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
EEF1A1	1915	broad.mit.edu	37	6	74229717	74229717	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:74229717G>A	ENST00000316292.9	-	1	1024	c.33C>T	c.(31-33)gtC>gtT	p.V11V	EEF1A1_ENST00000331523.2_Silent_p.V11V|EEF1A1_ENST00000309268.6_Silent_p.V11V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	11						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTCCAATGACGACAATGTTGA	0.418000													15	127					0	0	0.146539	0	0
TCTN1	79600	broad.mit.edu	37	12	111078307	111078307	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111078307G>C	ENST00000551590.1	+	8	1119	c.963G>C	c.(961-963)gtG>gtC	p.V321V	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Silent_p.V307V|TCTN1_ENST00000377654.3_Silent_p.V143V|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000397659.4_Silent_p.V321V			Q2MV58	TECT1_HUMAN	tectonic family member 1	321					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GCCTTTGCGTGAATGTTGTTC	0.542000													16	101					0	0	0.049695	0	0
ZER1	10444	broad.mit.edu	37	9	131515013	131515013	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:131515013C>T	ENST00000291900.2	-	5	1268	c.862G>A	c.(862-864)Ggc>Agc	p.G288S		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	288					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						ATCATGTGGCCAGAGATGTCC	0.577000													3	78					0	0	0.115264	0	0
NDC1	55706	broad.mit.edu	37	1	54233687	54233687	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:54233687C>T	ENST00000371429.3	-	18	2579	c.1981G>A	c.(1981-1983)Gaa>Aaa	p.E661K	NDC1_ENST00000234725.8_Missense_Mutation_p.E546K|NDC1_ENST00000537333.1_Missense_Mutation_p.E326K|NDC1_ENST00000540001.1_3'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTCTGATGTTCTGCAGATGCT	0.338000													9	73					0	0	0.080935	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606906	84606906	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:84606906C>G	ENST00000344803.2	+	4	1568	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCTGGGGTCTCCCATCTTTGC	0.438000													30	83					0	0	0.116897	0	0
GNAI1	2770	broad.mit.edu	37	7	79764544	79764544	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:79764544T>C	ENST00000351004.3	+	1	441	c.68T>C	c.(67-69)cTc>cCc	p.L23P	GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	23					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GACCGCAACCTCCGTGAGGAC	0.731000													9	12					0	0	0.058154	0	0
BBX	56987	broad.mit.edu	37	3	107492201	107492201	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492201G>A	ENST00000415149.2	+	11	1960	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.D545N|BBX_ENST00000325805.8_Missense_Mutation_p.D545N|BBX_ENST00000406780.1_Missense_Mutation_p.D545N	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAATCCTCAGACACCACCAA	0.428000													20	54					0	0	0.098360	0	0
DST	667	broad.mit.edu	37	6	56470575	56470575	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:56470575C>T	ENST00000370754.5	-	39	8751	c.8752G>A	c.(8752-8754)Gaa>Aaa	p.E2918K	DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.E2414K|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.E2740K|DST_ENST00000370769.4_Missense_Mutation_p.E2740K|DST_ENST00000361203.3_Missense_Mutation_p.E2740K|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2740					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTACCTAATTCAGAAGTTGAA	0.333000													15	53					0	0	0.119110	0	0
ESPNP	284729	broad.mit.edu	37	1	17017742	17017742	+	RNA	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:17017742G>A	ENST00000492551.1	-	0	1985					NR_026567.1																						TCCGCAGGAGGTCCCACCTCC	0.657000													6	28					0	0	0.029380	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278704	36278704	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:36278704C>T	ENST00000007510.4	+	21	3381	c.3237C>T	c.(3235-3237)ctC>ctT	p.L1079L	ARHGAP33_ENST00000314737.5_Silent_p.L918L|ARHGAP33_ENST00000378944.5_Silent_p.L915L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1079					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGCACCACTCGACAGGGGAG	0.672000													39	100					0	0	0.086207	0	0
MARCH7	64844	broad.mit.edu	37	2	160604337	160604337	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:160604337C>T	ENST00000259050.3	+	5	658	c.536C>T	c.(535-537)tCa>tTa	p.S179L	MARCH7_ENST00000539065.1_Missense_Mutation_p.S123L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S179L|MARCH7_ENST00000409591.1_Missense_Mutation_p.S141L|MARCH7_ENST00000473749.1_3'UTR	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	179	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AGAGTTCCTTCATATTCACAA	0.328000													58	67					0	0	0.139131	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			102	64					0	0	0.139131	0	0
GPKOW	27238	broad.mit.edu	37	X	48972603	48972603	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:48972603C>G	ENST00000156109.5	-	7	1066	c.988G>C	c.(988-990)Gag>Cag	p.E330Q		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	330						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CGCTTCCTCTCTGAGTTGTCC	0.572000													11	126					0	0	0.105934	0	0
UPP2	151531	broad.mit.edu	37	2	158971685	158971685	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:158971685G>C	ENST00000605860.1	+	6	470	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	UPP2_ENST00000005756.4_Missense_Mutation_p.E85Q|UPP2_ENST00000409859.4_Missense_Mutation_p.E142Q|UPP2_ENST00000460456.1_Intron			O95045	UPP2_HUMAN	uridine phosphorylase 2	85					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GCTCGGGTTTGAGGAAGCTGA	0.463000													15	179					0	0	0.146539	0	0
DPY19L2	283417	broad.mit.edu	37	12	63974572	63974572	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:63974572G>C	ENST00000324472.4	-	19	1953	c.1770C>G	c.(1768-1770)atC>atG	p.I590M	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I37M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	590					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAATGCCAAAGATAACCTTCT	0.373000													29	86					0	0	0.134883	0	0
CRY1	1407	broad.mit.edu	37	12	107393468	107393468	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:107393468C>T	ENST00000008527.5	-	7	1865	c.998G>A	c.(997-999)gGc>gAc	p.G333D		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	333	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GCCTGTCCGGCCTTCCGCCCA	0.473000													27	45					0	0	0.099896	0	0
FGD1	2245	broad.mit.edu	37	X	54476730	54476730	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54476730C>G	ENST00000375135.3	-	13	2753	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	674	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	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			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						TTCTCCTCCTCAGTCCTTGGG	0.478000													15	235					0	0	0.146539	0	0
NLRC5	84166	broad.mit.edu	37	16	57060138	57060138	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:57060138C>T	ENST00000436936.1	+	6	1508	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	NLRC5_ENST00000308149.7_Missense_Mutation_p.S428F|NLRC5_ENST00000539144.1_Missense_Mutation_p.S428F|NLRC5_ENST00000262510.6_Missense_Mutation_p.S428F			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	428	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGGCCAGTCTGTGGCCCTC	0.637000													72	111					0	0	0.139131	0	0
PTCHD3	374308	broad.mit.edu	37	10	27700799	27700799	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:27700799C>T	ENST00000438700.3	-	2	1266	c.1149G>A	c.(1147-1149)gtG>gtA	p.V383V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	383	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ACACAGGGATCACAGTCACAG	0.358000													10	58					0	0	0.069234	0	0
RASGRF2	5924	broad.mit.edu	37	5	80390809	80390809	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:80390809C>G	ENST00000265080.4	+	12	1820	c.1753C>G	c.(1753-1755)Cag>Gag	p.Q585E		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	585	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGACATCAGTCAGGTAAGAAA	0.383000													14	75					0	0	0.105934	0	0
FFAR2	2867	broad.mit.edu	37	19	35941408	35941408	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:35941408C>G	ENST00000599180.1	+	2	872	c.792C>G	c.(790-792)ctC>ctG	p.L264L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L264L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	264						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCAGTTCACTCAACGCCAGTC	0.582000													53	196					0	0	0.139131	0	0
SWAP70	23075	broad.mit.edu	37	11	9735026	9735026	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:9735026T>C	ENST00000318950.6	+	3	357	c.254T>C	c.(253-255)tTt>tCt	p.F85S	SWAP70_ENST00000447399.2_Intron	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	85						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CAAGACAACTTTGACAAGATT	0.358000													47	86					0	0	0.117977	0	0
LMLN	89782	broad.mit.edu	37	3	197712706	197712706	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:197712706G>C	ENST00000330198.4	+	8	896	c.874G>C	c.(874-876)Gat>Cat	p.D292H	LMLN_ENST00000420910.2_Missense_Mutation_p.D292H|LMLN_ENST00000482695.1_Missense_Mutation_p.D240H|LMLN_ENST00000332636.5_Missense_Mutation_p.D240H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	292					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCATGATAAAGATGGAAATCC	0.403000													26	278					0	0	0.054565	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29884920	29884920	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:29884920G>A	ENST00000308713.5	-	13	2762	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	SEZ6L2_ENST00000346932.5_Silent_p.L631L|SEZ6L2_ENST00000350527.3_Silent_p.L675L|SEZ6L2_ENST00000537485.1_Silent_p.L701L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	745	Sushi 4.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTAGCAGGTGAGCATGGCTG	0.687000													11	65					0	0	0.080935	0	0
MXRA5	25878	broad.mit.edu	37	X	3228112	3228112	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:3228112C>A	ENST00000217939.6	-	7	8286	c.8132G>T	c.(8131-8133)tGc>tTc	p.C2711F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2711	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCCATCCTGCATACATAGGT	0.607000													36	112					3.11337e-16	3.36643e-16	0.054565	1	0
KIAA1279	26128	broad.mit.edu	37	10	70775627	70775627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:70775627G>T	ENST00000361983.4	+	7	1423	c.1321G>T	c.(1321-1323)Gag>Tag	p.E441*		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	441					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AACTGACATGGAGAGACGGTG	0.433000													64	127					6.56249e-45	7.38701e-45	0.139131	1	0
BOC	91653	broad.mit.edu	37	3	112968688	112968688	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:112968688G>T	ENST00000495514.1	+	3	743	c.39G>T	c.(37-39)agG>agT	p.R13S	BOC_ENST00000355385.3_Missense_Mutation_p.R13S|BOC_ENST00000484034.1_Missense_Mutation_p.R13S|BOC_ENST00000273395.4_Missense_Mutation_p.R13S|BOC_ENST00000485230.1_Missense_Mutation_p.R13S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	13					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GAGGAATGAGGCCTGAGGTCA	0.552000													16	126					3.62473e-10	3.84362e-10	0.062417	1	0
PTPN13	5783	broad.mit.edu	37	4	87705639	87705639	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:87705639G>A	ENST00000436978.1	+	38	6541	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K	PTPN13_ENST00000427191.2_Missense_Mutation_p.E1997K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E2016K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E2021K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1825K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2016						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAAATAAATGAAATATCGTA	0.378000													4	37					0	0	0.009096	0	0
SOX14	8403	broad.mit.edu	37	3	137484129	137484129	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:137484129C>T	ENST00000306087.1	+	1	551	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	168					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCCTACGCGTCCACCCTGGGC	0.687000													9	11					0	0	0.058154	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671931	39671931	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:39671931C>T	ENST00000398930.1	+	4	1102	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	KCNJ15_ENST00000328656.3_Silent_p.L250L|KCNJ15_ENST00000398932.1_Silent_p.L250L|KCNJ15_ENST00000398938.2_Silent_p.L250L|KCNJ15_ENST00000398934.1_Silent_p.L250L			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	250					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CTTCCTCATTCTGCCCATGAC	0.557000													35	66					0	0	0.059317	0	0
IFT140	9742	broad.mit.edu	37	16	1608111	1608111	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:1608111C>T	ENST00000426508.2	-	19	2587	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	742										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGCTCCACCTCGTCTTCTCTG	0.567000													17	242					0	0	0.038395	0	0
HSPG2	3339	broad.mit.edu	37	1	22158995	22158995	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:22158995C>T	ENST00000374695.3	-	81	11279	c.11200G>A	c.(11200-11202)Gag>Aag	p.E3734K		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3734	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CACCGGAACTCGGGCCTTCCC	0.632000													16	103					0	0	0.146539	0	0
FAM47A	158724	broad.mit.edu	37	X	34148687	34148687	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:34148687G>A	ENST00000346193.3	-	1	1760	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	570										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGGCTCCGAGAATTGATG	0.522000													10	125					0	0	0.058154	0	0
CFTR	1080	broad.mit.edu	37	7	117232003	117232003	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:117232003G>A	ENST00000003084.6	+	14	1914	c.1782G>A	c.(1780-1782)ctG>ctA	p.L594L	CFTR_ENST00000454343.1_Silent_p.L533L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	594	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTGTAAACTGATGGCTAACA	0.259000									Cystic Fibrosis				12	108					0	0	0.080935	0	0
MIA3	375056	broad.mit.edu	37	1	222801826	222801826	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:222801826G>C	ENST00000344922.5	+	4	1289	c.1264G>C	c.(1264-1266)Gat>Cat	p.D422H	MIA3_ENST00000344507.1_Missense_Mutation_p.D422H|MIA3_ENST00000344441.6_Missense_Mutation_p.D422H|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	422					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATTAGTCCCAGATAGCAAACA	0.383000													16	144					0	0	0.132662	0	0
RPL4	6124	broad.mit.edu	37	15	66791763	66791763	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:66791763C>T	ENST00000307961.6	-	10	1358	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	RPL4_ENST00000568588.1_Silent_p.E328E	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	422	Lys-rich.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGGCTTCTTCTCCTCTGTAG	0.413000													9	156					0	0	0.105934	0	0
SHC4	399694	broad.mit.edu	37	15	49176472	49176472	+	Silent	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:49176472G>T	ENST00000332408.4	-	4	1241	c.813C>A	c.(811-813)ctC>ctA	p.L271L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	271	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TCATCAATGTGAGACTGCATG	0.338000													18	63					2.94398e-08	3.09189e-08	0.043863	1	0
CENPO	79172	broad.mit.edu	37	2	25039552	25039552	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:25039552G>C	ENST00000380834.2	+	6	1057	c.632G>C	c.(631-633)aGa>aCa	p.R211T	CENPO_ENST00000260662.1_Missense_Mutation_p.R211T|CENPO_ENST00000395845.2_Intron|CENPO_ENST00000473706.1_Missense_Mutation_p.R205T			Q9BU64	CENPO_HUMAN	centromere protein O	211					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCTTGCAGAGAAACCCACTG	0.493000													267	573					0	0	0.139131	0	0
GLS2	27165	broad.mit.edu	37	12	56865620	56865620	+	Splice_Site	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:56865620C>T	ENST00000311966.4	-	17	1867	c.1588_splice	c.e17-1	p.G530_splice		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	530					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCGATGTGTCCTAGGAATAT	0.483000													69	150					0	0	0.139131	0	0
NALCN	259232	broad.mit.edu	37	13	101756771	101756771	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:101756771C>T	ENST00000251127.6	-	25	2845	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	922						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACACATACTCAGCAATCTGA	0.423000													6	101					0	0	0.021553	0	0
AIM1L	55057	broad.mit.edu	37	1	26648788	26648788	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:26648788C>G	ENST00000527815.1	-	18	2191	c.2142G>C	c.(2140-2142)gtG>gtC	p.V714V	AIM1L_ENST00000308182.5_Silent_p.V543V	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	543							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGGGTCCAATCACCTGTAGGC	0.632000													7	98					0	0	0.029380	0	0
UNC5D	137970	broad.mit.edu	37	8	35631911	35631911	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:35631911G>T	ENST00000287272.2	+	15	2386	c.2366G>T	c.(2365-2367)aGa>aTa	p.R789I	UNC5D_ENST00000416672.1_Missense_Mutation_p.R863I|UNC5D_ENST00000449677.1_Missense_Mutation_p.R434I|UNC5D_ENST00000420357.1_Missense_Mutation_p.R791I|UNC5D_ENST00000404895.2_Missense_Mutation_p.R858I|UNC5D_ENST00000453357.2_Missense_Mutation_p.R853I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	858					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TACTCCATCAGACAGCGGATT	0.473000													32	83					1.30897e-18	1.44382e-18	0.144211	1	0
MAP3K5	4217	broad.mit.edu	37	6	136888996	136888996	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:136888996G>A	ENST00000359015.4	-	26	3894	c.3534C>T	c.(3532-3534)ttC>ttT	p.F1178F	MAP3K5_ENST00000355845.4_Silent_p.F425F	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1178					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGCAAGGCTGAAATGTGGCC	0.408000													48	106					0	0	0.139131	0	0
P4HTM	54681	broad.mit.edu	37	3	49040007	49040007	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:49040007C>G	ENST00000343546.4	+	4	1070	c.702C>G	c.(700-702)atC>atG	p.I234M	P4HTM_ENST00000468374.1_3'UTR|P4HTM_ENST00000383729.4_Missense_Mutation_p.I234M	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	234	EF-hand 2.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACGCCGCGATCAAGGCTGACC	0.562000													53	52					0	0	0.139131	0	0
PLXNA3	55558	broad.mit.edu	37	X	153689684	153689684	+	Silent	SNP	C	C	T	rs149751983		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153689684C>T	ENST00000369682.3	+	3	1015	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	280	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATTCCCCATCGGCTGCTCCT	0.637000													27	198					0	0	0.139131	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724682	113724682	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:113724682G>A	ENST00000295878.3	-	10	1687	c.1541C>T	c.(1540-1542)gCa>gTa	p.A514V	KIAA1407_ENST00000545063.1_Missense_Mutation_p.A345V	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	514										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATTGCCAGGTGCACTCAGAGA	0.542000													39	566					0	0	0.098360	0	0
CFAP221	200373	broad.mit.edu	37	2	120369265	120369265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:120369265C>T	ENST00000602047.1	+	14	1512	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	PCDP1_ENST00000413369.3_Nonsense_Mutation_p.Q420*|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		420						cilium	calmodulin binding					Colorectal(110;0.196)					TGAGGAATTTCAGCGACTTAA	0.333000													18	46					0	0	0.049695	0	0
KANTR	102723508	broad.mit.edu	37	X	53171977	53171977	+	RNA	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:53171977G>C	ENST00000604849.1	+	0	540																											ATACATACCTGATGGCTAACC	0.488000													10	36					0	0	0.069234	0	0
FLG	2312	broad.mit.edu	37	1	152278805	152278805	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:152278805G>T	ENST00000368799.1	-	3	8592	c.8557C>A	c.(8557-8559)Cac>Aac	p.H2853N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2853	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAGTGCCTGGAGCCG	0.572000									Ichthyosis				241	1212					3.38734e-80	3.84249e-80	0.139131	1	0
NXPH2	11249	broad.mit.edu	37	2	139429126	139429126	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:139429126C>T	ENST00000272641.3	-	2	267	c.161G>A	c.(160-162)aGt>aAt	p.S54N		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	54	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCGCAGGGGACTGATGATCCT	0.572000													89	179					0	0	0.139131	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1706343	1706343	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:1706343G>A	ENST00000397412.3	+	10	1684	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	CRAMP1L_ENST00000262317.4_Intron|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.E529K|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.E526K			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	529						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GACCCCTGCAGAAGGCAGGGA	0.677000													10	19					0	0	0.069234	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077743	19077743	+	Silent	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:19077743G>T	ENST00000329773.2	-	2	294	c.207C>A	c.(205-207)ctC>ctA	p.L69L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	69					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CGGCCAGGCTGAGGACGTAGA	0.537000													13	123					6.31663e-08	6.60238e-08	0.132662	1	0
DBN1	1627	broad.mit.edu	37	5	176899143	176899143	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:176899143C>A	ENST00000292385.5	-	2	678	c.69G>T	c.(67-69)gaG>gaT	p.E23D	DBN1_ENST00000309007.5_Intron|DBN1_ENST00000393565.1_Intron	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	0	ADF-H.				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCTTGTCTCTCGCGTCCAT	0.667000													8	50					2.74318e-10	2.92295e-10	0.058154	1	0
