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
MYH7	4625	broad.mit.edu	37	14	23887594	23887594	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:23887594C>T	uc001wjx.3	-	29	4100	c.3994G>A	c.(3994-3996)Gca>Aca	p.A1332T	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1332					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GACTGCAGTGCGTGGGCCAGG	0.657000													5	38					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627877	37627877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:37627877C>T	uc010cvv.3	+	1	2378	c.1792C>T	c.(1792-1794)Cag>Tag	p.Q598*	CDK12_uc010wef.1_Nonsense_Mutation_p.Q597*|CDK12_uc002hrw.4_Nonsense_Mutation_p.Q598*	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	598					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGTGTCCTCTCAGGCAAATTC	0.488000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			60	136					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196274364	196274364	+	Splice_Site	SNP	C	C	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:196274364C>A	uc001gtd.1	-	22	2655	c.2595_splice	c.e22+1	p.K865_splice	KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.K791_splice|KCNT2_uc001gtf.1_Splice_Site_p.K841_splice|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Splice_Site_p.K841_splice|KCNT2_uc001gth.1_Splice_Site_p.K362_splice	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	865						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGGTCTTACCTTTTCCAGTT	0.338000													3	33					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85111074	85111074	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr16:85111074G>A	uc002fiu.3	+	5	838	c.618G>A	c.(616-618)gcG>gcA	p.A206A	KIAA0513_uc010voj.2_Silent_p.A206A|KIAA0513_uc002fit.3_Silent_p.A206A	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	206						cytoplasm		p.A206V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		AGAAGCCCGCGGGCAGCATCG	0.612000													10	23					0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28963131	28963131	+	Missense_Mutation	SNP	T	T	C	rs71732072		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:28963131T>C	uc003nlu.2	-	6	2159	c.1648A>G	c.(1648-1650)Act>Gct	p.T550A	ZNF311_uc011dlk.1_Missense_Mutation_p.T458A|ZNF311_uc003nlv.2_Missense_Mutation_p.T458A	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTCTCTCCAGTGTGAATTCTT	0.448000													4	72					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179565029	179565029	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:179565029G>A	uc003mlq.3	-	0	321	c.24C>T	c.(22-24)tcC>tcT	p.S8S	RASGEF1C_uc003mlr.3_Silent_p.S8S|RASGEF1C_uc003mlp.4_5'Flank	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	8					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACCATGTCGGAGGCACTCA	0.657000													5	105					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142063	29142063	+	Silent	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:29142063T>A	uc011dlm.2	+	0	753	c.651T>A	c.(649-651)acT>acA	p.T217T		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATTCTCACTACCTATGGTG	0.468000													6	70					0	0	1	0	0
DDIT4	54541	broad.mit.edu	37	10	74034783	74034783	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:74034783T>A	uc001jsx.1	+	2	738	c.536T>A	c.(535-537)cTg>cAg	p.L179Q	FU270201_uc021pst.1_5'Flank|FU270202_uc021psu.1_5'Flank	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	Homo sapiens DNA-damage-inducible transcript 4 (DDIT4), mRNA.	179					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						ACCCTCGTGCTGCGCCTGGAC	0.657000											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	31					0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000													5	9					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137519025	137519025	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:137519025G>T	uc003lcj.3	+	7	1496	c.1000G>T	c.(1000-1002)Gat>Tat	p.D334Y	KIF20A_uc011cyo.2_Missense_Mutation_p.D316Y	NM_005733	NP_005724	O95235	KI20A_HUMAN	Homo sapiens kinesin family member 20A (KIF20A), mRNA.	334	Kinesin-motor.				M phase of mitotic cell cycle|cytokinesis|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTATGCGAGGATCAAAATGG	0.488000													14	53					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40847632	40847632	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:40847632G>T	uc002iay.3	+	18	3302	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	1029					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding	p.S1029I(2)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617000													7	76					0	0	1	0	0
TCEA1	6917	broad.mit.edu	37	8	54900745	54900745	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:54900745C>T	uc003xru.3	-	4	718	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	TCEA1_uc003xrv.3_Missense_Mutation_p.R111Q|TCEA1_uc011ldw.2_Intron|TCEA1_uc003xrw.1_Non-coding_Transcript	NM_006756	NP_006747	P23193	TCEA1_HUMAN	Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 1, mRNA.	132					positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GCTTGGTGCCCGAGGAAAGGA	0.468000			T	PLAG1	salivary adenoma								7	22					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958241	121958241	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:121958241G>T	uc003idq.1	-	3	1412	c.885C>A	c.(883-885)aaC>aaA	p.N295K		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	295	Fibronectin type-III 1.