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
COLEC11	78989	broad.mit.edu	37	2	3685151	3685151	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:3685151C>A	ENST00000403096.3	+	3	644	c.153C>A	c.(151-153)ggC>ggA	p.G51G	COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000402794.1_Silent_p.G27G|COLEC11_ENST00000418971.2_Silent_p.G91G|COLEC11_ENST00000402922.1_Intron|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000382062.2_Intron|COLEC11_ENST00000349077.4_Silent_p.G77G|COLEC11_ENST00000236693.7_Silent_p.G74G	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	77						collagen	mannose binding	p.G91G(1)|p.G74G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GACAGAAAGGCAGTGTGGGTC	0.522000													11	82					1.58986e-06	1.94867e-06	0.008291	1	0
KIAA1279	26128	broad.mit.edu	37	10	70776115	70776115	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:70776115G>T	ENST00000361983.4	+	7	1911	c.1809G>T	c.(1807-1809)atG>atT	p.M603I		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	603					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	p.M603I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GTAAAGAGATGGTTAGTCTTC	0.373000													31	72					1.08312e-15	1.63245e-15	0.009535	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113518009	113518009	+	Silent	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:113518009A>G	ENST00000284601.3	-	4	3206	c.3138T>C	c.(3136-3138)tcT>tcC	p.S1046S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1046					glycogen metabolic process	integral to membrane		p.S1046S(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAGAGCTGTCAGATTCCTTTT	0.378000													8	391					0	0	0.004482	0	0
WWC2	80014	broad.mit.edu	37	4	184205516	184205516	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:184205516A>T	ENST00000403733.3	+	19	3220	c.3021A>T	c.(3019-3021)ccA>ccT	p.P1007P	WWC2_ENST00000508747.1_Silent_p.P135P|WWC2_ENST00000513834.1_Silent_p.P958P|WWC2_ENST00000504005.1_Silent_p.P689P|WWC2_ENST00000448232.2_Silent_p.P1031P	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1007								p.P1007P(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCTTTTCTCCAGGAGAGCGGA	0.572000													15	103					0	0	0.006122	0	0
DST	667	broad.mit.edu	37	6	56417220	56417220	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:56417220G>A	ENST00000370754.5	-	61	16276	c.16277C>T	c.(16276-16278)cCt>cTt	p.P5426L	DST_ENST00000361203.3_Missense_Mutation_p.P5246L|DST_ENST00000370769.4_Missense_Mutation_p.P5248L|DST_ENST00000244364.6_Missense_Mutation_p.P2834L|DST_ENST00000421834.2_Missense_Mutation_p.P3160L|DST_ENST00000370788.2_Missense_Mutation_p.P3160L|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.P4922L			Q03001	DYST_HUMAN	dystonin	5246					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	p.P5248L(1)|p.P2834L(1)		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)			AACAAGGTCAGGAGAGGTTTC	0.448000													13	70					0	0	0.004990	0	0
TLR4	7099	broad.mit.edu	37	9	120476829	120476829	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:120476829G>T	ENST00000355622.6	+	3	2524	c.2423G>T	c.(2422-2424)tGg>tTg	p.W808L	TLR4_ENST00000394487.4_Missense_Mutation_p.W768L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	808	TIR.				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	p.W808F(1)		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						CACATCTTCTGGAGACGACTC	0.537000													15	155					4.7546e-09	6.24042e-09	0.004007	1	0
TBX5	6910	broad.mit.edu	37	12	114841688	114841688	+	Nonsense_Mutation	SNP	C	C	A	rs145365553		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:114841688C>A	ENST00000310346.4	-	2	682	c.16G>T	c.(16-18)Gag>Tag	p.E6*	TBX5_ENST00000405440.2_Nonsense_Mutation_p.E6*|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Nonsense_Mutation_p.E6*|TBX5_ENST00000349716.5_Intron	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	6					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E6*(2)|p.E6K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCAAAGCCCTCGTCTGCGTCG	0.677000													8	27					3.86212e-05	4.53943e-05	0.008291	1	0
C7orf62	219557	broad.mit.edu	37	7	88423561	88423561	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:88423561C>A	ENST00000297203.2	-	2	881	c.696G>T	c.(694-696)atG>atT	p.M232I	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	232								p.M232I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTCTATTATACATGTTTATAA	0.433000													21	54					4.63292e-17	7.11888e-17	0.008871	1	0
CACNA1S	779	broad.mit.edu	37	1	201030557	201030557	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:201030557C>T	ENST00000362061.3	-	25	3319	c.3093G>A	c.(3091-3093)gtG>gtA	p.V1031V	CACNA1S_ENST00000367338.3_Silent_p.V1031V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1031	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.V1031V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGGGACCCACGTCCTCCG	0.532000													4	93					0	0	0.009096	0	0
UNC5A	90249	broad.mit.edu	37	5	176295144	176295144	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:176295144G>T	ENST00000329542.4	+	3	580	c.306G>T	c.(304-306)atG>atT	p.M102I	UNC5A_ENST00000261961.3_Missense_Mutation_p.M62I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	102	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.M102I(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCCACCATGGAGGTCCGCA	0.647000													45	130					1.86633e-21	3.07798e-21	0.003610	1	0
MMP17	4326	broad.mit.edu	37	12	132325241	132325241	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:132325241C>A	ENST00000360564.1	+	4	648	c.546C>A	c.(544-546)gcC>gcA	p.A182A	MMP17_ENST00000535291.1_Silent_p.A98A	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	182				A -> T (in Ref. 1; BAA82707 and 2; CAA61753).	proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.A182A(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CGGGCAGCGCCGCCGACATCC	0.672000													20	82					7.88262e-20	1.25405e-19	0.003330	1	0
MRPL37	51253	broad.mit.edu	37	1	54665932	54665932	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:54665932G>C	ENST00000605337.1	+	1	64	c.16G>C	c.(16-18)Ggg>Cgg	p.G6R	MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000360840.5_Missense_Mutation_p.G6R|MRPL37_ENST00000336230.6_5'UTR			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	6					translation	mitochondrial ribosome	structural constituent of ribosome	p.G6R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ATTGGCGTCCGGGCCCGCAAG	0.716000													21	138					0	0	0.002780	0	0
ZNF23	7571	broad.mit.edu	37	16	71482826	71482826	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr16:71482826C>T	ENST00000393539.2	-	6	1915	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	ZNF23_ENST00000357254.4_Missense_Mutation_p.E368K|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.E310K|ZNF23_ENST00000417828.1_Missense_Mutation_p.E368K|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.E310K|RP11-510M2.10_ENST00000576258.1_RNA	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E368K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTTCCACACTCTTTACACTGA	0.428000													26	48					0	0	0.007291	0	0
RHCG	51458	broad.mit.edu	37	15	90020439	90020439	+	Splice_Site	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:90020439T>A	ENST00000268122.4	-	8	1181		c.e8-2		RHCG_ENST00000544600.1_Splice_Site	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein						amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGGACAAGCCTGGGGTGGAGA	0.567000													7	106					0	0	0.004482	0	0
ADAM19	8728	broad.mit.edu	37	5	156932741	156932741	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:156932741C>A	ENST00000257527.4	-	11	1144	c.1066G>T	c.(1066-1068)Gat>Tat	p.D356Y	ADAM19_ENST00000430702.2_Missense_Mutation_p.D89Y|ADAM19_ENST00000517905.1_Missense_Mutation_p.D356Y|ADAM19_ENST00000394020.1_Missense_Mutation_p.D358Y	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	356	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.D357Y(1)|p.D356Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTGCAGAATCATGGGTCATG	0.592000													15	17					3.41278e-10	4.71503e-10	0.004990	1	0
RIMS2	9699	broad.mit.edu	37	8	104897845	104897845	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:104897845G>T	ENST00000507740.1	+	2	678	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S	RIMS2_ENST00000406091.3_Missense_Mutation_p.A340S|RIMS2_ENST00000436393.2_Missense_Mutation_p.A118S|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.A148S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	371	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.A148S(2)|p.A376S(1)|p.A118S(1)|p.A340S(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCCGAATTTGGCCCGTTATCC	0.458000										HNSCC(12;0.0054)			22	30					6.44725e-10	8.64206e-10	0.002299	1	0
TMEM74B	55321	broad.mit.edu	37	20	1162053	1162053	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:1162053C>T	ENST00000381894.3	-	2	881	c.210G>A	c.(208-210)gaG>gaA	p.E70E	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	70						integral to membrane	protein binding	p.E70E(1)									GGAAATGGGTCTCATGCTCCT	0.637000													9	67					0	0	0.004482	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135102477	135102477	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:135102477G>A	ENST00000368563.2	-	10	1764	c.1408C>T	c.(1408-1410)Ccg>Tcg	p.P470S	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.P498S|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.P470S|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.P63S|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.P340S	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	470					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	p.P470S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TTAGCCACCGGGCAGGTGACG	0.478000													32	110					0	0	0.005524	0	0
F5	2153	broad.mit.edu	37	1	169511405	169511405	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:169511405G>T	ENST00000367796.3	-	13	3139	c.2938C>A	c.(2938-2940)Ccc>Acc	p.P980T	F5_ENST00000367797.3_Missense_Mutation_p.P975T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	975	B.		R -> L (in dbSNP:rs9332605).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.P975T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCATTCTGGGGGCTGATCAGC	0.468000													24	244					4.26978e-12	6.14146e-12	0.003330	1	0
CSMD1	64478	broad.mit.edu	37	8	3072116	3072116	+	Nonsense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:3072116A>T	ENST00000520002.1	-	31	5328	c.4773T>A	c.(4771-4773)tgT>tgA	p.C1591*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.C1591*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.C1590*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.C1590*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.C1590*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.C1591*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.C1591*|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1591	Sushi 9.					integral to membrane		p.C1590*(1)|p.C1319*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCCAGAGTCACACTGGTAGG	0.507000													3	2					0	0	0.004672	0	0
NAT16	375607	broad.mit.edu	37	7	100816680	100816680	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:100816680T>A	ENST00000300303.2	-	3	672	c.434A>T	c.(433-435)cAg>cTg	p.Q145L	NAT16_ENST00000455377.1_Missense_Mutation_p.Q145L	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	145	N-acetyltransferase.						N-acetyltransferase activity	p.Q145L(1)									CTTGACCAGCTGCGAGCAGAA	0.701000													13	39					0	0	0.004990	0	0
TXLNB	167838	broad.mit.edu	37	6	139609688	139609688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:139609688C>A	ENST00000358430.3	-	2	581	c.349G>T	c.(349-351)Gga>Tga	p.G117*		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	117						cytoplasm		p.G117*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GGTGGCTCTCCAGAAGCAACG	0.473000													46	123					1.33152e-38	2.51155e-38	0.003610	1	0
OR2T33	391195	broad.mit.edu	37	1	248436623	248436623	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:248436623G>T	ENST00000318021.2	-	1	515	c.494C>A	c.(493-495)cCa>cAa	p.P165Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P165Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCACAATATGGGAAGCTCAG	0.562000													10	87					1.49906e-05	1.78865e-05	0.002450	1	0
PCDHB1	29930	broad.mit.edu	37	5	140433455	140433455	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:140433455T>A	ENST00000306549.3	+	1	2477	c.2400T>A	c.(2398-2400)gaT>gaA	p.D800E		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		800					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D800E(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAATTCTGATAGGAATAAGT	0.438000													40	116					0	0	0.009718	0	0
CFB	629	broad.mit.edu	37	6	31917095	31917095	+	Missense_Mutation	SNP	G	G	A	rs150398964		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:31917095G>A	ENST00000456570.1	+	21	2805	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000425368.2_Missense_Mutation_p.R415H|CFB_ENST00000556679.1_Missense_Mutation_p.R917H			P00751	CFAB_HUMAN	complement factor B	415					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.R415H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCAAGGATCGCAAAAACCCA	0.522000													4	68					0	0	0.009096	0	0
HABP2	3026	broad.mit.edu	37	10	115345649	115345649	+	Missense_Mutation	SNP	T	T	A	rs148362361	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:115345649T>A	ENST00000351270.3	+	12	1566	c.1470T>A	c.(1468-1470)agT>agA	p.S490R	HABP2_ENST00000542051.1_Missense_Mutation_p.S464R	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	490	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	p.S490R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TTGATGACAGTATGATCTGTG	0.512000													27	56					0	0	0.005443	0	0
EPG5	57724	broad.mit.edu	37	18	43460143	43460143	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr18:43460143A>T	ENST00000282041.5	-	32	5598	c.5564T>A	c.(5563-5565)cTg>cAg	p.L1855Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1855					autophagy			p.L1855Q(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAGGGCTCTCAGAGTGGCCTT	0.622000											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	37					0	0	0.006214	0	0
TTF2	8458	broad.mit.edu	37	1	117632685	117632685	+	Missense_Mutation	SNP	G	G	T	rs145353452		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:117632685G>T	ENST00000369466.3	+	14	2395	c.2351G>T	c.(2350-2352)cGt>cTt	p.R784L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	784	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	p.R784L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGGTTTCTCCGTTGCTCTCCA	0.408000													26	140					2.65835e-16	4.04531e-16	0.007291	1	0
TLR4	7099	broad.mit.edu	37	9	120476830	120476830	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:120476830G>T	ENST00000355622.6	+	3	2525	c.2424G>T	c.(2422-2424)tgG>tgT	p.W808C	TLR4_ENST00000394487.4_Missense_Mutation_p.W768C|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	808	TIR.				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	p.W808F(1)		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						ACATCTTCTGGAGACGACTCA	0.537000													14	156					1.5739e-10	2.19371e-10	0.004007	1	0
HNRNPR	10236	broad.mit.edu	37	1	23667394	23667394	+	Silent	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:23667394T>A	ENST00000374612.1	-	2	231	c.108A>T	c.(106-108)gcA>gcT	p.A36A	HNRNPR_ENST00000374616.3_Silent_p.A36A|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000478691.1_Intron|HNRNPR_ENST00000606561.1_Intron|HNRNPR_ENST00000427764.2_Silent_p.A36A|HNRNPR_ENST00000302271.6_Silent_p.A36A	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	36	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.A36A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTGGGAGGCCTGCCTCTATCA	0.418000													66	140					0	0	0.003610	0	0