GALNTL5	168391	broad.mit.edu	37	7	151684344	151684344	+	Silent	SNP	G	G	C	rs140077291		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:151684344G>C	ENST00000392800.2	+	5	890	c.636G>C	c.(634-636)ctG>ctC	p.L212L	GALNTL5_ENST00000431418.2_Silent_p.L212L	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	212	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GAGCAAGGCTGATTGGAGCTT	0.468000													22	69					0	0	0.062417	0	0
TFRC	7037	broad.mit.edu	37	3	195782122	195782122	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:195782122C>G	ENST00000360110.4	-	17	1897	c.1728G>C	c.(1726-1728)ctG>ctC	p.L576L	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.L294L|TFRC_ENST00000420415.1_Silent_p.L495L|TFRC_ENST00000392396.3_Silent_p.L576L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	576	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TCCTCTCAATCAGTTCCTTAT	0.468000			T	BCL6	NHL								40	312					0	0	0.098360	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069347	114069347	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:114069347G>A	ENST00000462705.1	-	11	2180	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	ZBTB20_ENST00000357258.3_Silent_p.F453F|ZBTB20_ENST00000393785.2_Silent_p.F453F|ZBTB20_ENST00000474710.1_Silent_p.F526F|ZBTB20_ENST00000481632.1_Silent_p.F453F|ZBTB20_ENST00000471418.1_Silent_p.F453F|ZBTB20_ENST00000464560.1_Silent_p.F453F	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGGCAGGCTGAAGAGGAAAG	0.642000													32	170					0	0	0.064281	0	0
THBS3	7059	broad.mit.edu	37	1	155167907	155167907	+	Silent	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155167907G>T	ENST00000368378.3	-	18	2199	c.2179C>A	c.(2179-2181)Cgg>Agg	p.R727R	THBS3_ENST00000457183.2_Silent_p.R607R|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000428962.2_3'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_Silent_p.R124R|THBS3_ENST00000541990.1_Silent_p.R256R	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	727	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGATAGGCCCGAAAATCCGTA	0.552000													3	95					0.115264	0.116057	0.115264	1	0
GEMIN8	54960	broad.mit.edu	37	X	14038649	14038649	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:14038649G>A	ENST00000380523.4	-	4	338	c.20C>T	c.(19-21)tCa>tTa	p.S7L	GEMIN8_ENST00000398355.3_Missense_Mutation_p.S7L|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	7					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCGATGTTGATGCCTACAA	0.408000													28	217					0	0	0.116897	0	0
POLR1E	64425	broad.mit.edu	37	9	37503070	37503070	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:37503070G>A	ENST00000377792.3	+	11	1605	c.1317G>A	c.(1315-1317)ctG>ctA	p.L439L	POLR1E_ENST00000442009.2_Silent_p.L307L|POLR1E_ENST00000377798.4_Silent_p.L377L			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	439					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCATGAGGCTGAAGATCTCCA	0.542000													41	201					0	0	0.086207	0	0
NUP37	79023	broad.mit.edu	37	12	102492898	102492898	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:102492898G>A	ENST00000552283.1	-	5	574	c.435C>T	c.(433-435)gaC>gaT	p.D145D	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Silent_p.D145D			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	145					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						AGGTGTGATCGTCACTCACAC	0.343000													34	62					0	0	0.064281	0	0
FBXL13	222235	broad.mit.edu	37	7	102665558	102665558	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:102665558C>G	ENST00000393772.2	-	6	873	c.447G>C	c.(445-447)gaG>gaC	p.E149D	FBXL13_ENST00000379305.3_Missense_Mutation_p.E149D|FBXL13_ENST00000456695.1_Missense_Mutation_p.E149D|FBXL13_ENST00000455112.2_Missense_Mutation_p.E149D|FBXL13_ENST00000436908.1_Missense_Mutation_p.E149D|FBXL13_ENST00000379306.3_Missense_Mutation_p.E149D|FBXL13_ENST00000379308.3_Missense_Mutation_p.E149D|FBXL13_ENST00000313221.4_Missense_Mutation_p.E149D|FBXL13_ENST00000471074.1_5'UTR			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	149								p.E149E(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ATTTTAGAGTCTCATCTACAA	0.333000													6	36					0	0	0.021553	0	0
SFN	2810	broad.mit.edu	37	1	27189782	27189782	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27189782A>G	ENST00000339276.4	+	1	150	c.79A>G	c.(79-81)Aaa>Gaa	p.K27E		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	27					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGCCTTCATGAAAGGCGCCGT	0.617000													31	68					0	0	0.054565	0	0
NPY5R	4889	broad.mit.edu	37	4	164271639	164271639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:164271639C>T	ENST00000515560.1	+	4	1736	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	NPY5R_ENST00000338566.3_Nonsense_Mutation_p.Q72*|NPY5R_ENST00000506953.1_Nonsense_Mutation_p.Q72*			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	72					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAGCGTAATCAGAAGACTAC	0.398000													84	335					0	0	0.139131	0	0
EFNA4	1945	broad.mit.edu	37	1	155039242	155039242	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155039242C>G	ENST00000368409.3	+	2	243	c.150C>G	c.(148-150)ctC>ctG	p.L50L	EFNA4_ENST00000359751.4_Silent_p.L50L|EFNA4_ENST00000427683.2_Silent_p.L50L|EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron	NM_005227.2	NP_005218.1			ephrin-A4											breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGCTGGGCCTCAACGATTACC	0.627000													25	48					0	0	0.091800	0	0
OR4K15	81127	broad.mit.edu	37	14	20444245	20444245	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:20444245C>G	ENST00000305051.5	+	1	643	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTGTTAATCTGCCATTTTG	0.438000													78	219					0	0	0.139131	0	0
PTPN23	25930	broad.mit.edu	37	3	47451515	47451515	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:47451515G>A	ENST00000265562.4	+	20	2304	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	PTPN23_ENST00000431726.1_Missense_Mutation_p.E617K	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	743	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGACCCCCCTGAGGAGCTGCG	0.682000													9	6					0	0	0.069234	0	0
KANSL2	54934	broad.mit.edu	37	12	49075374	49075374	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:49075374C>A	ENST00000550347.1	-	1	634	c.591G>T	c.(589-591)ggG>ggT	p.G197G	KANSL2_ENST00000420613.2_Silent_p.G14G|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000553086.1_Silent_p.G14G			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	14																	GAGTGATCCTCCCCCGATTGG	0.517000													12	86					7.93312e-07	8.2527e-07	0.119110	1	0
SLC9C2	284525	broad.mit.edu	37	1	173552647	173552647	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:173552647C>G	ENST00000367714.3	-	6	1060	c.638G>C	c.(637-639)aGa>aCa	p.R213T	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R111T|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	213					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GCTCCTACCTCTAAAAATAGA	0.294000													8	104					0	0	0.038147	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566558	129566558	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:129566558C>G	ENST00000422113.2	-	7	1995	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E95Q	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	557						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTCCTCCTCTTCACTGTCC	0.642000													18	96					0	0	0.069288	0	0
HOOK1	51361	broad.mit.edu	37	1	60331554	60331554	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:60331554C>T	ENST00000371208.3	+	19	2012	c.1755C>T	c.(1753-1755)atC>atT	p.I585I	HOOK1_ENST00000395561.2_Silent_p.I543I|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	585					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TACAAAAGATCAATGAACTTG	0.274000													31	50					0	0	0.144211	0	0
CABIN1	23523	broad.mit.edu	37	22	24439409	24439409	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:24439409T>C	ENST00000398319.2	+	6	774	c.389T>C	c.(388-390)aTt>aCt	p.I130T	CABIN1_ENST00000405822.2_Missense_Mutation_p.I130T|CABIN1_ENST00000263119.5_Missense_Mutation_p.I130T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	130					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGGTATAAGATTGGACATGTG	0.552000													43	111					0	0	0.139131	0	0
CPS1	1373	broad.mit.edu	37	2	211521293	211521293	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:211521293C>A	ENST00000233072.5	+	30	3799	c.3603C>A	c.(3601-3603)gtC>gtA	p.V1201V	CPS1_ENST00000451903.2_Silent_p.V750V|CPS1_ENST00000430249.2_Silent_p.V1207V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1201	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATGCAGGTGTCCACTCGGGAG	0.413000													103	57					1.1777e-47	1.32907e-47	0.139131	1	0
SPZ1	84654	broad.mit.edu	37	5	79617264	79617264	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:79617264C>G	ENST00000296739.4	+	1	1475	c.1230C>G	c.(1228-1230)ttC>ttG	p.F410L		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ATACCCAGTTCAATATTCATG	0.378000													24	86					0	0	0.116897	0	0
SSX1	6756	broad.mit.edu	37	X	48117190	48117190	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:48117190G>T	ENST00000376919.3	+	3	215	c.79G>T	c.(79-81)Gat>Tat	p.D27Y		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	27	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GGCCTTTGATGATATTGCCAC	0.388000			T	SS18	synovial sarcoma								12	26					0.010729	0.0109029	0.080935	1	0
DCAF5	8816	broad.mit.edu	37	14	69520744	69520744	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:69520744C>T	ENST00000341516.5	-	9	2806	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	DCAF5_ENST00000554215.1_Missense_Mutation_p.E805K|DCAF5_ENST00000557386.1_Missense_Mutation_p.E886K|DCAF5_ENST00000556847.1_Missense_Mutation_p.E805K	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	887						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CAGGCCATTTCAGACCCGCAA	0.567000													19	193					0	0	0.055883	0	0
UGGT2	55757	broad.mit.edu	37	13	96592328	96592328	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:96592328C>G	ENST00000376747.3	-	16	1765	c.1695G>C	c.(1693-1695)aaG>aaC	p.K565N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	565					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTGATCCTTCTTCACTTTTT	0.279000													5	126					0	0	0.014758	0	0
TTC17	55761	broad.mit.edu	37	11	43419614	43419614	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:43419614G>A	ENST00000039989.4	+	8	1023	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.A337T	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	337							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GAGGAAGCATGCTGTCCTATG	0.453000													31	74					0	0	0.050027	0	0
SERBP1	26135	broad.mit.edu	37	1	67889986	67889986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:67889986G>A	ENST00000370995.2	-	5	800	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	SERBP1_ENST00000370994.4_Intron|SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000370990.5_Nonsense_Mutation_p.Q233*|SERBP1_ENST00000361219.6_Intron			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	239					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ATTTGTTTCTGAATGTATTTG	0.363000													10	117					0	0	0.058154	0	0
ZNF273	10793	broad.mit.edu	37	7	64363754	64363754	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:64363754G>A	ENST00000476120.1	+	1	130	c.59G>A	c.(58-60)aGa>aAa	p.R20K	ZNF273_ENST00000527278.1_Intron|ZNF273_ENST00000545510.1_5'UTR|ZNF273_ENST00000319636.5_Intron	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GGTATTGGGAGATCCACAGCT	0.597000													49	90					0	0	0.139131	0	0
NRK	203447	broad.mit.edu	37	X	105149322	105149322	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:105149322C>G	ENST00000428173.2	+	10	1134	c.831C>G	c.(829-831)gtC>gtG	p.V277V	NRK_ENST00000243300.9_Silent_p.V277V			Q7Z2Y5	NRK_HUMAN	Nik related kinase	277	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTCCCACAGTCAAATCCAGCG	0.373000										HNSCC(51;0.14)			6	35					0	0	0.021553	0	0
WNK3	65267	broad.mit.edu	37	X	54319739	54319739	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54319739C>G	ENST00000354646.2	-	9	2153	c.1715G>C	c.(1714-1716)gGa>gCa	p.G572A	WNK3_ENST00000375159.2_Missense_Mutation_p.G572A|WNK3_ENST00000375169.3_Missense_Mutation_p.G572A	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	572					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGATGCAGCTCCTGCCTCAGA	0.393000													15	118					0	0	0.146539	0	0
PAG1	55824	broad.mit.edu	37	8	81905367	81905367	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:81905367G>A	ENST00000220597.4	-	4	806	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	32					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGAAGATGAGGAAGGTGATGA	0.542000													3	56					0	0	0.009096	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077096	45077096	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:45077096G>C	ENST00000296130.4	+	3	469	c.289G>C	c.(289-291)Gac>Cac	p.D97H	CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Missense_Mutation_p.D55H	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	97	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCAGCGAGGACTGCATCTC	0.632000													15	29					0	0	0.038395	0	0
ATF7IP	55729	broad.mit.edu	37	12	14649234	14649234	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:14649234G>A	ENST00000544627.1	+	14	3694	c.3374G>A	c.(3373-3375)gGa>gAa	p.G1125E	ATF7IP_ENST00000536444.1_Missense_Mutation_p.G1116E|ATF7IP_ENST00000540793.1_Missense_Mutation_p.G1117E|ATF7IP_ENST00000261168.4_Missense_Mutation_p.G1117E			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1117					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGATCAACAGGACCTCAGCTC	0.388000													16	33					0	0	0.043863	0	0
OR51L1	119682	broad.mit.edu	37	11	5020494	5020494	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:5020494C>T	ENST00000321543.1	+	1	282	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCAGAGATCCAGGCAAGTG	0.478000													98	192					0	0	0.139131	0	0
BCL6	604	broad.mit.edu	37	3	187447044	187447044	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:187447044G>A	ENST00000406870.2	-	5	1515	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Silent_p.L383L|BCL6_ENST00000450123.2_Silent_p.L383L|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	383					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGAGGCTGTTGAGCACGATGA	0.607000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								22	903					0	0	0.055883	0	0
DST	667	broad.mit.edu	37	6	56458614	56458614	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:56458614C>T	ENST00000370754.5	-	48	12479	c.12480G>A	c.(12478-12480)ttG>ttA	p.L4160L	DST_ENST00000421834.2_Silent_p.L1894L|DST_ENST00000446842.2_Silent_p.L3656L|DST_ENST00000244364.6_Silent_p.L1568L|DST_ENST00000312431.6_Silent_p.L3980L|DST_ENST00000370769.4_Silent_p.L3982L|DST_ENST00000361203.3_Silent_p.L3980L|DST_ENST00000370788.2_Silent_p.L1894L			Q03001	DYST_HUMAN	dystonin	3980					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGATGTATCTCAAGTCACCTT	0.438000													37	364					0	0	0.086207	0	0
IRGQ	126298	broad.mit.edu	37	19	44097009	44097009	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:44097009C>G	ENST00000422989.1	-	3	1196	c.1041G>C	c.(1039-1041)gaG>gaC	p.E347D	IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.E347D	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	347							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCTTGGGATTCTCCATCTTGC	0.587000													8	359					0	0	0.047766	0	0
SLC26A8	116369	broad.mit.edu	37	6	35980010	35980010	+	Splice_Site	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:35980010C>G	ENST00000490799.1	-	3	681	c.328_splice	c.e3+1	p.G110_splice	SLC26A8_ENST00000394602.2_Splice_Site_p.G110_splice|SLC26A8_ENST00000355574.2_Splice_Site_p.G110_splice	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	110					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTTCCTTACCTTGGGGAACT	0.418000													28	454					0	0	0.125774	0	0
GNAT3	346562	broad.mit.edu	37	7	80091924	80091924	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:80091924C>G	ENST00000398291.3	-	6	707	c.614G>C	c.(613-615)aGa>aCa	p.R205T	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	205					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TCTCTCAGATCTCTGTCCACC	0.373000													5	101					0	0	0.014758	0	0
LRP6	4040	broad.mit.edu	37	12	12312019	12312019	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:12312019G>C	ENST00000261349.4	-	12	2611	c.2535C>G	c.(2533-2535)atC>atG	p.I845M	LRP6_ENST00000543091.1_Missense_Mutation_p.I845M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	845	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCGTCCAGTAGATATAATCTT	0.483000													16	41					0	0	0.033300	0	0
KIF15	56992	broad.mit.edu	37	3	44844322	44844322	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:44844322G>C	ENST00000326047.4	+	14	1675	c.1526G>C	c.(1525-1527)aGa>aCa	p.R509T	KIF15_ENST00000425755.1_Missense_Mutation_p.R144T	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	509					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CACCACCCCAGAGTTGCAAAG	0.383000													18	100					0	0	0.043863	0	0
FCGBP	8857	broad.mit.edu	37	19	40357470	40357470	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:40357470G>C	ENST00000221347.6	-	34	15850	c.15843C>G	c.(15841-15843)gtC>gtG	p.V5281V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5281	VWFD 13.					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)			GGCAGATCTGGACTTCGGCAA	0.572000													10	76					0	0	0.058154	0	0
LSS	4047	broad.mit.edu	37	21	47636350	47636350	+	Missense_Mutation	SNP	C	C	T	rs150614553		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:47636350C>T	ENST00000397728.3	-	7	814	c.736G>A	c.(736-738)Gtt>Att	p.V246I	LSS_ENST00000522411.1_Missense_Mutation_p.V235I|LSS_ENST00000356396.4_Missense_Mutation_p.V246I|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Missense_Mutation_p.V166I	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	246					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CTCAGCCGAACGGCGTAGCAG	0.652000													34	48					0	0	0.069456	0	0
TRPM5	29850	broad.mit.edu	37	11	2434782	2434782	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:2434782C>T	ENST00000452833.1	-	13	1941	c.1933G>A	c.(1933-1935)Gca>Aca	p.A645T	TRPM5_ENST00000155858.6_Missense_Mutation_p.A643T|TRPM5_ENST00000528453.1_Missense_Mutation_p.A643T|TRPM5_ENST00000533060.1_Missense_Mutation_p.A643T			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	643						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCGTGCCTGCGGCCATGTCC	0.647000													6	31					0	0	0.038147	0	0
RGS14	10636	broad.mit.edu	37	5	176795809	176795809	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:176795809C>T	ENST00000408923.3	+	9	1129	c.941C>T	c.(940-942)tCc>tTc	p.S314F		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	314	Necessary for interaction with RABGEF1 (By similarity).|RBD 1.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCACAGCCTCCTTGGCCCTG	0.592000											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	41					0	0	0.125774	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135268	126135268	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:126135268G>C	ENST00000299308.3	+	7	1676	c.1668G>C	c.(1666-1668)aaG>aaC	p.K556N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.K68N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	556						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGAGGAGAAGAAGGGACGAG	0.552000													4	103					0	0	0.009096	0	0
RPP30	10556	broad.mit.edu	37	10	92655643	92655643	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:92655643G>C	ENST00000413330.1	+	9	621	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	RPP30_ENST00000371703.3_Missense_Mutation_p.E196Q|RPP30_ENST00000489806.1_3'UTR	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	196					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TCAGCCTTTAGAAATAAGAGG	0.274000													15	127					0	0	0.043863	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435546	5435546	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:5435546G>C	ENST00000380419.3	-	4	1312	c.1275C>G	c.(1273-1275)ttC>ttG	p.F425L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.F385L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	425					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TGGCCTCCAAGAACTCTGCTT	0.532000													12	92					0	0	0.093190	0	0
LRIT2	340745	broad.mit.edu	37	10	85982250	85982250	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:85982250G>C	ENST00000372113.4	-	3	1084	c.1079C>G	c.(1078-1080)tCg>tGg	p.S360W	LRIT2_ENST00000538192.1_Missense_Mutation_p.S370W	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	360						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATTGCCCTCCGAGGGGATGGA	0.552000													3	61					0	0	0.115264	0	0
KMT2E	55904	broad.mit.edu	37	7	104702697	104702697	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:104702697C>T	ENST00000334877.4	+	4	692	c.158C>T	c.(157-159)tCa>tTa	p.S53L	KMT2E_ENST00000476671.1_Missense_Mutation_p.S53L|KMT2E_ENST00000257745.4_Missense_Mutation_p.S53L|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Missense_Mutation_p.S53L					lysine (K)-specific methyltransferase 2E																		TCACATCATTCACACAGTTAC	0.398000													59	221					0	0	0.139131	0	0
RFFL	117584	broad.mit.edu	37	17	33348692	33348692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:33348692G>A	ENST00000315249.7	-	3	511	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Nonsense_Mutation_p.Q97*|RFFL_ENST00000584655.1_Nonsense_Mutation_p.Q97*|RFFL_ENST00000415395.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000378516.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000447669.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000413582.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000394597.2_Nonsense_Mutation_p.Q97*			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	97					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCCTCTCGCTGAAAGGCTGTA	0.512000													16	128					0	0	0.043863	0	0
