST00000367400.3	+	6	1563	c.1428C>T	c.(1426-1428)acC>acT	p.T476T	CRB1_ENST00000538660.1_Silent_p.T476T|CRB1_ENST00000543483.1_Silent_p.T175T|CRB1_ENST00000367399.2_Silent_p.T364T|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000535699.1_Silent_p.T407T|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	476	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGGCTACACCGGGTCCCTGT	0.502000													12	57					0	0	0.00185496	0	0
BCL9	607	broad.mit.edu	37	1	147092754	147092754	+	Silent	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr1:147092754T>A	ENST00000234739.3	+	8	3533	c.2793T>A	c.(2791-2793)ccT>ccA	p.P931P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	931	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCCGTCACCTGGATGGACCT	0.582000			T	"""IGH@, IGL@"""	B-ALL								17	114					0	0	0.000566183	0	0
CD1C	911	broad.mit.edu	37	1	158262428	158262428	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr1:158262428C>T	ENST00000368170.3	+	4	932	c.653C>T	c.(652-654)tCt>tTt	p.S218F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	218	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGCCTTGGGTCTGGCCAGCTG	0.522000													6	66					0	0	0.00116845	0	0
CACNA1A	773	broad.mit.edu	37	19	13414674	13414674	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:13414674C>T	ENST00000360228.5	-	16	2010	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E672K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	672					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TACATGACCTCGTTCCAGTCT	0.577000													14	143					0	0	0.00185496	0	0
HCN1	348980	broad.mit.edu	37	5	45262058	45262058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr5:45262058C>T	ENST00000303230.4	-	8	2695	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	880						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTCTGCGTCTGGGTCTGTG	0.483000													7	161					0	0	0.000157383	0	0
ADAM2	2515	broad.mit.edu	37	8	39624380	39624380	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr8:39624380G>A	ENST00000265708.4	-	14	1597	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	ADAM2_ENST00000379853.2_Silent_p.D372D|ADAM2_ENST00000347580.4_Silent_p.D479D|ADAM2_ENST00000521880.1_Silent_p.D498D	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	498	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGCCAAATGTGTCTGTACATT	0.363000													10	71					0	0	0.000978159	0	0
BTK	695	broad.mit.edu	37	X	100617676	100617676	+	Splice_Site	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chrX:100617676T>A	ENST00000308731.7	-	6	556	c.391_splice	c.e6-1	p.V131_splice	BTK_ENST00000372880.1_Splice_Site_p.V131_splice	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	131	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTACCGGATTACTGTAGCAG	0.458000									Agammaglobulinemia, X-linked				6	95					0	0	0.00116845	0	0
RP1	6101	broad.mit.edu	37	8	55534743	55534743	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr8:55534743A>T	ENST00000220676.1	+	3	830	c.682A>T	c.(682-684)Aaa>Taa	p.K228*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	228	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAGCCATTTAAACCAGGAAA	0.493000													12	21					0	0	0.00136819	0	0
SYT9	143425	broad.mit.edu	37	11	7324589	7324589	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:7324589G>A	ENST00000318881.6	+	2	702	c.465G>A	c.(463-465)caG>caA	p.Q155Q	SYT9_ENST00000396716.2_Silent_p.Q123Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	155						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCCGCGTGCAGCGCCAAGTCA	0.597000													12	15					0	0	0.000978159	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027454	86027454	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr8:86027454G>A	ENST00000414626.2	+	4	1493	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	LRRCC1_ENST00000360375.3_Missense_Mutation_p.G222S			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	222	LRRCT.				cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GTGCCTAGAAGGTCTTTTGGA	0.328000													27	42					0	0	0.00178596	0	0
GMIP	51291	broad.mit.edu	37	19	19749068	19749068	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:19749068C>T	ENST00000203556.4	-	9	826	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GMIP_ENST00000587238.1_Missense_Mutation_p.R230H|GMIP_ENST00000445806.2_Missense_Mutation_p.R230H	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	230					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCCTGGGAGCGTGCCCGCAG	0.716000													13	16					0	0	0.000219431	0	0
GABRR1	2569	broad.mit.edu	37	6	89926972	89926972	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr6:89926972T>A	ENST00000435811.1	-	1	524	c.70A>T	c.(70-72)Agc>Tgc	p.S24C	GABRR1_ENST00000369451.3_Intron|GABRR1_ENST00000454853.2_Missense_Mutation_p.S24C|GABRR1_ENST00000481493.1_5'UTR	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	24					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGCATTCTGCTTTCAGTGGCC	0.463000													11	34					0	0	0.000219431	0	0
KLKB1	3818	broad.mit.edu	37	4	187155200	187155200	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr4:187155200C>T	ENST00000264690.6	+	4	503	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.H106Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	106					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCAATGTGGTCATCAAATAAG	0.383000													6	30					0	0	0.00116845	0	0
GABRG2	2566	broad.mit.edu	37	5	161580208	161580208	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr5:161580208A>G	ENST00000356592.3	+	10	1722	c.1262A>G	c.(1261-1263)gAc>gGc	p.D421G	GABRG2_ENST00000414552.2_Missense_Mutation_p.D461G|GABRG2_ENST00000393933.4_Missense_Mutation_p.D318G|GABRG2_ENST00000361925.4_Missense_Mutation_p.D413G	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	413					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACGGCAAGGACTGTGCCAGT	0.458000													10	61					0	0	0.000442599	0	0
GLI3	2737	broad.mit.edu	37	7	42065866	42065866	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr7:42065866G>T	ENST00000395925.3	-	8	1258	c.1174C>A	c.(1174-1176)Cct>Act	p.P392T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	392					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						CCTGGAATAGGCCTCTGTGTT	0.587000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				10	10					4.68919e-08	2.99605e-07	0.000673444	1	0
PARP14	54625	broad.mit.edu	37	3	122418794	122418794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:122418794C>A	ENST00000474629.2	+	6	1659	c.1393C>A	c.(1393-1395)Caa>Aaa	p.Q465K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGGGAAGAGCAAAGTTTGAA	0.403000													30	27					2.12542e-12	1.38589e-11	0.00106085	1	0
OR4K1	79544	broad.mit.edu	37	14	20404652	20404652	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr14:20404652C>G	ENST00000285600.4	+	1	886	c.827C>G	c.(826-828)aCt>aGt	p.T276S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGTTCTACACTGTTTGTACT	0.428000													10	332					0	0	0.00136819	0	0