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGATGTTCTTGTTTCCTATGC	0.458000													3	51					0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159710861	159710861	+	Silent	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:159710861A>G	uc003fcx.3	+	2	548	c.327A>G	c.(325-327)acA>acG	p.T109T	AK097161_uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.	75					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGATATCACAAAAGATAAAA	0.378000													4	74					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191862718	191862718	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:191862718T>G	uc010fse.2	-	7	1081	c.649A>C	c.(649-651)Ata>Cta	p.I217L	STAT1_uc021vue.1_Missense_Mutation_p.I29L|STAT1_uc002usj.2_Missense_Mutation_p.I217L|STAT1_uc002usk.2_Missense_Mutation_p.I217L|STAT1_uc002usl.2_Missense_Mutation_p.I219L|STAT1_uc010fsf.1_Missense_Mutation_p.I29L	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	217					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AACTCTATTATTTTGTGAACT	0.343000													15	27					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411866	40411866	+	Silent	SNP	C	C	T	rs144633711		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:40411866C>T	uc002omp.4	-	6	3770	c.3762G>A	c.(3760-3762)gcG>gcA	p.A1254A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1254	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTCTCCTGACGCCTGGCAGG	0.677000													17	58					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46043172	46043172	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:46043172C>A	uc003gxb.3	-	8	1383	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	411					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.D411N(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTGGCACAATCTTTGCCCTCC	0.438000													5	81					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54481902	54481902	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:54481902C>T	uc004dtg.3	-	11	2728	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H	FGD1_uc011moi.1_Missense_Mutation_p.R423H	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	665	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.R665L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCGAGGGAGCGCTGCTTTCC	0.557000													6	16					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42265850	42265850	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr20:42265850G>A	uc002xkw.3	+	11	1199	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_Silent_p.T359T	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA.	359						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TAGATGAAACGTTCTCCTCTG	0.418000													24	53					0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12977513	12977513	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:12977513G>T	uc001rav.3	+	11	1535	c.937G>T	c.(937-939)Gcc>Tcc	p.A313S	DDX47_uc009zhw.1_Missense_Mutation_p.A313S|DDX47_uc001rax.3_Missense_Mutation_p.A313S|DDX47_uc001ray.3_Missense_Mutation_p.A264S	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 (DDX47), transcript variant 1, mRNA.	313	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	p.A313S(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TAAGGCCAAGGCCCGTTCCAT	0.418000													4	31					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7229026	7229026	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:7229026C>T	uc002gga.1	-	6	1307	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N	GPS2_uc002ggb.1_Missense_Mutation_p.D434N|GPS2_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CCAATGTGGTCACCCTCCTAA	0.532000													12	53					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46991864	46991864	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:46991864A>G	uc003oyt.3	-	4	566	c.367T>C	c.(367-369)Tac>Cac	p.Y123H	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.Y123H	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTGTGAAGGTAGCAGTTCTGG	0.493000													21	33					0	0	1	0	0
CT45A5	441521	broad.mit.edu	37	X	134948025	134948025	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:134948025G>T	uc004eze.3	-	2	545	c.300C>A	c.(298-300)agC>agA	p.S100R	CT45A5_uc022ces.1_Missense_Mutation_p.S100R|CT45A5_uc011mvu.2_Missense_Mutation_p.S100R	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	100										endometrium(1)|large_intestine(2)|lung(6)	9						CAGAGAAATTGCTGGTAACAT	0.423000													76	53					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896163	43896163	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:43896163T>C	uc010skx.2	-	3	659	c.659A>G	c.(658-660)aAc>aGc	p.N220S		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	220						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCATTCATGTTGCTGTAGGT	0.323000													6	60					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55204129	55204129	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:55204129T>C	uc003jql.3	+	10	1583	c.1391T>C	c.(1390-1392)aTt>aCt	p.I464T	IL31RA_uc003jqk.3_Missense_Mutation_p.I464T|IL31RA_uc011cqj.2_Missense_Mutation_p.I322T|IL31RA_uc003jqm.3_Missense_Mutation_p.I445T|IL31RA_uc003jqn.3_Missense_Mutation_p.I464T|IL31RA_uc010iwa.1_Missense_Mutation_p.I432T|IL31RA_uc021xyq.1_Missense_Mutation_p.I445T|IL31RA_uc003jqo.3_Missense_Mutation_p.I322T	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	432	Fibronectin type-III 5.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGGAGAACATTGGCGTGAAG	0.483000													5	51					0	0	1	0	0