WTAP	9589	broad.mit.edu	37	6	160176375	160176375	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:160176375G>A	ENST00000358372.4	+	8	2680	c.923G>A	c.(922-924)gGg>gAg	p.G308E	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	308					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TCTTCTCCAGGGAATGGTAAT	0.507000													30	71					0	0	0.116897	0	0
PLD1	5337	broad.mit.edu	37	3	171431715	171431715	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:171431715C>G	ENST00000356327.5	-	9	949	c.879G>C	c.(877-879)acG>acC	p.T293T	PLD1_ENST00000342215.6_Silent_p.T293T|PLD1_ENST00000351298.4_Silent_p.T293T|PLD1_ENST00000340989.4_Silent_p.T293T	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	293	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.T293T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTCCATATTTCGTTTCTGTCT	0.338000													215	145					0	0	0.139131	0	0
CAPZA1	829	broad.mit.edu	37	1	113212164	113212164	+	Splice_Site	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:113212164G>T	ENST00000263168.3	+	9	1329		c.e9-1		CAPZA1_ENST00000476936.1_Splice_Site	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1						actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTTCATTAGAATGAAGCCC	0.323000													15	68					1.52009e-12	1.62761e-12	0.132662	1	0
FLOT2	2319	broad.mit.edu	37	17	27209040	27209040	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:27209040C>T	ENST00000394906.2	-	10	948	c.871G>A	c.(871-873)Gag>Aag	p.E291K	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.E236K|FLOT2_ENST00000394908.4_Missense_Mutation_p.E236K			Q14254	FLOT2_HUMAN	flotillin 2	236					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AACTGGGCCTCAGCTGTCTGT	0.572000													18	54					0	0	0.033300	0	0
TUBAL3	79861	broad.mit.edu	37	10	5437411	5437411	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:5437411G>A	ENST00000380419.3	-	3	312	c.275C>T	c.(274-276)tCa>tTa	p.S92L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.S52L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	92					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTGGAAGAGTGAACGGTGCTG	0.592000													32	225					0	0	0.050027	0	0
SMOC2	64094	broad.mit.edu	37	6	169053734	169053734	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:169053734G>A	ENST00000354536.5	+	11	1364	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	SMOC2_ENST00000356284.2_Missense_Mutation_p.E371K	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	371	EF-hand 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGCAAAAAGGAAATCAAACC	0.443000													34	103					0	0	0.050027	0	0
ZNF486	90649	broad.mit.edu	37	19	20308540	20308540	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:20308540G>C	ENST00000335117.8	+	4	1078	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TAGTAAACATGAGAAGATTCA	0.398000													23	53					0	0	0.062417	0	0
POLR2A	5430	broad.mit.edu	37	17	7417029	7417029	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:7417029C>G	ENST00000322644.6	+	29	5845	c.5446C>G	c.(5446-5448)Cca>Gca	p.P1816A		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1816	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCACAGTCTCCAACCTATAC	0.577000													146	279					0	0	0.139131	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113511	55113511	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:55113511G>T	ENST00000370862.3	+	2	634	c.298G>T	c.(298-300)Gat>Tat	p.D100Y		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	100					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTCTGGCTGATGTGCTCGT	0.453000													32	235					6.00712e-18	6.60934e-18	0.050027	1	0
SFN	2810	broad.mit.edu	37	1	27190331	27190331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27190331G>T	ENST00000339276.4	+	1	699	c.628G>T	c.(628-630)Gag>Tag	p.E210*		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	210					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CACCCTCAGCGAGGACTCCTA	0.617000													50	114					3.86236e-30	4.32545e-30	0.139131	1	0
OR4N2	390429	broad.mit.edu	37	14	20295739	20295739	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:20295739C>T	ENST00000568211.1	+	1	132	c.132C>T	c.(130-132)ctC>ctT	p.L44L	OR4N2_ENST00000315947.1_Silent_p.L44L			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAAATTTTCTCATTATTTTCA	0.448000													118	271					0	0	0.139131	0	0
COL6A6	131873	broad.mit.edu	37	3	130361868	130361868	+	Splice_Site	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:130361868G>A	ENST00000358511.6	+	30	5258		c.e30+1		COL6A6_ENST00000453409.2_Splice_Site	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6						axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GACCGCAGTCGTAAGTACCCT	0.393000													13	80					0	0	0.038395	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878578	12878578	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:12878578C>T	ENST00000524591.2	+	5	879	c.390C>T	c.(388-390)gtC>gtT	p.V130V	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	130							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGGCCAGGGTCTTAGTTCCCG	0.418000													3	20					0	0	0.115264	0	0
TCP1	6950	broad.mit.edu	37	6	160200096	160200096	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:160200096G>A	ENST00000321394.7	-	12	1932	c.1652C>T	c.(1651-1653)tCt>tTt	p.S551F	ACAT2_ENST00000541436.1_3'UTR|TCP1_ENST00000544255.1_Missense_Mutation_p.S327F|TCP1_ENST00000392168.2_Missense_Mutation_p.S396F|TCP1_ENST00000420894.2_3'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	551					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AAGGGCTCCAGAGTGAACAGC	0.318000													22	90					0	0	0.083992	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058055	79058055	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:79058055C>T	ENST00000388820.4	-	19	4408	c.4198G>A	c.(4198-4200)Gaa>Aaa	p.E1400K		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1400					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCCCCGCTTCAGCCAGGCTG	0.692000													15	154					0	0	0.146539	0	0
ZNF628	89887	broad.mit.edu	37	19	55994342	55994342	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:55994342C>A	ENST00000598519.1	+	3	2335	c.1782C>A	c.(1780-1782)ttC>ttA	p.F594L	ZNF628_ENST00000391718.2_Missense_Mutation_p.F590L	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	590						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AGCGGCCCTTCCGCTGCCCGC	0.711000													4	29					0.00909568	0.00926451	0.009096	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	82					0	0	0.009096	0	0
BBX	56987	broad.mit.edu	37	3	107492169	107492169	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492169G>C	ENST00000415149.2	+	11	1928	c.1601G>C	c.(1600-1602)aGa>aCa	p.R534T	BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.R534T|BBX_ENST00000325805.8_Missense_Mutation_p.R534T|BBX_ENST00000406780.1_Missense_Mutation_p.R534T	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	534	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GTGAAATCAAGAGAGAAGAAA	0.438000													7	51					0	0	0.104719	0	0
PTPRS	5802	broad.mit.edu	37	19	5274263	5274263	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:5274263G>A	ENST00000372412.4	-	3	417	c.184C>T	c.(184-186)Cca>Tca	p.P62S	PTPRS_ENST00000357368.4_Missense_Mutation_p.P62S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P62S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.P62S|PTPRS_ENST00000590509.1_Missense_Mutation_p.P62S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P62S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P62S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P62S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P62S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	62	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTCACTCGTGGCTTGGGGTCA	0.607000													20	50					0	0	0.049695	0	0
CCDC141	285025	broad.mit.edu	37	2	179733905	179733905	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:179733905C>G	ENST00000420890.2	-	15	2450	c.2333G>C	c.(2332-2334)aGa>aCa	p.R778T	CCDC141_ENST00000295723.5_Missense_Mutation_p.R203T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	203							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCCTGGATTCTCTCTTTCTG	0.418000													6	254					0	0	0.021553	0	0
GRPR	2925	broad.mit.edu	37	X	16142343	16142343	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:16142343C>T	ENST00000380289.2	+	1	665	c.267C>T	c.(265-267)ctC>ctT	p.L89L		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	89					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ACCTGCTCCTCCTAATAACGT	0.483000											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	349					0	0	0.125774	0	0
PDE3A	5139	broad.mit.edu	37	12	20806970	20806970	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:20806970C>G	ENST00000359062.3	+	15	3055	c.3015C>G	c.(3013-3015)atC>atG	p.I1005M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1005	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AATCCTTCATCTCTCACATTG	0.498000													11	75					0	0	0.069234	0	0
MLLT4	4301	broad.mit.edu	37	6	168276155	168276155	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:168276155C>G	ENST00000366806.2	+	5	861	c.719C>G	c.(718-720)tCa>tGa	p.S240*	MLLT4_ENST00000392112.1_Nonsense_Mutation_p.S239*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.S240*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.S239*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.S240*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.S240*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.S240*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	240					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTTCGGAGCTCAGATGGGCGG	0.438000			T	MLL	AL								53	341					0	0	0.139131	0	0
SORBS2	8470	broad.mit.edu	37	4	186545444	186545444	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:186545444G>A	ENST00000431808.1	-	14	1690	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S476F|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S376F|SORBS2_ENST00000418609.1_Missense_Mutation_p.S280F|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	376						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATTTTGGGAGAGACGGTTTC	0.537000													42	77					0	0	0.111260	0	0
HDAC11	79885	broad.mit.edu	37	3	13538259	13538259	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:13538259C>T	ENST00000295757.3	+	4	459	c.276C>T	c.(274-276)atC>atT	p.I92I	HDAC11_ENST00000437379.2_Silent_p.I64I|HDAC11_ENST00000433119.1_Silent_p.I64I|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000446613.2_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	92	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TTGCTACCATCACAGAAATCC	0.572000											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	87					0	0	0.014758	0	0
RXRB	6257	broad.mit.edu	37	6	33165572	33165572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:33165572G>A	ENST00000374680.3	-	4	998	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	RXRB_ENST00000374685.4_Nonsense_Mutation_p.Q263*|RXRB_ENST00000544186.1_Nonsense_Mutation_p.Q73*|RXRB_ENST00000413614.2_Nonsense_Mutation_p.Q167*	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	263					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCACTTCTGATAGCGGCAG	0.577000													6	69					0	0	0.038147	0	0
ZIK1	284307	broad.mit.edu	37	19	58101557	58101557	+	Silent	SNP	T	T	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:58101557T>G	ENST00000597850.1	+	4	593	c.378T>G	c.(376-378)gtT>gtG	p.V126V	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.V113V|ZIK1_ENST00000599456.1_Silent_p.V71V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	126	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CATACTTGGTTGGAGAATGTA	0.463000													41	84					0	0	0.117977	0	0
POLR3A	11128	broad.mit.edu	37	10	79753020	79753020	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:79753020C>G	ENST00000372371.3	-	20	2859	c.2722G>C	c.(2722-2724)Gat>Cat	p.D908H		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	908					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|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTGCAGGATCTAAGCCATCT	0.413000													19	228					0	0	0.055883	0	0
EIF1	10209	broad.mit.edu	37	17	39847033	39847033	+	Splice_Site	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39847033G>A	ENST00000469257.1	+	4	443		c.e4-1		EIF1_ENST00000591776.1_Splice_Site|EIF1_ENST00000310837.4_Splice_Site|JUP_ENST00000540235.1_Intron			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGTCTTTTCAGATTGGACTGG	0.443000													37	120					0	0	0.092188	0	0
SRSF5	6430	broad.mit.edu	37	14	70235606	70235606	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:70235606G>A	ENST00000553521.1	+	5	1742	c.289G>A	c.(289-291)Gat>Aat	p.D97N	SRSF5_ENST00000554021.1_Missense_Mutation_p.D97N|SRSF5_ENST00000555349.1_Missense_Mutation_p.D97N|SRSF5_ENST00000394366.2_Missense_Mutation_p.D97N|SRSF5_ENST00000553548.1_Missense_Mutation_p.D97N|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Missense_Mutation_p.D97N|SRSF5_ENST00000451983.2_Missense_Mutation_p.D97N|SRSF5_ENST00000553635.1_Missense_Mutation_p.D94N			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	97					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						ACCTCGAAATGATAGACGGTA	0.453000													28	108					0	0	0.125774	0	0
TUBBP1	92755	broad.mit.edu	37	8	30209896	30209896	+	RNA	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:30209896G>C	ENST00000518096.1	+	0	508																											GAAGGAGGCAGAGAGCTGTGA	0.582000													21	74					0	0	0.055883	0	0
NLE1	54475	broad.mit.edu	37	17	33469078	33469078	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:33469078G>A	ENST00000442241.4	-	2	121	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.L28L|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	28						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GAACCCAGCAGCTGCCCGCCC	0.687000													7	26					0	0	0.029380	0	0
SLC6A13	6540	broad.mit.edu	37	12	351877	351877	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:351877G>C	ENST00000343164.4	-	4	433	c.381C>G	c.(379-381)gtC>gtG	p.V127V	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	127					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TGATGTAGTAGACGTTGAGGA	0.577000													4	11					0	0	0.009096	0	0
SMG7	9887	broad.mit.edu	37	1	183511286	183511286	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:183511286C>T	ENST00000367537.3	+	15	1773	c.1578C>T	c.(1576-1578)ccC>ccT	p.P526P	SMG7_ENST00000347615.2_Silent_p.P497P|SMG7_ENST00000515829.2_Silent_p.P497P|SMG7_ENST00000507469.1_Silent_p.P497P|SMG7_ENST00000456731.2_Silent_p.P455P|SMG7_ENST00000508461.1_Silent_p.P455P			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	497					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TGGAAGACCCCAGTGAAGCCA	0.418000													107	200					0	0	0.139131	0	0
ASZ1	136991	broad.mit.edu	37	7	117060270	117060270	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:117060270C>T	ENST00000284629.2	-	4	449	c.387G>A	c.(385-387)ttG>ttA	p.L129L		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	129					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTACACACTTCAAGATCTGTT	0.338000													18	120					0	0	0.069288	0	0
ZNF142	7701	broad.mit.edu	37	2	219510998	219510998	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:219510998C>T	ENST00000411696.2	-	6	2126	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	ZNF142_ENST00000449707.1_Silent_p.L449L			P52746	ZN142_HUMAN	zinc finger protein 142	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGGAGTGGGTCAGCATGTGCT	0.527000													22	70					0	0	0.055883	0	0
BMP15	9210	broad.mit.edu	37	X	50659550	50659550	+	Silent	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:50659550G>T	ENST00000252677.3	+	2	1122	c.1122G>T	c.(1120-1122)ggG>ggT	p.G374G		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	374					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AGGCAAATGGGAGTATTTTGT	0.468000													61	208					4.96213e-28	5.54294e-28	0.139131	1	0
AGO1	26523	broad.mit.edu	37	1	36384759	36384759	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:36384759G>T	ENST00000373204.4	+	18	2582	c.2369G>T	c.(2368-2370)cGa>cTa	p.R790L	AGO1_ENST00000373206.1_Missense_Mutation_p.R715L	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		ACTTACGTACGATGCACACGC	0.552000													17	35					4.75885e-15	5.12043e-15	0.033300	1	0
ZNF559	84527	broad.mit.edu	37	19	9452472	9452472	+	Silent	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:9452472A>G	ENST00000393883.2	+	6	993	c.345A>G	c.(343-345)agA>agG	p.R115R	ZNF559_ENST00000603380.1_Silent_p.R115R|ZNF559_ENST00000587557.1_Silent_p.R179R|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000585352.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.R35R|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592504.1_3'UTR|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CTTACTTTAGAAAGAAAACCT	0.373000													10	82					0	0	0.069234	0	0
USH2A	7399	broad.mit.edu	37	1	215848781	215848781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:215848781G>A	ENST00000366943.2	-	63	12858	c.12472C>T	c.(12472-12474)Cag>Tag	p.Q4158*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q4158*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4158	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGCCAGCTGAGAGTCTGGA	0.532000										HNSCC(13;0.011)			6	70					0	0	0.029380	0	0
PPFIA1	8500	broad.mit.edu	37	11	70170534	70170534	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:70170534C>T	ENST00000253925.7	+	3	506	c.291C>T	c.(289-291)ctC>ctT	p.L97L	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.L97L	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	97					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTAAAGAACTCAATGTATGCA	0.403000													20	341					0	0	0.043863	0	0
OR6B3	150681	broad.mit.edu	37	2	240985469	240985469	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:240985469G>C	ENST00000319423.4	-	1	20	c.21C>G	c.(19-21)acC>acG	p.T7T		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TGCCGACCCTGGTGACATTCT	0.602000													29	19					0	0	0.134883	0	0
ABCB1	5243	broad.mit.edu	37	7	87214929	87214929	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:87214929C>T	ENST00000265724.3	-	5	602	c.185G>A	c.(184-186)gGg>gAg	p.G62E	ABCB1_ENST00000543898.1_Missense_Mutation_p.G62E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	62	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAGTCCAGCCCCATGGATGAT	0.393000													26	58					0	0	0.099896	0	0
FGF17	8822	broad.mit.edu	37	8	21900473	21900473	+	Splice_Site	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:21900473C>G	ENST00000359441.3	+	1	537	c.35_splice	c.e1+1	p.L12_splice	FGF17_ENST00000518533.1_Splice_Site_p.L12_splice	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	12					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CAACCTCACTCTGTAAGTGTG	0.657000													11	16					0	0	0.093190	0	0
GPBP1	65056	broad.mit.edu	37	5	56531816	56531816	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:56531816G>A	ENST00000424459.3	+	6	1709	c.435G>A	c.(433-435)gaG>gaA	p.E145E	GPBP1_ENST00000454432.2_Silent_p.E145E|GPBP1_ENST00000264779.6_Silent_p.E152E|GPBP1_ENST00000511209.1_Silent_p.E152E|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000538707.1_Silent_p.E152E|GPBP1_ENST00000506184.2_Silent_p.E145E	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTGAGTATGAGAGAGAACCAA	0.318000													9	136					0	0	0.069234	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378495	31378495	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:31378495G>C	ENST00000297142.3	-	2	710	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	130	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ATTTTGGACAGTTTCTGGGTT	0.483000													41	77					0	0	0.086207	0	0
ETFA	2108	broad.mit.edu	37	15	76584999	76584999	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:76584999G>T	ENST00000557943.1	-	3	309	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	ETFA_ENST00000560726.1_Intron|ETFA_ENST00000433983.2_Missense_Mutation_p.L28M|ETFA_ENST00000559602.1_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	77					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TGAGCCACCAGAACTTTTGCT	0.358000													33	176					1.60099e-16	1.744e-16	0.074837	1	0
NEIL2	252969	broad.mit.edu	37	8	11643525	11643525	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:11643525C>G	ENST00000284503.6	+	5	1341	c.742C>G	c.(742-744)Ctc>Gtc	p.L248V	NEIL2_ENST00000436750.3_Missense_Mutation_p.L248V|NEIL2_ENST00000403422.3_Missense_Mutation_p.L187V|NEIL2_ENST00000455213.2_Missense_Mutation_p.L248V|NEIL2_ENST00000528323.1_Missense_Mutation_p.L132V	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	248					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TCCCCTTTCTCTCGGTTCAGT	0.552000								Base excision repair (BER), DNA glycosylases					9	456					0	0	0.058154	0	0
C9orf131	138724	broad.mit.edu	37	9	35044713	35044713	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:35044713C>T	ENST00000312292.5	+	2	2134	c.2087C>T	c.(2086-2088)cCa>cTa	p.P696L	C9orf131_ENST00000421362.2_Missense_Mutation_p.P648L|C9orf131_ENST00000354479.5_Missense_Mutation_p.P623L	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	696										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACTCCTCTACCAGAGCCACAC	0.552000													14	84					0	0	0.119110	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573666	106573666	+	RNA	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:106573666C>G	ENST00000390601.2	-	0	134																											AAACCCAGCTCAGCCCAAACT	0.483000													12	319					0	0	0.119110	0	0
CPA6	57094	broad.mit.edu	37	8	68419035	68419035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:68419035C>T	ENST00000297770.4	-	6	838	c.623G>A	c.(622-624)tGg>tAg	p.W208*	CPA6_ENST00000297769.4_Nonsense_Mutation_p.W60*|CPA6_ENST00000518549.1_Nonsense_Mutation_p.W208*	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	208					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTTTACAAACCACTGACAAAA	0.403000													51	69					0	0	0.139131	0	0