IGLV3-1	28809	broad.mit.edu	37	22	23223292	23223292	+	RNA	SNP	A	A	G	rs145382269	by1000genomes	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr22:23223292A>G	ENST00000390319.2	+	0	114																											GTGGCCTCCTATGAGCTGACT	0.527000													9	55					0	0	0.004482	0	0
TTBK1	84630	broad.mit.edu	37	6	43251119	43251119	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:43251119G>T	ENST00000259750.4	+	14	2724	c.2641G>T	c.(2641-2643)Gta>Tta	p.V881L		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	881						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.V881L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAGCTGGACGTATCTGAGCC	0.721000													3	14					0.00024832	0.000283409	0.009096	1	0
ZFP42	132625	broad.mit.edu	37	4	188924086	188924086	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:188924086C>A	ENST00000326866.4	+	4	533	c.125C>A	c.(124-126)cCt>cAt	p.P42H	ZFP42_ENST00000509524.1_Missense_Mutation_p.P42H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	42					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P42H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAATAGAACCTGTCAGCGCG	0.562000													11	59					5.50884e-06	6.6486e-06	0.001368	1	0
SV2B	9899	broad.mit.edu	37	15	91835612	91835612	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:91835612G>T	ENST00000394232.1	+	13	2352	c.1882G>T	c.(1882-1884)Ggc>Tgc	p.G628C	SV2B_ENST00000330276.4_Missense_Mutation_p.G628C|SV2B_ENST00000545111.2_Missense_Mutation_p.G477C	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	628					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.G628C(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AACAGCCTTCGGCATTCTCAA	0.448000													38	87					7.05121e-23	1.18777e-22	0.010771	1	0
OR2M3	127062	broad.mit.edu	37	1	248366604	248366604	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:248366604C>A	ENST00000456743.1	+	1	273	c.235C>A	c.(235-237)Ccc>Acc	p.P79T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79T(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACCACCGTACCCAAGATGGC	0.527000													200	413					3.74347e-84	7.1902e-84	0.003610	1	0
NLRP7	199713	broad.mit.edu	37	19	55450436	55450436	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:55450436G>A	ENST00000446217.1	-	6	2237	c.1835C>T	c.(1834-1836)gCg>gTg	p.A612V	NLRP7_ENST00000340844.2_Missense_Mutation_p.A584V|NLRP7_ENST00000328092.5_Missense_Mutation_p.A584V|NLRP7_ENST00000592784.1_Missense_Mutation_p.A584V|NLRP7_ENST00000590030.1_Missense_Mutation_p.A584V|NLRP7_ENST00000588756.1_Missense_Mutation_p.A584V|NLRP7_ENST00000448121.2_Missense_Mutation_p.A584V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	584							ATP binding	p.A584V(3)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CACCACCTTCGCCAGCTCCTC	0.493000													6	62					0	0	0.003080	0	0
CYTIP	9595	broad.mit.edu	37	2	158272582	158272582	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:158272582C>A	ENST00000264192.3	-	8	808	c.687G>T	c.(685-687)ggG>ggT	p.G229G	CYTIP_ENST00000540637.1_Silent_p.G123G	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	229					regulation of cell adhesion	cell cortex|early endosome	protein binding	p.G229G(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTGGGCCTGGCCCAGGCAGGG	0.512000													21	68					1.96895e-08	2.55234e-08	0.002780	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	82					0	0	0.009096	0	0
LAMC1	3915	broad.mit.edu	37	1	183091040	183091040	+	Missense_Mutation	SNP	G	G	T	rs147401305	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:183091040G>T	ENST00000258341.4	+	12	2430	c.2173G>T	c.(2173-2175)Gcc>Tcc	p.A725S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	725	Laminin EGF-like 6.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.A725S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCTTTGCGCCTGCAATGG	0.478000													27	38					2.12542e-12	3.07113e-12	0.006320	1	0
ANO3	63982	broad.mit.edu	37	11	26677674	26677674	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:26677674G>T	ENST00000256737.3	+	25	3431	c.2579G>T	c.(2578-2580)tGc>tTc	p.C860F	ANO3_ENST00000531568.1_Missense_Mutation_p.C714F|ANO3_ENST00000525139.1_Missense_Mutation_p.C844F|ANO3_ENST00000537978.1_Missense_Mutation_p.C844F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	860						chloride channel complex	chloride channel activity	p.C860F(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCTCCCAGTTGCTTGAAGGGA	0.328000													29	78					8.4185e-14	1.2277e-13	0.012213	1	0
EIF4B	1975	broad.mit.edu	37	12	53427638	53427638	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:53427638A>G	ENST00000262056.9	+	9	1354	c.1028A>G	c.(1027-1029)aAg>aGg	p.K343R	EIF4B_ENST00000416762.3_Missense_Mutation_p.K304R|EIF4B_ENST00000420463.3_Missense_Mutation_p.K343R|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	343				K -> E (in Ref. 1; CAA39265).	insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	p.K343R(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						AGTACTCCTAAGGAAGATGAT	0.453000													19	34					0	0	0.001882	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237849	132237849	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:132237849C>A	ENST00000321253.6	+	4	690	c.583C>A	c.(583-585)Ctg>Atg	p.L195M	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	195					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.L195M(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCACACGACCCTGGAACATTC	0.547000													18	242					3.33393e-15	4.93047e-15	0.004878	1	0
TRIO	7204	broad.mit.edu	37	5	14331010	14331010	+	Splice_Site	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:14331010G>T	ENST00000344204.4	+	10	1878		c.e10+1		TRIO_ENST00000509967.2_Splice_Site|TRIO_ENST00000537187.1_Splice_Site	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.?(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGTGGCACAGGTAAAACAATG	0.398000													48	196					9.72345e-25	1.66461e-24	0.003610	1	0
POU1F1	5449	broad.mit.edu	37	3	87309058	87309058	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:87309058G>T	ENST00000350375.2	-	6	986	c.862C>A	c.(862-864)Ctt>Att	p.L288I	POU1F1_ENST00000560656.1_3'UTR|POU1F1_ENST00000344265.3_Missense_Mutation_p.L314I	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	288					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L314I(1)|p.L288I(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		CTGCACTCAAGATGTTCCTTA	0.348000													25	76					9.90768e-06	1.19119e-05	0.004656	1	0
WISP1	8840	broad.mit.edu	37	8	134232987	134232987	+	Silent	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:134232987G>T	ENST00000250160.6	+	3	619	c.513G>T	c.(511-513)cgG>cgT	p.R171R	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	171	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	p.R171R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCACCCGCGGCGCGTGAGCA	0.667000													18	64					1.2644e-06	1.56191e-06	0.010504	1	0
MYH6	4624	broad.mit.edu	37	14	23855623	23855623	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:23855623C>A	ENST00000405093.3	-	33	4930	c.4860G>T	c.(4858-4860)atG>atT	p.M1620I	MYH6_ENST00000356287.3_Missense_Mutation_p.M1620I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1620					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.M1620I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTCTCCTTCCATCTTCTTCT	0.607000													43	144					3.05275e-18	4.80808e-18	0.003214	1	0
RTTN	25914	broad.mit.edu	37	18	67860546	67860546	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr18:67860546C>A	ENST00000255674.6	-	8	1271	c.985G>T	c.(985-987)Gac>Tac	p.D329Y	RTTN_ENST00000454359.1_Missense_Mutation_p.D329Y|RTTN_ENST00000437017.1_Missense_Mutation_p.D329Y	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	329							binding	p.D329Y(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCATCCCAGTCCTGGCCATCT	0.537000													23	65					2.39556e-15	3.57632e-15	0.002780	1	0
PCDHA5	56143	broad.mit.edu	37	5	140203040	140203040	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:140203040C>A	ENST00000529859.1	+	1	1680	c.1680C>A	c.(1678-1680)aaC>aaA	p.N560K	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.N560K|PCDHA5_ENST00000529619.1_Missense_Mutation_p.N560K|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1												p.N560K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCGGCGC	0.711000													48	95					1.27862e-28	2.28844e-28	0.003610	1	0
CHD8	57680	broad.mit.edu	37	14	21896230	21896230	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:21896230C>T	ENST00000399982.2	-	3	1463	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CHD8_ENST00000430710.3_Missense_Mutation_p.E188K|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.E467K	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	467					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.E467K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCAATGGCCTCTGCTACAATC	0.547000													32	217					0	0	0.012213	0	0
HBD	3045	broad.mit.edu	37	11	5255339	5255339	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:5255339T>C	ENST00000380299.3	-	2	411	c.197A>G	c.(196-198)aAg>aGg	p.K66R	HBD_ENST00000292901.3_Missense_Mutation_p.K66R	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	66					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.K66R(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGCACCTTCTTGCCATGAGC	0.542000													37	71					0	0	0.003610	0	0
UBAP2L	9898	broad.mit.edu	37	1	154241426	154241426	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:154241426G>T	ENST00000428931.1	+	26	3331	c.3164G>T	c.(3163-3165)gGc>gTc	p.G1055V	UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000271877.7_Missense_Mutation_p.G1065V|UBAP2L_ENST00000361546.2_Missense_Mutation_p.G1055V	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	1055					binding of sperm to zona pellucida		protein binding	p.G551V(1)|p.G1055V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCAGGATGGCCAGGTAATA	0.547000													23	142					9.57634e-11	1.34069e-10	0.003330	1	0
OR2T12	127064	broad.mit.edu	37	1	248458171	248458171	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:248458171G>T	ENST00000317996.1	-	1	709	c.710C>A	c.(709-711)gCc>gAc	p.A237D		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237D(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGAGCAGGTGGCAAAGGCCTT	0.522000													29	74					1.56442e-22	2.60736e-22	0.012213	1	0
EPHA6	285220	broad.mit.edu	37	3	97454809	97454809	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:97454809C>T	ENST00000389672.5	+	16	3013	c.2975C>T	c.(2974-2976)cCc>cTc	p.P992L		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	897	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.P898L(1)|p.P992L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTTCCAGCTCCCATGGGCTGT	0.423000													30	44					0	0	0.003271	0	0
PRKDC	5591	broad.mit.edu	37	8	48762047	48762047	+	Silent	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:48762047C>G	ENST00000314191.2	-	54	7076	c.7020G>C	c.(7018-7020)ctG>ctC	p.L2340L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L2340L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2341					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.L2340L(1)|p.L2341L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCAGTTCACACAGAGACTCCT	0.358000								Non-homologous end-joining					10	98					0	0	0.008291	0	0
ABCG4	64137	broad.mit.edu	37	11	119024853	119024853	+	Splice_Site	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:119024853G>A	ENST00000307417.3	+	3	720	c.356_splice	c.e3+1	p.R119_splice	ABCG4_ENST00000449422.2_Splice_Site_p.R119_splice|ABCG4_ENST00000531739.1_Splice_Site_p.R119_splice	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	119	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.R119K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCAGGATACAGGTAAGGAAGA	0.532000													23	91					0	0	0.006320	0	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000													3	60					0	0	0.001168	0	0
MS4A12	54860	broad.mit.edu	37	11	60274525	60274525	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:60274525C>A	ENST00000016913.4	+	7	789	c.732C>A	c.(730-732)agC>agA	p.S244R	MS4A12_ENST00000537076.1_Missense_Mutation_p.S198R	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	244						integral to membrane	receptor activity	p.S244R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGTATGAAAGCAACCCTGTGA	0.408000													20	113					9.86323e-18	1.5305e-17	0.003954	1	0
ADCY8	114	broad.mit.edu	37	8	131916288	131916288	+	Splice_Site	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:131916288C>T	ENST00000286355.5	-	7	3733	c.1640_splice	c.e7-1	p.G547_splice	ADCY8_ENST00000377928.3_Splice_Site_p.G547_splice	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	547					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G547G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGTGAATCCTCCTGTGTGTAG	0.458000										HNSCC(32;0.087)			78	213					0	0	0.003610	0	0
ATF7IP	55729	broad.mit.edu	37	12	14634051	14634051	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:14634051C>T	ENST00000544627.1	+	13	3556	c.3236C>T	c.(3235-3237)cCa>cTa	p.P1079L	ATF7IP_ENST00000261168.4_Missense_Mutation_p.P1071L|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P1070L|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P1071L|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P1070L			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1071					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	p.P1071L(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CCTGCACCACCAGCTCAGGCT	0.493000													31	109					0	0	0.008361	0	0
CLUL1	27098	broad.mit.edu	37	18	627315	627315	+	Missense_Mutation	SNP	A	A	T	rs115407065	by1000genomes	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr18:627315A>T	ENST00000581619.1	+	5	1564	c.717A>T	c.(715-717)caA>caT	p.Q239H	CLUL1_ENST00000338387.7_Missense_Mutation_p.Q214H|CLUL1_ENST00000400606.2_Missense_Mutation_p.Q214H|CLUL1_ENST00000540035.1_Missense_Mutation_p.Q266H|CLUL1_ENST00000579494.1_Missense_Mutation_p.Q214H			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	214					cell death	extracellular region		p.Q214H(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGACTTTTCAATCACATTTCA	0.408000													83	266					0	0	0.003610	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725452	26725452	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:26725452C>A	ENST00000396005.3	-	5	877	c.568G>T	c.(568-570)Gtt>Ttt	p.V190F	SLC5A12_ENST00000280467.6_Missense_Mutation_p.V190F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	190					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.V190F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCATGACAACCATCTGAAAT	0.423000													26	236					5.49717e-05	6.4372e-05	0.003330	1	0
TNR	7143	broad.mit.edu	37	1	175304875	175304875	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:175304875G>A	ENST00000367674.1	-	20	4311	c.3603C>T	c.(3601-3603)ttC>ttT	p.F1201F	TNR_ENST00000263525.2_Silent_p.F1201F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1201	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.F1201F(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCACGTTCCCGAAGCCAACAC	0.443000													52	176					0	0	0.003610	0	0
WDR12	55759	broad.mit.edu	37	2	203764280	203764280	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:203764280G>A	ENST00000261015.3	-	4	1061	c.312C>T	c.(310-312)atC>atT	p.I104I	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	104	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	p.I104I(1)		endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TAATTGAACTGATCCAGTCAT	0.388000													6	129					0	0	0.001168	0	0
CCDC61	729440	broad.mit.edu	37	19	46521386	46521386	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:46521386C>T	ENST00000263284.2	+	14	1476	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	CCDC61_ENST00000595358.1_Silent_p.S473S|CCDC61_ENST00000594087.1_Silent_p.S293S|CCDC61_ENST00000536603.1_Silent_p.S293S					coiled-coil domain containing 61									p.S492S(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		TGGCCAACTCCGGGGGCTGGG	0.612000													4	18					0	0	0.000602	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263146	140263146	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:140263146C>A	ENST00000289272.2	+	1	1293	c.1293C>A	c.(1291-1293)ggC>ggA	p.G431G	PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.G431G|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.G431G(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACGGGGGCTCGCCTTCGC	0.652000													30	110					2.19962e-31	3.95932e-31	0.008740	1	0