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr20:44258532A>T	uc002xoz.3	+	0	148	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_uc002xoy.3_Intron	NM_080753	NP_542791	Q9H1F0	WF10A_HUMAN	Homo sapiens WAP four-disulfide core domain 10A (WFDC10A), mRNA.	27						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587000											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	48					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741453	48741453	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:48741453C>T	uc002isl.3	+	9	1399	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V	ABCC3_uc002isk.4_Missense_Mutation_p.A440V|ABCC3_uc002ism.3_Silent_p.G152G	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	440	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ATCATCCTGGCGATCTACTTC	0.552000													7	131					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75264385	75264385	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:75264385C>T	uc001xqj.4	+	4	2509	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGCCAAGACCCAGATATGAAG	0.512000													3	8					0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281344	49281344	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr13:49281344G>C	uc010acw.1	+	1	681	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L	CYSLTR2_uc010acx.1_Missense_Mutation_p.V131L|CYSLTR2_uc010acy.1_Missense_Mutation_p.V131L|CYSLTR2_uc010acz.1_Missense_Mutation_p.V131L|CYSLTR2_uc010ada.1_Missense_Mutation_p.V131L|CYSLTR2_uc010adb.1_Missense_Mutation_p.V131L|CYSLTR2_uc010adc.1_Missense_Mutation_p.V131L|CYSLTR2_uc010add.1_Missense_Mutation_p.V131L|CYSLTR2_uc001vck.2_Missense_Mutation_p.V131L|CYSLTR2_uc021rjl.1_Missense_Mutation_p.V131L	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	131					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTTCCTGACCGTGCTGAGTGT	0.468000													48	149					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976139	131976139	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:131976139A>C	uc002tsn.2	+	0	216	c.164A>C	c.(163-165)aAg>aCg	p.K55T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	55							ATP binding										TCTGCTATGAAGACACTCAGG	0.607000													15	266					0	0	1	0	0
SECTM1	6398	broad.mit.edu	37	17	80282491	80282491	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:80282491T>A	uc002keo.3	-	2	768	c.370A>T	c.(370-372)Aga>Tga	p.R124*		NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA.	124					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|extracellular space|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CTGTTATTTCTCTGGTGTCCC	0.642000													3	66					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39595598	39595598	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:39595598G>A	uc002hwq.1	-	2	1012	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	197	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGCAGGGAGCGCTCACTCTCC	0.622000													4	66					0	0	1	0	0
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr18:8609872C>A	uc002knp.3	+	0	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G	RAB12_uc002kno.1_Silent_p.G145G	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	Homo sapiens RAB12, member RAS oncogene family (RAB12), mRNA.	49					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.G49G(2)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711000													10	19					0	0	1	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167705	130167705	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:130167705C>T	uc004bqu.3	+	8	1202	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	SLC2A8_uc010mxj.3_Intron	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	386						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACAGGCTTTGCGGTGGGCTGG	0.642000													3	62					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31359360	31359360	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr15:31359360T>C	uc021sia.1	-	4	889	c.575A>G	c.(574-576)aAa>aGa	p.K192R	TRPM1_uc010azy.3_Missense_Mutation_p.K66R|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.K175R|TRPM1_uc001zfm.3_Missense_Mutation_p.K153R|MIR211_uc010ubm.1_5'Flank|TRPM1_uc010ubn.1_5'Flank	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	153					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGTGGTCTTTCAAGGCATC	0.478000													3	86					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414337	20414337	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:20414337G>A	uc003zoe.2	-	4	766	c.507C>T	c.(505-507)agC>agT	p.S169S	MLLT3_uc011lne.1_Silent_p.S137S|MLLT3_uc011lnf.1_Silent_p.S166S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	169	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctactgc	0.542000			T	MLL	ALL								3	40					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712884	218712884	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:218712884G>A	uc002vgt.2	-	16	2379	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	TNS1_uc002vgr.2_Missense_Mutation_p.R661C|TNS1_uc002vgs.2_Missense_Mutation_p.R661C|TNS1_uc010zjv.1_Missense_Mutation_p.R661C|TNS1_uc010fvj.1_Missense_Mutation_p.R729C|TNS1_uc010fvk.1_Missense_Mutation_p.R786C|TNS1_uc010fvi.1_Missense_Mutation_p.R348C	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	661	Gln-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGAGGTGGGCGAGgctgctgc	0.667000													3	6					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76660739	76660739	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:76660739C>T	uc003pik.1	-	12	1494	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	455					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGAGAAGATGCTTGATGCCAT	0.483000													3	63					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193332788	193332788	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:193332788C>T	uc003ftg.3	+	1	543	c.309C>T	c.