AHNAK	79026	broad.mit.edu	37	11	62286923	62286923	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:62286923G>C	ENST00000378024.4	-	5	15240	c.14966C>G	c.(14965-14967)gCt>gGt	p.A4989G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4989					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGATGTCAGCTTTGGGGCT	0.453000													12	203					0	0	0.080935	0	0
HCN4	10021	broad.mit.edu	37	15	73659999	73659999	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:73659999C>T	ENST00000261917.3	-	1	1606	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	205					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGCGCACCTCGGCCTCCGGG	0.682000													7	61					0	0	0.038147	0	0
GALNT2	2590	broad.mit.edu	37	1	230338990	230338990	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:230338990G>A	ENST00000366672.4	+	3	400	c.328G>A	c.(328-330)Gat>Aat	p.D110N	GALNT2_ENST00000543760.1_Missense_Mutation_p.D72N|GALNT2_ENST00000541865.1_Missense_Mutation_p.D20N	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	110					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGTGGAGAGTGATAAGCTTCG	0.547000													32	152					0	0	0.144211	0	0
ARHGAP6	395	broad.mit.edu	37	X	11187736	11187736	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:11187736C>G	ENST00000337414.4	-	9	2570	c.1698G>C	c.(1696-1698)caG>caC	p.Q566H	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q391H|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q375H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q363H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q566H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q363H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q598H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	566	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGATGACTTCTGCTTGTGCA	0.438000													29	214					0	0	0.125774	0	0
FNDC1	84624	broad.mit.edu	37	6	159659662	159659662	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:159659662G>A	ENST00000297267.9	+	13	4345	c.4145G>A	c.(4144-4146)cGg>cAg	p.R1382Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R1319Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1382						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AATCCTCTTCGGATTAAACTA	0.388000													8	20					0	0	0.058154	0	0
LSAMP	4045	broad.mit.edu	37	3	115561400	115561400	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:115561400C>G	ENST00000490035.1	-	5	1174	c.675G>C	c.(673-675)aaG>aaC	p.K225N	LSAMP_ENST00000539563.1_Missense_Mutation_p.K222N|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	225	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTTCATTGCTCTTGGATTCTG	0.498000													19	122					0	0	0.055883	0	0
NAPRT1	93100	broad.mit.edu	37	8	144659478	144659478	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:144659478C>T	ENST00000449291.2	-	4	823	c.529G>A	c.(529-531)Gat>Aat	p.D177N	NAPRT1_ENST00000435154.3_Missense_Mutation_p.D177N|NAPRT1_ENST00000426292.3_Missense_Mutation_p.D177N|NAPRT1_ENST00000276844.7_Missense_Mutation_p.D177N|RP11-661A12.9_ENST00000531730.1_RNA			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	177					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGCCCCCATCGGGGCCCTGA	0.692000													16	4					0	0	0.146539	0	0
SPAG7	9552	broad.mit.edu	37	17	4862900	4862900	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4862900C>T	ENST00000573366.1	-	7	1318	c.460G>A	c.(460-462)Gag>Aag	p.E154K	SPAG7_ENST00000575142.1_3'UTR|SPAG7_ENST00000206020.3_Missense_Mutation_p.E205K			O75391	SPAG7_HUMAN	sperm associated antigen 7	205						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TTCATAGCCTCTTCAATGGAG	0.617000													79	129					0	0	0.139131	0	0
ARID1A	8289	broad.mit.edu	37	1	27106087	27106087	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27106087G>C	ENST00000324856.7	+	20	6069	c.5698G>C	c.(5698-5700)Gat>Cat	p.D1900H	ARID1A_ENST00000374152.2_Missense_Mutation_p.D1517H|ARID1A_ENST00000540690.1_Missense_Mutation_p.D228H|ARID1A_ENST00000457599.2_Missense_Mutation_p.D1683H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1900					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.D1900N(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCCCCACCTGATGGACCTCC	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	88					0	0	0.029380	0	0
TPTE	7179	broad.mit.edu	37	21	10959802	10959802	+	Splice_Site	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:10959802T>C	ENST00000298232.7	-	7	487		c.e7-2		TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000361285.4_Splice_Site	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTAACACACTTTAGCCACCA	0.318000													23	91					0	0	0.091800	0	0
ERI3	79033	broad.mit.edu	37	1	44820585	44820585	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:44820585C>G	ENST00000372257.2	-	1	295	c.114G>C	c.(112-114)ccG>ccC	p.P38P	ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	38						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCCCCAACTCGGGCCCATCC	0.697000													4	42					0	0	0.009096	0	0
SPAG7	9552	broad.mit.edu	37	17	4862903	4862903	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4862903C>T	ENST00000573366.1	-	7	1315	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	SPAG7_ENST00000575142.1_3'UTR|SPAG7_ENST00000206020.3_Missense_Mutation_p.E204K			O75391	SPAG7_HUMAN	sperm associated antigen 7	204						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ATAGCCTCTTCAATGGAGCGT	0.617000													75	129					0	0	0.139131	0	0
SPZ1	84654	broad.mit.edu	37	5	79616896	79616896	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:79616896G>A	ENST00000296739.4	+	1	1107	c.862G>A	c.(862-864)Ggt>Agt	p.G288S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAATGGAGTCGGTTTCCAAAC	0.413000													51	70					0	0	0.139131	0	0
ZNF142	7701	broad.mit.edu	37	2	219510915	219510915	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:219510915C>T	ENST00000411696.2	-	6	2209	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	ZNF142_ENST00000449707.1_Missense_Mutation_p.R477Q			P52746	ZN142_HUMAN	zinc finger protein 142	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCATGTTTTCGCATGTGCAC	0.512000													21	93					0	0	0.049695	0	0
NPTN	27020	broad.mit.edu	37	15	73862516	73862516	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:73862516C>T	ENST00000351217.6	-	5	1659	c.741G>A	c.(739-741)agG>agA	p.R247R	NPTN_ENST00000562924.1_Silent_p.R247R|NPTN_ENST00000345330.4_Silent_p.R363R|NPTN_ENST00000563691.1_Silent_p.R363R|NPTN_ENST00000542234.1_Silent_p.R158R|NPTN_ENST00000545878.1_Silent_p.R363R	NM_001161364.1|NM_017455.3	NP_001154836.1|NP_059429.1	Q9Y639	NPTN_HUMAN	neuroplastin	363	Ig-like 3.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTGGCCTCTTCCTCTTCTCAT	0.512000													42	285					0	0	0.117977	0	0
EPHA2	1969	broad.mit.edu	37	1	16458218	16458218	+	Missense_Mutation	SNP	C	C	T	rs2291806		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:16458218C>T	ENST00000358432.5	-	14	2627	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	825	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.E825*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GCACCCACCTCGTGGTTGGAC	0.587000													11	87					0	0	0.093190	0	0
TOP2B	7155	broad.mit.edu	37	3	25670595	25670595	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:25670595G>A	ENST00000435706.2	-	14	1917	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	TOP2B_ENST00000264331.4_Silent_p.F577F			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	577					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	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGTGATGGATGAAATTAATAA	0.274000													43	49					0	0	0.139131	0	0
CHD3	1107	broad.mit.edu	37	17	7812049	7812049	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:7812049G>T	ENST00000380358.4	+	36	5474	c.5473G>T	c.(5473-5475)Gat>Tat	p.D1825Y	CHD3_ENST00000330494.7_Missense_Mutation_p.D1766Y|CHD3_ENST00000358181.4_Missense_Mutation_p.D1732Y	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1766	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATCCAGAATGATGCTCAATT	0.443000													26	218					4.72057e-08	4.9459e-08	0.091800	1	0
PRR14	78994	broad.mit.edu	37	16	30666894	30666894	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30666894G>A	ENST00000542965.2	+	9	1842	c.1386G>A	c.(1384-1386)atG>atA	p.M462I	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.M462I			Q9BWN1	PRR14_HUMAN	proline rich 14	462										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TTACACCAATGGGACTGCCTC	0.522000													7	39					0	0	0.038147	0	0
FRY	10129	broad.mit.edu	37	13	32818298	32818298	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:32818298G>C	ENST00000380250.3	+	47	7303	c.6807G>C	c.(6805-6807)aaG>aaC	p.K2269N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAGTTCTGAAGACAATTGAAA	0.438000													23	115					0	0	0.076483	0	0
CUL1	8454	broad.mit.edu	37	7	148485666	148485666	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:148485666G>C	ENST00000325222.4	+	14	1776	c.1497G>C	c.(1495-1497)gaG>gaC	p.E499D	CUL1_ENST00000602748.1_Missense_Mutation_p.E499D|CUL1_ENST00000409469.1_Missense_Mutation_p.E499D	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	499					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCGGGTTCGAGTACACCTCTA	0.398000													60	120					0	0	0.139131	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077580	32077580	+	RNA	SNP	A	A	G	rs28541432	by1000genomes	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:32077580A>G	ENST00000354689.6	+	0	195				RP11-1166P10.6_ENST00000566806.1_RNA																							ACTCTGTGAAAGGCCGATTCA	0.517000													7	435					0	0	0.047766	0	0
UNC79	57578	broad.mit.edu	37	14	94103615	94103615	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:94103615G>C	ENST00000553484.1	+	34	6107	c.5953G>C	c.(5953-5955)Gac>Cac	p.D1985H	UNC79_ENST00000256339.4_Missense_Mutation_p.D1786H|UNC79_ENST00000555664.1_Missense_Mutation_p.D1924H|UNC79_ENST00000393151.2_Missense_Mutation_p.D1963H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1963						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						cctaaaccctgacctggaggg	0.488000													15	56					0	0	0.043863	0	0
SLC3A2	6520	broad.mit.edu	37	11	62656097	62656097	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:62656097C>G	ENST00000377892.1	+	13	2142	c.1918C>G	c.(1918-1920)Ctt>Gtt	p.L640V	SLC3A2_ENST00000377891.2_Missense_Mutation_p.L610V|SLC3A2_ENST00000338663.7_Missense_Mutation_p.L508V|SLC3A2_ENST00000377890.2_Missense_Mutation_p.L609V|SLC3A2_ENST00000377889.2_Missense_Mutation_p.L547V|SLC3A2_ENST00000535296.1_Missense_Mutation_p.L578V|SLC3A2_ENST00000536981.1_Missense_Mutation_p.L154V			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	609					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GGGCTCCCCTCTTGAGCTGGA	0.667000													63	119					0	0	0.139131	0	0
MSLNL	401827	broad.mit.edu	37	16	823207	823207	+	Silent	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:823207G>T	ENST00000293892.3	-	10	2060	c.2061C>A	c.(2059-2061)ctC>ctA	p.L687L	MSLNL_ENST00000442466.1_Silent_p.L336L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	336					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTTGGTTCTGAGGATGCAGC	0.627000													11	137					1.61879e-10	1.72907e-10	0.093190	1	0
TRIM14	9830	broad.mit.edu	37	9	100862396	100862396	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:100862396G>C	ENST00000341469.2	-	3	363	c.354C>G	c.(352-354)ctC>ctG	p.L118L	TRIM14_ENST00000342043.3_Silent_p.L118L|TRIM14_ENST00000375098.3_Silent_p.L118L	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	118						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GTAGTAATCTGAGTTCAGTGA	0.443000													48	238					0	0	0.139131	0	0
FBN1	2200	broad.mit.edu	37	15	48796097	48796097	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:48796097C>G	ENST00000316623.5	-	17	2455	c.2000G>C	c.(1999-2001)aGa>aCa	p.R667T		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	667	TB 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACACTGGCCTCTCTTGTATCC	0.488000													13	112					0	0	0.105934	0	0
MUC17	140453	broad.mit.edu	37	7	100678729	100678729	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:100678729C>G	ENST00000306151.4	+	3	4096	c.4032C>G	c.(4030-4032)gtC>gtG	p.V1344V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1344	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATACCTGTCAACACCACAC	0.458000													134	293					0	0	0.139131	0	0
MDN1	23195	broad.mit.edu	37	6	90494802	90494802	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:90494802G>C	ENST00000369393.3	-	9	1493	c.1378C>G	c.(1378-1380)Cat>Gat	p.H460D	MDN1_ENST00000428876.1_Missense_Mutation_p.H460D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	460					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)		AAAGTAGCATGACTGTTTAGC	0.378000													6	344					0	0	0.029380	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30689980	30689980	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:30689980G>A	ENST00000215790.7	-	7	989	c.825C>T	c.(823-825)ttC>ttT	p.F275F	TBC1D10A_ENST00000403477.3_Silent_p.F282F|RP1-130H16.18_ENST00000447976.1_Silent_p.F149F|TBC1D10A_ENST00000403362.1_Silent_p.F187F	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	275	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGCGCACATGAACCATTCTG	0.592000													22	152					0	0	0.062417	0	0
UBXN11	91544	broad.mit.edu	37	1	26620764	26620764	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:26620764G>A	ENST00000374222.1	-	9	955	c.491C>T	c.(490-492)tCa>tTa	p.S164L	UBXN11_ENST00000374217.2_Missense_Mutation_p.S131L|UBXN11_ENST00000535108.1_Missense_Mutation_p.S6L|UBXN11_ENST00000374221.3_Missense_Mutation_p.S164L|UBXN11_ENST00000436301.2_Missense_Mutation_p.S89L|UBXN11_ENST00000357089.4_Missense_Mutation_p.S131L|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374223.1_Intron			Q5T124	UBX11_HUMAN	UBX domain protein 11	164						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTTGCTCTCTGAGTCCTCCTG	0.617000													55	96					0	0	0.139131	0	0
CIDEA	1149	broad.mit.edu	37	18	12264384	12264384	+	Nonsense_Mutation	SNP	G	G	T	rs139948292		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:12264384G>T	ENST00000320477.9	+	3	327	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	88	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GGACACAGAAGAGTTCTTTCA	0.512000													33	64					1.61788e-16	1.75804e-16	0.050027	1	0
BMP15	9210	broad.mit.edu	37	X	50659551	50659551	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:50659551A>T	ENST00000252677.3	+	2	1123	c.1123A>T	c.(1123-1125)Agt>Tgt	p.S375C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	375					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GGCAAATGGGAGTATTTTGTA	0.468000													60	210					0	0	0.139131	0	0
UGCG	7357	broad.mit.edu	37	9	114695273	114695273	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:114695273T>A	ENST00000374279.3	+	9	1631	c.1181T>A	c.(1180-1182)gTa>gAa	p.V394E		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	394					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ATCCTAGATGTATAACTACAG	0.333000													33	94					0	0	0.050027	0	0
CILP2	148113	broad.mit.edu	37	19	19656361	19656361	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:19656361C>A	ENST00000586018.1	+	8	3127	c.3025C>A	c.(3025-3027)Cgg>Agg	p.R1009R	CILP2_ENST00000291495.4_Silent_p.R1003R			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1003						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTTCGACCAGCGGCAGGTGGA	0.682000													16	15					5.35267e-07	5.58152e-07	0.043863	1	0
PHF20	51230	broad.mit.edu	37	20	34526853	34526853	+	Silent	SNP	C	C	T	rs17347322	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:34526853C>T	ENST00000374012.3	+	16	2664	c.2535C>T	c.(2533-2535)cgC>cgT	p.R845R	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	845					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGAAGCCCCGCGCCTATTACC	0.632000													4	73					0	0	0.021553	0	0
ANKS6	203286	broad.mit.edu	37	9	101540657	101540657	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:101540657T>C	ENST00000353234.4	-	7	1465	c.1418A>G	c.(1417-1419)cAg>cGg	p.Q473R	ANKS6_ENST00000375019.2_Missense_Mutation_p.Q172R|ANKS6_ENST00000540940.1_Missense_Mutation_p.Q278R|ANKS6_ENST00000375018.1_Missense_Mutation_p.Q473R			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	473										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGGCAGCGTCTGCATCAGTTT	0.587000													31	38					0	0	0.050027	0	0
GPR113	165082	broad.mit.edu	37	2	26534512	26534512	+	Missense_Mutation	SNP	C	C	T	rs148160413	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:26534512C>T	ENST00000333478.6	-	8	2069	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.R626Q|GPR113_ENST00000311519.1_Missense_Mutation_p.R695Q|GPR113_ENST00000541401.1_Missense_Mutation_p.R298Q	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	695					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGAAGGCCCGGTCACCTGC	0.577000													13	27					0	0	0.105934	0	0
CCDC43	124808	broad.mit.edu	37	17	42757999	42757999	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:42757999C>G	ENST00000315286.8	-	4	449	c.441G>C	c.(439-441)gaG>gaC	p.E147D	CCDC43_ENST00000457422.2_Intron|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.E150D	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	147										lung(2)	2		Prostate(33;0.0322)				AATCATCCTTCTCATCTGCTT	0.408000													26	165					0	0	0.125774	0	0
P2RX1	5023	broad.mit.edu	37	17	3803019	3803019	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:3803019C>T	ENST00000225538.3	-	8	1058	c.784G>A	c.(784-786)Gac>Aac	p.D262N		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	262					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAGTCCAGGTCACAGTGCCAG	0.542000													7	109					0	0	0.029380	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279529	217279529	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:217279529G>C	ENST00000357276.4	+	3	432	c.102G>C	c.(100-102)caG>caC	p.Q34H	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.Q34H	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	34					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AACAGCATCAGAGGACTAGCT	0.522000									Schimke Immuno-Osseous Dysplasia				53	105					0	0	0.139131	0	0
USP42	84132	broad.mit.edu	37	7	6193669	6193669	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:6193669G>C	ENST00000306177.5	+	15	2642	c.2484G>C	c.(2482-2484)gcG>gcC	p.A828A		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	828	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGGCGATGCGAGCCCGTTGT	0.716000													9	66					0	0	0.058154	0	0
UBN2	254048	broad.mit.edu	37	7	138969091	138969091	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:138969091C>G	ENST00000288561.8	+	15	3440	c.3191C>G	c.(3190-3192)tCa>tGa	p.S1064*	UBN2_ENST00000473989.2_Nonsense_Mutation_p.S1147*	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1147	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGGCCCCCTCAAAGCTAACA	0.473000													3	93					0	0	0.009096	0	0
SYT11	23208	broad.mit.edu	37	1	155838359	155838359	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155838359G>A	ENST00000368324.4	+	2	891	c.638G>A	c.(637-639)aGa>aAa	p.R213K	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	213	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.R213T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTGAAGACCAGAGTGCTGCGG	0.572000													5	144					0	0	0.014758	0	0
PLVAP	83483	broad.mit.edu	37	19	17476503	17476503	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:17476503G>C	ENST00000252590.4	-	3	832	c.771C>G	c.(769-771)ctC>ctG	p.L257L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	257						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGATGGTAGAGGTTGTAAC	0.607000													5	130					0	0	0.021553	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834627	27834627	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:27834627C>T	ENST00000331442.3	-	1	732	c.681G>A	c.(679-681)taG>taA	p.*227*		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	0					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CGCCAGCTTCCTACTTCTTTT	0.517000													15	23					0	0	0.132662	0	0
EED	8726	broad.mit.edu	37	11	85979511	85979511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:85979511C>T	ENST00000263360.6	+	9	1560	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	EED_ENST00000351625.6_Nonsense_Mutation_p.Q292*|EED_ENST00000327320.4_Nonsense_Mutation_p.Q292*|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	292	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ATTTATTTCTCAGAAAATCCA	0.299000													71	71					0	0	0.139131	0	0
CCDC73	493860	broad.mit.edu	37	11	32675537	32675537	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:32675537T>G	ENST00000335185.5	-	11	864	c.821A>C	c.(820-822)cAa>cCa	p.Q274P	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	274										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTTTCTTCTTGAATATGGGT	0.259000													12	25					0	0	0.132662	0	0
BBX	56987	broad.mit.edu	37	3	107492081	107492081	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492081G>C	ENST00000415149.2	+	11	1840	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.D505H|BBX_ENST00000325805.8_Missense_Mutation_p.D505H|BBX_ENST00000406780.1_Missense_Mutation_p.D505H	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	505	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAACTTGGAGATACCCCTCG	0.458000													110	69					0	0	0.139131	0	0