SLC6A2	6530	broad.mit.edu	37	16	55719131	55719131	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr16:55719131C>A	ENST00000379906.2	+	4	976	c.721C>A	c.(721-723)Ctg>Atg	p.L241M	SLC6A2_ENST00000567238.1_Missense_Mutation_p.L136M|SLC6A2_ENST00000219833.8_Missense_Mutation_p.L241M|SLC6A2_ENST00000568943.1_Missense_Mutation_p.L241M|SLC6A2_ENST00000414754.3_Missense_Mutation_p.L241M|SLC6A2_ENST00000566163.1_Missense_Mutation_p.L241M|SLC6A2_ENST00000561820.1_Missense_Mutation_p.L241M	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	241					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	p.L241M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTGCTCTGTCTGATGGTCGT	0.537000													9	41					6.40141e-05	7.46831e-05	0.010729	1	0
TEX33	339669	broad.mit.edu	37	22	37387601	37387601	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr22:37387601C>A	ENST00000405091.2	-	6	917	c.666G>T	c.(664-666)aaG>aaT	p.K222N	TEX33_ENST00000381821.1_Missense_Mutation_p.K222N|TEX33_ENST00000402860.3_Missense_Mutation_p.K137N			O43247	EAN57_HUMAN	testis expressed 33	222								p.K137N(1)									TGTAAGAAGCCTTCATGAGGC	0.507000													27	178					4.31634e-10	5.88591e-10	0.012213	1	0
TLR4	7099	broad.mit.edu	37	9	120476416	120476416	+	Silent	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:120476416T>A	ENST00000355622.6	+	3	2111	c.2010T>A	c.(2008-2010)ggT>ggA	p.G670G	TLR4_ENST00000394487.4_Silent_p.G630G|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	670					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	p.G670G(2)		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						ATGGTAGAGGTGAAAACATCT	0.428000													10	68					0	0	0.008291	0	0
C10orf76	79591	broad.mit.edu	37	10	103761774	103761774	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:103761774C>A	ENST00000370033.4	-	15	1223	c.1104G>T	c.(1102-1104)ctG>ctT	p.L368L		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	368						integral to membrane		p.L368L(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAAAGGTTATCAGTAGATTAC	0.423000													42	175					1.23713e-20	1.98824e-20	0.003610	1	0
MED13L	23389	broad.mit.edu	37	12	116421007	116421007	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:116421007C>A	ENST00000281928.3	-	21	5076	c.4870G>T	c.(4870-4872)Gat>Tat	p.D1624Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1624					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.D1624Y(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGCGTTCTATCCGCAGAAATG	0.527000													31	65					3.33393e-15	4.93047e-15	0.004878	1	0
HRNR	388697	broad.mit.edu	37	1	152188193	152188193	+	Nonsense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:152188193G>C	ENST00000368801.2	-	3	5987	c.5912C>G	c.(5911-5913)tCa>tGa	p.S1971*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1971					keratinization		calcium ion binding|protein binding	p.S1971*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCACCCTGAGCCAGACCC	0.607000													18	973					0	0	0.001855	0	0
MACROD1	28992	broad.mit.edu	37	11	63918756	63918756	+	Missense_Mutation	SNP	G	G	A	rs143192829		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:63918756G>A	ENST00000255681.6	-	3	538	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	158	Macro.							p.R158C(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						ATGTCGCTGCGGAGCAGGGAG	0.602000													14	75					0	0	0.002450	0	0
GCM1	8521	broad.mit.edu	37	6	52998877	52998877	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:52998877C>G	ENST00000259803.7	-	3	532	c.321G>C	c.(319-321)aaG>aaC	p.K107N		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	107						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.K107N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CACGCTGCTGCTTCTGCCGGG	0.622000													14	28					0	0	0.006122	0	0
XPOT	11260	broad.mit.edu	37	12	64814179	64814179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:64814179G>T	ENST00000332707.5	+	8	1250	c.721G>T	c.(721-723)Gaa>Taa	p.E241*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	241	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.E241*(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGTTCTACGGGAAGAAGCATG	0.333000													26	90					4.22769e-11	6.0259e-11	0.006320	1	0
OR4A15	81328	broad.mit.edu	37	11	55135855	55135855	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:55135855C>T	ENST00000314706.3	+	1	496	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R166C(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CACCATGAATCGTCGAGTCTG	0.438000													105	329					0	0	0.003610	0	0
KCNQ2	3785	broad.mit.edu	37	20	62076647	62076647	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:62076647C>A	ENST00000354587.3	-	3	634	c.458G>T	c.(457-459)cGg>cTg	p.R153L	KCNQ2_ENST00000359125.2_Missense_Mutation_p.R153L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R153L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R153L|KCNQ2_ENST00000344462.3_Missense_Mutation_p.R153L|KCNQ2_ENST00000430658.1_Missense_Mutation_p.R153L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.R153L|KCNQ2_ENST00000370221.1_Missense_Mutation_p.R153L|KCNQ2_ENST00000344425.5_Missense_Mutation_p.R153L|KCNQ2_ENST00000370222.3_Missense_Mutation_p.R153L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R153L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R153L			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	153					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R153L(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCCACGGTACCGGCAGCAGCA	0.612000													8	16					6.31663e-08	7.99091e-08	0.003163	1	0
GCC2	9648	broad.mit.edu	37	2	109086113	109086113	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:109086113G>T	ENST00000309863.6	+	6	1042	c.328G>T	c.(328-330)Gta>Tta	p.V110L	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	110					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.V110L(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATAGGATTCTGTAACAAAGAT	0.328000													12	69					0.00185496	0.00207203	0.001855	1	0
DNAJB4	11080	broad.mit.edu	37	1	78479142	78479142	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:78479142G>C	ENST00000370763.5	+	2	876	c.619G>C	c.(619-621)Ggg>Cgg	p.G207R	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	207					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	p.G207R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GATTAAAAAAGGGTGGAAAGA	0.363000													22	88					0	0	0.001882	0	0
PLD4	122618	broad.mit.edu	37	14	105395257	105395257	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:105395257G>A	ENST00000540372.1	+	4	669	c.477G>A	c.(475-477)tcG>tcA	p.S159S	PLD4_ENST00000392593.4_Silent_p.S152S			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	152					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	p.S135S(1)|p.S152S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	TCAACGACTCGTCTTCCCAGC	0.652000													15	52					0	0	0.006122	0	0
OFD1	8481	broad.mit.edu	37	X	13753440	13753440	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chrX:13753440A>G	ENST00000340096.6	+	2	413	c.86A>G	c.(85-87)gAt>gGt	p.D29G	OFD1_ENST00000380550.3_Missense_Mutation_p.D29G|OFD1_ENST00000380567.1_5'UTR|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Missense_Mutation_p.D29G	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	29					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	p.D29G(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACGTTTAAGGATCGGGGTATA	0.403000													40	34					0	0	0.003214	0	0
NCAPH2	29781	broad.mit.edu	37	22	50960275	50960275	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr22:50960275C>T	ENST00000395701.3	+	12	1200	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V	NCAPH2_ENST00000420993.2_Missense_Mutation_p.A369V|NCAPH2_ENST00000299821.11_Missense_Mutation_p.A369V|NCAPH2_ENST00000520297.1_3'UTR			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	369					chromosome condensation	chromosome|nucleus		p.A369V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TACCTGGCTGCCTGTGAGTGG	0.642000													12	50					0	0	0.010729	0	0
ESRRB	2103	broad.mit.edu	37	14	76948374	76948374	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:76948374G>T	ENST00000380887.2	+	4	602	c.530G>T	c.(529-531)cGa>cTa	p.R177L	ESRRB_ENST00000509242.1_Missense_Mutation_p.R177L|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.R177L|ESRRB_ENST00000556177.1_Missense_Mutation_p.R177L			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	177						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R177L(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CGCCTTGATCGAGTGCGTGGA	0.507000													15	59					3.41278e-10	4.71503e-10	0.004990	1	0
KRT73	319101	broad.mit.edu	37	12	53012212	53012212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:53012212G>A	ENST00000305748.3	-	1	131	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	33	Gly-rich.|Head.					keratin filament	structural molecule activity	p.R33*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCCCTGCTCGGTAGGAGGAT	0.637000													31	87					0	0	0.004289	0	0
TTK	7272	broad.mit.edu	37	6	80720675	80720675	+	Splice_Site	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:80720675G>T	ENST00000509894.1	+	5	1442		c.e5+1		TTK_ENST00000230510.3_Splice_Site|TTK_ENST00000369798.2_Splice_Site			P33981	TTK_HUMAN	TTK protein kinase						mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATTTATCAGGTAACTATTAA	0.338000													11	57					2.80697e-09	3.71511e-09	0.010729	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576896	33576896	+	Missense_Mutation	SNP	G	G	C	rs145508149	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:33576896G>C	ENST00000504830.1	-	19	3570	c.3235C>G	c.(3235-3237)Cgc>Ggc	p.R1079G	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R994G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1079	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1079G(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATGAGATAGCGAGAGCTCAGC	0.517000										HNSCC(64;0.19)			23	87					0	0	0.004656	0	0
REG3A	5068	broad.mit.edu	37	2	79384741	79384741	+	Silent	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:79384741G>C	ENST00000393878.1	-	4	671	c.417C>G	c.(415-417)acC>acG	p.T139T	REG3A_ENST00000409839.3_Silent_p.T139T|REG3A_ENST00000305165.2_Silent_p.T139T	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	139	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.T139T(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGCTTGAGATGGTGGAGGGAT	0.542000													45	89					0	0	0.011902	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904837	205904837	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:205904837G>A	ENST00000367135.3	-	2	225	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC26A9_ENST00000340781.4_Missense_Mutation_p.R38C|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R38C	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	38						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.R38C(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAGGCATTGCGAAGTTTCTCT	0.552000													18	208					0	0	0.008871	0	0
ST18	9705	broad.mit.edu	37	8	53028861	53028861	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:53028861G>A	ENST00000276480.7	-	25	3660	c.2977C>T	c.(2977-2979)Ctt>Ttt	p.L993F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	993						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L993F(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGTCAGCAAGGCTTGAAATG	0.458000													36	177					0	0	0.003271	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81442863	81442863	+	RNA	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:81442863T>C	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							AGGACTCAGCTGGTCAGCAAT	0.587000													6	15					0	0	0.001168	0	0
CHD8	57680	broad.mit.edu	37	14	21878145	21878145	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:21878145G>A	ENST00000399982.2	-	10	2293	c.2229C>T	c.(2227-2229)ccC>ccT	p.P743P	CHD8_ENST00000557364.1_Silent_p.P743P|CHD8_ENST00000430710.3_Silent_p.P464P|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	743	Chromo 2.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.P743P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGTAAATAACGGGCTAGGAGA	0.383000													15	34					0	0	0.003163	0	0
GTF3C1	2975	broad.mit.edu	37	16	27476052	27476052	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr16:27476052C>G	ENST00000356183.4	-	34	5476	c.5461G>C	c.(5461-5463)Gac>Cac	p.D1821H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1821H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1821						transcription factor TFIIIC complex	DNA binding|protein binding	p.D1821H(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTTCTCTGTCTTTCAGCCGC	0.662000													22	55					0	0	0.005443	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95439773	95439773	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:95439773G>A	ENST00000324972.6	+	3	371	c.178G>A	c.(178-180)Gag>Aag	p.E60K	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.E60K|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.E60K|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.E60K|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.E60K|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.E60K|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.E60K	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	60	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.E60K(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACGAGAGACAGAGGCTTTGCT	0.453000													11	27					0	0	0.002450	0	0
CHGB	1114	broad.mit.edu	37	20	5903619	5903619	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:5903619C>T	ENST00000378961.4	+	4	1033	c.829C>T	c.(829-831)Cga>Tga	p.R277*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	277						extracellular region	hormone activity	p.R277*(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGTGGACAAACGACGCACGAG	0.607000													3	22					0	0	0.004672	0	0
NAV3	89795	broad.mit.edu	37	12	78444594	78444594	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:78444594G>T	ENST00000397909.2	+	11	2356	c.2183G>T	c.(2182-2184)aGg>aTg	p.R728M	NAV3_ENST00000228327.6_Missense_Mutation_p.R728M|NAV3_ENST00000536525.2_Missense_Mutation_p.R728M|NAV3_ENST00000266692.7_Missense_Mutation_p.R728M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	728						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R728M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTTAATGGAAGGACCATACCC	0.517000										HNSCC(70;0.22)			31	115					9.8876e-21	1.60546e-20	0.004878	1	0
TRIO	7204	broad.mit.edu	37	5	14331009	14331009	+	Splice_Site	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:14331009G>T	ENST00000344204.4	+	10	1878	c.1854_splice	c.e10+1	p.Q618_splice	TRIO_ENST00000509967.2_Splice_Site_p.Q569_splice|TRIO_ENST00000537187.1_Splice_Site_p.Q618_splice	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	618					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.?(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGTGGCACAGGTAAAACAAT	0.398000													49	189					7.89702e-26	1.37434e-25	0.003610	1	0
ATM	472	broad.mit.edu	37	11	108160401	108160401	+	Nonsense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:108160401A>T	ENST00000278616.4	+	29	4694	c.4309A>T	c.(4309-4311)Aga>Tga	p.R1437*	ATM_ENST00000452508.2_Nonsense_Mutation_p.R1437*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1437					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R1437*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TAAGAAGCACAGAATTCTTAA	0.318000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			7	30					0	0	0.003080	0	0