(307-309)ctC>ctT	p.L103L	OPA1_uc003fth.3_Silent_p.L103L|OPA1_uc003fti.3_Silent_p.L103L|OPA1_uc003ftj.3_Silent_p.L103L|OPA1_uc003ftk.3_Silent_p.L103L|OPA1_uc003ftl.3_Silent_p.L103L|OPA1_uc003ftm.3_Silent_p.L103L|OPA1_uc003ftn.3_Silent_p.L103L	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	103					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTCGCTATCTCATACTAGGAT	0.403000													5	60					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338463	19338463	+	Silent	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:19338463T>C	uc002nlz.3	+	7	2133	c.2034T>C	c.(2032-2034)taT>taC	p.Y678Y	NCAN_uc010ecc.1_Silent_p.Y242Y	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	678					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCAAGGTGTATTCCCTGCCTC	0.617000													6	200					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566503	55566503	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:55566503G>T	uc010qhq.2	-	34	5274	c.4879C>A	c.(4879-4881)Cca>Aca	p.P1627T	PCDH15_uc010qhr.2_Missense_Mutation_p.P1622T	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCTTAGTGGCTTCACCGCT	0.448000										HNSCC(58;0.16)			87	196					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148921395	148921395	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:148921395C>T	uc003wfm.3	+	7	1777	c.1672C>T	c.(1672-1674)Cac>Tac	p.H558Y	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.3_Silent_p.A234A	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	558					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTTCAACTGCCACTCGGGCCT	0.632000													6	29					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2764406	2764406	+	Splice_Site	SNP	T	T	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:2764406T>G	uc009zdu.1	+	36	4689	c.4376_splice	c.e36+2	p.R1459_splice	CACNA1C_uc001qkc.2_Splice_Site_p.R1411_splice|CACNA1C_uc001qjz.2_Splice_Site_p.R1411_splice|CACNA1C_uc001qkd.2_Splice_Site_p.R1411_splice|CACNA1C_uc001qke.2_Splice_Site_p.R1400_splice|CACNA1C_uc001qkf.2_Splice_Site_p.R1400_splice|CACNA1C_uc009zdw.1_Splice_Site_p.R1433_splice|CACNA1C_uc001qkg.2_Splice_Site_p.R1398_splice|CACNA1C_uc001qkh.2_Splice_Site_p.R1400_splice|CACNA1C_uc001qkl.2_Splice_Site_p.R1459_splice|CACNA1C_uc001qkj.2_Splice_Site_p.R1411_splice|CACNA1C_uc001qkk.2_Splice_Site_p.R1411_splice|CACNA1C_uc001qkn.2_Splice_Site_p.R1411_splice|CACNA1C_uc001qkm.2_Splice_Site_p.R1400_splice|CACNA1C_uc001qko.2_Splice_Site_p.R1431_splice|CACNA1C_uc001qkp.2_Splice_Site_p.R1411_splice|CACNA1C_uc001qkq.2_Splice_Site_p.R1439_splice|CACNA1C_uc001qku.2_Splice_Site_p.R1411_splice|CACNA1C_uc001qkr.2_Splice_Site_p.R1428_splice|CACNA1C_uc001qks.2_Splice_Site_p.R1411_splice|CACNA1C_uc001qkt.2_Splice_Site_p.R1411_splice|CACNA1C_uc009zdv.1_Splice_Site_p.R1408_splice|CACNA1C_uc001qkb.2_Splice_Site_p.R1411_splice|CACNA1C_uc001qki.1_Splice_Site_p.R1147_splice|CACNA1C_uc010sea.1_Splice_Site_p.R102_splice	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1459				R -> K (in Ref. 3; CAA81219).	axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCTCTTCAGGTGGGTCCCTGA	0.537000													2	13					0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211336687	211336687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:211336687C>T	uc010zjh.2	-	2	270	c.195G>A	c.(193-195)tgG>tgA	p.W65*	LANCL1_uc002ved.3_Nonsense_Mutation_p.W65*|LANCL1_uc010fuq.3_Nonsense_Mutation_p.W65*	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	65						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TCATACCTGCCCAGCCAGTGT	0.502000													108	395					0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22105704	22105704	+	Silent	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:22105704A>G	uc003xbl.3	+	4	482	c.399A>G	c.(397-399)ggA>ggG	p.G133G	POLR3D_uc003xbm.3_Silent_p.G133G|POLR3D_uc011kze.2_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	133					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAGACATGGGACCTTCTCATA	0.468000													7	34					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765240	141765240	+	Silent	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:141765240A>G	uc003vwy.3	+	37	4644	c.4590A>G	c.(4588-4590)gcA>gcG	p.A1530A		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1530	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACACGGCCGCATGGGATCAGC	0.612000													2	13					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132587	91132587	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:91132587G>A	uc004efk.2	+	1	2193	c.1348G>A	c.(1348-1350)Gca>Aca	p.A450T	PCDH11X_uc004efl.2_Missense_Mutation_p.A450T|PCDH11X_uc010nmv.2_Missense_Mutation_p.A450T|PCDH11X_uc004efm.2_Missense_Mutation_p.A450T|PCDH11X_uc004efn.2_Missense_Mutation_p.A450T|PCDH11X_uc004efo.2_Missense_Mutation_p.A450T|PCDH11X_uc004efh.2_Missense_Mutation_p.A450T|PCDH11X_uc004efj.1_Missense_Mutation_p.A450T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	450	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAATCAGTCAGCAATGCTCTT	0.418000													32	21					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545752	82545752	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:82545752C>T	uc003uhx.2	-	6	11839	c.11550G>A	c.