ESPL1	9700	broad.mit.edu	37	12	53687204	53687204	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:53687204G>C	ENST00000257934.4	+	31	6400	c.6309G>C	c.(6307-6309)aaG>aaC	p.K2103N	ESPL1_ENST00000552462.1_Missense_Mutation_p.K2103N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2103					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCGACTCAAGTATCTTATTG	0.557000													21	89					0	0	0.069288	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749026	43749026	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:43749026C>G	ENST00000263801.3	-	12	2017	c.1765G>C	c.(1765-1767)Gat>Cat	p.D589H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.D594H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.D594H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.D594H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	589					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTGTATCATCTCCCTTTGTT	0.403000								Other conserved DNA damage response genes					70	156					0	0	0.139131	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950297	123950297	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:123950297C>G	ENST00000526639.2	+	2	789	c.210C>G	c.(208-210)gtC>gtG	p.V70V	SNRNP35_ENST00000350887.5_Silent_p.V70V|SNRNP35_ENST00000412157.2_Silent_p.V75V|SNRNP35_ENST00000527158.2_Intron	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	70	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TAAAGGAAGTCTTTTCCCGCT	0.517000													27	46					0	0	0.125774	0	0
TLN1	7094	broad.mit.edu	37	9	35720452	35720452	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:35720452C>G	ENST00000314888.9	-	12	1614	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E421Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	421	Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGAGTCCTCCAGCATAGTA	0.488000													44	461					0	0	0.139131	0	0
LHX6	26468	broad.mit.edu	37	9	124979413	124979413	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:124979413C>G	ENST00000394319.4	-	5	720	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	LHX6_ENST00000373754.2_Missense_Mutation_p.E177Q|LHX6_ENST00000373755.2_Missense_Mutation_p.E177Q|LHX6_ENST00000541397.2_Missense_Mutation_p.E195Q|LHX6_ENST00000340587.3_Missense_Mutation_p.E206Q|LHX6_ENST00000559895.1_5'UTR	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	177					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						AGCACCTTCTCCTCGACCAGG	0.647000													19	108					0	0	0.038395	0	0
CBL	867	broad.mit.edu	37	11	119103214	119103214	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:119103214C>T	ENST00000264033.4	+	2	628	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	84	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CACCTTATATCTTAGACCTGC	0.428000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				7	67					0	0	0.029380	0	0
FAM120C	54954	broad.mit.edu	37	X	54112314	54112314	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54112314C>T	ENST00000375180.2	-	13	2729	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	FAM120C_ENST00000328235.4_Intron	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	891										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAAGGATGCTCTGTCTCATCT	0.478000													54	74					0	0	0.139131	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597336	31597336	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:31597336G>A	ENST00000376033.2	+	14	2202	c.1968G>A	c.(1966-1968)ctG>ctA	p.L656L	PRRC2A_ENST00000376007.4_Silent_p.L656L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	656	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGCAGCTCCTGAagcagcagc	0.557000													145	239					0	0	0.139131	0	0
MARCH10	162333	broad.mit.edu	37	17	60814396	60814396	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60814396G>C	ENST00000544856.2	-	7	1208	c.830C>G	c.(829-831)tCc>tGc	p.S277C	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S278C|MARCH10_ENST00000311269.5_Missense_Mutation_p.S278C|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.S316C			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	278							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TGACAAAATGGAATAAAAGTC	0.488000													101	376					0	0	0.139131	0	0
DRC1	92749	broad.mit.edu	37	2	26679336	26679336	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:26679336C>G	ENST00000288710.2	+	17	2248	c.2174C>G	c.(2173-2175)tCt>tGt	p.S725C		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		CAGATCAACTCTGAACTGCAA	0.557000													10	68					0	0	0.080935	0	0
EDEM2	55741	broad.mit.edu	37	20	33730263	33730263	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:33730263C>A	ENST00000540582.1	-	8	875	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	EDEM2_ENST00000374492.3_Nonsense_Mutation_p.E93*|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Nonsense_Mutation_p.E56*			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	93					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTTTGGAATTCTGAGACATTC	0.448000													14	65					2.32078e-09	2.4491e-09	0.132662	1	0
SEC24C	9632	broad.mit.edu	37	10	75529650	75529650	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:75529650G>T	ENST00000339365.2	+	21	2901	c.2739G>T	c.(2737-2739)aaG>aaT	p.K913N	SEC24C_ENST00000540668.1_Missense_Mutation_p.K161N|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.K161N|SEC24C_ENST00000411652.2_Missense_Mutation_p.K794N|SEC24C_ENST00000345254.4_Missense_Mutation_p.K913N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	913					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTGTGTTGAAGAGTGATGTCC	0.463000													46	266					1.56793e-16	1.71224e-16	0.139131	1	0
ZFP36L1	677	broad.mit.edu	37	14	69256568	69256568	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:69256568G>A	ENST00000439696.2	-	2	1000	c.699C>T	c.(697-699)agC>agT	p.S233S	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.S233S	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	233					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTCATCGGCGCTCAGAATAG	0.627000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	269					0	0	0.116897	0	0
SPTB	6710	broad.mit.edu	37	14	65233386	65233386	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:65233386G>C	ENST00000542895.1	-	32	6499	c.6403C>G	c.(6403-6405)Cac>Gac	p.H2135D	SPTB_ENST00000556626.1_Intron|SPTB_ENST00000389721.5_Missense_Mutation_p.H2135D|SPTB_ENST00000389722.3_Intron			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2135					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TAGTAGGGGTGAGAGGGCTCT	0.652000													41	233					0	0	0.080422	0	0
ERBB2	2064	broad.mit.edu	37	17	37880180	37880180	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:37880180G>C	ENST00000406381.2	+	21	2644	c.2134G>C	c.(2134-2136)Gat>Cat	p.D712H	ERBB2_ENST00000584601.1_Missense_Mutation_p.D712H|ERBB2_ENST00000269571.5_Missense_Mutation_p.D742H|ERBB2_ENST00000584450.1_Missense_Mutation_p.D742H|ERBB2_ENST00000541774.1_Missense_Mutation_p.D727H|ERBB2_ENST00000540147.1_Missense_Mutation_p.D712H|ERBB2_ENST00000445658.2_Missense_Mutation_p.D466H	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	742					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTGGATCCCTGATGGGGAGAA	0.502000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			4	67					0	0	0.021553	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328411	61328411	+	Missense_Mutation	SNP	C	C	G	rs148776258	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:61328411C>G	ENST00000283752.5	-	2	183	c.40G>C	c.(40-42)Gac>Cac	p.D14H	SERPINB3_ENST00000332821.8_Missense_Mutation_p.D14H|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	14					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGGAACAGGTCGAACATGAAC	0.428000													87	226					0	0	0.139131	0	0
GABRR2	2570	broad.mit.edu	37	6	89974233	89974233	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:89974233G>C	ENST00000402938.3	-	8	1117	c.984C>G	c.(982-984)ctC>ctG	p.L328L	GABRR2_ENST00000602399.1_Silent_p.L353L			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	353					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		AGCTGACCCAGAGGTAGATGT	0.592000													22	95					0	0	0.062417	0	0
COL6A3	1293	broad.mit.edu	37	2	238255176	238255176	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:238255176C>T	ENST00000295550.4	-	32	7514	c.7062G>A	c.(7060-7062)caG>caA	p.Q2354Q	COL6A3_ENST00000347401.3_Silent_p.Q2153Q|COL6A3_ENST00000346358.4_Silent_p.Q2154Q|COL6A3_ENST00000472056.1_Silent_p.Q1747Q|COL6A3_ENST00000409809.1_Silent_p.Q2148Q|COL6A3_ENST00000353578.4_Silent_p.Q2148Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2354	Collagen-like 5.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTCTCCCTTCTGTCCAACTA	0.507000													39	34					0	0	0.104719	0	0
PLG	5340	broad.mit.edu	37	6	161134091	161134091	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:161134091G>A	ENST00000308192.9	+	5	544	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	161	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGATCCGCAGGGGCCCTGGTG	0.478000													74	154					0	0	0.139131	0	0
ALOX15	246	broad.mit.edu	37	17	4542786	4542786	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4542786G>A	ENST00000570836.1	-	3	372	c.276C>T	c.(274-276)gtC>gtT	p.V92V	ALOX15_ENST00000574640.1_Silent_p.V53V|ALOX15_ENST00000293761.3_Silent_p.V92V|ALOX15_ENST00000545513.1_Silent_p.V114V			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	92	PLAT.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AAGGGAACCTGACCTCGTCCC	0.647000													19	85					0	0	0.049695	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196363	8196363	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:8196363G>A	ENST00000162391.3	+	4	1620	c.475G>A	c.(475-477)Gat>Aat	p.D159N	FOXJ2_ENST00000428177.2_Missense_Mutation_p.D159N	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	159					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCAGATGATGATGTAAGTTC	0.493000													19	268					0	0	0.049695	0	0
NLGN1	22871	broad.mit.edu	37	3	173322762	173322762	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:173322762G>C	ENST00000457714.1	+	3	803	c.374G>C	c.(373-375)aGa>aCa	p.R125T	NLGN1_ENST00000361589.4_Missense_Mutation_p.R125T|NLGN1_ENST00000545397.1_Missense_Mutation_p.R125T|NLGN1_ENST00000401917.3_Missense_Mutation_p.R125T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	125					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTGATGGCAGATTGCCAGAA	0.433000													26	542					0	0	0.116897	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448482	89448482	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:89448482C>G	ENST00000399794.2	-	3	1743	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T	RBMXL1_ENST00000321792.5_Missense_Mutation_p.R343T|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	343	Ser-rich.						nucleotide binding|RNA binding										TCTTTCTTGTCTGCCAACCCT	0.512000													75	245					0	0	0.139131	0	0
OR51T1	401665	broad.mit.edu	37	11	4904108	4904108	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:4904108G>A	ENST00000380378.1	+	1	1060	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.D327N|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGATGGGATTGAAGGTA	0.468000													13	84					0	0	0.105934	0	0
CCDC64	92558	broad.mit.edu	37	12	120530923	120530923	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:120530923C>T	ENST00000397558.2	+	9	1680	c.1680C>T	c.(1678-1680)atC>atT	p.I560I	CCDC64_ENST00000546857.1_3'UTR|CCDC64_ENST00000446727.2_Silent_p.I231I|CCDC64_ENST00000257583.4_Silent_p.I257I	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	560					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCCCAGCATCGCTGAAGGCA	0.602000													5	35					0	0	0.014758	0	0
BDKRB1	623	broad.mit.edu	37	14	96730571	96730571	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:96730571G>C	ENST00000216629.6	+	3	1158	c.552G>C	c.(550-552)ctG>ctC	p.L184L	BDKRB1_ENST00000553356.1_Silent_p.L184L|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	184					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCCCAGATCTGAACATCACCG	0.592000													32	175					0	0	0.050027	0	0
PCNX	22990	broad.mit.edu	37	14	71485846	71485846	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:71485846C>T	ENST00000304743.2	+	12	3563	c.3117C>T	c.(3115-3117)ctC>ctT	p.L1039L	PCNX_ENST00000439984.3_Silent_p.L928L|PCNX_ENST00000238570.5_Silent_p.L1039L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1039						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTTCTGCCTCGTCATAGCCA	0.423000													48	323					0	0	0.139131	0	0
AGBL5	60509	broad.mit.edu	37	2	27278716	27278716	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:27278716G>A	ENST00000360131.4	+	7	1234	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	AGBL5_ENST00000323064.8_Missense_Mutation_p.D359N	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	359					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCCTCCTGATGCTCCTGT	0.527000													25	118					0	0	0.099896	0	0
PHYHD1	254295	broad.mit.edu	37	9	131704017	131704017	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:131704017C>T	ENST00000308941.5	+	12	1299	c.879C>T	c.(877-879)ctC>ctT	p.L293L	PHYHD1_ENST00000353176.5_3'UTR|PHYHD1_ENST00000372592.3_3'UTR|PHYHD1_ENST00000421063.2_3'UTR|RP11-101E3.5_ENST00000482796.1_Intron	NM_174933.3	NP_777593.2			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						CAGGAGCCCTCGCCCCTCCCG	0.592000													27	107					0	0	0.134883	0	0
NOC2L	26155	broad.mit.edu	37	1	892498	892498	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:892498G>A	ENST00000327044.6	-	3	384	c.335C>T	c.(334-336)tCc>tTc	p.S112F	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	112						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		ATCTGGCAGGGAGTGGAACGG	0.582000													66	389					0	0	0.139131	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502348	140502348	+	Silent	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140502348A>G	ENST00000194152.1	+	1	768	c.768A>G	c.(766-768)ctA>ctG	p.L256L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		256	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGCCCCCTAGACTCTCCAA	0.448000													57	161					0	0	0.139131	0	0
SDHA	6389	broad.mit.edu	37	5	226112	226112	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:226112T>C	ENST00000264932.6	+	5	686	c.571T>C	c.(571-573)Tgt>Cgt	p.C191R	SDHA_ENST00000510361.1_Missense_Mutation_p.C143R|SDHA_ENST00000504309.1_Missense_Mutation_p.C191R	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	191					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCGGTGCTGCTGTGTGGCTGA	0.562000									Familial Paragangliomas				23	171					0	0	0.108266	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129856193	129856193	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:129856193T>A	ENST00000373425.3	-	3	1447	c.830A>T	c.(829-831)gAc>gTc	p.D277V	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_5'UTR|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	277	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTGCAGGCAGTCTCTCCATGG	0.617000													38	103					0	0	0.092188	0	0
TLR4	7099	broad.mit.edu	37	9	120476116	120476116	+	Silent	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:120476116T>C	ENST00000355622.6	+	3	1811	c.1710T>C	c.(1708-1710)agT>agC	p.S570S	TLR4_ENST00000394487.4_Silent_p.S530S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	570					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTCCAAGTAGTCTAGCTTTCT	0.413000													73	60					0	0	0.139131	0	0
FOSL2	2355	broad.mit.edu	37	2	28634820	28634820	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:28634820G>C	ENST00000264716.4	+	4	1349	c.486G>C	c.(484-486)gaG>gaC	p.E162D	FOSL2_ENST00000545753.1_Missense_Mutation_p.E123D|FOSL2_ENST00000379619.1_Missense_Mutation_p.E154D	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	162	Leucine-zipper.				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGGAGGAGGAGAAGTCAGGCC	0.557000													4	91					0	0	0.009096	0	0
GRM5	2915	broad.mit.edu	37	11	88300894	88300894	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:88300894G>C	ENST00000418177.2	-	8	2324	c.1957C>G	c.(1957-1959)Ctc>Gtc	p.L653V	GRM5_ENST00000305432.5_Missense_Mutation_p.L653V|GRM5_ENST00000305447.4_Missense_Mutation_p.L653V|GRM5_ENST00000393297.1_Missense_Mutation_p.L653V|GRM5_ENST00000455756.2_Missense_Mutation_p.L653V			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	653					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCTGGGGAGAGACCAATGCCA	0.493000													16	12					0	0	0.132662	0	0
LILRB5	10990	broad.mit.edu	37	19	54758747	54758747	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:54758747G>A	ENST00000450632.1	-	6	1156	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	LILRB5_ENST00000345866.6_Missense_Mutation_p.S269L|LILRB5_ENST00000316219.5_Missense_Mutation_p.S369L|LILRB5_ENST00000449561.2_Missense_Mutation_p.S369L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	369	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGTACTTTGACTTTAGACA	0.527000													7	84					0	0	0.029380	0	0
PCM1	5108	broad.mit.edu	37	8	17817912	17817912	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:17817912G>C	ENST00000325083.8	+	15	2720	c.2281G>C	c.(2281-2283)Gag>Cag	p.E761Q	PCM1_ENST00000519253.1_Missense_Mutation_p.E761Q|PCM1_ENST00000524226.1_Missense_Mutation_p.E762Q	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	761					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGACATTCAGGAGAAAATTCA	0.333000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								27	63					0	0	0.099896	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140868963	140868963	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140868963G>C	ENST00000252087.1	+	1	156	c.156G>C	c.(154-156)ctG>ctC	p.L52L	PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		52	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGATCTGGGCTTAAAGA	0.582000													13	98					0	0	0.033300	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070078	114070078	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:114070078C>T	ENST00000462705.1	-	11	1449	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ZBTB20_ENST00000357258.3_Missense_Mutation_p.E210K|ZBTB20_ENST00000393785.2_Missense_Mutation_p.E210K|ZBTB20_ENST00000474710.1_Missense_Mutation_p.E283K|ZBTB20_ENST00000481632.1_Missense_Mutation_p.E210K|ZBTB20_ENST00000471418.1_Missense_Mutation_p.E210K|ZBTB20_ENST00000464560.1_Missense_Mutation_p.E210K	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGGGGTCTTCCATGTGGTGG	0.662000													6	208					0	0	0.021553	0	0
CCP110	9738	broad.mit.edu	37	16	19543747	19543747	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:19543747G>C	ENST00000396212.2	+	4	587	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	CCP110_ENST00000396208.2_Missense_Mutation_p.E51Q|CCP110_ENST00000381396.5_Missense_Mutation_p.E51Q	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	51	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GCTTAACATTGAGAAAAGAAA	0.343000													16	66					0	0	0.132662	0	0
CLUH	23277	broad.mit.edu	37	17	2600219	2600219	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:2600219T>A	ENST00000570628.1	-	11	1970	c.1865A>T	c.(1864-1866)aAg>aTg	p.K622M	CLUH_ENST00000538975.1_Missense_Mutation_p.K622M|CLUH_ENST00000435359.1_Missense_Mutation_p.K622M|CLUH_ENST00000575014.1_Missense_Mutation_p.K554M					clustered mitochondria (cluA/CLU1) homolog																		GGCGGCCAGCTTCATAAAGAG	0.627000													6	8					0	0	0.021553	0	0
PLG	5340	broad.mit.edu	37	6	161134092	161134092	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:161134092G>A	ENST00000308192.9	+	5	545	c.482G>A	c.(481-483)gGg>gAg	p.G161E	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	161	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GATCCGCAGGGGCCCTGGTGC	0.483000													74	155					0	0	0.139131	0	0
TOX4	9878	broad.mit.edu	37	14	21963395	21963395	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:21963395C>G	ENST00000405508.1	+	9	1925	c.1649C>G	c.(1648-1650)tCt>tGt	p.S550C	TOX4_ENST00000448790.2_Missense_Mutation_p.S527C|TOX4_ENST00000262709.3_Missense_Mutation_p.S550C			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	550						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAGGTTGAGTCTCCTTCTCAG	0.483000													63	168					0	0	0.139131	0	0
HERC1	8925	broad.mit.edu	37	15	63966767	63966767	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:63966767T>A	ENST00000443617.2	-	38	7707	c.7620A>T	c.(7618-7620)gaA>gaT	p.E2540D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2540					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGTGGCCATTTTCAGCCAGAA	0.483000													9	18					0	0	0.058154	0	0
SLC9A7	84679	broad.mit.edu	37	X	46466624	46466624	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:46466624C>A	ENST00000328306.4	-	17	1966	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	647					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTTCCTCTCTCAGTGGCTCTT	0.498000													9	78					0.00829132	0.00846486	0.069234	1	0
CCDC30	728621	broad.mit.edu	37	1	43021987	43021987	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:43021987G>T	ENST00000428554.2	+	12	1729	c.586G>T	c.(586-588)Gtg>Ttg	p.V196L	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.V196L|CCDC30_ENST00000340612.4_Missense_Mutation_p.V196L			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	196										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TGAGGAAATTGTGAGGCTTAG	0.463000													15	37					1.49906e-05	1.54844e-05	0.119110	1	0
PTCH2	8643	broad.mit.edu	37	1	45296710	45296710	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:45296710C>T	ENST00000447098.2	-	6	634	c.623G>A	c.(622-624)cGc>cAc	p.R208H	PTCH2_ENST00000372192.3_Missense_Mutation_p.R208H	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	208					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GATATCCGGGCGGCCGCTGAG	0.612000									Basal Cell Nevus syndrome				19	28					0	0	0.038395	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22447304	22447304	+	RNA	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:22447304G>C	ENST00000390443.3	+	0	505																											CCTTCCACTTGAGGAAACCCT	0.478000													26	93					0	0	0.099896	0	0
HIBADH	11112	broad.mit.edu	37	7	27689115	27689115	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:27689115C>T	ENST00000265395.2	-	2	435	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	77					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TCTTGAAACTCTTTGCAGGCA	0.353000													26	49					0	0	0.116897	0	0