TTC40	54777	broad.mit.edu	37	10	134660723	134660723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr10:134660723C>T	ENST00000368586.5	-	42	6155	c.6055G>A	c.(6055-6057)Gag>Aag	p.E2019K	TTC40_ENST00000263170.5_Missense_Mutation_p.E180K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	180										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGTGCTCCTCCGGGGCTGCC	0.697000													19	52					0	0	0.00074312	0	0
NWD1	284434	broad.mit.edu	37	19	16860942	16860942	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:16860942G>A	ENST00000524140.2	+	6	1907	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R	NWD1_ENST00000552788.1_Missense_Mutation_p.G497R|NWD1_ENST00000549814.1_Missense_Mutation_p.G497R|NWD1_ENST00000523826.1_Missense_Mutation_p.G291R|NWD1_ENST00000379808.3_Missense_Mutation_p.G497R|NWD1_ENST00000339803.6_Missense_Mutation_p.G362R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	497	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCCTTTCCGGAAACCAAGG	0.632000													6	93					0	0	8.12818e-05	0	0
FUT8	2530	broad.mit.edu	37	14	66136078	66136078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr14:66136078C>T	ENST00000360689.5	+	7	2442	c.715C>T	c.(715-717)Cga>Tga	p.R239*	FUT8_ENST00000557164.1_Nonsense_Mutation_p.R76*|FUT8_ENST00000394585.1_Nonsense_Mutation_p.R239*|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000394586.2_Nonsense_Mutation_p.R239*|FUT8_ENST00000358307.2_Nonsense_Mutation_p.R110*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	239					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGGCACCCAGCGAACACTCAT	0.473000													21	68					0	0	0.000375601	0	0
TMSB10	9168	broad.mit.edu	37	2	85133166	85133166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:85133166G>A	ENST00000233143.4	+	2	134	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN	thymosin beta 10	9					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			endometrium(1)	1						AGACATGGGGGAAATCGCCAG	0.582000													23	31					0	0	0.000375601	0	0
BTK	695	broad.mit.edu	37	X	100617678	100617678	+	Splice_Site	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chrX:100617678C>A	ENST00000308731.7	-	6	555		c.e6-1		BTK_ENST00000372880.1_Splice_Site	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase						calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TACCGGATTACTGTAGCAGGA	0.463000									Agammaglobulinemia, X-linked				6	92					0.00116845	0.00695225	0.00116845	1	0
AGTR2	186	broad.mit.edu	37	X	115304382	115304382	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chrX:115304382G>C	ENST00000371906.4	+	3	1039	c.849G>C	c.(847-849)tgG>tgC	p.W283C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	283					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						CTCTGGCCTGGATGGGTGTCA	0.507000													11	84					0	0	0.000673444	0	0
ADAM10	102	broad.mit.edu	37	15	58933155	58933155	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr15:58933155T>C	ENST00000260408.3	-	8	1276	c.833A>G	c.(832-834)aAt>aGt	p.N278S	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	278	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AGCAGTTGTATTGATCTAAAA	0.373000													3	38					0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9045870	9045870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:9045870C>A	ENST00000397910.4	-	5	35964	c.35761G>T	c.(35761-35763)Gaa>Taa	p.E11921*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11923	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGGTTTCTGTGTTCCAG	0.498000													50	92					1.07234e-20	7.29194e-20	0.000781405	1	0
MACROD2	140733	broad.mit.edu	37	20	15843468	15843468	+	Missense_Mutation	SNP	G	G	A	rs143525826	by1000genomes	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr20:15843468G>A	ENST00000217246.4	+	9	1119	c.724G>A	c.(724-726)Gta>Ata	p.V242I	MACROD2_ENST00000378058.3_Missense_Mutation_p.V7I|MACROD2_ENST00000310348.4_Missense_Mutation_p.V242I|MACROD2_ENST00000402914.1_Missense_Mutation_p.V7I	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	242										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTTTTTCTCCGTAGGTGAGTA	0.363000													8	33					0	0	0.000274275	0	0
GRM3	2913	broad.mit.edu	37	7	86394698	86394698	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr7:86394698C>T	ENST00000361669.2	+	2	1336	c.237C>T	c.(235-237)atC>atT	p.I79I	GRM3_ENST00000439827.1_Silent_p.I79I|GRM3_ENST00000394720.2_Silent_p.I77I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	79					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTGATGAAATCAACAAAGATG	0.423000													48	120					0	0	0.000680045	0	0
NES	10763	broad.mit.edu	37	1	156640375	156640375	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr1:156640375G>A	ENST00000368223.3	-	4	3737	c.3605C>T	c.(3604-3606)cCt>cTt	p.P1202L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1202	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGAGGCCAAGGTGAAGGGGC	0.647000													5	104					0	0	0.000602214	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885295	88885295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr8:88885295G>A	ENST00000319675.3	-	1	1001	c.905C>T	c.(904-906)aCt>aTt	p.T302I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	302										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TACACATTTAGTGGCCCTCAA	0.512000													21	29					0	0	0.00152264	0	0
MUC15	143662	broad.mit.edu	37	11	26587444	26587444	+	Splice_Site	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:26587444C>T	ENST00000436318.2	-	2	177		c.e2-1		MUC15_ENST00000527569.1_Splice_Site|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Splice_Site|MUC15_ENST00000455601.2_Splice_Site|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Splice_Site|ANO3_ENST00000531568.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated							extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTAAAGGAATCTGAAAGAAAA	0.274000													9	32					0	0	0.000274275	0	0
SARDH	1757	broad.mit.edu	37	9	136573442	136573442	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr9:136573442G>A	ENST00000371872.4	-	11	1694	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	SARDH_ENST00000439388.1_Silent_p.A479A|SARDH_ENST00000422262.2_Silent_p.A311A	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	479					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGTTGCGCCCGGCCAGCGGCT	0.657000													7	73					0	0	0.000157383	0	0
HEY2	23493	broad.mit.edu	37	6	126080849	126080849	+	Silent	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr6:126080849G>T	ENST00000368364.3	+	5	1112	c.915G>T	c.(913-915)ccG>ccT	p.P305P	HEY2_ENST00000368365.1_Silent_p.P259P	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	305					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCATCAGCCCGCCCTTGTCAG	0.597000													54	103					4.6707e-30	3.22211e-29	0.000781405	1	0