(11548-11550)caG>caA	p.Q3850Q	PCLO_uc003uhv.2_Silent_p.Q3850Q|PCLO_uc010lec.3_Silent_p.Q815Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3781	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAATGCCATGCTGACTTTCTA	0.473000													14	293					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17413717	17413717	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:17413717G>T	uc010hev.3	-	13	1109	c.845C>A	c.(844-846)cCc>cAc	p.P282H	TBC1D5_uc003cbf.3_Missense_Mutation_p.P282H|TBC1D5_uc003cbe.3_Missense_Mutation_p.P282H|TBC1D5_uc010hew.1_Missense_Mutation_p.P234H	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	282	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAAGGGAATGGGAGTCATCAG	0.328000													3	70					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228444583	228444583	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:228444583G>A	uc009xez.1	+	14	4585	c.4541G>A	c.(4540-4542)tGc>tAc	p.C1514Y	OBSCN_uc001hsn.3_Missense_Mutation_p.C1514Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1514	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTACAGCTGCGAGGCGGGG	0.647000													15	39					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061243	38061243	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:38061243T>A	uc001wuf.3	-	1	1058	c.746A>T	c.(745-747)gAc>gTc	p.D249V	FOXA1_uc010tpz.2_Missense_Mutation_p.D216V	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	249					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTGCCGGAGTCCGGGTGCAG	0.667000													13	21					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4884982	4884982	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:4884982T>G	uc010cku.2	-	6	1037	c.625A>C	c.(625-627)Aag>Cag	p.K209Q	CAMTA2_uc002gag.2_Missense_Mutation_p.K185Q|CAMTA2_uc002gah.2_Missense_Mutation_p.K186Q|CAMTA2_uc002gai.2_Missense_Mutation_p.K188Q|CAMTA2_uc010ckv.1_5'Flank|CAMTA2_uc010vsu.2_5'UTR	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	186					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						CACATGGGCTTCAGCTGTCCC	0.602000													3	70					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234591302	234591302	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:234591302C>T	uc002vut.3	+	0	719	c.719C>T	c.(718-720)aCg>aTg	p.T240M	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.T240M	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	243					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACCCCTGTCACGGCATATGAT	0.408000													28	514					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	1028558	1028558	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:1028558T>C	uc002fsd.3	-	1	316	c.206A>G	c.(205-207)gAt>gGt	p.D69G	ABR_uc002fse.3_Missense_Mutation_p.D23G|ABR_uc010cjq.1_Missense_Mutation_p.D81G	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	69					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGAGACGCCATCCCCCCCGCC	0.677000													3	85					0	0	1	0	0
CHRAC1	54108	broad.mit.edu	37	8	141525311	141525311	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:141525311G>C	uc003yvl.3	+	2	563	c.361G>C	c.(361-363)Gat>Cat	p.D121H	CHRAC1_uc010mem.2_Non-coding_Transcript|CHRAC1_uc022bbv.1_Non-coding_Transcript	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	Homo sapiens chromatin accessibility complex 1 (CHRAC1), transcript variant 1, mRNA.	121					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAATGACAATGATAATGAAAG	0.383000													7	67					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155131226	155131226	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:155131226C>G	uc003qqa.3	+	12	1536	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	SCAF8_uc011efj.2_Nonsense_Mutation_p.S501*|SCAF8_uc011efk.2_Nonsense_Mutation_p.S480*|SCAF8_uc003qpz.3_Nonsense_Mutation_p.S435*|SCAF8_uc010kji.3_Nonsense_Mutation_p.S456*	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	435	Arg-rich.				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding	p.R434S(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CGCTCCCGCTCAAGAGAAAGA	0.423000													8	89					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241814527	241814527	+	Splice_Site	SNP	A	A	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:241814527A>C	uc002waa.4	+	7	802	c.681_splice	c.e7-1	p.K227_splice	AGXT_uc002wab.4_5'Flank	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	227					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCTCCCCAGAAAGAAGATGTA	0.587000													16	37					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471984	47471984	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:47471984G>T	uc001rpm.3	-	2	1457	c.802C>A	c.(802-804)Cac>Aac	p.H268N	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.H268N|AMIGO2_uc001rpl.3_Missense_Mutation_p.H268N|AMIGO2_uc021qxg.1_Missense_Mutation_p.H268N	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	268	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.H268N(4)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGACGCGAGTGCCTGGAGTCA	0.478000													5	58					0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964683	48964683	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:48964683G>T	uc010kyv.1	+	0	527	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		CAGAGATGCTGCCTATGGAAG	0.383000													10	30					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907873	103907873	+	Missense_Mutation	SNP	G	G	A	rs138983347		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:103907873G>A	uc001phr.2	+	0	566	c.323G>A	c.(322-324)cGt>cAt	p.R108H	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	108					proteolysis		aspartic-type endopeptidase activity	p.R108C(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCAGCTCCCGTCCACAGCAC	0.672000													31	67					0	0	1	0	0