SPAG7	9552	broad.mit.edu	37	17	4863614	4863614	+	Splice_Site	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4863614C>A	ENST00000573366.1	-	4	948		c.e4-1		SPAG7_ENST00000575142.1_Splice_Site|SPAG7_ENST00000206020.3_Splice_Site			O75391	SPAG7_HUMAN	sperm associated antigen 7							nucleus	nucleic acid binding|protein binding	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CACATCATGTCTGGGATGGGA	0.567000													31	46					2.52449e-32	2.8344e-32	0.092188	1	0
SELL	6402	broad.mit.edu	37	1	169672451	169672451	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:169672451C>T	ENST00000236147.4	-	6	1096	c.936G>A	c.(934-936)aaG>aaA	p.K312K	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	299	Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	p.K299N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AAATGGTTTTCTTCTTCCCAA	0.423000													3	51					0	0	0.115264	0	0
ATG2B	55102	broad.mit.edu	37	14	96777489	96777489	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:96777489C>T	ENST00000359933.4	-	28	5019	c.4126G>A	c.(4126-4128)Gat>Aat	p.D1376N	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1376										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTTCATATCTGCCTTGTTA	0.448000													35	347					0	0	0.064281	0	0
SNTA1	6640	broad.mit.edu	37	20	32026798	32026798	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:32026798G>A	ENST00000217381.2	-	2	616	c.345C>T	c.(343-345)tcC>tcT	p.S115S		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	115	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TGAAGATCTTGGAAATGAGAA	0.517000													15	214					0	0	0.146539	0	0
ZNF835	90485	broad.mit.edu	37	19	57175754	57175754	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:57175754G>A	ENST00000537055.2	-	2	1044	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCTCCGTGTGGATGCGCTGGT	0.682000													6	4					0	0	0.029380	0	0
SNHG14	104472715	broad.mit.edu	37	15	25429464	25429464	+	RNA	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:25429464G>C	ENST00000424208.1	+	0	450				SNORD115-8_ENST00000363856.1_RNA	NR_003305.1																						GGTCAATGATGAGAACCTTAC	0.517000													8	382					0	0	0.038147	0	0
CCDC63	160762	broad.mit.edu	37	12	111336787	111336787	+	Silent	SNP	C	C	T	rs141258896		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111336787C>T	ENST00000308208.5	+	10	1442	c.1200C>T	c.(1198-1200)taC>taT	p.Y400Y	CCDC63_ENST00000552694.1_Silent_p.Y321Y|CCDC63_ENST00000545036.1_Silent_p.Y360Y	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	400										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGAGCAAGTACGGGGAGGTCA	0.512000													16	74					0	0	0.033300	0	0
AC008103.5	0	broad.mit.edu	37	22	18842450	18842450	+	RNA	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:18842450G>C	ENST00000412938.1	+	0	2208																											GAGTGGCTCAGAGCGGGGCTC	0.627000													2	13					0	0	0.115264	0	0
MYLPF	29895	broad.mit.edu	37	16	30387201	30387201	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30387201T>C	ENST00000322861.7	+	2	145	c.64T>C	c.(64-66)Ttc>Ctc	p.F22L		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	22					skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			CTTCTCCATGTTCGACCAGAC	0.592000													11	41					0	0	0.080935	0	0
MYO1F	4542	broad.mit.edu	37	19	8601428	8601428	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:8601428C>G	ENST00000338257.8	-	18	2120	c.1853G>C	c.(1852-1854)aGa>aCa	p.R618T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	618	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GAAGCCGGCTCTGCGCACCCT	0.652000													39	81					0	0	0.074837	0	0
ICAM1	3383	broad.mit.edu	37	19	10395132	10395132	+	Nonsense_Mutation	SNP	G	G	T	rs143008699		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:10395132G>T	ENST00000264832.3	+	5	1304	c.979G>T	c.(979-981)Gag>Tag	p.E327*	ICAM1_ENST00000423829.2_Nonsense_Mutation_p.E105*|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	327	Ig-like C2-type 4.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.E327K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AGAAGGGACCGAGGTGACAGT	0.642000													44	91					1.41504e-22	1.57665e-22	0.124865	1	0
ACSL4	2182	broad.mit.edu	37	X	108904860	108904860	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:108904860G>T	ENST00000340800.2	-	15	2224	c.1720C>A	c.(1720-1722)Cta>Ata	p.L574I	ACSL4_ENST00000348502.6_Missense_Mutation_p.L533I|ACSL4_ENST00000469796.2_Missense_Mutation_p.L574I	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	574					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AACTTCACTAGATCTTTCTTA	0.358000													21	143					1.37657e-19	1.52604e-19	0.062417	1	0
CHST5	23563	broad.mit.edu	37	16	75563522	75563522	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:75563522C>G	ENST00000336257.3	-	3	2155	c.761G>C	c.(760-762)tGg>tCg	p.W254S	CHST5_ENST00000541075.1_Missense_Mutation_p.W260S|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	254					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGCCTCCACCCACTTGCCGTT	0.731000													31	68					0	0	0.050027	0	0
PTPRK	5796	broad.mit.edu	37	6	128643138	128643138	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:128643138G>C	ENST00000525459.1	-	3	769	c.541C>G	c.(541-543)Ctc>Gtc	p.L181V	PTPRK_ENST00000368227.3_Intron|PTPRK_ENST00000368226.4_Intron|PTPRK_ENST00000532331.1_Intron|PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000524481.1_Intron|PTPRK_ENST00000368215.3_Intron|PTPRK_ENST00000368207.3_Intron|PTPRK_ENST00000368213.5_Intron			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	0	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CATATAGTGAGAACTGATGAC	0.428000													8	47					0	0	0.038147	0	0
KIAA1429	25962	broad.mit.edu	37	8	95507153	95507153	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:95507153C>T	ENST00000297591.5	-	20	4651	c.4576G>A	c.(4576-4578)Gat>Aat	p.D1526N	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1526					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAACTGATCATCCATGACA	0.318000													32	359					0	0	0.074837	0	0
DLGAP5	9787	broad.mit.edu	37	14	55643828	55643828	+	Missense_Mutation	SNP	T	T	C	rs139172891		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:55643828T>C	ENST00000247191.2	-	8	1217	c.1001A>G	c.(1000-1002)aAt>aGt	p.N334S	DLGAP5_ENST00000395425.2_Missense_Mutation_p.N334S	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	334					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAAAAAGCATTGGCACTTCT	0.378000													30	64					0	0	0.050027	0	0
BBX	56987	broad.mit.edu	37	3	107492069	107492069	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492069G>C	ENST00000415149.2	+	11	1828	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q	BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.E501Q|BBX_ENST00000325805.8_Missense_Mutation_p.E501Q|BBX_ENST00000406780.1_Missense_Mutation_p.E501Q	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	501	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E501Q(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CTGGGGCATAGAGAAACTTGG	0.473000													115	72					0	0	0.139131	0	0
C18orf21	83608	broad.mit.edu	37	18	33554876	33554876	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:33554876G>C	ENST00000592875.1	+	3	764	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	C18orf21_ENST00000333234.5_5'UTR	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	40										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GAGCACTTTTGAAGAAACGTG	0.353000													25	118					0	0	0.108266	0	0
S1PR3	1903	broad.mit.edu	37	9	91617111	91617111	+	Silent	SNP	C	C	T	rs138808274		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:91617111C>T	ENST00000375846.3	+	1	5691	c.996C>T	c.(994-996)ctC>ctT	p.L332L	S1PR3_ENST00000358157.2_Silent_p.L332L			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	332					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AGCCTGCGCTCGACCCAAGCA	0.632000													6	79					0	0	0.029380	0	0
KLRG1	10219	broad.mit.edu	37	12	9161668	9161668	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:9161668C>T	ENST00000266551.4	+	4	470	c.455C>T	c.(454-456)tCa>tTa	p.S152L	KLRG1_ENST00000356986.3_Missense_Mutation_p.S152L|KLRG1_ENST00000538029.1_3'UTR	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	152	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTAAACTTCTCAAGGTAAGGG	0.443000													18	24					0	0	0.038395	0	0
MYOM3	127294	broad.mit.edu	37	1	24432564	24432564	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:24432564C>G	ENST00000330966.7	-	5	571	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.E136Q|MYOM3_ENST00000329601.7_Missense_Mutation_p.E136Q			Q5VTT5	MYOM3_HUMAN	myomesin 3	136										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCTTCTCCTCTGTCTGGAGG	0.617000													7	36					0	0	0.038147	0	0
CACNB3	784	broad.mit.edu	37	12	49219528	49219528	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:49219528C>T	ENST00000301050.2	+	9	917	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	CACNB3_ENST00000547230.1_Missense_Mutation_p.R199C|CACNB3_ENST00000536187.2_Missense_Mutation_p.R239C|CACNB3_ENST00000540990.1_Missense_Mutation_p.R227C|CACNB3_ENST00000547392.1_Missense_Mutation_p.R213C	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	240					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CATCATTGAGCGCTCCTCTGC	0.572000													20	77					0	0	0.062417	0	0
NAB2	4665	broad.mit.edu	37	12	57485044	57485044	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:57485044G>C	ENST00000300131.3	+	2	598	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.E74Q|NAB2_ENST00000342556.6_Missense_Mutation_p.E74Q	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	74	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCAGCTGTGTGAGGCGGGTGA	0.632000													25	219					0	0	0.125774	0	0
LDLR	3949	broad.mit.edu	37	19	11231182	11231182	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:11231182G>A	ENST00000558518.1	+	14	2311	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	LDLR_ENST00000455727.2_Missense_Mutation_p.M540I|LDLR_ENST00000557933.1_Missense_Mutation_p.M708I|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.M667I|LDLR_ENST00000558013.1_Missense_Mutation_p.M708I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	708	EGF-like 3.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CCAGGGACATGAGGAGCTGCC	0.627000													12	67					0	0	0.105934	0	0
LRSAM1	90678	broad.mit.edu	37	9	130253536	130253536	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:130253536G>C	ENST00000323301.4	+	19	2069	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	LRSAM1_ENST00000373322.1_Missense_Mutation_p.E489Q|LRSAM1_ENST00000373324.4_Intron|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E489Q	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	489					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACACAGCTGGAGTTAAAGAG	0.483000													11	95					0	0	0.069234	0	0
KMT2D	8085	broad.mit.edu	37	12	49443980	49443980	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:49443980G>C	ENST00000301067.7	-	11	3390	c.3391C>G	c.(3391-3393)Ccg>Gcg	p.P1131A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGTGAACCCGGAGCATCAATC	0.637000													22	30					0	0	0.076483	0	0
SDAD1	55153	broad.mit.edu	37	4	76886972	76886972	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:76886972A>G	ENST00000356260.5	-	13	1167	c.1049T>C	c.(1048-1050)gTa>gCa	p.V350A	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.V313A	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	350					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATCTTGGTTACTTCTGAAAA	0.473000													37	108					0	0	0.069456	0	0
ELMOD3	84173	broad.mit.edu	37	2	85598302	85598302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:85598302G>T	ENST00000315658.7	+	7	713	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.E152*	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	152					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CCTTCGGGAAGAAAGGGACTT	0.587000													11	128					0.000978159	0.00100565	0.080935	1	0
LINGO1	84894	broad.mit.edu	37	15	77906720	77906720	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:77906720G>A	ENST00000355300.6	-	2	1703	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	LINGO1_ENST00000561030.1_Missense_Mutation_p.A504V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	510	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ATGCAGGTGGGCGGGCATGGA	0.657000													21	71					0	0	0.055883	0	0
NUDT19	390916	broad.mit.edu	37	19	33183421	33183421	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:33183421C>G	ENST00000397061.3	+	1	555	c.555C>G	c.(553-555)ctC>ctG	p.L185L		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	185	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GCGCCCACCTCGACTGCACAC	0.721000													5	8					0	0	0.014758	0	0
INTS10	55174	broad.mit.edu	37	8	19709251	19709251	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:19709251C>G	ENST00000397977.3	+	17	2466	c.2068C>G	c.(2068-2070)Ctg>Gtg	p.L690V		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	690					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGGAGAGAATCTGATGGTGGT	0.557000													18	120					0	0	0.038395	0	0
C15orf39	56905	broad.mit.edu	37	15	75500848	75500848	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:75500848C>A	ENST00000360639.2	+	2	2779	c.2459C>A	c.(2458-2460)tCt>tAt	p.S820Y	C15orf39_ENST00000394987.4_Missense_Mutation_p.S820Y|C15orf39_ENST00000567617.1_Missense_Mutation_p.S820Y			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	820										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AAGCTGCTGTCTCAGCTGCAG	0.677000													3	21					0.115264	0.116057	0.115264	1	0
INTS2	57508	broad.mit.edu	37	17	59968949	59968949	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:59968949C>T	ENST00000444766.3	-	14	1899	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	INTS2_ENST00000251334.6_Silent_p.S600S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	608					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.S608S(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GATTAGATTTCGACGCAGGAG	0.373000													66	114					0	0	0.139131	0	0
PFKFB1	5207	broad.mit.edu	37	X	54971904	54971904	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54971904C>G	ENST00000375006.3	-	10	1136	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	PFKFB1_ENST00000374992.2_Missense_Mutation_p.D156H|PFKFB1_ENST00000545676.1_Missense_Mutation_p.D291H	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	356	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CGATATTTATCTTGGTCTCGC	0.478000													5	70					0	0	0.038147	0	0
STON2	85439	broad.mit.edu	37	14	81743896	81743896	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:81743896C>T	ENST00000555447.1	-	6	2171	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	STON2_ENST00000267540.2_Missense_Mutation_p.D587N	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	587	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATCTGGTTGTCTCCTTTGCTC	0.507000													14	152					0	0	0.105934	0	0
TECTA	7007	broad.mit.edu	37	11	120998984	120998984	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:120998984G>A	ENST00000392793.1	+	9	2569	c.2298G>A	c.(2296-2298)ctG>ctA	p.L766L	TECTA_ENST00000264037.2_Silent_p.L766L			O75443	TECTA_HUMAN	tectorin alpha	766	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGCTTGGCTGCGGGGACTTC	0.587000													21	63					0	0	0.055883	0	0
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	193					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483000													6	290					0	0	0.021553	0	0
CD163L1	283316	broad.mit.edu	37	12	7556331	7556331	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:7556331G>A	ENST00000313599.3	-	6	1265	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	CD163L1_ENST00000396630.1_Missense_Mutation_p.A403V|CD163L1_ENST00000416109.2_Missense_Mutation_p.A413V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	403	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AACCACAAGGGCTTGTTCATT	0.443000													86	137					0	0	0.139131	0	0
PRR14	78994	broad.mit.edu	37	16	30666893	30666893	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30666893T>A	ENST00000542965.2	+	9	1841	c.1385T>A	c.(1384-1386)aTg>aAg	p.M462K	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.M462K			Q9BWN1	PRR14_HUMAN	proline rich 14	462										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CTTACACCAATGGGACTGCCT	0.517000													7	39					0	0	0.038147	0	0
LRRC10	376132	broad.mit.edu	37	12	70004349	70004349	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:70004349C>A	ENST00000361484.3	-	1	593	c.270G>T	c.(268-270)ctG>ctT	p.L90L		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	90						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCACCTGGGGCAGAGCCTTGA	0.562000													23	56					3.62473e-10	3.84362e-10	0.062417	1	0
MAGEB1	4112	broad.mit.edu	37	X	30269381	30269381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:30269381C>A	ENST00000378981.3	+	4	1092	c.771C>A	c.(769-771)taC>taA	p.Y257*	MAGEB1_ENST00000397550.1_Nonsense_Mutation_p.Y257*|MAGEB1_ENST00000397548.2_Nonsense_Mutation_p.Y257*	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	257	MAGE.							p.Y257Y(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ATCTGAAGTACGAGCAGGTGC	0.493000													35	85					2.42023e-17	2.6562e-17	0.059317	1	0
RGS12	6002	broad.mit.edu	37	4	3441262	3441262	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:3441262C>T	ENST00000344733.5	+	18	5099	c.4195C>T	c.(4195-4197)Cgg>Tgg	p.R1399W	RGS12_ENST00000338806.4_Missense_Mutation_p.R751W	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1399						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCGCCCGGGCGGGATGGTGG	0.647000													21	32					0	0	0.062417	0	0
DNAH9	1770	broad.mit.edu	37	17	11835359	11835359	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:11835359C>T	ENST00000262442.3	+	64	12202	c.12134C>T	c.(12133-12135)aCg>aTg	p.T4045M	DNAH9_ENST00000454412.2_Missense_Mutation_p.T3969M|DNAH9_ENST00000396001.2_Missense_Mutation_p.T357M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4045	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCGGGAGACGGAGTTTAAG	0.498000													10	475					0	0	0.093190	0	0
USE1	55850	broad.mit.edu	37	19	17330509	17330509	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:17330509G>A	ENST00000445667.2	+	8	727	c.667G>A	c.(667-669)Gag>Aag	p.E223K	USE1_ENST00000596136.1_3'UTR|USE1_ENST00000263897.5_Missense_Mutation_p.E223K|USE1_ENST00000379776.4_3'UTR			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	223					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						AGAGCGTCTGGAGCAGCACAC	0.522000													32	74					0	0	0.064281	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50656807	50656807	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:50656807G>A	ENST00000248846.5	-	23	5083	c.4979C>T	c.(4978-4980)tCt>tTt	p.S1660F	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1660					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAACTGCACAGAGCCGGCCAT	0.657000													14	59					0	0	0.033300	0	0
NDRG3	57446	broad.mit.edu	37	20	35299789	35299789	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:35299789C>G	ENST00000373803.2	-	9	599	c.543G>C	c.(541-543)ctG>ctC	p.L181L	NDRG3_ENST00000349004.1_Silent_p.L181L|NDRG3_ENST00000373773.3_Silent_p.L86L|NDRG3_ENST00000359675.2_Silent_p.L169L|NDRG3_ENST00000540765.1_Silent_p.L77L			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	181					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CATTGGTTGTCAGGCCAGAGA	0.378000													35	56					0	0	0.059317	0	0
KIAA1279	26128	broad.mit.edu	37	10	70748834	70748834	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:70748834G>C	ENST00000361983.4	+	1	348	c.246G>C	c.(244-246)gaG>gaC	p.E82D		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	82					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AGGTGGTGGAGCCCGAGGGGC	0.731000													3	46					0	0	0.115264	0	0
STAM	8027	broad.mit.edu	37	10	17730107	17730107	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:17730107C>G	ENST00000377524.3	+	5	594	c.379C>G	c.(379-381)Cta>Gta	p.L127V	STAM_ENST00000540523.1_Missense_Mutation_p.L16V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	127	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						ACAGCTTAGTCTAATATCAGC	0.363000													11	256					0	0	0.069234	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215016	32215016	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:32215016G>A	ENST00000400246.1	+	22	1817	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	DEPDC5_ENST00000536766.1_Missense_Mutation_p.E531K|DEPDC5_ENST00000400248.1_Missense_Mutation_p.E559K|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E559K|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E559K|DEPDC5_ENST00000382112.3_Missense_Mutation_p.E559K|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E559K|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E559K|DEPDC5_ENST00000382105.2_Missense_Mutation_p.E559K			O75140	DEPD5_HUMAN	DEP domain containing 5	559					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGATGTCCTGGAGAACATGAT	0.498000													5	151					0	0	0.014758	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340355	100340355	+	RNA	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:100340355C>G	ENST00000341853.1	-	0	571					NR_003260.1																						GAAGCAGCATCTCGTCGCGCC	0.612000													4	31					0	0	0.009096	0	0
IGDCC4	57722	broad.mit.edu	37	15	65702644	65702644	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:65702644G>C	ENST00000352385.2	-	3	644	c.435C>G	c.(433-435)ttC>ttG	p.F145L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	145	Ig-like C2-type 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTGCAGAGAGAAGTCTGCGA	0.557000													15	113					0	0	0.132662	0	0