PEX2	5828	broad.mit.edu	37	8	77896342	77896342	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr8:77896342G>T	ENST00000419564.2	-	4	537	c.73C>A	c.(73-75)Cta>Ata	p.L25I	PEX2_ENST00000522527.1_Missense_Mutation_p.L25I|PEX2_ENST00000520103.1_Missense_Mutation_p.L25I|PEX2_ENST00000357039.4_Missense_Mutation_p.L25I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	25					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						GCCTTGTTTAGTTCAAGTGCA	0.458000													6	87					3.59834e-05	0.000219591	0.00116845	1	0
RBM6	10180	broad.mit.edu	37	3	50103889	50103889	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:50103889A>T	ENST00000443081.1	+	17	3420	c.2501A>T	c.(2500-2502)aAt>aTt	p.N834I	RBM6_ENST00000539992.1_Missense_Mutation_p.N308I|RBM6_ENST00000421682.1_5'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.N966I|RBM6_ENST00000422955.1_Missense_Mutation_p.N444I|RBM6_ENST00000442092.1_Missense_Mutation_p.N444I			P78332	RBM6_HUMAN	RNA binding motif protein 6	966					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGTTTCCCAATAAAGAAGTT	0.478000													50	65					0	0	0.000781405	0	0
CDH11	1009	broad.mit.edu	37	16	65026844	65026844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr16:65026844G>A	ENST00000394156.3	-	5	1070	c.617C>T	c.(616-618)cCc>cTc	p.P206L	CDH11_ENST00000268603.4_Missense_Mutation_p.P206L|CDH11_ENST00000566827.1_Missense_Mutation_p.P80L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	206	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGAAAAATAGGGTTGTCCTTC	0.443000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			5	52					0	0	0.000602214	0	0
ZNF20	7568	broad.mit.edu	37	19	12244792	12244792	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:12244792C>T	ENST00000334213.5	-	4	433	c.209G>A	c.(208-210)aGa>aAa	p.R70K	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000485451.1_5'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GAGTTTCTCTCTCATAAGACT	0.413000													19	54					0	0	0.000958276	0	0
FOXB1	27023	broad.mit.edu	37	15	60297874	60297874	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr15:60297874T>C	ENST00000396057.4	+	2	1191	c.712T>C	c.(712-714)Tac>Cac	p.Y238H	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	238					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GAGTGGCGACTACAGCGCCTA	0.706000													9	11					0	0	0.000442599	0	0
GPX4	2879	broad.mit.edu	37	19	1105714	1105714	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:1105714G>C	ENST00000354171.8	+	4	489	c.382G>C	c.(382-384)Gat>Cat	p.D128H	GPX4_ENST00000589115.1_Missense_Mutation_p.D128H	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN	glutathione peroxidase 4	128					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glutathione(DB00143)	CGTCAAATTCGATATGTTCAG	0.587000													5	13					0	0	0.000602214	0	0
HEY2	23493	broad.mit.edu	37	6	126080846	126080846	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr6:126080846C>T	ENST00000368364.3	+	5	1109	c.912C>T	c.(910-912)agC>agT	p.S304S	HEY2_ENST00000368365.1_Silent_p.S258S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	304					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGCCATCAGCCCGCCCTTGT	0.607000													56	103					0	0	0.000781405	0	0
ADCK4	79934	broad.mit.edu	37	19	41209448	41209448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:41209448G>A	ENST00000324464.3	-	9	1098	c.797C>T	c.(796-798)gCg>gTg	p.A266V	ADCK4_ENST00000243583.6_Missense_Mutation_p.A225V|ADCK4_ENST00000450541.1_Missense_Mutation_p.A225V	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	266	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CGCCTCACCCGCGGGCAGGGC	0.647000													11	5					0	0	0.00136819	0	0
ADAM10	102	broad.mit.edu	37	15	58971446	58971446	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr15:58971446C>G	ENST00000260408.3	-	4	804	c.361G>C	c.(361-363)Gat>Cat	p.D121H	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	121					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AATCTTCCATCAATAACAGAC	0.358000													4	42					0	0	0.00024832	0	0
ABCB4	5244	broad.mit.edu	37	7	87069068	87069068	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr7:87069068C>A	ENST00000265723.4	-	14	1757	c.1646G>T	c.(1645-1647)cGc>cTc	p.R549L	ABCB4_ENST00000453593.1_Missense_Mutation_p.R549L|ABCB4_ENST00000359206.3_Missense_Mutation_p.R549L|ABCB4_ENST00000358400.3_Missense_Mutation_p.R549L|ABCB4_ENST00000545634.1_Missense_Mutation_p.R549L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	549	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTGGGGTTGCGAACCAGGGC	0.532000													8	131					0.000274275	0.00165259	0.000274275	1	0
CACNA1A	773	broad.mit.edu	37	19	13345741	13345741	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:13345741A>G	ENST00000360228.5	-	34	5242	c.5243T>C	c.(5242-5244)cTc>cCc	p.L1748P	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1749P|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1749					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCACCGGAAGAGAAGCATGAG	0.522000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	80					0	0	0.00127121	0	0
TREML2	79865	broad.mit.edu	37	6	41166104	41166104	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr6:41166104T>G	ENST00000483722.1	-	2	304	c.119A>C	c.(118-120)cAg>cCg	p.Q40P		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	40	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATAGGAGCACTGCACAGACAG	0.502000													8	169					0	0	0.000274275	0	0
TTLL4	9654	broad.mit.edu	37	2	219603790	219603790	+	Missense_Mutation	SNP	A	A	G	rs148659460	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:219603790A>G	ENST00000392102.1	+	3	1731	c.1391A>G	c.(1390-1392)aAc>aGc	p.N464S	TTLL4_ENST00000258398.4_Missense_Mutation_p.N464S|TTLL4_ENST00000442769.1_Missense_Mutation_p.N464S|TTLL4_ENST00000457313.1_Missense_Mutation_p.N299S	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	464					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)		GGCATAGCCAACGTGGCCACC	0.532000													12	12					0	0	0.00136819	0	0
FCRL1	115350	broad.mit.edu	37	1	157776893	157776893	+	Splice_Site	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr1:157776893G>A	ENST00000358292.3	-	2	102	c.52_splice	c.e2+1	p.A17_splice	FCRL1_ENST00000491942.1_Splice_Site_p.A17_splice|FCRL1_ENST00000368176.3_Splice_Site_p.A17_splice	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	17	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAACTCACCGGCAGGTTCAC	0.483000													15	73					0	0	0.00074312	0	0
LRP2	4036	broad.mit.edu	37	2	170062018	170062018	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:170062018C>A	ENST00000263816.3	-	41	7971	c.7686G>T	c.(7684-7686)gaG>gaT	p.E2562D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2562					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGAGAAGGTCCTCTTCATAGT	0.483000													11	100					0.00136819	0.00804025	0.00136819	1	0