GDAP1	54332	broad.mit.edu	37	8	75276269	75276269	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:75276269C>T	uc003yah.3	+	5	823	c.744C>T	c.(742-744)gaC>gaT	p.D248D	GDAP1_uc011lfj.2_Silent_p.D133D|GDAP1_uc003yai.3_Silent_p.D180D	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	248	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCCTGGCAGACGTCTCACTCG	0.502000													4	38					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805205	54805205	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:54805205A>T	uc003pck.3	+	4	1552	c.1436A>T	c.(1435-1437)cAa>cTa	p.Q479L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	479										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTTTGCAACAACGAATGCCA	0.403000													4	111					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75445550	75445550	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:75445550G>C	uc004aiz.1	+	22	2752	c.2212G>C	c.(2212-2214)Gct>Cct	p.A738P	TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.A592P|TMC1_uc010mpa.1_Intron	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	738					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTGTAGCAAGCTTTGGAGAA	0.303000													6	15					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr18:15323276A>T	uc002ktd.1	-	2		c.183T>A								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		ATCAACTGCAATTGCATTTGC	0.308000													2	5					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346690	48346690	+	Silent	SNP	C	C	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:48346690C>A	uc010rhv.2	+	0	198	c.198C>A	c.(196-198)ggC>ggA	p.G66G		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CGGTTTGTGGCAACATGCTCA	0.453000													3	67					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90363906	90363906	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:90363906T>C	uc003pnn.1	-	92	15754	c.15638A>G	c.(15637-15639)aAg>aGg	p.K5213R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5213					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGTGCCCGACTTGATTTCCTC	0.522000													46	103					0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132201005	132201005	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:132201005C>T	uc002tst.2	-	0	1463	c.997G>A	c.(997-999)Gac>Aac	p.D333N						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CTGCTGAAGTCGACCTGCTGG	0.602000													8	24					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79571786	79571786	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:79571786C>T	uc001jzk.3	-	21	4288	c.4218G>A	c.(4216-4218)acG>acA	p.T1406T	DLG5_uc001jzi.3_Silent_p.T161T|DLG5_uc001jzj.3_Silent_p.T821T|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1406	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTGCTGCTCCGTGGCGCTCC	0.652000													6	105					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40477031	40477031	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:40477031T>C	uc002hzl.1	-	15	1654	c.1414A>G	c.(1414-1416)Aat>Gat	p.N472D	STAT3_uc002hzk.1_Missense_Mutation_p.N472D|STAT3_uc002hzm.1_Missense_Mutation_p.N472D|STAT3_uc010wgh.1_Missense_Mutation_p.N374D|STAT3_uc002hzn.1_Missense_Mutation_p.N472D	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	472					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCCCAGGCATTTGGCATCTGA	0.577000									Hyperimmunoglobulin E Recurrent Infection Syndrome				5	136					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397722	179397722	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:179397722A>T	uc021vsy.1	-	306	96141	c.95916T>A	c.(95914-95916)taT>taA	p.Y31972*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.Y25667*|TTN_uc021vta.1_Nonsense_Mutation_p.Y25600*|TTN_uc021vtb.1_Nonsense_Mutation_p.Y25475*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32899	Ig-like 142.						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)			CTGGTACATCATAAGGCATCC	0.438000													34	120					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52957171	52957171	+	Splice_Site	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:52957171T>C	uc001wzs.3	-	11	1373	c.924_splice	c.e11-1	p.R308_splice	TXNDC16_uc010tqu.2_Splice_Site_p.R303_splice|TXNDC16_uc010aoe.3_Splice_Site	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	308					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AAAGAGTCCCTTTTTCAAAAT	0.303000													2	21					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815648	23815648	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:23815648G>A	uc003gqs.3	-	7	1578	c.1458C>T	c.(1456-1458)gaC>gaT	p.D486D	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	486					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGAAATCACTGTCCCTCAGTT	0.453000													34	102					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64532245	64532245	+	Silent	SNP	C	C	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:64532245C>G	uc001xgl.3	+	50	10538	c.10308C>G	c.