E2F7	144455	broad.mit.edu	37	12	77421759	77421759	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:77421759G>T	ENST00000322886.7	-	11	2279	c.2044C>A	c.(2044-2046)Cct>Act	p.P682T	E2F7_ENST00000416496.2_Missense_Mutation_p.P682T	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	682					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.P682T(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTTCTTGAAGGATTTCCCCAC	0.423000													43	158					5.73435e-26	1.00351e-25	0.003610	1	0
SBNO1	55206	broad.mit.edu	37	12	123782543	123782543	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:123782543C>A	ENST00000420886.2	-	30	4020	c.4021G>T	c.(4021-4023)Gat>Tat	p.D1341Y	SBNO1_ENST00000602750.1_Missense_Mutation_p.D1340Y|SBNO1_ENST00000602398.1_Missense_Mutation_p.D1341Y|SBNO1_ENST00000267176.4_Missense_Mutation_p.D1340Y	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1341							ATP binding|DNA binding|hydrolase activity	p.D1340Y(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CGTTGCCCATCTTCCGTTCTT	0.428000													50	167					6.20943e-19	9.829e-19	0.003610	1	0
OR2T4	127074	broad.mit.edu	37	1	248525194	248525194	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:248525194G>A	ENST00000366475.1	+	1	312	c.312G>A	c.(310-312)gcG>gcA	p.A104A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A104A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGACATGGCGTACATTTCTG	0.498000													162	397					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168100444	168100444	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:168100444C>A	ENST00000409195.1	+	9	2631	c.2542C>A	c.(2542-2544)Cag>Aag	p.Q848K	XIRP2_ENST00000409273.1_Missense_Mutation_p.Q626K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q848K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	673					actin cytoskeleton organization	cell junction	actin binding	p.Q848K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTGAAACCCAGCCATTAGA	0.373000													45	117					8.04919e-23	1.34867e-22	0.003610	1	0
BAI3	577	broad.mit.edu	37	6	69349144	69349144	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:69349144T>A	ENST00000370598.1	+	3	1398	c.577T>A	c.(577-579)Tat>Aat	p.Y193N		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	193					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Y193N(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGGATCATGTATACAAAATG	0.463000													16	126					0	0	0.003163	0	0
VPS13B	157680	broad.mit.edu	37	8	100844746	100844746	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:100844746G>T	ENST00000358544.2	+	52	9666	c.9555G>T	c.(9553-9555)atG>atT	p.M3185I	VPS13B_ENST00000357162.2_Missense_Mutation_p.M3160I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3185					protein transport			p.M3185I(1)|p.M3160I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACAGATCATGCTGGGCTTTT	0.542000													7	73					8.12818e-05	9.34445e-05	0.001984	1	0
BCAS1	8537	broad.mit.edu	37	20	52570044	52570044	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:52570044A>T	ENST00000395961.3	-	11	1773	c.1607T>A	c.(1606-1608)cTg>cAg	p.L536Q	BCAS1_ENST00000371435.2_Missense_Mutation_p.L458Q|BCAS1_ENST00000434986.2_Missense_Mutation_p.L202Q|BCAS1_ENST00000371440.3_Missense_Mutation_p.L545Q	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	536						cytoplasm	protein binding	p.L536Q(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCCATTCTGCAGTGAGTTCGT	0.527000													50	134					0	0	0.003610	0	0
SPOPL	339745	broad.mit.edu	37	2	139322555	139322555	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:139322555G>T	ENST00000280098.4	+	10	1405	c.1026G>T	c.(1024-1026)tgG>tgT	p.W342C		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	342						nucleus		p.W342C(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGAAAAACTGGAACAGCAAGT	0.343000													18	70					2.4624e-09	3.27281e-09	0.008871	1	0
NOD2	64127	broad.mit.edu	37	16	50746260	50746260	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr16:50746260G>C	ENST00000300589.2	+	4	2543	c.2438G>C	c.(2437-2439)tGc>tCc	p.C813S		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	813					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.C813S(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGCTGCCTTGCCTTGGTGTC	0.617000													58	160					0	0	0.003610	0	0
LINC00518	221718	broad.mit.edu	37	6	10430311	10430311	+	RNA	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:10430311G>A	ENST00000496285.1	-	0	724					NR_027793.1													p.V59V(1)									GGTGggacgggacgagtagcc	0.448000											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	82					0	0	0.006230	0	0
MYH13	8735	broad.mit.edu	37	17	10265549	10265549	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:10265549A>T	ENST00000418404.3	-	4	554	c.391T>A	c.(391-393)Tgg>Agg	p.W131R	MYH13_ENST00000252172.4_Missense_Mutation_p.W131R|MYH13_ENST00000570743.1_Missense_Mutation_p.W131R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	131	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.W131R(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACCGGCAGCCACTTGTAGGGG	0.527000													29	35					0	0	0.003610	0	0
NFE2	4778	broad.mit.edu	37	12	54686186	54686186	+	Missense_Mutation	SNP	C	C	T	rs141251053	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:54686186C>T	ENST00000540264.2	-	2	1603	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	NFE2_ENST00000312156.4_Missense_Mutation_p.R365Q|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.R365Q|NFE2_ENST00000435572.2_Missense_Mutation_p.R365Q			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	365					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	p.R365Q(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTTGGTCCCCCGGGGCACAAG	0.562000													7	60					0	0	0.004482	0	0
FBXL18	80028	broad.mit.edu	37	7	5540239	5540239	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:5540239C>A	ENST00000382368.3	-	3	1784	c.1661G>T	c.(1660-1662)gGc>gTc	p.G554V	FBXL18_ENST00000453700.3_Missense_Mutation_p.G554V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	554								p.G554V(2)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCACTGCAGGCCGATATTGAC	0.657000													5	30					0.00198382	0.00219264	0.001984	1	0
RASGEF1B	153020	broad.mit.edu	37	4	82369318	82369318	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:82369318C>G	ENST00000509081.1	-	5	777	c.556G>C	c.(556-558)Gtt>Ctt	p.V186L	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V145L|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.V187L			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	187					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.V187L(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GTCTTGAGAACTGTGAGCCGA	0.502000													26	158					0	0	0.004656	0	0
EID2B	126272	broad.mit.edu	37	19	40023401	40023401	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:40023401G>A	ENST00000326282.4	-	1	93	c.42C>T	c.(40-42)ccC>ccT	p.P14P	EID2B_ENST00000601837.1_5'UTR|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	14					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.P14P(1)		endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCTATCTCCGGGGAGCTCGG	0.652000											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	0.004672	0	0
RAB40B	10966	broad.mit.edu	37	17	80622412	80622412	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:80622412T>A	ENST00000571995.1	-	2	294	c.163A>T	c.(163-165)Acc>Tcc	p.T55S	RAB40B_ENST00000538809.2_Missense_Mutation_p.T55S|RAB40B_ENST00000269347.6_5'UTR	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	55					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.T55S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGCAGGATGGTGGTCGTCTTG	0.627000													22	86					0	0	0.005443	0	0
OSBPL8	114882	broad.mit.edu	37	12	76779954	76779954	+	Silent	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:76779954A>G	ENST00000261183.3	-	14	2006	c.1527T>C	c.(1525-1527)gcT>gcC	p.A509A	OSBPL8_ENST00000393249.2_Silent_p.A467A|OSBPL8_ENST00000393250.4_Silent_p.A467A	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	509					lipid transport		lipid binding	p.A509A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATACCTGTTCAGCAATATAAA	0.313000													9	32					0	0	0.006214	0	0
OR5W2	390148	broad.mit.edu	37	11	55681403	55681403	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:55681403C>T	ENST00000344514.1	-	1	655	c.656G>A	c.(655-657)tGt>tAt	p.C219Y		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C219Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATGATATAACAATAAGAAAT	0.408000													26	81					0	0	0.007291	0	0
SMC6	79677	broad.mit.edu	37	2	17896178	17896178	+	Silent	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:17896178T>A	ENST00000448223.2	-	16	1949	c.1680A>T	c.(1678-1680)ccA>ccT	p.P560P	SMC6_ENST00000351948.4_Silent_p.P560P|SMC6_ENST00000381272.4_Silent_p.P586P|SMC6_ENST00000402989.1_Silent_p.P560P	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	560	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.P560P(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTATTATCGGTGGCCGTGAGG	0.403000													52	115					0	0	0.003610	0	0
MALAT1	378938	broad.mit.edu	37	11	65271178	65271178	+	RNA	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:65271178G>C	ENST00000534336.1	+	0	5946					NR_002819.2																						ATCTTGGGGGGGATTCTTCTC	0.358000													14	82					0	0	0.004007	0	0
ANGPT1	284	broad.mit.edu	37	8	108264187	108264187	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:108264187C>G	ENST00000520734.1	-	8	1078	c.793G>C	c.(793-795)Gga>Cga	p.G265R	ANGPT1_ENST00000520052.1_Missense_Mutation_p.G264R|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	465					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G465R(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGGTTTTGTCCCGCAGTATAG	0.408000													53	300					0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104129313	104129313	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:104129313G>A	ENST00000388887.2	+	52	5709	c.5505G>A	c.(5503-5505)ctG>ctA	p.L1835L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1835	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.L1835L(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGAAGACCCTGCAAGGTTCAG	0.542000													8	31					0	0	0.004482	0	0
PRDM10	56980	broad.mit.edu	37	11	129817146	129817146	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:129817146C>T	ENST00000358825.5	-	5	645	c.414G>A	c.(412-414)gaG>gaA	p.E138E	PRDM10_ENST00000423662.2_Silent_p.E52E|PRDM10_ENST00000360871.3_Silent_p.E138E|PRDM10_ENST00000304538.6_Silent_p.E52E|PRDM10_ENST00000526082.1_Silent_p.E52E|PRDM10_ENST00000528746.1_Silent_p.E112E	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E138E(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGTCCTCATCCTCATCCTCTT	0.597000													13	99					0	0	0.003163	0	0
SNHG14	104472715	broad.mit.edu	37	15	25432736	25432736	+	RNA	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:25432736C>T	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.493000													45	357					0	0	0.003610	0	0
SMOC2	64094	broad.mit.edu	37	6	169008863	169008863	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:169008863C>A	ENST00000354536.5	+	9	1104	c.884C>A	c.(883-885)aCg>aAg	p.T295K	SMOC2_ENST00000356284.2_Missense_Mutation_p.T284K	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	284					signal transduction	basement membrane	calcium ion binding	p.T295K(1)		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)		TGTGACAACACGGCCAGGGCC	0.632000													6	17					8.12818e-05	9.34445e-05	0.001984	1	0
PTPRD	5789	broad.mit.edu	37	9	8492918	8492918	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:8492918G>T	ENST00000381196.4	-	24	2954	c.2411C>A	c.(2410-2412)aCa>aAa	p.T804K	PTPRD_ENST00000360074.4_Missense_Mutation_p.T791K|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.T804K|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.T782K|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.T804K|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	804	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T804K(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCTTTGGTTGTGTAGGCTGT	0.468000										TSP Lung(15;0.13)			16	191					2.4624e-09	3.27281e-09	0.008871	1	0
PPP2R2D	55844	broad.mit.edu	37	10	133758920	133758920	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:133758920G>A	ENST00000422256.2	+	4	581	c.96G>A	c.(94-96)ctG>ctA	p.L32L	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	259					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.L32L(1)|p.L228L(1)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CCATCCGCCTGTGTGACATGC	0.582000													14	61					0	0	0.006122	0	0
RNF8	9025	broad.mit.edu	37	6	37336424	37336424	+	Silent	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:37336424T>C	ENST00000373479.4	+	3	598	c.405T>C	c.(403-405)tgT>tgC	p.C135C	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Silent_p.C135C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	135					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.C135C(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TATATCCTTGTCTTTCCCCAA	0.398000													15	115					0	0	0.002450	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541998	133541998	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:133541998G>C	ENST00000409261.1	-	14	2759	c.2386C>G	c.(2386-2388)Caa>Gaa	p.Q796E	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q796E	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	796							protein binding	p.Q796E(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTTGCTTTTGATAGATGCCC	0.463000													52	241					0	0	0.003610	0	0
MED12L	116931	broad.mit.edu	37	3	151085496	151085496	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:151085496G>T	ENST00000474524.1	+	22	3323	c.3285G>T	c.(3283-3285)caG>caT	p.Q1095H	MED12L_ENST00000273432.4_Missense_Mutation_p.Q955H|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1095					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q1095H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGCACGACAGTGTTTTTCCC	0.433000													70	115					3.1711e-36	5.87585e-36	0.003610	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5239824	5239824	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:5239824G>T	ENST00000274181.7	+	16	2447	c.2309G>T	c.(2308-2310)gGa>gTa	p.G770V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	770	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G770V(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTCCTTCTGGAGCCCGGAGT	0.473000													82	210					2.38877e-28	4.2512e-28	0.003610	1	0
NUP155	9631	broad.mit.edu	37	5	37370996	37370996	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:37370996C>A	ENST00000231498.3	-	1	287	c.84G>T	c.(82-84)cgG>cgT	p.R28R	NUP155_ENST00000513532.1_Silent_p.R28R	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	28					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.R28R(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGTCGATGAGCCGTCCAGCAT	0.572000													37	139					4.62619e-21	7.58984e-21	0.004289	1	0
SPHKAP	80309	broad.mit.edu	37	2	228882302	228882302	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:228882302C>A	ENST00000392056.3	-	7	3314	c.3268G>T	c.(3268-3270)Gac>Tac	p.D1090Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1090Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1090						cytoplasm	protein binding	p.D1090Y(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCCTCGGAGTCTTCCTCAGGA	0.627000													10	37					3.86212e-05	4.53943e-05	0.008291	1	0
NXPH1	30010	broad.mit.edu	37	7	8790645	8790645	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:8790645G>T	ENST00000405863.1	+	3	973	c.62G>T	c.(61-63)tGt>tTt	p.C21F	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	21						extracellular region		p.C21F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CAGGTCACATGTGCCAATTTA	0.408000													15	92					6.31663e-08	7.99091e-08	0.003163	1	0