DLG3	1741	broad.mit.edu	37	X	69673592	69673592	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chrX:69673592A>G	ENST00000194900.4	+	9	1646	c.1305A>G	c.(1303-1305)ggA>ggG	p.G435G	DLG3-AS1_ENST00000431103.1_RNA|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000374355.3_Silent_p.G80G|DLG3_ENST00000374360.3_Silent_p.G417G			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	417	PDZ 3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TCCTGGCAGGAGGCCCAGCTG	0.567000													2	6					0	0	6.4e-05	0	0
BCAN	63827	broad.mit.edu	37	1	156616600	156616600	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr1:156616600C>T	ENST00000329117.4	+	3	435	c.99C>T	c.(97-99)cgC>cgT	p.R33R	BCAN_ENST00000361588.5_Silent_p.R33R|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	33					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGAGGACCGCGCTTTTCGCG	0.697000													5	20					0	0	0.000602214	0	0
SH2D4B	387694	broad.mit.edu	37	10	82329963	82329963	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr10:82329963G>T	ENST00000339284.2	+	2	668	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	SH2D4B_ENST00000470604.2_Missense_Mutation_p.V79F|SH2D4B_ENST00000313455.4_Missense_Mutation_p.V31F	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	79										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CGAGGTCTGGGTCTGGATCAT	0.532000													31	45					2.85442e-18	1.92724e-17	0.000339439	1	0
NALCN	259232	broad.mit.edu	37	13	101726002	101726002	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr13:101726002T>A	ENST00000251127.6	-	37	4212	c.4131A>T	c.(4129-4131)aaA>aaT	p.K1377N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1377						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGGTAATAGCTTTTCCAGCCG	0.353000													4	26					0	0	0.00024832	0	0
CNTN6	27255	broad.mit.edu	37	3	1415634	1415634	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:1415634T>C	ENST00000446702.2	+	16	2599	c.1972T>C	c.(1972-1974)Tac>Cac	p.Y658H	CNTN6_ENST00000350110.2_Missense_Mutation_p.Y658H|CNTN6_ENST00000539053.1_Missense_Mutation_p.Y586H			Q9UQ52	CNTN6_HUMAN	contactin 6	658	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGTAAGACATACAATGCAAC	0.383000													3	26					0	0	0.00024832	0	0
EYA4	2070	broad.mit.edu	37	6	133783512	133783512	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr6:133783512A>G	ENST00000367895.5	+	8	941	c.477A>G	c.(475-477)acA>acG	p.T159T	EYA4_ENST00000525849.1_Silent_p.T136T|EYA4_ENST00000452339.2_Silent_p.T105T|EYA4_ENST00000531901.1_Silent_p.T159T|EYA4_ENST00000431403.2_Silent_p.T159T|EYA4_ENST00000355286.6_Silent_p.T136T|EYA4_ENST00000430974.2_Silent_p.T105T|EYA4_ENST00000355167.3_Silent_p.T159T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	159					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGCTCAAACAATGTCTGCCT	0.478000													27	98					0	0	0.000720815	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747877	126747877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:126747877G>T	ENST00000251772.4	+	25	4711	c.4642G>T	c.(4642-4644)Gag>Tag	p.E1548*	PLXNA1_ENST00000393409.2_Nonsense_Mutation_p.E1571*			Q9UIW2	PLXA1_HUMAN	plexin A1	1571					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGCAGGACGAGGACGTCAC	0.657000													16	40					3.57192e-18	2.3947e-17	0.00074312	1	0
MKI67	4288	broad.mit.edu	37	10	129903164	129903164	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr10:129903164C>G	ENST00000368654.3	-	13	7315	c.6940G>C	c.(6940-6942)Gaa>Caa	p.E2314Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E1954Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2314	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAGGTCTTCTAGAGCCTGG	0.493000													63	269					0	0	0.000781405	0	0
OBP2B	29989	broad.mit.edu	37	9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	rs1132279		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612000													3	46					0	0	6.4e-05	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													5	9					0	0	0.00116845	0	0
JUP	3728	broad.mit.edu	37	17	39927914	39927914	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr17:39927914C>G	ENST00000393931.3	-	2	311	c.193G>C	c.(193-195)Gtg>Ctg	p.V65L	JUP_ENST00000310706.5_Missense_Mutation_p.V65L|JUP_ENST00000540235.1_Missense_Mutation_p.V65L|JUP_ENST00000393930.1_Missense_Mutation_p.V65L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	65					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTGGGGGGCACCCCCTGGGTG	0.612000													17	37					0	0	0.000566183	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880416	105880416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:105880416G>A	ENST00000301919.4	-	3	2299	c.884C>T	c.(883-885)aCa>aTa	p.T295I	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	295						nucleus											TAACTTCTCTGTTTCTATGTC	0.408000													12	134					0	0	0.000308642	0	0
CCDC108	255101	broad.mit.edu	37	2	219888039	219888039	+	Missense_Mutation	SNP	G	G	A	rs138095762		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:219888039G>A	ENST00000341552.5	-	16	2793	c.2710C>T	c.(2710-2712)Cgc>Tgc	p.R904C	CCDC108_ENST00000453220.1_Missense_Mutation_p.R904C|CCDC108_ENST00000441968.1_Missense_Mutation_p.R904C	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	904	MSP.					integral to membrane	structural molecule activity	p.R904C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGGGTTGCGGAAGGTGAAG	0.637000													9	23					0	0	0.000442599	0	0
SERPINH1	871	broad.mit.edu	37	11	75280100	75280100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:75280100C>T	ENST00000524558.1	+	4	2273	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	SERPINH1_ENST00000358171.3_Missense_Mutation_p.R280C|SERPINH1_ENST00000525876.1_Missense_Mutation_p.R63C|SERPINH1_ENST00000533603.1_Missense_Mutation_p.R280C|SERPINH1_ENST00000530284.1_Missense_Mutation_p.R280C			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	280					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GCCTCTCGAGCGCCTTGAAAA	0.562000													27	33					0	0	0.000720815	0	0
IGSF3	3321	broad.mit.edu	37	1	117131576	117131576	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr1:117131576C>G	ENST00000369486.3	-	8	2945	c.2180G>C	c.(2179-2181)gGc>gCc	p.G727A	IGSF3_ENST00000318837.6_Missense_Mutation_p.G747A|IGSF3_ENST00000369483.1_Missense_Mutation_p.G747A	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	727	Ig-like C2-type 6.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GATAAGCTTGCCATCGGCATC	0.547000													29	98					0	0	0.000692331	0	0
AICDA	57379	broad.mit.edu	37	12	8757850	8757850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr12:8757850G>A	ENST00000229335.6	-	3	491	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	AICDA_ENST00000537228.1_Missense_Mutation_p.H130Y	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	130					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CCGGCGCGGTGCAGCCGCCGC	0.647000													22	23					0	0	0.000720815	0	0