(10306-10308)ggC>ggG	p.G3436G	SYNE2_uc001xgm.3_Silent_p.G3436G|SYNE2_uc021ruh.1_Silent_p.G3469G|SYNE2_uc010apw.1_Silent_p.G142G	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3436					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAATGATGGCATATGTTTGC	0.443000													5	51					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75445552	75445552	+	Silent	SNP	T	T	G	rs111387206		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:75445552T>G	uc004aiz.1	+	22	2754	c.2214T>G	c.(2212-2214)gcT>gcG	p.A738A	TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.A592A|TMC1_uc010mpa.1_Intron	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	738					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTAGCAAGCTTTGGAGAACA	0.299000													6	15					0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13321294	13321294	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:13321294T>C	uc003naj.3	-	3	335	c.227A>G	c.(226-228)aAg>aGg	p.K76R	TBC1D7_uc011dis.2_Non-coding_Transcript|TBC1D7_uc003nal.3_Missense_Mutation_p.K76R|TBC1D7_uc003nan.3_Missense_Mutation_p.K76R|TBC1D7_uc003nam.3_Missense_Mutation_p.K76R|TBC1D7_uc003nao.3_Missense_Mutation_p.K49R|TBC1D7_uc010jpd.3_Missense_Mutation_p.K76R|TBC1D7_uc003naq.3_Missense_Mutation_p.K49R	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.	76	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CATCATCACCTTGGCATGGGA	0.463000													17	257					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7575021	7575021	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:7575021G>A	uc003mxp.1	+	16	2708	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E	DSP_uc003mxq.1_Missense_Mutation_p.G810E|DSP_uc021yle.1_Missense_Mutation_p.G810E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	810	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.G810E(2)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCGCTGTGGACTGAAGGTA	0.438000													9	37					0	0	1	0	0
ZNF154	7710	broad.mit.edu	37	19	58213660	58213660	+	Silent	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:58213660A>G	uc010euf.3	-	2	897	c.657T>C	c.(655-657)tgT>tgC	p.C219C	ZNF551_uc002qpx.3_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	Homo sapiens zinc finger protein 154 (ZNF154), mRNA.	219						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACATTCATCACATTCATGAG	0.433000													34	73					0	0	1	0	0
DKFZp666K117	0	broad.mit.edu	37	13	32527092	32527092	+	RNA	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr13:32527092G>A	uc001utu.2	+	3		c.850G>A			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		CCCCGGCCAAGAAGCTAGCCA	0.617000													4	87					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17885263	17885263	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:17885263G>A	uc003stv.3	-	11	1333	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	SNX13_uc010kuc.3_Silent_p.L171L|SNX13_uc003stw.1_Silent_p.L374L	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	374	RGS.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATGCTGTCCAGGGGGACTGTG	0.323000													4	12					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10647847	10647847	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:10647847G>A	uc010rcc.1	-	8	1420	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	MRVI1_uc010rcb.1_Missense_Mutation_p.P337L|MRVI1_uc001miw.2_Missense_Mutation_p.P336L|MRVI1_uc001mix.3_Missense_Mutation_p.P30L|MRVI1_uc001miz.2_Missense_Mutation_p.P254L|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Missense_Mutation_p.P30L|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	318					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGACTTCTCGGCAGAGGGCT	0.672000													7	12					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150500789	150500789	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:150500789T>C	uc003whx.1	+	4	502	c.424T>C	c.(424-426)Tat>Cat	p.Y142H	TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	142						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGATTTCCGATATGGCTACTC	0.552000													8	130					0	0	1	0	0
C1QL4	338761	broad.mit.edu	37	12	49729849	49729849	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:49729849C>T	uc001rtz.1	-	0	1123	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	Homo sapiens complement component 1, q subcomponent-like 4 (C1QL4), mRNA.	138	C1q.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCCTCGTAGGCGTTGCCCACG	0.652000													10	14					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													2	3					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57674222	57674222	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:57674222C>T	uc009zpm.1	-	11	1256	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Silent_p.Q68Q|R3HDM2_uc001snr.2_Silent_p.Q134Q|R3HDM2_uc001sns.2_Silent_p.Q407Q|R3HDM2_uc001snt.2_Silent_p.Q421Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	407	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						gctgctgctgctgttgctgct	0.567000													3	73					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786682	35786682	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:35786682G>A	uc002nyy.2	+	3	411	c.213G>A	c.(211-213)ccG>ccA	p.P71P	MAG_uc002nyx.2_Silent_p.P71P|MAG_uc010eds.2_Silent_p.P46P|MAG_uc002nyz.2_Silent_p.P71P	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	71	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.P71P(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACTACCCCCCGGTGGTCTTCA	0.637000													10	203					0	0	1	0	0