PCMTD1	115294	broad.mit.edu	37	8	52733224	52733224	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:52733224G>A	ENST00000360540.5	-	7	1167	c.761C>T	c.(760-762)aCa>aTa	p.T254I	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.T178I|PCMTD1_ENST00000522514.1_Missense_Mutation_p.T254I	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	254						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.T254I(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ATTTCTAAGTGTGCGTCGAAT	0.378000													5	179					0	0	0.000602	0	0
CGN	57530	broad.mit.edu	37	1	151508772	151508772	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:151508772C>T	ENST00000271636.7	+	19	3390	c.3257C>T	c.(3256-3258)tCc>tTc	p.S1086F		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1080						myosin complex|tight junction	actin binding|motor activity	p.S1086F(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGAACTATCCATCCAGATT	0.478000													26	83					0	0	0.006320	0	0
DPP4	1803	broad.mit.edu	37	2	162902123	162902123	+	Splice_Site	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:162902123C>T	ENST00000360534.3	-	5	846		c.e5-1			NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CAAACTCATCCTGTCAAACAA	0.353000													8	46					0	0	0.006214	0	0
DSN1	79980	broad.mit.edu	37	20	35386512	35386512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:35386512C>A	ENST00000426836.1	-	8	1075	c.703G>T	c.(703-705)Gag>Tag	p.E235*	DSN1_ENST00000373734.4_Nonsense_Mutation_p.E128*|DSN1_ENST00000373740.3_Nonsense_Mutation_p.E163*|DSN1_ENST00000373745.3_Nonsense_Mutation_p.E235*|DSN1_ENST00000373750.4_Nonsense_Mutation_p.E235*|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.1_Nonsense_Mutation_p.E219*	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	235					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	p.E235*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TCTTTAGCCTCCTGCTGGTAG	0.338000													9	36					3.86212e-05	4.53943e-05	0.008291	1	0
NRXN1	9378	broad.mit.edu	37	2	50149296	50149296	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:50149296A>G	ENST00000404971.1	-	24	5769	c.4430T>C	c.(4429-4431)aTa>aCa	p.I1477T	NRXN1_ENST00000401710.1_Missense_Mutation_p.I425T|NRXN1_ENST00000405472.3_Missense_Mutation_p.I1429T|NRXN1_ENST00000406859.3_Missense_Mutation_p.I1407T|NRXN1_ENST00000401669.2_Missense_Mutation_p.I1437T|NRXN1_ENST00000402717.3_Missense_Mutation_p.I1429T|NRXN1_ENST00000406316.2_Missense_Mutation_p.I1407T|NRXN1_ENST00000342183.5_Missense_Mutation_p.I372T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1407					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	p.I372T(1)|p.I1407T(1)|p.I1477T(1)|p.I1478T(1)		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)			AGCGGCTACTATCCCAACGAC	0.567000													9	65					0	0	0.001855	0	0
C1orf63	57035	broad.mit.edu	37	1	25573174	25573174	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:25573174C>A	ENST00000243189.7	-	2	557	c.281G>T	c.(280-282)cGa>cTa	p.R94L	C1orf63_ENST00000431849.2_Missense_Mutation_p.R94L|C1orf63_ENST00000417642.2_Missense_Mutation_p.R87L	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	94	Arg-rich.							p.R94L(1)		breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCGCCTCTCTCGGTAACGGCG	0.667000													5	25					5.50884e-06	6.6486e-06	0.001368	1	0
RHEB	6009	broad.mit.edu	37	7	151188085	151188085	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:151188085G>A	ENST00000262187.5	-	2	480	c.68C>T	c.(67-69)aCg>aTg	p.T23M	RHEB_ENST00000496004.1_De_novo_Start_InFrame|RHEB_ENST00000472642.1_De_novo_Start_InFrame	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	23					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	p.T23M(1)|p.T23K(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AAATTGAATCGTCAATGAGGA	0.318000													9	83					0	0	0.006214	0	0
LRRK1	79705	broad.mit.edu	37	15	101523840	101523840	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:101523840A>T	ENST00000284395.5	+	4	688	c.288A>T	c.(286-288)ccA>ccT	p.P96P	LRRK1_ENST00000532029.2_Silent_p.P123P|LRRK1_ENST00000388948.3_Silent_p.P123P			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	123					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P123P(1)|p.P96P(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGACAACCCAGCCGTGGTGG	0.562000													24	42					0	0	0.003755	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685797	125685797	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chrX:125685797C>T	ENST00000371126.1	-	1	1037	c.795G>A	c.(793-795)gtG>gtA	p.V265V		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	265								p.V265V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCAGGGCCCGCACCTTGCGGT	0.647000													18	13					0	0	0.001882	0	0
EPB41L2	2037	broad.mit.edu	37	6	131190797	131190797	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:131190797A>T	ENST00000337057.3	-	15	2694	c.2513T>A	c.(2512-2514)aTg>aAg	p.M838K	EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.M768K|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.M768K|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.M838K|EPB41L2_ENST00000524581.1_Missense_Mutation_p.M216K|EPB41L2_ENST00000445890.2_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	838					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.M838K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCTTCTCCCATGTCTTGCTT	0.443000													70	192					0	0	0.003610	0	0
APC	324	broad.mit.edu	37	5	112175531	112175531	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:112175531G>A	ENST00000457016.1	+	16	4620	c.4240G>A	c.(4240-4242)Gta>Ata	p.V1414I	APC_ENST00000257430.4_Missense_Mutation_p.V1414I|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.V1414I			P25054	APC_HUMAN	adenomatous polyposis coli	1414	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.V1414fs*9(6)|p.V1414I(2)|p.V1414fs*1(2)|p.Y1376fs*41(1)|p.?(1)|p.S1411fs*41(1)|p.M1413fs*5(1)|p.P1409fs*6(1)|p.K1192fs*3(1)|p.V1414fs*3(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGTGGAATGGTAAGTGGCAT	0.478000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			29	64					0	0	0.008361	0	0
GJD2	57369	broad.mit.edu	37	15	35045111	35045111	+	Silent	SNP	T	T	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:35045111T>G	ENST00000290374.4	-	2	1010	c.534A>C	c.(532-534)ccA>ccC	p.P178P		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	178					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.P178P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GTAGACCTGATGGGTGTGGAG	0.483000													39	219					0	0	0.005524	0	0
BCAN	63827	broad.mit.edu	37	1	156617830	156617830	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:156617830G>T	ENST00000329117.4	+	5	1033	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	BCAN_ENST00000361588.5_Missense_Mutation_p.G233W|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	233	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.G233W(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCTTCCCCGGGGTCCGGAA	0.532000													23	166					5.35356e-11	7.5622e-11	0.002780	1	0
APBB2	323	broad.mit.edu	37	4	40946967	40946967	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:40946967C>A	ENST00000295974.8	-	7	1585	c.956G>T	c.(955-957)cGg>cTg	p.R319L	APBB2_ENST00000508593.1_Missense_Mutation_p.R320L|APBB2_ENST00000506352.1_Missense_Mutation_p.R319L|APBB2_ENST00000513140.1_Missense_Mutation_p.R319L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	319	WW.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.R319L(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGAGACGGGCCGTTCCCACTG	0.532000													27	92					8.58068e-18	1.33808e-17	0.007291	1	0
HERC2	8924	broad.mit.edu	37	15	28456198	28456198	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:28456198C>G	ENST00000261609.7	-	44	7127	c.7019G>C	c.(7018-7020)cGg>cCg	p.R2340P		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2340					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R2340P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGGATCTGCCGCAGTTTATC	0.502000													17	102					0	0	0.010504	0	0
CD63	967	broad.mit.edu	37	12	56120552	56120552	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:56120552G>A	ENST00000549117.1	-	5	794	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	CD63_ENST00000548898.1_Missense_Mutation_p.R27W|CD63_ENST00000552754.1_Missense_Mutation_p.R97W|CD63_ENST00000257857.4_Missense_Mutation_p.R120W|CD63_ENST00000550776.1_Missense_Mutation_p.R38W|CD63_ENST00000552067.1_Missense_Mutation_p.R27W|CD63_ENST00000420846.3_Missense_Mutation_p.R120W|CD63_ENST00000548160.1_Missense_Mutation_p.R27W|CD63_ENST00000546939.1_Missense_Mutation_p.R38W|CD63_ENST00000552692.1_Missense_Mutation_p.R120W	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	120					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		p.R120W(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATCTGCTGCCGGAAGTTGTTA	0.557000													21	191					0	0	0.002299	0	0
SLC19A3	80704	broad.mit.edu	37	2	228564115	228564115	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:228564115T>C	ENST00000258403.3	-	3	387	c.316A>G	c.(316-318)Atg>Gtg	p.M106V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.M102V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	106					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.M106V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ACAACCTGCATGGTCTTCACT	0.527000													5	223					0	0	0.004482	0	0
PDE6A	5145	broad.mit.edu	37	5	149264140	149264140	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:149264140G>T	ENST00000255266.5	-	16	2048	c.1929C>A	c.(1927-1929)agC>agA	p.S643R		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	643					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.S643R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGATATTCAGGCTCTAAAGAA	0.483000													19	67					1.40151e-16	2.14309e-16	0.010504	1	0
DRD1	1812	broad.mit.edu	37	5	174869878	174869878	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:174869878G>A	ENST00000393752.2	-	2	1217	c.225C>T	c.(223-225)gtC>gtT	p.V75V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	75					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.V75V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GCATGACCAGGACGGCCACCA	0.562000													4	54					0	0	0.003080	0	0
ANO6	196527	broad.mit.edu	37	12	45823076	45823076	+	Silent	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:45823076A>G	ENST00000320560.8	+	20	2917	c.2715A>G	c.(2713-2715)ttA>ttG	p.L905L	ANO6_ENST00000435642.1_Intron|ANO6_ENST00000425752.2_Intron|ANO6_ENST00000423947.3_Silent_p.L926L|ANO6_ENST00000441606.2_Silent_p.L887L	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	905					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.L905L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATAACAATTTACGGCCAAAAT	0.353000													8	39					0	0	0.010729	0	0
USP22	23326	broad.mit.edu	37	17	20922486	20922486	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:20922486T>C	ENST00000261497.4	-	4	634	c.431A>G	c.(430-432)aAg>aGg	p.K144R	USP22_ENST00000537526.2_Missense_Mutation_p.K132R|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	144					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.K366R(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						AGTTGAAAACTTCTCTCCAAC	0.473000													41	116					0	0	0.003214	0	0
EXO1	9156	broad.mit.edu	37	1	242042436	242042436	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:242042436C>A	ENST00000366548.3	+	13	2493	c.1900C>A	c.(1900-1902)Cga>Aga	p.R634R	EXO1_ENST00000518483.1_Silent_p.R634R|EXO1_ENST00000348581.5_Silent_p.R634R	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	634	Interaction with MSH2.		R -> Q (in dbSNP:rs4149978).		meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.R634R(1)|p.R634*(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GCAGCAGTTCCGAAGAAAGAG	0.483000								Editing and processing nucleases					4	101					0.00909568	0.0099484	0.009096	1	0
OR5AU1	390445	broad.mit.edu	37	14	21623954	21623954	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:21623954C>T	ENST00000304418.3	-	1	268	c.231G>A	c.(229-231)ctG>ctA	p.L77L		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L77L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CCACGAAGAGCAGCCTCTGGA	0.582000													13	46					0	0	0.001855	0	0
ASTN1	460	broad.mit.edu	37	1	177030287	177030287	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:177030287C>T	ENST00000367654.2	-	2	411	c.398G>A	c.(397-399)gGa>gAa	p.G133E	ASTN1_ENST00000367657.3_Missense_Mutation_p.G133E|ASTN1_ENST00000361833.2_Missense_Mutation_p.G133E|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G133E			O14525	ASTN1_HUMAN	astrotactin 1	133					cell migration|neuron cell-cell adhesion	integral to membrane		p.G133E(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGGTCTTGTCCAGGAAGGCT	0.532000													37	311					0	0	0.004289	0	0
PRKD1	5587	broad.mit.edu	37	14	30133002	30133002	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:30133002C>A	ENST00000331968.5	-	4	828	c.599G>T	c.(598-600)aGg>aTg	p.R200M	PRKD1_ENST00000415220.2_Missense_Mutation_p.R200M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	200	Poly-Arg.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.R200M(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTCTCCGCCTCACACCGCT	0.458000													83	330					3.47446e-26	6.14863e-26	0.003610	1	0
NLRP11	204801	broad.mit.edu	37	19	56320357	56320357	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:56320357G>A	ENST00000443188.1	-	5	2329	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	NLRP11_ENST00000589824.2_Missense_Mutation_p.T540M|NLRP11_ENST00000592953.1_Missense_Mutation_p.T441M|NLRP11_ENST00000589093.1_Missense_Mutation_p.T540M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T540M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	540							ATP binding	p.T540M(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATATGGTGCGTCAACTTTTC	0.448000													27	156					0	0	0.007291	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701601	23701601	+	Splice_Site	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:23701601G>A	ENST00000397312.2	-	5	763	c.487_splice	c.e5-1	p.G163_splice	ELAVL2_ENST00000380110.4_Splice_Site_p.G192_splice|ELAVL2_ENST00000544538.1_Splice_Site_p.G163_splice|ELAVL2_ENST00000380117.1_Splice_Site_p.G163_splice|ELAVL2_ENST00000223951.6_Splice_Site_p.G163_splice	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	163	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G163G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCCTTGATATGCCTATGGTAG	0.438000													36	152					0	0	0.007835	0	0
CNTN4	152330	broad.mit.edu	37	3	3078942	3078942	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:3078942A>T	ENST00000397461.1	+	17	2406	c.2022A>T	c.(2020-2022)acA>acT	p.T674T	CNTN4_ENST00000358480.3_Silent_p.T455T|CNTN4_ENST00000427331.1_Silent_p.T674T|CNTN4_ENST00000418658.1_Silent_p.T674T|CNTN4_ENST00000397459.2_Silent_p.T346T|CNTN4_ENST00000448906.2_Silent_p.T346T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	674	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.T346T(1)|p.T674T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATTCCGCACAGTTGCAGCCA	0.517000													140	260					0	0	0.003610	0	0
GLI1	2735	broad.mit.edu	37	12	57864593	57864593	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:57864593C>T	ENST00000228682.2	+	12	2161	c.2070C>T	c.(2068-2070)ccC>ccT	p.P690P	GLI1_ENST00000546141.1_Silent_p.P649P|GLI1_ENST00000543426.1_Silent_p.P562P	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	690					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.P690P(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACAGCCCCCCAGCATCACTG	0.567000													13	64					0	0	0.002450	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392728	89392728	+	RNA	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:89392728G>T	ENST00000532352.1	+	0	551							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAGCTGGCAGGGGCCAAAGGA	0.433000													22	66					1.68575e-08	2.19427e-08	0.007291	1	0