STAG3	10734	broad.mit.edu	37	7	99778218	99778218	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:99778218G>C	ENST00000426455.1	+	2	446	c.39G>C	c.(37-39)aaG>aaC	p.K13N	STAG3_ENST00000394018.2_Missense_Mutation_p.K13N|STAG3_ENST00000317296.5_Missense_Mutation_p.K13N			Q9UJ98	STAG3_HUMAN	stromal antigen 3	13					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGATACCAAGAGGGCCTTGT	0.522000													135	276					0	0	0.139131	0	0
BTK	695	broad.mit.edu	37	X	100615599	100615599	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:100615599C>T	ENST00000308731.7	-	8	896	c.733G>A	c.(733-735)Gag>Aag	p.E245K	BTK_ENST00000372880.1_Missense_Mutation_p.E245K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	245	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGCTTTCCTCCAAGATAAAA	0.478000									Agammaglobulinemia, X-linked				6	180					0	0	0.029380	0	0
PHRF1	57661	broad.mit.edu	37	11	607897	607897	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:607897C>T	ENST00000264555.5	+	14	2569	c.2441C>T	c.(2440-2442)tCa>tTa	p.S814L	PHRF1_ENST00000416188.2_Missense_Mutation_p.S813L|PHRF1_ENST00000413872.2_Missense_Mutation_p.S812L|PHRF1_ENST00000533464.1_Missense_Mutation_p.S810L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	814							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGAACCCCTCACCCCTCTTC	0.617000													8	145					0	0	0.038147	0	0
TSR3	115939	broad.mit.edu	37	16	1400230	1400230	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:1400230G>C	ENST00000007390.2	-	4	638	c.532C>G	c.(532-534)Cca>Gca	p.P178A		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		GCAAGGTCTGGAAAGCCTGAC	0.592000													5	47					0	0	0.014758	0	0
DCHS2	54798	broad.mit.edu	37	4	155252756	155252756	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:155252756G>C	ENST00000357232.3	-	10	2343	c.2344C>G	c.(2344-2346)Ctg>Gtg	p.L782V	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	782	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tcacagaaCAGAGACTTGAGA	0.483000													12	27					0	0	0.105934	0	0
ADNP	23394	broad.mit.edu	37	20	49510939	49510939	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:49510939C>G	ENST00000396029.3	-	5	879	c.312G>C	c.(310-312)agG>agC	p.R104S	ADNP_ENST00000371602.4_Missense_Mutation_p.R104S|ADNP_ENST00000349014.3_Missense_Mutation_p.R104S|ADNP_ENST00000396032.3_Missense_Mutation_p.R104S	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TAAGGAGAATCCTATTTTCAA	0.408000													32	160					0	0	0.050027	0	0
DCP2	167227	broad.mit.edu	37	5	112337070	112337070	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:112337070C>G	ENST00000389063.2	+	6	800	c.602C>G	c.(601-603)tCt>tGt	p.S201C	DCP2_ENST00000543319.1_5'UTR|DCP2_ENST00000515408.1_Missense_Mutation_p.S201C	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	201	Nudix hydrolase.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		GAGTGGTTCTCTATTGAGAAA	0.333000													40	167					0	0	0.098360	0	0
GPR179	440435	broad.mit.edu	37	17	36486529	36486529	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:36486529C>A	ENST00000342292.4	-	11	2943	c.2923G>T	c.(2923-2925)Gcc>Tcc	p.A975S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	975						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ggtgccagggcaggggctggg	0.612000													22	43					3.10358e-05	3.19829e-05	0.069288	1	0
BCHE	590	broad.mit.edu	37	3	165547864	165547864	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:165547864G>C	ENST00000264381.3	-	2	1124	c.958C>G	c.(958-960)Ccg>Gcg	p.P320A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	320					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCCACGGTCGGACCAAAGTTT	0.373000													22	171					0	0	0.055883	0	0
DEAF1	10522	broad.mit.edu	37	11	687928	687928	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:687928T>A	ENST00000382409.3	-	4	1131	c.647A>T	c.(646-648)aAg>aTg	p.K216M	DEAF1_ENST00000338675.6_Missense_Mutation_p.K216M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	216	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GAGCCTGTTCTTGTACAGAGT	0.522000													17	84					0	0	0.049695	0	0
ZNF273	10793	broad.mit.edu	37	7	64388515	64388515	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:64388515C>T	ENST00000476120.1	+	4	880	c.809C>T	c.(808-810)gCc>gTc	p.A270V	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.A205V	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTGGCAAAGCCTTTAACCAG	0.328000													35	76					0	0	0.050027	0	0
SPATA5	166378	broad.mit.edu	37	4	123855341	123855341	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:123855341G>A	ENST00000274008.3	+	5	664	c.595G>A	c.(595-597)Gat>Aat	p.D199N	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	199					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAAAGGGGCAGATGGCATGAT	0.468000													6	124					0	0	0.021553	0	0
OPN1MW2	728458	broad.mit.edu	37	X	153496185	153496185	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153496185G>T	ENST00000369929.4	+	5	973	c.913G>T	c.(913-915)Gcc>Tcc	p.A305S		NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTGATGGCTGCCCTGCCGGC	0.552000													87	374					1.84561e-53	2.0882e-53	0.139131	1	0
PCDHA9	9752	broad.mit.edu	37	5	140230180	140230180	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140230180G>A	ENST00000378122.3	+	1	2824	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	PCDHA9_ENST00000532602.1_Silent_p.L700L|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTACCTGATCATCGCCA	0.662000													7	103					0	0	0.029380	0	0
GOLGB1	2804	broad.mit.edu	37	3	121395796	121395796	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:121395796C>G	ENST00000393667.3	-	17	9231	c.9121G>C	c.(9121-9123)Gac>Cac	p.D3041H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D3036H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3036					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTAAGCTGTCATTGAGCTGG	0.423000													14	217					0	0	0.119110	0	0
ETV4	2118	broad.mit.edu	37	17	41622708	41622708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:41622708C>A	ENST00000319349.5	-	3	386	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	ETV4_ENST00000591713.1_Nonsense_Mutation_p.E30*|ETV4_ENST00000538265.1_5'UTR|ETV4_ENST00000393664.2_Nonsense_Mutation_p.E30*|ETV4_ENST00000545954.1_5'UTR|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000545089.1_Nonsense_Mutation_p.E30*	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	30					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		ATCAGCGCTTCGCGCAAGCTC	0.647000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								7	19					0.00198382	0.00203006	0.029380	1	0
ARHGAP4	393	broad.mit.edu	37	X	153178174	153178174	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153178174C>T	ENST00000370028.3	-	13	1699	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N	ARHGAP4_ENST00000350060.5_Missense_Mutation_p.D508N|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.D330N|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D487N|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D485N	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	508	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCATGTCTCCCCCAAAG	0.557000													44	360					0	0	0.139131	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37535627	37535627	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:37535627G>T	ENST00000299824.1	+	8	1017	c.828G>T	c.(826-828)caG>caT	p.Q276H	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.Q234H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	276					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TTCAGATGCAGATGGCAGAGC	0.532000													17	163					4.63292e-17	5.07195e-17	0.049695	1	0
DLGAP5	9787	broad.mit.edu	37	14	55625360	55625360	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:55625360C>G	ENST00000247191.2	-	14	1969	c.1753G>C	c.(1753-1755)Gag>Cag	p.E585Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E585Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	585					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CTAATTCTCTCTCTCATTGCA	0.393000													40	87					0	0	0.139131	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356988	37356988	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:37356988G>A	ENST00000217420.1	+	2	1547	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	428					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ACGGGCGCCTGAAGTCCTGGG	0.652000													13	40					0	0	0.093190	0	0
NABP2	79035	broad.mit.edu	37	12	56620162	56620162	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:56620162C>T	ENST00000380198.2	+	5	893	c.395C>T	c.(394-396)tCa>tTa	p.S132L	NABP2_ENST00000267023.4_Missense_Mutation_p.S132L|NABP2_ENST00000341463.5_Missense_Mutation_p.S132L					nucleic acid binding protein 2																		AGCAACCCTTCAGCTTCCCAG	0.537000													25	143					0	0	0.045705	0	0
CCDC63	160762	broad.mit.edu	37	12	111345227	111345227	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111345227A>G	ENST00000308208.5	+	12	1881	c.1639A>G	c.(1639-1641)Agc>Ggc	p.S547G	CCDC63_ENST00000552694.1_Missense_Mutation_p.S468G|CCDC63_ENST00000545036.1_Missense_Mutation_p.S507G	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	547										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCGCGGAGACAGCCTGCCTGA	0.517000													7	50					0	0	0.029380	0	0
HTR1A	3350	broad.mit.edu	37	5	63256428	63256428	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:63256428G>A	ENST00000323865.3	-	1	1352	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	373					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGTGGCAGCTGCTCTCGCAGA	0.542000													94	167					0	0	0.139131	0	0
DIAPH1	1729	broad.mit.edu	37	5	140955833	140955833	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140955833C>G	ENST00000253811.6	-	14	1565	c.1425G>C	c.(1423-1425)gaG>gaC	p.E475D	DIAPH1_ENST00000398557.4_Missense_Mutation_p.E475D|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E421D|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E466D|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E466D|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E466D|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E475D|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E466D			O60610	DIAP1_HUMAN	diaphanous-related formin 1	475					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAGATTTCTCCACCTTTG	0.363000													36	145					0	0	0.092188	0	0
SNORA76C	677842	broad.mit.edu	37	17	62223821	62223821	+	RNA	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:62223821G>C	ENST00000408535.2	+	0	123					NR_002995.1																						TTTTAACCGCGAGCGACAAGA	0.602000													34	190					0	0	0.139131	0	0
BBX	56987	broad.mit.edu	37	3	107492134	107492134	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492134G>C	ENST00000415149.2	+	11	1893	c.1566G>C	c.(1564-1566)ttG>ttC	p.L522F	BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.L522F|BBX_ENST00000325805.8_Missense_Mutation_p.L522F|BBX_ENST00000406780.1_Missense_Mutation_p.L522F	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	522	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAGCATTTTGGATGCCAAGC	0.468000													34	56					0	0	0.139131	0	0
TOP1	7150	broad.mit.edu	37	20	39742733	39742733	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:39742733G>C	ENST00000361337.2	+	15	1826	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	526					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ATATGTGGTAGAGTTTGACTT	0.468000			T	NUP98	AML*								10	157					0	0	0.080935	0	0
KCNF1	3754	broad.mit.edu	37	2	11053214	11053214	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:11053214C>T	ENST00000295082.1	+	1	1152	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	221						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GAGCACCCGACGCTGGAGAAC	0.637000													16	36					0	0	0.043863	0	0
SPICE1	152185	broad.mit.edu	37	3	113187686	113187686	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:113187686G>C	ENST00000295872.4	-	9	1071	c.812C>G	c.(811-813)tCt>tGt	p.S271C		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	271					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGTCTCAGTAGATTCTTCAGG	0.418000													25	162					0	0	0.091800	0	0
PRPF6	24148	broad.mit.edu	37	20	62648154	62648154	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:62648154G>C	ENST00000535781.1	+	12	1714	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	535					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GATTGGGATTGAGGAGGAAGA	0.542000													7	75					0	0	0.047766	0	0
TTN	7273	broad.mit.edu	37	2	179403524	179403524	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:179403524G>A	ENST00000589042.1	-	354	99256	c.99032C>T	c.(99031-99033)tCc>tTc	p.S33011F	TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24138F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24071F|TTN_ENST00000342992.6_Missense_Mutation_p.S30443F|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S31370F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S23946F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31370							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)			ACTATCTTTGGATATTGAAAG	0.383000													37	249					0	0	0.064281	0	0
PTPRS	5802	broad.mit.edu	37	19	5274264	5274264	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:5274264C>A	ENST00000372412.4	-	3	416	c.183G>T	c.(181-183)aaG>aaT	p.K61N	PTPRS_ENST00000357368.4_Missense_Mutation_p.K61N|PTPRS_ENST00000587303.1_Missense_Mutation_p.K61N|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.K61N|PTPRS_ENST00000590509.1_Missense_Mutation_p.K61N|PTPRS_ENST00000592099.1_Missense_Mutation_p.K61N|PTPRS_ENST00000262963.6_Missense_Mutation_p.K61N|PTPRS_ENST00000353284.2_Missense_Mutation_p.K61N|PTPRS_ENST00000348075.2_Missense_Mutation_p.K61N			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	61	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCACTCGTGGCTTGGGGTCAC	0.602000													20	52					2.4624e-09	2.59231e-09	0.049695	1	0
KALRN	8997	broad.mit.edu	37	3	124376308	124376308	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:124376308G>C	ENST00000360013.3	+	40	6000	c.5873G>C	c.(5872-5874)aGa>aCa	p.R1958T	KALRN_ENST00000428018.2_Missense_Mutation_p.R229T|KALRN_ENST00000291478.4_Missense_Mutation_p.R261T|KALRN_ENST00000393496.1_Missense_Mutation_p.R299T|KALRN_ENST00000459915.1_Missense_Mutation_p.R50T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1957	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCATGAAGAGAATAGAAGAA	0.453000													4	129					0	0	0.009096	0	0
RECQL5	9400	broad.mit.edu	37	17	73658604	73658604	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:73658604C>T	ENST00000420326.2	-	4	885	c.726G>A	c.(724-726)ctG>ctA	p.L242L	RECQL5_ENST00000584999.1_Silent_p.L242L|RECQL5_ENST00000423245.2_Silent_p.L215L|RECQL5_ENST00000340830.5_Silent_p.L242L|RECQL5_ENST00000317905.5_Silent_p.L242L	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	242	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGAAGTCCTTCAGGTTCCCAT	0.512000								Other identified genes with known or suspected DNA repair function					223	410					0	0	0.139131	0	0
SUSD2	56241	broad.mit.edu	37	22	24580746	24580746	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:24580746C>G	ENST00000358321.3	+	5	881	c.620C>G	c.(619-621)tCa>tGa	p.S207*		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	207					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ATGCCCTACTCACAGGAGTGG	0.607000													11	52					0	0	0.080935	0	0
JAK2	3717	broad.mit.edu	37	9	5029862	5029862	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:5029862C>T	ENST00000381652.3	+	4	800	c.306C>T	c.(304-306)ttC>ttT	p.F102F	JAK2_ENST00000539801.1_Silent_p.F102F	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	102	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACCATGTCTTCCATATAGATG	0.363000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				24	252					0	0	0.099896	0	0
ERCC8	1161	broad.mit.edu	37	5	60183269	60183269	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:60183269C>G	ENST00000426742.2	-	12	1380	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	ERCC8_ENST00000543101.1_Missense_Mutation_p.E221Q|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000265038.5_Missense_Mutation_p.E374Q			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	374					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ATATTTACCTCATCATCATCA	0.348000													33	96					0	0	0.045705	0	0
WDR77	79084	broad.mit.edu	37	1	111989744	111989744	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:111989744G>A	ENST00000235090.5	-	4	672	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Intron	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	156					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACCACCTGCTGAGCAAGGTCC	0.388000													31	116					0	0	0.050027	0	0
DNAH5	1767	broad.mit.edu	37	5	13864529	13864529	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:13864529G>A	ENST00000265104.4	-	28	4677	c.4573C>T	c.(4573-4575)Ctg>Ttg	p.L1525L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1525	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATATTTCAGAAGAGGTGCC	0.408000									Kartagener syndrome				13	176					0	0	0.105934	0	0
PLK2	10769	broad.mit.edu	37	5	57755707	57755707	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:57755707C>T	ENST00000274289.3	-	1	380	c.80G>A	c.(79-81)gGa>gAa	p.G27E		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	27					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CGAGTCCGCTCCGCAACCCTT	0.682000													4	35					0	0	0.021553	0	0
GNA15	2769	broad.mit.edu	37	19	3148635	3148635	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:3148635C>T	ENST00000262958.3	+	2	450	c.192C>T	c.(190-192)atC>atT	p.I64I	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	64					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGATGCGGATCATCCACGGCG	0.657000													4	8					0	0	0.009096	0	0
DEPDC5	9681	broad.mit.edu	37	22	32210996	32210996	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:32210996G>C	ENST00000400246.1	+	21	1606	c.1464G>C	c.(1462-1464)gaG>gaC	p.E488D	DEPDC5_ENST00000536766.1_Missense_Mutation_p.E460D|DEPDC5_ENST00000400248.1_Missense_Mutation_p.E488D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000382112.3_Missense_Mutation_p.E488D|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E488D|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E488D|DEPDC5_ENST00000382105.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000400242.3_Missense_Mutation_p.E488D			O75140	DEPD5_HUMAN	DEP domain containing 5	488					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAGAGCGAGAGAGTCACAGTC	0.532000													5	169					0	0	0.029380	0	0
NRXN1	9378	broad.mit.edu	37	2	50850564	50850564	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:50850564G>T	ENST00000404971.1	-	7	2460	c.1121C>A	c.(1120-1122)tCt>tAt	p.S374Y	NRXN1_ENST00000406859.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000401669.2_Missense_Mutation_p.S341Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000406316.2_Missense_Mutation_p.S341Y	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	341	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AATGACCAGAGAGACAGCTCC	0.438000													30	146					5.8336e-16	6.29226e-16	0.059317	1	0
FDPS	2224	broad.mit.edu	37	1	155279994	155279994	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155279994G>A	ENST00000356657.6	+	3	499	c.337G>A	c.(337-339)Gag>Aag	p.E113K	FDPS_ENST00000447866.1_Missense_Mutation_p.E47K|RP11-21N7.2_ENST00000429648.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.E113K|FDPS_ENST00000487002.1_3'UTR	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	113					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CCGGCTCAAGGAGGTGAGGGA	0.517000													9	67					0	0	0.047766	0	0
WAPAL	23063	broad.mit.edu	37	10	88260338	88260338	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:88260338G>A	ENST00000298767.5	-	3	1134	c.662C>T	c.(661-663)tCa>tTa	p.S221L		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	221	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCTGATGGTGATTCTGGCCT	0.373000													39	335					0	0	0.092188	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911992	101911992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:101911992C>T	ENST00000537097.1	+	6	3964	c.3151C>T	c.(3151-3153)Cag>Tag	p.Q1051*	GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q1051*|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.Q1051*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q1051*	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1051	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTCACTGTTCAGTTCAAGCC	0.532000													147	243					0	0	0.139131	0	0
CAPS	828	broad.mit.edu	37	19	5914740	5914740	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:5914740C>A	ENST00000588776.1	+	3	2875	c.508C>A	c.(508-510)Cgg>Agg	p.R170R	CAPS_ENST00000222125.5_Silent_p.R84R|CAPS_ENST00000452990.2_Silent_p.R84R			Q13938	CAYP1_HUMAN	calcyphosine	84	EF-hand 4.				intracellular signal transduction	cytoplasm	calcium ion binding			cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						GGAGTTCCTTCGGGCGCTGCG	0.667000													30	109					2.61193e-14	2.80352e-14	0.144211	1	0
CHST5	23563	broad.mit.edu	37	16	75563052	75563052	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:75563052C>G	ENST00000336257.3	-	3	2625	c.1231G>C	c.(1231-1233)Gac>Cac	p.D411H	CHST5_ENST00000541075.1_Missense_Mutation_p.D417H|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	411					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGTTCTCAGTCAGGCGATGCC	0.662000													14	28					0	0	0.146539	0	0
MRC2	9902	broad.mit.edu	37	17	60758228	60758228	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60758228G>A	ENST00000303375.5	+	17	2943	c.2541G>A	c.(2539-2541)gcG>gcA	p.A847A		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	847	C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCACGTGGGCGCAGGCGCAGC	0.667000													3	46					0	0	0.009096	0	0