KCNA4	3739	broad.mit.edu	37	11	30033487	30033487	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:30033487C>A	ENST00000328224.6	-	2	1972	c.739G>T	c.(739-741)Gtc>Ttc	p.V247F		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	247						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCAAAGGGGACATTGACTGGC	0.498000													6	118					5.18039e-06	3.22335e-05	0.000157383	1	0
OR10J1	26476	broad.mit.edu	37	1	159409809	159409809	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr1:159409809C>T	ENST00000423932.3	+	1	298	c.261C>T	c.(259-261)gtC>gtT	p.V87V	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	87					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATACATTGGTCATTCTCCCAA	0.458000													7	77					0	0	8.12818e-05	0	0
IFT140	9742	broad.mit.edu	37	16	1561083	1561083	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr16:1561083C>T	ENST00000426508.2	-	31	4614	c.4251G>A	c.(4249-4251)ccG>ccA	p.P1417P	IFT140_ENST00000361339.5_Silent_p.P611P	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1417										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCACGGCCTGCGGGCTCACGT	0.662000													6	8					0	0	0.000157383	0	0
KANSL1	284058	broad.mit.edu	37	17	44110827	44110827	+	Splice_Site	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr17:44110827C>T	ENST00000262419.6	-	12	3137		c.e12-1		KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site|KANSL1_ENST00000393476.3_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1							MLL1 complex	protein binding										CTCCCGCCAGCTGCAAAACCA	0.502000													11	24					0	0	0.000978159	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213436131	213436131	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr1:213436131C>G	ENST00000366960.3	+	14	3212	c.3062C>G	c.(3061-3063)tCt>tGt	p.S1021C	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S1009C|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S809C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1021	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAATGTGTCTCTGAAGAGGCT	0.428000													22	42					0	0	0.00188189	0	0
NCOA1	8648	broad.mit.edu	37	2	24905921	24905921	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:24905921G>C	ENST00000405141.1	+	9	1167	c.456G>C	c.(454-456)atG>atC	p.M152I	NCOA1_ENST00000406961.1_Missense_Mutation_p.M152I|NCOA1_ENST00000407230.1_Start_Codon_SNP_p.M1I|NCOA1_ENST00000395856.3_Missense_Mutation_p.M152I|NCOA1_ENST00000538539.1_Missense_Mutation_p.M152I|NCOA1_ENST00000288599.5_Missense_Mutation_p.M152I|NCOA1_ENST00000348332.3_Missense_Mutation_p.M152I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	152	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAATTAATGAATACGAGCG	0.378000			T	PAX3	alveolar rhadomyosarcoma								3	42					0	0	6.4e-05	0	0
KIN	22944	broad.mit.edu	37	10	7822113	7822113	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr10:7822113G>A	ENST00000379562.3	-	4	329	c.282C>T	c.(280-282)gtC>gtT	p.V94V	KIN_ENST00000543003.1_5'UTR|KIN_ENST00000535925.1_Silent_p.V94V			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	94					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ATTCGTTGTAGACAATGTTGT	0.408000													14	88					0	0	0.000219431	0	0
ZNF473	25888	broad.mit.edu	37	19	50549349	50549349	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:50549349T>A	ENST00000595661.1	+	6	2144	c.1649T>A	c.(1648-1650)aTc>aAc	p.I550N	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.I538N|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.I550N|ZNF473_ENST00000270617.3_Missense_Mutation_p.I550N			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	550	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGTGGGAAGATCTTGGATCAG	0.453000													5	32					0	0	0.00116845	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840687	36840687	+	RNA	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr14:36840687C>T	ENST00000557188.1	+	0	318																											AAGAAAATTCCCGGGACGATT	0.478000													9	70					0	0	0.000274275	0	0
KIAA0430	9665	broad.mit.edu	37	16	15715663	15715663	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr16:15715663A>G	ENST00000396368.3	-	12	2772	c.2566T>C	c.(2566-2568)Tac>Cac	p.Y856H	KIAA0430_ENST00000548025.1_Missense_Mutation_p.Y853H|KIAA0430_ENST00000602337.1_Missense_Mutation_p.Y853H|KIAA0430_ENST00000540441.2_Missense_Mutation_p.Y691H|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Y525H|KIAA0430_ENST00000551742.1_Missense_Mutation_p.Y856H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	855	RRM.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCAATTTTGTATCTGTGGAGG	0.458000													25	40					0	0	0.00047179	0	0
BRD4	23476	broad.mit.edu	37	19	15366308	15366308	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:15366308C>T	ENST00000263377.2	-	10	2068	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	BRD4_ENST00000360016.5_Missense_Mutation_p.R616Q|BRD4_ENST00000371835.4_Missense_Mutation_p.R616Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	616					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTGAGCTGCCGCTTCTCCTC	0.597000			T	C15orf55	lethal midline carcinoma of young people								26	95					0	0	0.00047179	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124189449	124189449	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr10:124189449G>A	ENST00000368990.3	+	12	1341	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000368988.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.V404M|PLEKHA1_ENST00000368989.2_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	404					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTCAGTGACGTGTGAGGCAG	0.498000													9	38					0	0	0.000442599	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883671	4883671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr17:4883671C>T	ENST00000361571.5	-	8	1354	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	CAMTA2_ENST00000414043.3_Missense_Mutation_p.G339R|CAMTA2_ENST00000572543.1_Missense_Mutation_p.G321R|CAMTA2_ENST00000358183.4_Missense_Mutation_p.G316R|CAMTA2_ENST00000348066.3_Missense_Mutation_p.G316R|CAMTA2_ENST00000381311.5_Missense_Mutation_p.G318R	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	316					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAAGAACCCCCTCGAGAAGTG	0.592000											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	15					0	0	0.000375601	0	0