FAM167A	83648	broad.mit.edu	37	8	11301689	11301689	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:11301689C>A	ENST00000284486.4	-	2	770	c.232G>T	c.(232-234)Ggg>Tgg	p.G78W	FAM167A_ENST00000528897.1_Missense_Mutation_p.G78W|FAM167A_ENST00000534308.1_Missense_Mutation_p.G78W	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	78								p.G78W(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						GGCTCCTGCCCCCCACGCTCC	0.692000													8	37					0.00010058	0.00011521	0.001368	1	0
NLRP4	147945	broad.mit.edu	37	19	56369782	56369782	+	Silent	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:56369782G>T	ENST00000301295.6	+	3	1445	c.1023G>T	c.(1021-1023)ccG>ccT	p.P341P	NLRP4_ENST00000346986.5_Silent_p.P341P|NLRP4_ENST00000587891.1_Silent_p.P266P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	341	NACHT.						ATP binding	p.P341P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCCAAATCCCGCTCCTCTGCT	0.473000													13	66					0.000308642	0.00034972	0.003163	1	0
ANKFN1	162282	broad.mit.edu	37	17	54517752	54517752	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:54517752G>T	ENST00000566473.2	+	8	984	c.984G>T	c.(982-984)caG>caT	p.Q328H	ANKFN1_ENST00000318698.2_Missense_Mutation_p.Q328H			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	328	Fibronectin type-III.							p.Q328H(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATAATCTGCAGACTCTGAGAT	0.448000													12	50					3.27435e-08	4.17579e-08	0.002450	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729987	37729987	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:37729987C>A	ENST00000330843.4	-	4	2345	c.2333G>T	c.(2332-2334)gGa>gTa	p.G778V	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	778					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.G778V(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GACTGATGCTCCCATGGGAAG	0.547000													14	113					3.27435e-08	4.17579e-08	0.002450	1	0
PTPRT	11122	broad.mit.edu	37	20	41385102	41385102	+	Splice_Site	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:41385102C>T	ENST00000373198.3	-	6	1094	c.859_splice	c.e6+1	p.E287_splice	PTPRT_ENST00000373190.1_Splice_Site_p.E287_splice|PTPRT_ENST00000373193.3_Splice_Site_p.E287_splice|PTPRT_ENST00000373201.1_Splice_Site_p.E287_splice|PTPRT_ENST00000373187.1_Splice_Site_p.E287_splice|PTPRT_ENST00000356100.2_Splice_Site_p.E287_splice|PTPRT_ENST00000373184.1_Splice_Site_p.E287_splice	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	287					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.E287K(1)|p.E287*(1)|p.?(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGCACTCACCTTTCACGATC	0.567000													16	24					0	0	0.004007	0	0
LUZP1	7798	broad.mit.edu	37	1	23417946	23417946	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:23417946G>C	ENST00000302291.4	-	4	3610	c.2809C>G	c.(2809-2811)Cca>Gca	p.P937A	LUZP1_ENST00000418342.1_Missense_Mutation_p.P937A|LUZP1_ENST00000314174.5_Missense_Mutation_p.P937A|LUZP1_ENST00000374623.3_Missense_Mutation_p.P937A			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus		p.P937A(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		ATTCGAGTTGGGGGGTCTTCT	0.502000													17	169					0	0	0.004990	0	0
FLNC	2318	broad.mit.edu	37	7	128496821	128496821	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:128496821C>G	ENST00000325888.8	+	45	7668	c.7407C>G	c.(7405-7407)atC>atG	p.I2469M	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.I2436M	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2469	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.I2469M(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCGCTTCATCCCCCACGAGA	0.602000													27	41					0	0	0.008361	0	0
LNX2	222484	broad.mit.edu	37	13	28143301	28143301	+	Silent	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr13:28143301A>G	ENST00000316334.3	-	3	649	c.520T>C	c.(520-522)Tta>Cta	p.L174L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	174							zinc ion binding	p.L174L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TCTGGAGATAAGGTACCTGCA	0.517000													100	203					0	0	0.003610	0	0
PRKDC	5591	broad.mit.edu	37	8	48690420	48690420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:48690420C>A	ENST00000314191.2	-	85	11922	c.11866G>T	c.(11866-11868)Gag>Tag	p.E3956*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3925*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3957	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.E3957*(1)|p.E3956*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGCATCAACTCAGGGACTGGC	0.458000								Non-homologous end-joining					20	66					2.94398e-08	3.78512e-08	0.007413	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140763083	140763083	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:140763083G>T	ENST00000518325.1	+	1	617	c.617G>T	c.(616-618)cGg>cTg	p.R206L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1												p.R206L(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAAGAGCGGGTTCACCAC	0.622000													7	27					5.4927e-09	7.17926e-09	0.004482	1	0
RAET1K	646024	broad.mit.edu	37	6	150322055	150322055	+	RNA	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:150322055T>C	ENST00000533735.1	-	0	821					NR_024045.1																						CAATCCCCCATTGAAATGTTA	0.428000													8	31					0	0	0.001855	0	0
PGBD1	84547	broad.mit.edu	37	6	28254889	28254889	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:28254889G>C	ENST00000405948.2	+	4	1006	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	PGBD1_ENST00000259883.3_Missense_Mutation_p.E196Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	196					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.E196Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TCATCTCCAGGAAAAAAACCC	0.507000													20	41					0	0	0.003954	0	0
MINK1	50488	broad.mit.edu	37	17	4787674	4787674	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:4787674G>T	ENST00000355280.6	+	5	519	c.323G>T	c.(322-324)tGt>tTt	p.C108F	MINK1_ENST00000453408.3_Missense_Mutation_p.C108F|MINK1_ENST00000347992.7_Missense_Mutation_p.C108F	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	108	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.C108F(2)		central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ATGGAGTTCTGTGGTGCTGGT	0.542000													7	41					0.00198382	0.00219264	0.001984	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658885	72658885	+	RNA	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:72658885G>A	ENST00000425256.1	-	0	1026					NR_002164.1																						ggccctcctggtctatcttgc	0.398000													92	154					0	0	0.003610	0	0
THSD7B	80731	broad.mit.edu	37	2	138163266	138163266	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:138163266C>A	ENST00000409968.1	+	13	2762	c.2584C>A	c.(2584-2586)Caa>Aaa	p.Q862K	THSD7B_ENST00000272643.3_Missense_Mutation_p.Q862K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.Q831K					thrombospondin, type I, domain containing 7B									p.Q862K(1)|p.Q831K(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTCCTTGTGCAAGAATGCAC	0.502000													11	47					3.07112e-06	3.73514e-06	0.010729	1	0
RNF121	55298	broad.mit.edu	37	11	71693869	71693869	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:71693869G>T	ENST00000361756.3	+	4	667	c.306G>T	c.(304-306)tgG>tgT	p.W102C	RNF121_ENST00000530137.1_Missense_Mutation_p.W70C|RNF121_ENST00000393713.3_Missense_Mutation_p.W70C|RNF121_ENST00000545854.1_Missense_Mutation_p.W21C|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	102						integral to membrane	zinc ion binding	p.W102C(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TGCACTGGTGGAGGTTCCTAG	0.502000													45	152					8.0703e-11	1.13489e-10	0.003610	1	0
ZNF648	127665	broad.mit.edu	37	1	182026435	182026435	+	Silent	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:182026435C>G	ENST00000339948.3	-	2	918	c.711G>C	c.(709-711)gcG>gcC	p.A237A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A237A(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CGCGCCGGCCCGCCTGGTTCT	0.701000													4	16					0	0	0.000602	0	0
KIF4B	285643	broad.mit.edu	37	5	154394443	154394443	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:154394443G>C	ENST00000435029.4	+	1	1184	c.1024G>C	c.(1024-1026)Gtt>Ctt	p.V342L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	342	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.V342L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAACCTATTGTTAATATTGA	0.433000													84	243					0	0	0.003610	0	0
PROCR	10544	broad.mit.edu	37	20	33764159	33764159	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:33764159T>C	ENST00000216968.4	+	3	593	c.511T>C	c.(511-513)Tac>Cac	p.Y171H	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	171					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	p.Y171H(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GCTCAATGCCTACAACCGCAC	0.557000													3	174					0	0	0.004672	0	0
SH3TC2	79628	broad.mit.edu	37	5	148386452	148386452	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:148386452G>T	ENST00000515425.1	-	16	3768	c.3667C>A	c.(3667-3669)Cag>Aag	p.Q1223K	SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.Q1216K|SH3TC2_ENST00000502274.1_Missense_Mutation_p.Q85K	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1223							binding	p.Q1223K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTCAGCTGGCAGAAGGTG	0.552000													49	122					4.88482e-21	7.97264e-21	0.003610	1	0
YY2	404281	broad.mit.edu	37	X	21875364	21875364	+	Silent	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chrX:21875364C>G	ENST00000429584.2	+	1	1260	c.762C>G	c.(760-762)gtC>gtG	p.V254V	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	254	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	p.V254V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCAAAACAGTCCCTTGCTCTT	0.502000													80	72					0	0	0.003610	0	0
KIN	22944	broad.mit.edu	37	10	7801874	7801874	+	Silent	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:7801874T>A	ENST00000379562.3	-	12	1145	c.1098A>T	c.(1096-1098)tcA>tcT	p.S366S	KIN_ENST00000463666.1_5'UTR|KIN_ENST00000543003.1_Silent_p.S260S|KIN_ENST00000535925.1_Silent_p.S366S			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	366	C-terminal subdomain B.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	p.S366S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CGATAGTAGCTGAAAAAGTCT	0.303000													6	54					0	0	0.001984	0	0
NUP133	55746	broad.mit.edu	37	1	229636555	229636555	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:229636555T>C	ENST00000261396.3	-	4	552	c.461A>G	c.(460-462)gAc>gGc	p.D154G	NUP133_ENST00000366679.1_Missense_Mutation_p.D154G|NUP133_ENST00000537506.1_Missense_Mutation_p.D138G|NUP133_ENST00000366678.3_Missense_Mutation_p.D154G	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	154					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.D154G(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGCCACTAAGTCGGCACTCCA	0.398000													8	37					0	0	0.010729	0	0
F13B	2165	broad.mit.edu	37	1	197019870	197019870	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:197019870G>A	ENST00000367412.1	-	10	1738	c.1695C>T	c.(1693-1695)gcC>gcT	p.A565A	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	565	Sushi 9.				blood coagulation	extracellular region		p.A565A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTAAACAATAGGCCTCCCTAG	0.348000													14	70					0	0	0.004007	0	0
LGI1	9211	broad.mit.edu	37	10	95517964	95517964	+	Silent	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:95517964T>C	ENST00000371418.4	+	1	323	c.63T>C	c.(61-63)taT>taC	p.Y21Y	LGI1_ENST00000542308.1_Silent_p.Y21Y|LGI1_ENST00000371413.3_Silent_p.Y21Y|LGI1_ENST00000478763.1_3'UTR	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	21					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.Y21Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GAATTGCTTATTTCCTATGTC	0.443000													15	77					0	0	0.004990	0	0
DEFA6	1671	broad.mit.edu	37	8	6783434	6783434	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:6783434G>T	ENST00000297436.2	-	1	164	c.124C>A	c.(124-126)Cgt>Agt	p.R42S		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	42					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.R42S(1)		lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTTGCCCCACGCTGCTCCTGG	0.557000													8	47					1.12685e-05	1.34965e-05	0.004482	1	0
LHX1	3975	broad.mit.edu	37	17	35297911	35297911	+	Silent	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:35297911C>G	ENST00000254457.5	+	3	1813	c.402C>G	c.(400-402)acC>acG	p.T134T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	134					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.T134T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TCTTAGCCACCACGGGCAGTG	0.647000													12	35					0	0	0.010729	0	0
NTRK1	4914	broad.mit.edu	37	1	156837895	156837895	+	Splice_Site	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:156837895G>T	ENST00000368196.3	+	5	548		c.e5-1		NTRK1_ENST00000358660.3_Splice_Site|NTRK1_ENST00000524377.1_Splice_Site|NTRK1_ENST00000392302.2_Splice_Site	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ATGCCCCCCAGGGTCCTGTCG	0.627000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			56	88					9.04393e-38	1.69574e-37	0.003610	1	0
NPC1L1	29881	broad.mit.edu	37	7	44571766	44571766	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:44571766C>A	ENST00000289547.4	-	9	2515	c.2460G>T	c.(2458-2460)ccG>ccT	p.P820P	NPC1L1_ENST00000381160.3_Silent_p.P820P|NPC1L1_ENST00000546276.1_Silent_p.P820P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	820					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.P820P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCTGGCCAGGCGGGGGCAGCT	0.647000													51	120					5.47352e-35	1.00828e-34	0.003610	1	0
KRT84	3890	broad.mit.edu	37	12	52778968	52778968	+	Silent	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:52778968G>T	ENST00000257951.3	-	1	468	c.402C>A	c.(400-402)gcC>gcA	p.A134A	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	134	Head.					keratin filament	structural constituent of epidermis	p.A134A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGATAGATGGGGCTGCTGGGA	0.567000													88	223					6.09681e-45	1.16394e-44	0.003610	1	0
C7orf34	135927	broad.mit.edu	37	7	142636692	142636692	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:142636692G>A	ENST00000409607.3	+	1	90	c.49G>A	c.(49-51)Ggc>Agc	p.G17S		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	0						extracellular region		p.G17S(1)		large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AGCAGGGGGCGGCCAAAGGCA	0.647000													17	45					0	0	0.002299	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267519	79267519	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:79267519C>A	ENST00000428286.1	-	11	8560	c.7360G>T	c.(7360-7362)Gac>Tac	p.D2454Y	PRUNE2_ENST00000223609.6_Missense_Mutation_p.D77Y|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D62Y|PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2813Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2813					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.D2813Y(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCACTTTGGTCCAGAGAAAGA	0.413000													26	219					1.1804e-14	1.7375e-14	0.003954	1	0
CCKBR	887	broad.mit.edu	37	11	6291976	6291976	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:6291976G>A	ENST00000525462.1	+	4	757	c.754G>A	c.(754-756)Gac>Aac	p.D252N	CCKBR_ENST00000532715.1_Missense_Mutation_p.D168N|CCKBR_ENST00000334619.2_Missense_Mutation_p.D252N			P32239	GASR_HUMAN	cholecystokinin B receptor	210					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.D252N(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTTCGCTTTGACGGCGACAG	0.607000													25	57					0	0	0.007291	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332478	22332478	+	RNA	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:22332478C>A	ENST00000558896.1	+	0	285																											TTGGGAGCTGCAGCTATTTCT	0.393000													32	264					4.40665e-25	7.58521e-25	0.009535	1	0