HAP1	9001	broad.mit.edu	37	17	39881246	39881246	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39881246C>G	ENST00000393939.2	-	10	1501	c.1492G>C	c.(1492-1494)Gag>Cag	p.E498Q	HAP1_ENST00000347901.4_Missense_Mutation_p.E523Q|HAP1_ENST00000341193.5_Missense_Mutation_p.E506Q|HAP1_ENST00000310778.5_Missense_Mutation_p.E575Q|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	558	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCCTTCCTCAGCCGGCACC	0.627000													187	410					0	0	0.139131	0	0
TCEA2	6919	broad.mit.edu	37	20	62701226	62701226	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:62701226C>T	ENST00000395053.3	+	6	724	c.569C>T	c.(568-570)gCt>gTt	p.A190V	TCEA2_ENST00000361317.2_Intron|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Intron			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	0	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AGTCAGGAGGCTGCCTGGCCT	0.652000											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	35					0	0	0.038395	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22447272	22447272	+	RNA	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:22447272G>C	ENST00000390443.3	+	0	473																											TTTTGAGGCTGAATTTAACAA	0.468000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	132					0	0	0.098360	0	0
CCNB3	85417	broad.mit.edu	37	X	50089689	50089689	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:50089689C>T	ENST00000376042.1	+	10	3991	c.3693C>T	c.(3691-3693)atC>atT	p.I1231I	CCNB3_ENST00000276014.7_Silent_p.I1231I|CCNB3_ENST00000348603.2_Silent_p.I127I|CCNB3_ENST00000376038.1_Silent_p.I127I			Q8WWL7	CCNB3_HUMAN	cyclin B3	1231					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTGTGTACATCTGTGATGATA	0.463000													21	189					0	0	0.062417	0	0
COL16A1	1307	broad.mit.edu	37	1	32160810	32160810	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:32160810C>A	ENST00000373672.3	-	11	1474	c.958G>T	c.(958-960)Gtc>Ttc	p.V320F	COL16A1_ENST00000373668.3_Missense_Mutation_p.V320F|COL16A1_ENST00000271069.6_Missense_Mutation_p.V320F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	320	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCACCATGGACACAGGGCGGA	0.627000													12	46					3.07112e-06	3.18728e-06	0.080935	1	0
COL6A1	1291	broad.mit.edu	37	21	47422131	47422131	+	Splice_Site	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:47422131G>C	ENST00000361866.3	+	32	2180		c.e32-1		COL6A1_ENST00000498614.1_Splice_Site	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1						axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TTGCTATGCAGAGCCATCAAG	0.711000													2	13					0	0	0.115264	0	0
BAGE2	85319	broad.mit.edu	37	21	11038916	11038916	+	RNA	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:11038916G>A	ENST00000470054.1	-	0	1287									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGGGAGGAAGACACATCTGC	0.428000													47	412					0	0	0.139131	0	0
SVEP1	79987	broad.mit.edu	37	9	113243615	113243615	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:113243615C>T	ENST00000401783.2	-	12	2608	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	SVEP1_ENST00000374469.1_Missense_Mutation_p.D735N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D758N|SVEP1_ENST00000374461.1_Missense_Mutation_p.D735N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	758	Sushi 4.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTGTGAAATCATAGCCCTCC	0.413000													6	45					0	0	0.021553	0	0
HAP1	9001	broad.mit.edu	37	17	39881154	39881154	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39881154C>T	ENST00000393939.2	-	10	1593	c.1584G>A	c.(1582-1584)atG>atA	p.M528I	HAP1_ENST00000347901.4_Missense_Mutation_p.M553I|HAP1_ENST00000341193.5_Missense_Mutation_p.M536I|HAP1_ENST00000310778.5_Missense_Mutation_p.M605I|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	605	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCACCACGTTCATCCGCGTTG	0.607000													184	319					0	0	0.139131	0	0
RABGAP1	23637	broad.mit.edu	37	9	125772653	125772653	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:125772653G>C	ENST00000373647.4	+	11	1529	c.1395G>C	c.(1393-1395)aaG>aaC	p.K465N		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	465					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GGGAGAGAAAGAATAATACTG	0.318000													33	128					0	0	0.045705	0	0
MED13	9969	broad.mit.edu	37	17	60060429	60060429	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60060429G>C	ENST00000397786.2	-	16	3011	c.2935C>G	c.(2935-2937)Caa>Gaa	p.Q979E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	979					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTATGAGTTTGAGGTGTATAA	0.418000													9	62					0	0	0.069234	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3394440	3394440	+	Splice_Site	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:3394440C>G	ENST00000378378.4	+	11	1880	c.1473_splice	c.e11-1	p.S492_splice	ARHGEF16_ENST00000413250.2_Splice_Site_p.S196_splice|ARHGEF16_ENST00000378373.1_Splice_Site_p.S204_splice|ARHGEF16_ENST00000378371.2_Splice_Site_p.S204_splice	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	492					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCCCCCCAGTCCCTCCCACTG	0.637000													15	79					0	0	0.038395	0	0
RTF1	23168	broad.mit.edu	37	15	41762577	41762577	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:41762577G>T	ENST00000389629.4	+	7	1024	c.1012G>T	c.(1012-1014)Gat>Tat	p.D338Y		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	338	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ATCATCGTCTGATGAAGAAGA	0.443000													41	369					9.39024e-22	1.04362e-21	0.111260	1	0
OR6B3	150681	broad.mit.edu	37	2	240985470	240985470	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:240985470G>T	ENST00000319423.4	-	1	19	c.20C>A	c.(19-21)aCc>aAc	p.T7N		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GCCGACCCTGGTGACATTCTC	0.597000													28	18					2.65835e-16	2.88152e-16	0.125774	1	0
AJAP1	55966	broad.mit.edu	37	1	4772109	4772109	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:4772109C>T	ENST00000378191.4	+	2	560	c.179C>T	c.(178-180)cCg>cTg	p.P60L	AJAP1_ENST00000378190.3_Missense_Mutation_p.P60L|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	60					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.P60L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ccgccccggccgccccggcTG	0.731000													25	75					0	0	0.125774	0	0
ARFIP1	27236	broad.mit.edu	37	4	153784795	153784795	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:153784795C>T	ENST00000451320.2	+	3	295	c.131C>T	c.(130-132)tCa>tTa	p.S44L	ARFIP1_ENST00000353617.2_Missense_Mutation_p.S44L|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000405727.2_Missense_Mutation_p.S44L|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000356064.3_Missense_Mutation_p.S44L			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	44					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CTTGGTCTCTCAGAAACCCAA	0.358000													12	106					0	0	0.093190	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996658	19996658	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:19996658C>T	ENST00000391403.2	-	1	1220	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	373						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CATTTTTCCTCTACTATTAAT	0.368000													17	109					0	0	0.033300	0	0
NUP210L	91181	broad.mit.edu	37	1	153984740	153984740	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:153984740C>T	ENST00000368559.3	-	34	4831	c.4760G>A	c.(4759-4761)aGa>aAa	p.R1587K	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1587K|NUP210L_ENST00000368553.1_Missense_Mutation_p.R520K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1587						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GACACCATTTCTGCCAGTGGT	0.383000													14	172					0	0	0.038395	0	0
BBX	56987	broad.mit.edu	37	3	107491933	107491933	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107491933G>C	ENST00000415149.2	+	11	1692	c.1365G>C	c.(1363-1365)aaG>aaC	p.K455N	BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.K455N|BBX_ENST00000325805.8_Missense_Mutation_p.K455N|BBX_ENST00000406780.1_Missense_Mutation_p.K455N	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	455	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAAAAGAAGAAAAGCAAAA	0.388000													160	77					0	0	0.139131	0	0
SLC10A7	84068	broad.mit.edu	37	4	147431156	147431156	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:147431156G>T	ENST00000432059.2	-	3	475	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	SLC10A7_ENST00000335472.7_Missense_Mutation_p.Q77K|SLC10A7_ENST00000394062.3_Missense_Mutation_p.Q77K|SLC10A7_ENST00000394059.4_Missense_Mutation_p.Q77K|SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000507030.1_Missense_Mutation_p.Q77K|SLC10A7_ENST00000511315.1_5'UTR			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	77						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTAAAGATCTGAATAAAAAGA	0.353000													29	50					1.30897e-18	1.44382e-18	0.144211	1	0
USP3	9960	broad.mit.edu	37	15	63866568	63866568	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:63866568G>T	ENST00000268049.7	+	12	1320	c.996G>T	c.(994-996)aaG>aaT	p.K332N	USP3_ENST00000540797.1_Missense_Mutation_p.K310N|USP3_ENST00000539772.1_Missense_Mutation_p.K105N|USP3_ENST00000558285.1_Missense_Mutation_p.K337N|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000380324.3_Missense_Mutation_p.K354N|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.K265N			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	354					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGCGCTCTAAGAATCAAGAAA	0.323000													4	77					0.00116845	0.00119848	0.021553	1	0
ZZEF1	23140	broad.mit.edu	37	17	4015950	4015950	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4015950A>C	ENST00000381638.2	-	5	1143	c.1019T>G	c.(1018-1020)gTc>gGc	p.V340G	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	340	DOC.						calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATAGCCAGTGACATTGCTGGG	0.512000													31	69					0	0	0.064281	0	0
BBX	56987	broad.mit.edu	37	3	107492191	107492191	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492191G>A	ENST00000415149.2	+	11	1950	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Silent_p.E541E|BBX_ENST00000325805.8_Silent_p.E541E|BBX_ENST00000406780.1_Silent_p.E541E	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	541	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGTCAAAGGAGAAATCCTCAG	0.433000													18	51					0	0	0.139131	0	0
YIPF1	54432	broad.mit.edu	37	1	54332512	54332512	+	Silent	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:54332512T>C	ENST00000072644.1	-	8	903	c.567A>G	c.(565-567)aaA>aaG	p.K189K	YIPF1_ENST00000371399.1_Silent_p.K6K|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Silent_p.K214K	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	189						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TGTTCATAACTTTGCTGTTTC	0.458000													8	82					0	0	0.047766	0	0
CAMK2B	816	broad.mit.edu	37	7	44281890	44281890	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:44281890A>G	ENST00000395749.2	-	10	822	c.746T>C	c.(745-747)aTc>aCc	p.I249T	CAMK2B_ENST00000258682.6_Missense_Mutation_p.I249T|CAMK2B_ENST00000440254.2_Missense_Mutation_p.I249T|CAMK2B_ENST00000395747.2_Missense_Mutation_p.I249T|CAMK2B_ENST00000353625.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000350811.3_Missense_Mutation_p.I249T|CAMK2B_ENST00000347193.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000346990.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000502837.2_Missense_Mutation_p.I120T|CAMK2B_ENST00000358707.3_Missense_Mutation_p.I249T|CAMK2B_ENST00000457475.1_Missense_Mutation_p.I249T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	249	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CATCTGGTTGATGAGGTTTTT	0.627000													45	95					0	0	0.139131	0	0
APPL1	26060	broad.mit.edu	37	3	57291322	57291322	+	Silent	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:57291322A>G	ENST00000288266.3	+	15	1443	c.1296A>G	c.(1294-1296)ggA>ggG	p.G432G		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	432					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GATCCTTAGGATCTGAGTCTA	0.433000													70	41					0	0	0.139131	0	0
ZNF331	55422	broad.mit.edu	37	19	54080952	54080952	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:54080952G>A	ENST00000253144.9	+	7	2471	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ZNF331_ENST00000511154.1_Missense_Mutation_p.E380K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E380K|ZNF331_ENST00000449416.1_Missense_Mutation_p.E380K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E380K|ZNF331_ENST00000512387.1_Missense_Mutation_p.E380K|ZNF331_ENST00000511593.2_Missense_Mutation_p.E380K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CCACACAGGCGAAACCCCGTA	0.498000			T	?	follicular thyroid adenoma								31	56					0	0	0.045705	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306305	133306305	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:133306305C>G	ENST00000539605.1	-	10	8941	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	ANKLE2_ENST00000542282.1_Missense_Mutation_p.E170Q|ANKLE2_ENST00000542657.1_Missense_Mutation_p.E170Q|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000357997.5_Missense_Mutation_p.E815Q			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	815						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGGTGACCTCGAGCTGATCC	0.597000													10	154					0	0	0.080935	0	0
MFSD2A	84879	broad.mit.edu	37	1	40422867	40422867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:40422867C>T	ENST00000372809.5	+	2	345	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Nonsense_Mutation_p.Q68*	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	68					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTTCTTCCTTCAGATCTACCT	0.527000													150	284					0	0	0.139131	0	0
STON2	85439	broad.mit.edu	37	14	81743806	81743806	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:81743806C>T	ENST00000555447.1	-	6	2261	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	STON2_ENST00000267540.2_Missense_Mutation_p.D617N	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	617	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACGAGGATGTCATTGAGGCCC	0.532000													17	142					0	0	0.038395	0	0
PHKG2	5261	broad.mit.edu	37	16	30767526	30767526	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30767526C>G	ENST00000563588.1	+	7	819	c.580C>G	c.(580-582)Cta>Gta	p.L194V	PHKG2_ENST00000424889.3_Missense_Mutation_p.L194V|PHKG2_ENST00000328273.7_Missense_Mutation_p.L194V	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	194	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CCCAGGGTATCTAGCGCCAGA	0.597000													77	183					0	0	0.139131	0	0
CROCCP2	84809	broad.mit.edu	37	1	16960898	16960913	+	RNA	DEL	GTGTGTGTGTGTGTGC	GTGTGTGTGTGTGTGC	-	rs71703041	by1000genomes	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:16960898_16960913delGTGTGTGTGTGTGTGC	ENST00000412962.1	-	0	16																											gtgtgtgtgtgtgtgtgtgtgtgtgcgcgtgtgtgA	0.431													2	4	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													11	68	---	---	---	---					
FNDC7	163479	broad.mit.edu	37	1	109275982	109275990	+	In_Frame_Del	DEL	TTACAGCAC	TTACAGCAC	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:109275982_109275990delTTACAGCAC	ENST00000370017.3	+	10	2245_2253	c.1968_1976delTTACAGCAC	c.(1966-1977)aat>aa	p.NYST656del	FNDC7_ENST00000271311.2_In_Frame_Del_p.NYST657del	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	657	Fibronectin type-III 8.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GCTCTGCCAATTACAGCACTGACCTCTAT	0.531													58	158	---	---	---	---					
KDM5B	10765	broad.mit.edu	37	1	202742383	202742383	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:202742383delA	ENST00000367265.3	-	4	1603	c.439delT	c.(439-441)gcfs	p.C147fs	KDM5B_ENST00000367264.2_Frame_Shift_Del_p.C147fs	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	147	ARID.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTATCCTTGCAAACAACTGCA	0.388													41	87	---	---	---	---					
LRPPRC	10128	broad.mit.edu	37	2	44174430	44174430	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:44174430delA	ENST00000260665.7	-	20	2102	c.2045delT	c.(2044-2046)cafs	p.L682fs		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	682					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAGTTGCTTTAGGACATCTCT	0.299													26	54	---	---	---	---					
ARHGAP15	55843	broad.mit.edu	37	2	144381721	144381727	+	Frame_Shift_Del	DEL	CGACAGC	CGACAGC	-	rs138120208		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:144381721_144381727delCGACAGC	ENST00000295095.6	+	12	1190_1196	c.1023_1029delCGACAGC	c.(1021-1029)gafs	p.DDS341fs		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	341	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGTGGGAGG	0.449													27	47	---	---	---	---					
HSPD1	3329	broad.mit.edu	37	2	198353732	198353732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:198353732delC	ENST00000388968.3	-	9	1476	c.1209delG	c.(1207-1209)gtfs	p.V403fs	HSPD1_ENST00000345042.2_Frame_Shift_Del_p.V403fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	403					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TTACCTTCAGCACAGCCACTC	0.363													51	133	---	---	---	---					
BBX	56987	broad.mit.edu	37	3	107492152	107492152	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492152delG	ENST00000415149.2	+	11	1911	c.1584delG	c.(1582-1584)aafs	p.K530fs	BBX_ENST00000402543.1_Frame_Shift_Del_p.K530fs|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Frame_Shift_Del_p.K530fs|BBX_ENST00000406780.1_Frame_Shift_Del_p.K530fs	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	530	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGCCACCAAAGAAAAAAGTGA	0.448													41	93	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													8	440	---	---	---	---					
CCNG2	901	broad.mit.edu	37	4	78081937	78081939	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:78081937_78081939delGAA	ENST00000316355.5	+	4	696_698	c.340_342delGAA	c.(340-342)del	p.E115del	CCNG2_ENST00000354403.5_In_Frame_Del_p.E115del|CCNG2_ENST00000395640.1_In_Frame_Del_p.E115del|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_In_Frame_Del_p.E115del|CCNG2_ENST00000509972.1_In_Frame_Del_p.E115del	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	115					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGAATAGTTGAAGAAGACTGCA	0.365													71	183	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659	by1000genomes	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:131241029_131241030insGGCGAC	ENST00000541194.1	-	1	346_347	c.89_90insGTCGCC	c.(88-90)ctc>cGTCGCCtc	p.29_30insRR	PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	29					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752													5	8	---	---	---	---					
RP11-10H3.1	0	broad.mit.edu	37	8	50103381	50103382	+	RNA	INS	-	-	CTTT			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:50103381_50103382insCTTT	ENST00000518222.1	+	0	271																											ccccactctccctttctttctt	0.386													2	4	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113697953	113697953	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:113697953delG	ENST00000297405.5	-	15	2408	c.2164delC	c.(2164-2166)tgfs	p.L722fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L682fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L618fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L722fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	722	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTAGACAGGCAGGGAACT	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			108	99	---	---	---	---					
PRUNE2	158471	broad.mit.edu	37	9	79320938	79320939	+	Frame_Shift_Ins	INS	-	-	CCAT			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:79320938_79320939insCCAT	ENST00000428286.1	-	8	6374_6375	c.5174_5175insATGG	c.(5173-5175)ggafs	p.-1724fs	PRUNE2_ENST00000376718.3_Frame_Shift_Ins_p.-2083fs			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGGATTCTCACCATCTGCTTT	0.490													46	261	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													11	54	---	---	---	---					
NRIP3	56675	broad.mit.edu	37	11	9009738	9009744	+	Frame_Shift_Del	DEL	TTCGTCT	TTCGTCT	-	rs150007282		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:9009738_9009744delTTCGTCT	ENST00000309166.3	-	2	373_379	c.260_266delAGACGAA	c.(259-267)acfs	p.KTN87fs	NRIP3_ENST00000531090.1_Frame_Shift_Del_p.KTN87fs	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	87					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ATTGAGTTTGTTCGTCTTAGAGGCCCA	0.483													57	208	---	---	---	---					
RP11-807H22.7	0	broad.mit.edu	37	11	71918385	71918386	+	RNA	INS	-	-	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:71918385_71918386insA	ENST00000378140.3	-	0	195																											aggaaggaaggaaggaaggaag	0.450													2	4	---	---	---	---					
TFCP2	7024	broad.mit.edu	37	12	51504737	51504739	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:51504737_51504739delGAT	ENST00000307660.4	-	5	1205_1207	c.485_487delATC	c.(484-489)gct>g	p.DP162del	TFCP2_ENST00000548115.1_In_Frame_Del_p.DP162del|TFCP2_ENST00000257915.5_In_Frame_Del_p.DP162del|TFCP2_ENST00000549867.1_In_Frame_Del_p.DP162del	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	162	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TTAGCCCTAGGATCGATTATACC	0.409													84	234	---	---	---	---					
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	-	TG	rs142406301	by1000genomes	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:73626918_73626919insTG	ENST00000317905.5	-	12	1745		c.e12-1		RECQL5_ENST00000443199.2_Splice_Site|RECQL5_ENST00000423245.2_Splice_Site	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644								Other identified genes with known or suspected DNA repair function					4	8	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													3	3	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58889874	58889875	+	RNA	INS	-	-	CATT			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:58889874_58889875insCATT	ENST00000432910.1	+	0	332					NR_046099.1																						atccatcctcccatcctcccat	0.545													2	4	---	---	---	---					