TPTE	7179	broad.mit.edu	37	21	10952943	10952943	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr21:10952943A>C	ENST00000298232.7	-	8	567	c.200T>G	c.(199-201)gTg>gGg	p.V67G	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.V85G|TPTE_ENST00000342420.5_Missense_Mutation_p.V47G	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	85					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AATTGAATGCACAATTTTCTT	0.333000													10	39					0	0	0.00136819	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452530	43452530	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:43452530T>A	ENST00000282388.3	-	2	706	c.413A>T	c.(412-414)cAg>cTg	p.Q138L	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	138	Poly-Gln.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTGCTGCTGCTGCAGGTGCAG	0.662000													4	37					0	0	0.000602214	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022971	131022971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr9:131022971G>A	ENST00000421699.2	-	17	1462	c.1450C>T	c.(1450-1452)Caa>Taa	p.Q484*		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	484						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACCTGGGCTTGAAGCTGTCCT	0.682000													23	54					0	0	0.00188189	0	0
OR9A2	135924	broad.mit.edu	37	7	142724094	142724094	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr7:142724094C>T	ENST00000350513.2	-	1	188	c.126G>A	c.(124-126)acG>acA	p.T42T		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CAATGATGACCGTGTTTCCCA	0.443000													13	130					0	0	0.00136819	0	0
MYO3A	53904	broad.mit.edu	37	10	26462739	26462739	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr10:26462739C>G	ENST00000265944.5	+	30	3712	c.3546C>G	c.(3544-3546)aaC>aaG	p.N1182K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1182					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGAGAGTAACAACAGAGTGT	0.388000													8	42					0	0	0.000157383	0	0
POM121L12	285877	broad.mit.edu	37	7	53104106	53104106	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr7:53104106T>G	ENST00000408890.4	+	1	758	c.742T>G	c.(742-744)Tgt>Ggt	p.C248G		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	248										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTCAGTTTTTGTGATGATGC	0.632000													5	60					0	0	0.00116845	0	0
P4HB	5034	broad.mit.edu	37	17	79804356	79804356	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr17:79804356C>T	ENST00000331483.4	-	7	1227	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Silent_p.T291T	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	335					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCTCTCTGCCGTCAGCTCCT	0.632000													36	98					0	0	0.00058488	0	0
ANKS1B	56899	broad.mit.edu	37	12	100173680	100173680	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr12:100173680C>T	ENST00000547776.2	-	6	815	c.816G>A	c.(814-816)caG>caA	p.Q272Q	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.Q272Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	272						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGAGAGATTTCTGAGATGGAT	0.343000													31	64					0	0	0.00111076	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	35					0	0	6.4e-05	0	0
TRIM58	25893	broad.mit.edu	37	1	248028119	248028119	+	Missense_Mutation	SNP	C	C	A	rs138082117	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr1:248028119C>A	ENST00000366481.3	+	3	677	c.629C>A	c.(628-630)gCg>gAg	p.A210E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	210						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGGAGCGAGCGACGCTGCAG	0.652000													14	35					9.31168e-06	5.75631e-05	0.00185496	1	0
RGS11	8786	broad.mit.edu	37	16	319529	319529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr16:319529G>A	ENST00000397770.3	-	16	1279	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	ITFG3_ENST00000442458.2_3'UTR|ITFG3_ENST00000600536.1_3'UTR|RGS11_ENST00000359740.5_Missense_Mutation_p.A410V|RGS11_ENST00000316163.5_Missense_Mutation_p.A400V|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	421					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGGGATCCCAGCCTCTGCCAG	0.652000													16	15					0	0	0.000566183	0	0
SET	6418	broad.mit.edu	37	9	131456200	131456200	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr9:131456200G>C	ENST00000322030.8	+	7	1046	c.689G>C	c.(688-690)gGa>gCa	p.G230A	SET_ENST00000477806.1_3'UTR|SET_ENST00000372688.4_Missense_Mutation_p.G219A|SET_ENST00000372692.4_Missense_Mutation_p.G243A|SET_ENST00000409104.3_Missense_Mutation_p.G221A	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene	243					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		GATgaagaaggagaaggagaa	0.368000			T	NUP214	AML								6	39					0	0	8.12818e-05	0	0
ZNF14	7561	broad.mit.edu	37	19	19822424	19822424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:19822424C>T	ENST00000344099.3	-	4	1804	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TACGGTTTCTCTCCAGTGTGA	0.408000													5	105					0	0	0.000602214	0	0
CCRL2	9034	broad.mit.edu	37	3	46449784	46449784	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:46449784G>A	ENST00000399036.3	+	2	566	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	ACKR5_ENST00000400880.3_Missense_Mutation_p.V72M|ACKR5_ENST00000400882.2_Missense_Mutation_p.V72M|ACKR5_ENST00000357392.4_Missense_Mutation_p.V84M	NM_003965.4	NP_003956.2																					ACTCAAACGCGTGGAAAATAT	0.468000													23	31					0	0	0.00188189	0	0
KIFC2	90990	broad.mit.edu	37	8	145694974	145694974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr8:145694974C>T	ENST00000301332.2	+	12	1701	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	KIFC2_ENST00000301331.5_Missense_Mutation_p.R190C	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	442	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTACCGGGGGCGCCATCGTCG	0.612000													9	38					0	0	0.000274275	0	0
XIRP2	129446	broad.mit.edu	37	2	168101029	168101029	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:168101029T>C	ENST00000409195.1	+	9	3216	c.3127T>C	c.(3127-3129)Tct>Cct	p.S1043P	XIRP2_ENST00000409273.1_Missense_Mutation_p.S821P|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1043P	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	868					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						TAGAGGAATATCTGCTCAAGA	0.353000													9	19					0	0	0.000274275	0	0
ABCB4	5244	broad.mit.edu	37	7	87037431	87037431	+	Silent	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr7:87037431C>A	ENST00000265723.4	-	25	3312	c.3201G>T	c.(3199-3201)ctG>ctT	p.L1067L	ABCB4_ENST00000453593.1_Silent_p.L1020L|ABCB4_ENST00000359206.3_Silent_p.L1067L|ABCB4_ENST00000358400.3_Silent_p.L1020L|ABCB4_ENST00000545634.1_Silent_p.L1067L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1067	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGCTGCCCACCAGGGCTAGTG	0.562000													36	112					4.11147e-13	2.71814e-12	0.000692331	1	0
OR4A15	81328	broad.mit.edu	37	11	55135451	55135451	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:55135451T>C	ENST00000314706.3	+	1	92	c.92T>C	c.(91-93)aTg>aCg	p.M31T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	31					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						GAAGAACACATGAAAAATAAG	0.383000													8	47					0	0	0.000157383	0	0