KCNA5	3741	broad.mit.edu	37	12	5155110	5155110	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:5155110C>A	ENST00000252321.3	+	1	2026	c.1797C>A	c.(1795-1797)tcC>tcA	p.S599S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	599						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.S599S(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGCGGAGGTCCCTTTATGCCC	0.582000													20	42					3.62473e-10	4.98599e-10	0.001882	1	0
OR6F1	343169	broad.mit.edu	37	1	247876019	247876019	+	Silent	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:247876019G>T	ENST00000302084.2	-	1	86	c.39C>A	c.(37-39)ctC>ctA	p.L13L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	13			L -> P (in dbSNP:rs60303431).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L13L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGCCCAGTAAGAGAAAGTCCT	0.463000													41	184					2.19962e-31	3.95932e-31	0.008740	1	0
FLG	2312	broad.mit.edu	37	1	152280088	152280088	+	Missense_Mutation	SNP	T	T	A	rs148955202		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:152280088T>A	ENST00000368799.1	-	3	7309	c.7274A>T	c.(7273-7275)gAg>gTg	p.E2425V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2425	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E2425V(1)		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)			ATGGGCGGACTCAGACTGTTC	0.597000									Ichthyosis				211	277					0	0	0.003610	0	0
GJC1	10052	broad.mit.edu	37	17	42882388	42882388	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:42882388C>A	ENST00000426548.1	-	3	1067	c.798G>T	c.(796-798)agG>agT	p.R266S	GJC1_ENST00000330514.4_Missense_Mutation_p.R266S|GJC1_ENST00000592524.1_Missense_Mutation_p.R266S|GJC1_ENST00000590758.1_Missense_Mutation_p.R266S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	266					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		p.R266S(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CAAGTTCCCTCCTTTTACTGT	0.433000													20	190					8.10497e-08	1.02123e-07	0.010504	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	20					0.00116845	0.00130982	0.001168	1	0
SORCS3	22986	broad.mit.edu	37	10	106907472	106907472	+	Missense_Mutation	SNP	G	G	T	rs147155519		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:106907472G>T	ENST00000369701.3	+	9	1627	c.1400G>T	c.(1399-1401)cGt>cTt	p.R467L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	467						integral to membrane	neuropeptide receptor activity	p.R467L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGACACGCGTGGGATTTAC	0.453000													26	74					4.87955e-14	7.14911e-14	0.005443	1	0
ELF3	1999	broad.mit.edu	37	1	201980419	201980419	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:201980419A>G	ENST00000359651.3	+	1	3347	c.155A>G	c.(154-156)gAg>gGg	p.E52G	ELF3_ENST00000367283.3_Missense_Mutation_p.E52G|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Missense_Mutation_p.E52G			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	52	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E52G(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						ATGTCATTGGAGGGTACAGGT	0.607000													3	118					0	0	0.004672	0	0
NRAP	4892	broad.mit.edu	37	10	115381717	115381717	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:115381717C>A	ENST00000369358.4	-	24	2948	c.2704G>T	c.(2704-2706)Ggc>Tgc	p.G902C	NRAP_ENST00000360478.3_Missense_Mutation_p.G859C|NRAP_ENST00000369360.3_Missense_Mutation_p.G867C|NRAP_ENST00000359988.3_Missense_Mutation_p.G894C			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	894						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.G894C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTCTTGTAGCCTACGTCTGTG	0.522000													41	99					5.2432e-18	8.21696e-18	0.003610	1	0
ELF4	2000	broad.mit.edu	37	X	129206319	129206319	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chrX:129206319G>A	ENST00000308167.5	-	5	793	c.414C>T	c.(412-414)gcC>gcT	p.A138A	ELF4_ENST00000335997.7_Silent_p.A138A	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	138	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A138A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CGGGCTCAGAGGCAGGAAACA	0.577000			T	ERG	AML								25	73					0	0	0.005443	0	0
GPR115	221393	broad.mit.edu	37	6	47675979	47675979	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:47675979G>T	ENST00000283303.2	+	3	371	c.113G>T	c.(112-114)aGc>aTc	p.S38I	GPR115_ENST00000327753.3_Missense_Mutation_p.S38I|GPR115_ENST00000371220.1_Missense_Mutation_p.S95I	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	38					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S38I(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAACTTCAAAGCCCTGAAGGG	0.438000													21	36					5.35356e-11	7.5622e-11	0.002780	1	0
ACTN1	87	broad.mit.edu	37	14	69347566	69347566	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:69347566C>A	ENST00000193403.6	-	17	2477	c.2094G>T	c.(2092-2094)gcG>gcT	p.A698A	ACTN1_ENST00000538545.2_Silent_p.A698A|ACTN1_ENST00000394419.4_Silent_p.A698A|ACTN1_ENST00000438964.2_Silent_p.A698A|ACTN1_ENST00000376839.3_Silent_p.A633A	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	698	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	p.A698A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGAAGATGAGCGCCTCCTGGA	0.582000													58	107					1.08141e-31	1.98048e-31	0.003610	1	0
ITLN1	55600	broad.mit.edu	37	1	160851995	160851995	+	Splice_Site	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:160851995C>A	ENST00000326245.3	-	4	273		c.e4-1			NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)						positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACAGGCCATCTGTAGAGAGA	0.557000													14	81					2.35188e-11	3.36747e-11	0.006122	1	0
DMRT1	1761	broad.mit.edu	37	9	893993	893993	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:893993C>A	ENST00000382276.3	+	3	769	c.620C>A	c.(619-621)tCc>tAc	p.S207Y	DMRT1_ENST00000569227.1_Missense_Mutation_p.S49Y	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	207					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.S207Y(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GTTTCAGACTCCACCTACTAC	0.488000											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	85					5.73435e-26	1.00351e-25	0.003610	1	0
BMP7	655	broad.mit.edu	37	20	55803316	55803316	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:55803316C>A	ENST00000395863.3	-	2	1085	c.580G>T	c.(580-582)Gtt>Ttt	p.V194F	BMP7_ENST00000395864.3_Missense_Mutation_p.V194F|BMP7_ENST00000450594.2_Missense_Mutation_p.V194F	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	194					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	p.V194F(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ACCTGATAAACGCTGATCCGG	0.562000													63	198					1.17004e-41	2.22027e-41	0.003610	1	0
CENPF	1063	broad.mit.edu	37	1	214820057	214820057	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:214820057G>A	ENST00000366955.3	+	13	7312	c.7144G>A	c.(7144-7146)Ggt>Agt	p.G2382S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2478	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.G2382S(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGTCTGAGAGGTCTGGAATT	0.373000													14	67					0	0	0.002450	0	0
ADH1B	125	broad.mit.edu	37	4	100239267	100239267	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:100239267A>T	ENST00000305046.8	-	3	262	c.195T>A	c.(193-195)atT>atA	p.I65I	ADH1B_ENST00000394887.3_Silent_p.I25I|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	65					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.I65I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATGGCCTAAAATCACAGGAA	0.517000													37	166					0	0	0.007835	0	0
OR14I1	401994	broad.mit.edu	37	1	248844837	248844837	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:248844837C>A	ENST00000342623.3	-	1	792	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A257S(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GGTCCTAAGGCAGCAAAGAGC	0.478000													42	129					1.23713e-20	1.98824e-20	0.003610	1	0
GPN2	54707	broad.mit.edu	37	1	27212601	27212601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:27212601C>A	ENST00000374135.4	-	3	792	c.592G>T	c.(592-594)Gag>Tag	p.E198*	GPN2_ENST00000461282.1_5'UTR|GPN2_ENST00000374133.3_Nonsense_Mutation_p.E19*	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	198							GTP binding	p.E198*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						TCCAGAACCTCTGTGTAGTAG	0.502000													14	54					2.48551e-13	3.60799e-13	0.004990	1	0
OR11H6	122748	broad.mit.edu	37	14	20692480	20692480	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:20692480A>T	ENST00000315519.2	+	1	690	c.612A>T	c.(610-612)gcA>gcT	p.A204A		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A204A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CATTGTTTGCACTGGCCTGCA	0.493000													18	43					0	0	0.002299	0	0
FBXL4	26235	broad.mit.edu	37	6	99323305	99323305	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:99323305T>G	ENST00000369244.2	-	9	2116	c.1688A>C	c.(1687-1689)cAg>cCg	p.Q563P	FBXL4_ENST00000229971.1_Missense_Mutation_p.Q563P			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	563					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		p.Q563P(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TATGTCCAGCTGCTGTAACCT	0.353000													16	70					0	0	0.002299	0	0
MAATS1	89876	broad.mit.edu	37	3	119445030	119445030	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:119445030C>T	ENST00000273390.5	+	7	772	c.695C>T	c.(694-696)cCa>cTa	p.P232L		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1									p.P232L(1)									CGGGGTCTCCCAGCAGGACAA	0.547000													20	20					0	0	0.002780	0	0
OR5W2	390148	broad.mit.edu	37	11	55681593	55681593	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:55681593C>G	ENST00000344514.1	-	1	465	c.466G>C	c.(466-468)Gct>Cct	p.A156P		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A156P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTATCAAAGCATCTGCTATT	0.448000													22	123					0	0	0.003330	0	0
NOX5	79400	broad.mit.edu	37	15	69327818	69327818	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:69327818T>A	ENST00000260364.5	+	7	1227	c.926T>A	c.(925-927)gTg>gAg	p.V309E	NOX5_ENST00000530406.2_Missense_Mutation_p.V299E|NOX5_ENST00000448182.3_Missense_Mutation_p.V281E|NOX5_ENST00000455873.3_Missense_Mutation_p.V292E|NOX5_ENST00000388866.3_Missense_Mutation_p.V327E			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	327	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.V309E(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGTCCCTCGTGCACACCGTG	0.612000													7	55					0	0	0.004482	0	0
ASXL3	80816	broad.mit.edu	37	18	31319575	31319575	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr18:31319575T>C	ENST00000269197.5	+	11	2207	c.2207T>C	c.(2206-2208)cTc>cCc	p.L736P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	736	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.L736P(1)|p.L443P(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCATGCTTCTCACCTCTGAG	0.413000													120	351					0	0	0.003610	0	0
IDS	3423	broad.mit.edu	37	X	148577945	148577945	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chrX:148577945T>C	ENST00000340855.6	-	6	1020	c.811A>G	c.(811-813)Agg>Ggg	p.R271G	IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370441.4_Missense_Mutation_p.R271G|IDS_ENST00000370443.4_Missense_Mutation_p.R271G|IDS_ENST00000541269.1_Missense_Mutation_p.R60G	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	271						lysosome	iduronate-2-sulfatase activity|metal ion binding	p.R271G(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCCGTTGCCTGATGTCCATC	0.527000													4	167					0	0	0.000602	0	0
NTRK1	4914	broad.mit.edu	37	1	156837896	156837896	+	Splice_Site	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:156837896G>T	ENST00000368196.3	+	5	549	c.428_splice	c.e5-1	p.L143_splice	NTRK1_ENST00000358660.3_Splice_Site_p.L143_splice|NTRK1_ENST00000524377.1_Splice_Site_p.L143_splice|NTRK1_ENST00000392302.2_Splice_Site_p.L113_splice	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	143					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TGCCCCCCAGGGTCCTGTCGG	0.627000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			56	91					1.31171e-36	2.4449e-36	0.003610	1	0
TEP1	7011	broad.mit.edu	37	14	20857777	20857777	+	Silent	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:20857777T>A	ENST00000262715.5	-	16	2497	c.2457A>T	c.(2455-2457)gtA>gtT	p.V819V	TEP1_ENST00000556935.1_Silent_p.V711V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	819					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V819V(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACAGGTATTGTACCCTTCTTA	0.473000													36	84					0	0	0.006999	0	0
BLID	414899	broad.mit.edu	37	11	121986476	121986476	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:121986476C>G	ENST00000560104.1	-	1	447	c.155G>C	c.(154-156)gGt>gCt	p.G52A		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	52					apoptosis	mitochondrion		p.G52A(1)		NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		TTTGTTGGAACCCAAGAGCGC	0.498000											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	151					0	0	0.008740	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195006	18195006	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:18195006T>C	ENST00000314254.3	+	1	623	c.203T>C	c.(202-204)cTg>cCg	p.L68P	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	68						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L68P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCTCAACCTGGCCGCAGCA	0.527000													29	59					0	0	0.010818	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													4	48					0	0	0.000602	0	0
MYPN	84665	broad.mit.edu	37	10	69933835	69933835	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:69933835G>C	ENST00000358913.5	+	11	2474	c.1986G>C	c.(1984-1986)caG>caC	p.Q662H	MYPN_ENST00000354393.2_Missense_Mutation_p.Q387H|MYPN_ENST00000540630.1_Missense_Mutation_p.Q662H	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	662	Interaction with NEB.					nucleus|sarcomere	actin binding	p.Q662H(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATTCCACTCAGTTACAACAGC	0.403000													50	148					0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55826582	55826582	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:55826582G>A	ENST00000373965.2	-	19	2570	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	PCDH15_ENST00000437009.1_Missense_Mutation_p.P648S|PCDH15_ENST00000395438.1_Missense_Mutation_p.P719S|PCDH15_ENST00000395430.1_Missense_Mutation_p.P719S|PCDH15_ENST00000373957.3_Missense_Mutation_p.P697S|PCDH15_ENST00000361849.3_Missense_Mutation_p.P719S|PCDH15_ENST00000414778.1_Missense_Mutation_p.P724S|PCDH15_ENST00000395433.1_Missense_Mutation_p.P697S|PCDH15_ENST00000320301.6_Missense_Mutation_p.P719S|PCDH15_ENST00000395445.1_Missense_Mutation_p.P726S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P682S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P330S|PCDH15_ENST00000373955.1_Missense_Mutation_p.P719S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	719	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P719S(2)|p.P724S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCAGATAAGGATCAAACACT	0.373000										HNSCC(58;0.16)			33	100					0	0	0.002836	0	0
FREM1	158326	broad.mit.edu	37	9	14746969	14746969	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:14746969C>A	ENST00000380881.4	-	35	6908	c.6093G>T	c.(6091-6093)ctG>ctT	p.L2031L	FREM1_ENST00000422223.2_Silent_p.L2030L|FREM1_ENST00000380894.1_Silent_p.L566L|FREM1_ENST00000380880.3_Silent_p.L2030L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2030					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.L2031L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCACTGATACAGCTTCTGGA	0.493000													10	36					1.58986e-06	1.94867e-06	0.008291	1	0