ARPC5L	81873	broad.mit.edu	37	9	127637421	127637421	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:127637421G>C	uc004bpa.4	+	2	476	c.390G>C	c.(388-390)tgG>tgC	p.W130C		NM_030978	NP_112240	Q9BPX5	ARP5L_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 5-like (ARPC5L), mRNA.	130					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|lung(1)	3						TACTCCAGTGGCACGAAAAGG	0.507000													8	48					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775621	77775621	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:77775621C>G	uc003yau.2	+	10	10058	c.9671C>G	c.(9670-9672)tCt>tGt	p.S3224C		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3175						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAATCTCATCTGCTCTTTCA	0.413000										HNSCC(33;0.089)			3	88					0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21098913	21098913	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr18:21098913G>T	uc021uie.1	+	7	834	c.713G>T	c.(712-714)gGa>gTa	p.G238V	C18orf8_uc010xau.1_Missense_Mutation_p.G81V|C18orf8_uc010xav.1_Missense_Mutation_p.G190V|C18orf8_uc010xaw.1_Missense_Mutation_p.G81V	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	238								p.G238V(2)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACAGCACAGGAGCGGAGGTG	0.438000													14	46					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46660093	46660093	+	Missense_Mutation	SNP	A	A	T	rs74443068	byFrequency	TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:46660093A>T	uc003oyj.3	+	0	4482	c.4228A>T	c.(4228-4230)Ata>Tta	p.I1410L	TDRD6_uc010jze.3_Missense_Mutation_p.I1410L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1410	Tudor 6.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTTAATGCAATATTGCCGGG	0.403000													94	206					0	0	1	0	0
ALG14	199857	broad.mit.edu	37	1	95538385	95538385	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:95538385delC	uc001dra.2	-	0	123	c.70delG	c.(70-72)gtafs	p.V24fs		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae) (ALG14), mRNA.	24					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		CGAAGCACTACCCATATTCGC	0.577													9	146	---	---	---	---					
TOP2B	7155	broad.mit.edu	37	3	25654130	25654130	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:25654130delC	uc011awn.1	-	27	3705	c.3662delG	c.(3661-3663)ggcfs	p.G1221fs	TOP2B_uc003cdj.2_Frame_Shift_Del_p.G1216fs|TOP2B_uc011awm.1_Frame_Shift_Del_p.G73fs	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	1221					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.G1216D(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CTTAGGTTTGCCAACTTTACC	0.408													37	111	---	---	---	---					
UTP15	84135	broad.mit.edu	37	5	72866487	72866502	+	Frame_Shift_Del	DEL	AGTGGAGAGTGTCCTA	-	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:72866487_72866502delAGTGGAGAGTGTCCTA	uc003kcw.1	+	5	847_862	c.624_639delAGTGGAGAGTGTCCTA	c.(622-639)ccagtggagagtgtcctafs	p.P208fs	UTP15_uc011cso.1_Frame_Shift_Del_p.P189fs|UTP15_uc011csp.1_Frame_Shift_Del_p.P18fs|UTP15_uc010ize.1_Frame_Shift_Del_p.P208fs	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	208					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		ATGGGCAGCCAGTGGAGAGTGTCCTACTTTTCCCCT	0.398													9	162	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115813744	115813744	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:115813744delG	uc003krx.4	-	13	2243	c.1534delC	c.(1534-1536)cttfs	p.L512fs	SEMA6A_uc010jck.3_Frame_Shift_Del_p.L512fs|SEMA6A_uc003krw.4_Frame_Shift_Del_p.L44fs|SEMA6A_uc010jcj.3_Frame_Shift_Del_p.L56fs	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	512	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CACCGGCCAAGGGGAACCTTT	0.463													31	125	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118507503	118507504	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:118507503_118507504insT	uc010jcl.1	+	24	6701_6702	c.6520_6521insT	c.(6520-6522)ctgfs	p.L2174fs	DMXL1_uc003ksd.2_Frame_Shift_Ins_p.L2174fs|DMXL1_uc021ycw.1_Frame_Shift_Ins_p.L2001fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2174										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCTAGCCCTCTGTCAGAGCAA	0.381													52	170	---	---	---	---					
CACNA1H	8912	broad.mit.edu	37	16	1270653	1270653	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr16:1270653delG	uc002cks.3	+	34	6969	c.6721delG	c.(6721-6723)gggfs	p.G2241fs	CACNA1H_uc002ckt.3_Frame_Shift_Del_p.G2235fs|CACNA1H_uc002cku.3_Frame_Shift_Del_p.G936fs|CACNA1H_uc010brj.3_Frame_Shift_Del_p.G952fs|CACNA1H_uc002ckv.3_Frame_Shift_Del_p.G930fs	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2241					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTCAGGCGCCGGGGGGGACCC	0.731													2	4	---	---	---	---					
MLLT1	4298	broad.mit.edu	37	19	6222272	6222274	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:6222272_6222274delAGG	uc002mek.3	-	5	1132_1134	c.968_970delCCT	c.(967-972)tccttc>ttc	p.S323del		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	323	Poly-Ser.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TTGTCCGAGAAGGAGGAGGAGGA	0.650			T	MLL	AL								9	80	---	---	---	---					
MAGEC3	139081	broad.mit.edu	37	X	140969484	140969484	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:140969484delC	uc011mwp.2	+	3	811	c.811delC	c.(811-813)cccfs	p.P271fs		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	271	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGCATGCCCCAGAACCG	0.498													86	61	---	---	---	---					