ZNF473	25888	broad.mit.edu	37	19	50549350	50549350	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr19:50549350C>G	ENST00000595661.1	+	6	2145	c.1650C>G	c.(1648-1650)atC>atG	p.I550M	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.I538M|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.I550M|ZNF473_ENST00000270617.3_Missense_Mutation_p.I550M			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	550	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGGGAAGATCTTGGATCAGA	0.458000													5	31					0	0	0.00116845	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70951445	70951445	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr10:70951445G>T	ENST00000359655.4	+	6	836	c.776G>T	c.(775-777)cGt>cTt	p.R259L	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	259	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTGAAGAGCGTGTGACAGTT	0.368000													12	49					2.31682e-05	0.000142298	0.000308642	1	0
AOC4P	90586	broad.mit.edu	37	17	41020616	41020616	+	RNA	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr17:41020616C>T	ENST00000585538.1	+	0	1455					NR_002773.1																						CCCCCTGCGGCGACACCACTC	0.527000													5	29					0	0	0.000602214	0	0
MAP6D1	79929	broad.mit.edu	37	3	183535795	183535795	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:183535795C>T	ENST00000318631.3	-	2	536	c.506G>A	c.(505-507)gGg>gAg	p.G169E	MAP6D1_ENST00000431348.1_Missense_Mutation_p.G169E	NM_024871.2	NP_079147.1	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	169						cytoskeleton				endometrium(1)|lung(1)	2	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAAGCCGGCCCCAGGGCTGCT	0.567000													78	78					0	0	0.000781405	0	0
PDCL	5082	broad.mit.edu	37	9	125585307	125585307	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr9:125585307C>T	ENST00000259467.4	-	3	507	c.342G>A	c.(340-342)aaG>aaA	p.K114K		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	114					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TCCCACTGATCTTCTCCTGGA	0.493000													5	147					0	0	0.00116845	0	0
GBX1	2636	broad.mit.edu	37	7	150846025	150846025	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr7:150846025G>T	ENST00000297537.4	-	2	742	c.743C>A	c.(742-744)gCa>gAa	p.A248E		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	248						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCACCGGTGCCCCCTCCTC	0.597000													15	161					1.52009e-12	9.98019e-12	0.000308642	1	0
KALRN	8997	broad.mit.edu	37	3	124431825	124431825	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:124431825C>A	ENST00000360013.3	+	58	8246	c.8119C>A	c.(8119-8121)Cgc>Agc	p.R2707S	KALRN_ENST00000428018.2_Missense_Mutation_p.R978S|KALRN_ENST00000291478.4_Missense_Mutation_p.R1010S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2706	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAGCTACCCGCAAAGATGT	0.413000													17	55					2.23348e-06	1.39887e-05	0.000422831	1	0
NIN	51199	broad.mit.edu	37	14	51237120	51237120	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr14:51237120C>A	ENST00000245441.5	-	12	1610	c.1420G>T	c.(1420-1422)Gcc>Tcc	p.A474S	NIN_ENST00000324330.9_Missense_Mutation_p.A474S|NIN_ENST00000453196.1_Missense_Mutation_p.A474S|NIN_ENST00000389868.3_Missense_Mutation_p.A474S|NIN_ENST00000382041.3_Missense_Mutation_p.A474S|NIN_ENST00000382043.4_Missense_Mutation_p.A474S|NIN_ENST00000530997.2_Missense_Mutation_p.A474S	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	474					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AAAGAGAGGGCAAGGCGGTCC	0.483000			T	PDGFRB	MPD								5	27					0.000602214	0.00360571	0.000602214	1	0
PAK7	57144	broad.mit.edu	37	20	9546783	9546783	+	Silent	SNP	C	C	T	rs140739060	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr20:9546783C>T	ENST00000378429.3	-	6	1785	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PAK7_ENST00000353224.5_Silent_p.P413P|PAK7_ENST00000378423.1_Silent_p.P413P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	413	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCCAGCTGGGCGGCGGGTAGG	0.657000													20	48					0	0	0.00152264	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508169	106508169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr7:106508169G>A	ENST00000359195.3	+	2	473	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PIK3CG_ENST00000496166.1_Missense_Mutation_p.E55K|PIK3CG_ENST00000440650.2_Missense_Mutation_p.E55K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	55					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAAGAGCCCCGAAACGGCGCT	0.667000													32	44					0	0	0.000339439	0	0
CIITA	4261	broad.mit.edu	37	16	10995979	10995979	+	Missense_Mutation	SNP	C	C	T	rs149076617		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr16:10995979C>T	ENST00000324288.8	+	7	699	c.566C>T	c.(565-567)gCg>gTg	p.A189V	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	189					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCACTGCCTGCGCTGTTCAAC	0.622000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								8	78					0	0	0.000274275	0	0
OR5I1	10798	broad.mit.edu	37	11	55703122	55703122	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:55703122A>G	ENST00000301532.3	-	1	754	c.755T>C	c.(754-756)aTc>aCc	p.I252T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCTTGGTAGATCGTCACTGA	0.428000													5	17					0	0	0.000602214	0	0
LPXN	9404	broad.mit.edu	37	11	58322350	58322350	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr11:58322350A>G	ENST00000528954.1	-	4	416	c.297T>C	c.(295-297)gaT>gaC	p.D99D	LPXN_ENST00000528489.1_Silent_p.D74D|LPXN_ENST00000395074.2_Silent_p.D94D	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	94					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCATGAGCTCATCCAACTGAG	0.502000													11	88					0	0	0.00185496	0	0
PSME4	23198	broad.mit.edu	37	2	54133994	54133994	+	Silent	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:54133994T>C	ENST00000404125.1	-	25	2851	c.2796A>G	c.(2794-2796)aaA>aaG	p.K932K	PSME4_ENST00000421748.2_Silent_p.K76K	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	932					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TATGTTGTTTTTTCCCATGGA	0.328000													3	64					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179435389	179435389	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:179435389C>G	ENST00000589042.1	-	326	75694	c.75470G>C	c.(75469-75471)cGa>cCa	p.R25157P	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16217P|TTN_ENST00000460472.2_Missense_Mutation_p.R16092P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16284P|TTN_ENST00000591111.1_Missense_Mutation_p.R23516P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22589P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23516	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R22587L(1)|p.R16284L(1)|p.R16092L(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)			TATTTCTAATCGAGCTGTGTT	0.413000													10	99					0	0	0.000673444	0	0