PPP1R26	9858	broad.mit.edu	37	9	138376778	138376778	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:138376778T>C	ENST00000356818.2	+	4	971	c.422T>C	c.(421-423)cTg>cCg	p.L141P	PPP1R26_ENST00000604351.1_Missense_Mutation_p.L141P|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.L141P|PPP1R26_ENST00000605660.1_Missense_Mutation_p.L141P|PPP1R26_ENST00000401470.3_Missense_Mutation_p.L141P	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	141						nucleolus	protein binding	p.L141P(1)									CAGGAGTACCTGAAGGCAAAG	0.627000													9	74					0	0	0.001855	0	0
PIAS3	10401	broad.mit.edu	37	1	145580564	145580564	+	Silent	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:145580564A>G	ENST00000393045.2	+	7	954	c.864A>G	c.(862-864)aaA>aaG	p.K288K	PIAS3_ENST00000369298.1_Silent_p.K253K|PIAS3_ENST00000369299.3_3'UTR	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	288					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.K279K(1)|p.K288K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCTACAAAAACTCAGAGCAA	0.512000													13	67					0	0	0.003163	0	0
IGLV7-43	28776	broad.mit.edu	37	22	22749706	22749706	+	RNA	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr22:22749706C>A	ENST00000390298.2	+	0	264																											AACAAACACTCCTGGACCCCT	0.557000													9	52					0.000442599	0.000499709	0.006214	1	0
RFPL2	10739	broad.mit.edu	37	22	32587072	32587072	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr22:32587072C>A	ENST00000400236.3	-	5	1759	c.554G>T	c.(553-555)gGa>gTa	p.G185V	RFPL2_ENST00000248980.4_Missense_Mutation_p.G214V|RFPL2_ENST00000248983.4_Missense_Mutation_p.G185V|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Missense_Mutation_p.G275V	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	275	B30.2/SPRY.						zinc ion binding	p.G185V(1)|p.G214V(1)|p.G275V(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						AGTCCAGAATCCAAGCTCTGT	0.572000													21	75					8.24728e-16	1.24899e-15	0.004656	1	0
COPG1	22820	broad.mit.edu	37	3	128971533	128971533	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:128971533A>G	ENST00000314797.6	+	4	343	c.239A>G	c.(238-240)aAt>aGt	p.N80S		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	80					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.N80S(1)									TTTCAGTCCAATGATGTAAGT	0.562000													51	64					0	0	0.003610	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123177335	123177335	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:123177335C>A	ENST00000349780.4	-	28	4459	c.4280G>T	c.(4279-4281)gGa>gTa	p.G1427V	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.G1395V|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.G1386V|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.G1427V	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1427					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.G1427V(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAATTCAGATCCTTGCCGTTC	0.408000													21	147					1.87028e-06	2.28348e-06	0.001882	1	0
FAHD2A	51011	broad.mit.edu	37	2	96078209	96078209	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:96078209G>T	ENST00000233379.4	+	6	866	c.713G>T	c.(712-714)cGa>cTa	p.R238L	FAHD2A_ENST00000447036.1_Missense_Mutation_p.R238L	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	238							hydrolase activity|metal ion binding	p.R238L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						ATCTGCTGCCGAGTGAATGGG	0.498000													30	98					2.08457e-15	3.12685e-15	0.010818	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33561189	33561189	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:33561189A>T	ENST00000504830.1	-	20	4403	c.4068T>A	c.(4066-4068)ccT>ccA	p.P1356P	ADAMTS12_ENST00000352040.3_Silent_p.P1271P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1356	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1356P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATCTTTTTGCAGGGTCAGGTC	0.567000										HNSCC(64;0.19)			39	143					0	0	0.010771	0	0
ELMOD1	55531	broad.mit.edu	37	11	107501260	107501260	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:107501260G>T	ENST00000265840.7	+	3	400	c.135G>T	c.(133-135)aaG>aaT	p.K45N	ELMOD1_ENST00000443271.2_Missense_Mutation_p.K45N|ELMOD1_ENST00000531234.1_Missense_Mutation_p.K39N	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	45					phagocytosis	cytoskeleton	GTPase activator activity	p.K45N(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATAATACCAAGCCGGGAGCTT	0.408000													5	19					4.096e-09	5.39849e-09	0.001168	1	0
CACNA1S	779	broad.mit.edu	37	1	201035434	201035434	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:201035434T>A	ENST00000362061.3	-	21	2894	c.2668A>T	c.(2668-2670)Atc>Ttc	p.I890F	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I890F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	890					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.I890F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACCACGGAGATGGCACTGGAC	0.657000													22	75					0	0	0.003954	0	0
TIMD4	91937	broad.mit.edu	37	5	156378554	156378554	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:156378554C>T	ENST00000274532.2	-	3	704	c.648G>A	c.(646-648)gaG>gaA	p.E216E	TIMD4_ENST00000407087.3_Silent_p.E216E	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	216						integral to membrane		p.E216E(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTTAGAAGGCTCGGGAGTCA	0.532000													26	91					0	0	0.012213	0	0
CNIH3	149111	broad.mit.edu	37	1	224927039	224927039	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:224927039A>T	ENST00000272133.3	+	6	1346	c.464A>T	c.(463-465)tAc>tTc	p.Y155F		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	155					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		p.Y155F(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		AGCATGATCTACACTTTAGTG	0.468000													16	91					0	0	0.004007	0	0
ZNF280D	54816	broad.mit.edu	37	15	56923982	56923982	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:56923982C>G	ENST00000559237.1	-	21	3298	c.2615G>C	c.(2614-2616)cGa>cCa	p.R872P	ZNF280D_ENST00000267807.7_Missense_Mutation_p.R885P	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R885P(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGATGCTAATCGCAAATCCTT	0.343000													9	78					0	0	0.004482	0	0
LSR	51599	broad.mit.edu	37	19	35757268	35757268	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:35757268C>T	ENST00000602122.1	+	5	1359	c.872C>T	c.(871-873)gCc>gTc	p.A291V	LSR_ENST00000361790.3_Missense_Mutation_p.A310V|LSR_ENST00000427250.1_Missense_Mutation_p.A154V|LSR_ENST00000347609.4_Missense_Mutation_p.A273V|LSR_ENST00000354900.3_Missense_Mutation_p.A291V|LSR_ENST00000360798.3_Missense_Mutation_p.A242V			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	310	Cys-rich.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	p.A310V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACAGTGTATGCCGCCGGCAAA	0.617000													4	105					0	0	0.009096	0	0
DIP2A	23181	broad.mit.edu	37	21	47904726	47904726	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr21:47904726A>C	ENST00000318711.7	+	2	331	c.148A>C	c.(148-150)Ata>Cta	p.I50L	DIP2A_ENST00000435722.3_Missense_Mutation_p.I50L|DIP2A_ENST00000417564.2_Missense_Mutation_p.I50L|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000466639.1_Missense_Mutation_p.I50L|DIP2A_ENST00000400274.1_Missense_Mutation_p.I50L|DIP2A_ENST00000457905.3_Missense_Mutation_p.I50L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	50					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.I50L(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGCACGTTATATACCGCTTAT	0.308000													3	8					0	0	0.009096	0	0
DNAH9	1770	broad.mit.edu	37	17	11583119	11583119	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:11583119A>T	ENST00000262442.3	+	18	3467	c.3399A>T	c.(3397-3399)ttA>ttT	p.L1133F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1133F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1133	Stem (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	p.L1133F(1)		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)		AGAGCGGCTTACTCAAGAAAG	0.433000													37	128					0	0	0.006230	0	0
USF2	7392	broad.mit.edu	37	19	35761708	35761708	+	Splice_Site	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:35761708C>T	ENST00000222305.3	+	6	705	c.668_splice	c.e6+1	p.P223_splice	USF2_ENST00000594064.1_Splice_Site_p.P221_splice|USF2_ENST00000595068.1_Splice_Site_p.P223_splice|USF2_ENST00000343550.5_Splice_Site_p.P156_splice|USF2_ENST00000379134.3_Splice_Site_p.P92_splice	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	223					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.P223L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTTACTCTCCGTATGTGCAG	0.572000													32	94					0	0	0.003271	0	0
SV2A	9900	broad.mit.edu	37	1	149882197	149882197	+	Silent	SNP	G	G	A	rs148163632	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:149882197G>A	ENST00000369146.3	-	5	1504	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	SV2A_ENST00000369145.1_Silent_p.L338L	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	338					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.L338L(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGCGCAGACGAGGACGAAGA	0.582000													5	45					0	0	0.000602	0	0
SYNE3	161176	broad.mit.edu	37	14	95910832	95910832	+	Nonsense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:95910832G>C	ENST00000334258.5	-	9	1780	c.1766C>G	c.(1765-1767)tCa>tGa	p.S589*	SYNE3_ENST00000553340.1_Nonsense_Mutation_p.S589*|SYNE3_ENST00000554873.1_Nonsense_Mutation_p.S346*|SYNE3_ENST00000557275.1_Nonsense_Mutation_p.S589*	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.S589*(3)		breast(1)|endometrium(2)|lung(25)	28						CTGCAACCTTGAGAGCTGGGC	0.602000													24	35					0	0	0.007291	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													3	68					0	0	0.004672	0	0
F11	2160	broad.mit.edu	37	4	187208902	187208902	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:187208902G>C	ENST00000264692.4	+	14	1818	c.1485G>C	c.(1483-1485)aaG>aaC	p.K495N	F11_ENST00000403665.2_Missense_Mutation_p.K547N|RP11-215A19.1_ENST00000505103.1_RNA			P03951	FA11_HUMAN	coagulation factor XI	547	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.K547N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGTGCCAGAAGAGATACAGAG	0.413000													14	111					0	0	0.004990	0	0
TBCD	6904	broad.mit.edu	37	17	80828189	80828189	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:80828189G>T	ENST00000355528.4	+	14	1538	c.1408G>T	c.(1408-1410)Gtg>Ttg	p.V470L	TBCD_ENST00000397466.2_Missense_Mutation_p.V84L|TBCD_ENST00000539345.2_Missense_Mutation_p.V470L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	470					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.V470L(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CGCCTGCTACGTGTGCTGGGC	0.632000													9	34					4.36969e-10	5.90752e-10	0.001855	1	0
CYP4B1	1580	broad.mit.edu	37	1	47284377	47284378	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:47284377_47284378delTC	ENST00000271153.4	+	12	1463_1464	c.1427_1428delTC	c.(1426-1428)tfs	p.F476fs	CYP4B1_ENST00000452782.2_Frame_Shift_Del_p.F314fs|CYP4B1_ENST00000371919.4_Frame_Shift_Del_p.F462fs|CYP4B1_ENST00000371923.4_Frame_Shift_Del_p.F477fs			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	476					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CGCTTTGAGTTCTCTCTGGACC	0.564													27	184	---	---	---	---					
COG2	22796	broad.mit.edu	37	1	230804530	230804530	+	Splice_Site	DEL	G	G	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:230804530delG	ENST00000534989.1	+	6	752	c.417_splice	c.e6+1	p.P139_splice	COG2_ENST00000535166.1_Splice_Site_p.P82_splice|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000366668.3_Splice_Site_p.P198_splice|COG2_ENST00000366669.4_Splice_Site_p.P198_splice			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	198					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AAGTAAGACCGGTAAGTGTTG	0.368													38	212	---	---	---	---					
KLHL18	23276	broad.mit.edu	37	3	47374692	47374692	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:47374692delA	ENST00000232766.5	+	5	666	c.646delA	c.(646-648)ggfs	p.R216fs	KLHL18_ENST00000455924.2_Frame_Shift_Del_p.R104fs	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	216	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCGGGAGCAGAGGGGTCCCTA	0.592													32	78	---	---	---	---					
HES1	3280	broad.mit.edu	37	3	193855908	193855908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:193855908delT	ENST00000232424.3	+	4	965	c.729delT	c.(727-729)ccfs	p.P243fs		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	243	Pro-rich.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		ACAGCGGCCCTGTCATCCCCG	0.652													18	37	---	---	---	---					
CABS1	85438	broad.mit.edu	37	4	71200872	71200872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:71200872delC	ENST00000273936.4	+	1	175	c.116delC	c.(115-117)aafs	p.T40fs		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	40						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAATCAGAAACAACTATTACT	0.378													31	122	---	---	---	---					
IQGAP2	10788	broad.mit.edu	37	5	75993856	75993857	+	Frame_Shift_Ins	INS	-	-	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:75993856_75993857insT	ENST00000274364.6	+	33	4548_4549	c.4251_4252insT	c.(4249-4254)gatggcfs	p.G1418fs	IQGAP2_ENST00000379730.3_Frame_Shift_Ins_p.G920fs|IQGAP2_ENST00000396234.3_Frame_Shift_Ins_p.G914fs|IQGAP2_ENST00000502745.1_Frame_Shift_Ins_p.G914fs|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1418					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAAAGCTGAATTGGCAAAACT	0.337													8	55	---	---	---	---					
LOC100507283	100507283	broad.mit.edu	37	11	124701946	124701949	+	RNA	DEL	TCTC	TCTC	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:124701946_124701949delTCTC	ENST00000499143.2	+	0	1284																											tttctttctttctctctttctttc	0.373													4	3	---	---	---	---					
AMER2	219287	broad.mit.edu	37	13	25744101	25744101	+	Frame_Shift_Del	DEL	C	C	-	rs147191374		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr13:25744101delC	ENST00000357816.2	-	3	1775	c.1300delG	c.(1300-1302)acfs	p.D434fs	AMER2_ENST00000381853.3_Frame_Shift_Del_p.D434fs|AMER2_ENST00000515384.1_Frame_Shift_Del_p.D553fs					APC membrane recruitment protein 2																		TAGAGCGCGTCCCCGCTGTAG	0.637													34	62	---	---	---	---					
ZFYVE26	23503	broad.mit.edu	37	14	68250146	68250146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:68250146delC	ENST00000347230.4	-	21	3861	c.3723delG	c.(3721-3723)cgfs	p.R1241fs	ZFYVE26_ENST00000555452.1_Frame_Shift_Del_p.R1241fs	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1241					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTGGCTTTGCCGGGATGAGC	0.597													43	170	---	---	---	---					
IGHD	3495	broad.mit.edu	37	14	106306923	106306923	+	RNA	DEL	G	G	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:106306923delG	ENST00000390556.2	-	0	904																											GGAGGATGTTGGGGGGCGAGA	0.667													5	11	---	---	---	---					
SBNO2	22904	broad.mit.edu	37	19	1123583	1123597	+	In_Frame_Del	DEL	GCCTCCTCCTCCTCA	GCCTCCTCCTCCTCA	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:1123583_1123597delGCCTCCTCCTCCTCA	ENST00000361757.3	-	7	801_815	c.564_578delTGAGGAGGAGGAGGC	c.(562-579)gcg>gc	p.AEEEEA188del	SBNO2_ENST00000438103.2_In_Frame_Del_p.AEEEEA131del|SBNO2_ENST00000587024.1_In_Frame_Del_p.AEEEEA188del	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	188	Poly-Glu.				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGctcctccgcctcctcctcctcagcctcgtcct	0.674													12	24	---	---	---	---					
SIRPB1	10326	broad.mit.edu	37	20	1559269	1559269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:1559269delC	ENST00000381605.4	-	2	212	c.148delG	c.(148-150)ccfs	p.A50fs	SIRPB1_ENST00000262929.5_Frame_Shift_Del_p.A49fs|RP4-576H24.4_ENST00000564763.1_Frame_Shift_Del_p.A50fs|SIRPB1_ENST00000381603.3_Frame_Shift_Del_p.A50fs	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	50	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CGCAGAGTGGCCGACTCTCCA	0.532													34	126	---	---	---	---					