LRP1B	53353	broad.mit.edu	37	2	141093261	141093261	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:141093261C>T	ENST00000389484.3	-	78	13010	c.12039G>A	c.(12037-12039)ctG>ctA	p.L4013L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4013					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGGGCCATTCAGCTGCCCTA	0.433000										TSP Lung(27;0.18)			7	156					0	0	8.12818e-05	0	0
RFX6	222546	broad.mit.edu	37	6	117216368	117216368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr6:117216368G>A	ENST00000332958.2	+	6	686	c.670G>A	c.(670-672)Gag>Aag	p.E224K	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	224					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						GCTAAAGAATGAGGTAAGAAT	0.289000													10	29					0	0	0.000978159	0	0
SLC9A9	285195	broad.mit.edu	37	3	142987754	142987754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:142987754G>A	ENST00000316549.6	-	15	1881	c.1673C>T	c.(1672-1674)cCg>cTg	p.P558L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	558					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCTGGAAATCGGACCACACCA	0.478000													7	171					0	0	0.000157383	0	0
FAM135B	51059	broad.mit.edu	37	8	139190886	139190886	+	Silent	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr8:139190886C>A	ENST00000395297.1	-	10	1091	c.921G>T	c.(919-921)ctG>ctT	p.L307L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	307										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAGCCAGGCCAGATCCTTGC	0.512000										HNSCC(54;0.14)			16	31					7.07596e-05	0.000429065	0.00074312	1	0
SI	6476	broad.mit.edu	37	3	164727148	164727148	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:164727148G>A	ENST00000264382.3	-	35	4160	c.4098C>T	c.(4096-4098)ttC>ttT	p.F1366F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1366	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGAAGTCCTGAAGAAATCTG	0.378000										HNSCC(35;0.089)			60	46					0	0	0.000781405	0	0
PIK3CA	5290	broad.mit.edu	37	3	178922325	178922325	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:178922325A>T	ENST00000263967.3	+	6	1251	c.1094A>T	c.(1093-1095)gAa>gTa	p.E365V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	365	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGGAGGAGAACCCTTATGT	0.343000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	122					0	0	0.000781405	0	0
IFT122	55764	broad.mit.edu	37	3	129182445	129182445	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr3:129182445C>G	ENST00000296266.3	+	7	737	c.545C>G	c.(544-546)tCa>tGa	p.S182*	IFT122_ENST00000349441.2_Nonsense_Mutation_p.S79*|IFT122_ENST00000348417.2_Nonsense_Mutation_p.S131*|IFT122_ENST00000347300.2_Nonsense_Mutation_p.S131*|IFT122_ENST00000507564.1_Nonsense_Mutation_p.S182*|IFT122_ENST00000504021.1_Nonsense_Mutation_p.S84*|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000431818.2_5'UTR	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	131					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAACACAAATCAAGCAGCAAG	0.398000													4	61					0	0	0.00024832	0	0
RGPD3	653489	broad.mit.edu	37	2	107040930	107040931	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:107040930_107040931insA	ENST00000409886.3	-	20	3579_3580	c.3492_3493insT	c.(3490-3495)ttaggafs	p.LG1164fs	RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.LG1164fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1164	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGGCATTCCTCAAATTTCTGCT	0.436													74	75	---	---	---	---					
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttg>t	p.LL23del	CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	23					innate immune response	endoplasmic reticulum		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695													2	4	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49431982	49431983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:49431982_49431983insA	ENST00000301067.7	-	34	9155_9156	c.9156_9157insT	c.(9154-9159)tactgafs	p.*3053fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.T2783fs*1(1)|p.T3053fs*1(1)									TCAGGATCAGTATATGCCAGCA	0.520													18	38	---	---	---	---					
TRAV6	6956	broad.mit.edu	37	14	22237218	22237218	+	RNA	DEL	G	G	-			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:22237218delG	ENST00000390428.3	+	0	302																											AAAAAGGAAAGAAAGACTGAA	0.443													12	257	---	---	---	---					
TCEAL3	85012	broad.mit.edu	37	X	102864401	102864403	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:102864401_102864403delGAG	ENST00000372628.1	+	3	767_769	c.409_411delGAG	c.(409-411)del	p.E138del	TCEAL3_ENST00000243286.3_In_Frame_Del_p.E138del|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_In_Frame_Del_p.E138del			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TCTGAGCAGTGAGGAGATGATGA	0.478													62	57	---	---	---	---					
RGPD3	653489	broad.mit.edu	37	2	107040930	107040931	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr2:107040930_107040931insA	ENST00000409886.3	-	20	3579_3580	c.3492_3493insT	c.(3490-3495)ttaggafs	p.LG1164fs	RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.LG1164fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1164	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGGCATTCCTCAAATTTCTGCT	0.436													74	75	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16694613	16694614	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr5:16694613_16694614insA	ENST00000513610.1	-	27	4120_4121	c.3666_3667insT	c.(3664-3669)aaggggfs	p.K1222fs	MYO10_ENST00000427430.2_Frame_Shift_Ins_p.K579fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.K561fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.K561fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.K579fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1222	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.G1223R(5)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAGCCCCCCCCTTTTTTGTGGA	0.554													22	95	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49431982	49431983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr12:49431982_49431983insA	ENST00000301067.7	-	34	9155_9156	c.9156_9157insT	c.(9154-9159)tactgafs	p.*3053fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.T2783fs*1(1)|p.T3053fs*1(1)									TCAGGATCAGTATATGCCAGCA	0.520													18	38	---	---	---	---					
TRAV6	6956	broad.mit.edu	37	14	22237218	22237218	+	RNA	DEL	G	G	-			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chr14:22237218delG	ENST00000390428.3	+	0	302																											AAAAAGGAAAGAAAGACTGAA	0.443													12	257	---	---	---	---					
TCEAL3	85012	broad.mit.edu	37	X	102864401	102864403	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	01f28aef-6802-4d54-a644-448887298280	g.chrX:102864401_102864403delGAG	ENST00000372628.1	+	3	767_769	c.409_411delGAG	c.(409-411)del	p.E138del	TCEAL3_ENST00000243286.3_In_Frame_Del_p.E138del|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_In_Frame_Del_p.E138del			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TCTGAGCAGTGAGGAGATGATGA	0.478													62	57	---	---	---	---