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
CPZ	8532	broad.mit.edu	37	4	8616222	8616222	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr4:8616222G>T	ENST00000429646.2	+	7	3117	c.324G>T	c.(322-324)gaG>gaT	p.E108D	CPZ_ENST00000360986.4_Missense_Mutation_p.E500D|CPZ_ENST00000382480.2_Missense_Mutation_p.E363D|CPZ_ENST00000315782.6_Missense_Mutation_p.E489D			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	500	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E500D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATTTCGTGGAGACGGTGAGTT	0.617000													5	21					2.7689e-08	4.18884e-08	0.029380	1	0
OR14A16	284532	broad.mit.edu	37	1	247978955	247978955	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:247978955G>A	ENST00000357627.1	-	1	76	c.77C>T	c.(76-78)tCg>tTg	p.S26L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S26L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GAAGAGAATCGAATGCAAAAT	0.393000													3	37					0	0	0.115264	0	0
SATB2	23314	broad.mit.edu	37	2	200245208	200245208	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:200245208C>A	ENST00000443023.1	-	4	1764	c.299G>T	c.(298-300)tGt>tTt	p.C100F	SATB2_ENST00000457245.1_Missense_Mutation_p.C159F|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000417098.1_Missense_Mutation_p.C159F|SATB2_ENST00000260926.5_Missense_Mutation_p.C159F|SATB2_ENST00000428695.1_Intron			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	159						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.C159F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAACTTTGAACAACTGCAAAA	0.493000													5	41					3.59834e-05	4.77083e-05	0.217242	1	0
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	A	rs121913240		TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr12:25380276T>A	ENST00000311936.3	-	3	373	c.182A>T	c.(181-183)cAa>cTa	p.Q61L	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61L	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61L(73)|p.Q61R(56)|p.Q61P(12)	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)			GTACTCCTCTTGACCTGCTGT	0.418000	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	36					0	0	0.029380	0	0
FAM71B	153745	broad.mit.edu	37	5	156592944	156592944	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr5:156592944G>T	ENST00000302938.4	-	1	331	c.236C>A	c.(235-237)cCc>cAc	p.P79H		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	79						nucleus		p.P79H(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGGAGGATGGGGCTGGTGCA	0.512000													4	95					0.184627	0.189444	0.184627	1	0
LOC220729	220729	broad.mit.edu	37	3	197346668	197346668	+	RNA	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:197346668C>A	ENST00000418868.1	-	0	776					NR_003266.2																						GTCCTCTATGCACAGTGCAAT	0.413000													13	33					1.02788e-11	1.67297e-11	0.160694	1	0
IMPG2	50939	broad.mit.edu	37	3	100961629	100961629	+	Silent	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:100961629G>A	ENST00000193391.7	-	14	3112	c.2925C>T	c.(2923-2925)gtC>gtT	p.V975V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	975	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.V975V(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCGCATTGTTGACGTTAGGAG	0.423000													24	94					0	0	0.099896	0	0
NAIF1	203245	broad.mit.edu	37	9	130825794	130825794	+	Silent	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr9:130825794G>A	ENST00000373078.4	-	2	1116	c.897C>T	c.(895-897)taC>taT	p.Y299Y	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	299					apoptosis|induction of apoptosis	nucleus		p.Y299Y(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCTCTGCAGGTAGCGGCGGA	0.657000													21	91					0	0	0.069288	0	0
OCA2	4948	broad.mit.edu	37	15	28116372	28116372	+	Silent	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:28116372G>T	ENST00000354638.3	-	21	2327	c.2172C>A	c.(2170-2172)gcC>gcA	p.A724A	OCA2_ENST00000353809.5_Silent_p.A700A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	724			A -> P (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.A724A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCAGGACAATGGCGGCTATGA	0.592000									Oculocutaneous Albinism				4	43					0.014758	0.0163516	0.184627	1	0
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	RNA	SNP	C	C	T	rs111700178	by1000genomes	TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr5:1593264C>T	ENST00000436493.2	-	0	361																											AGGGCACATGCCTGACCAAAG	0.557000													5	26					0	0	0.217242	0	0
LPHN1	22859	broad.mit.edu	37	19	14274115	14274115	+	Silent	SNP	A	A	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:14274115A>C	ENST00000340736.6	-	6	810	c.513T>G	c.(511-513)ggT>ggG	p.G171G	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G166G|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	171	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.G171G(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGATGCGGTCACCCGCCTGCA	0.652000													8	18					0	0	0.105934	0	0
THSD7A	221981	broad.mit.edu	37	7	11630124	11630124	+	Silent	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:11630124G>A	ENST00000423059.3	-	4	1667	c.1416C>T	c.(1414-1416)aaC>aaT	p.N472N		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	472	TSP type-1 4.					integral to membrane		p.N472N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTGAGAGGAGGTTTTCGTTGG	0.517000										HNSCC(18;0.044)			8	37					0	0	0.038147	0	0
TNR	7143	broad.mit.edu	37	1	175355195	175355195	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:175355195C>A	ENST00000367674.1	-	8	2458	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	TNR_ENST00000263525.2_Missense_Mutation_p.D584Y	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	584	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.D584Y(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)					GTGGCAGAATCGCTCTCGTTG	0.632000													30	63					3.57733e-08	5.37739e-08	0.144211	1	0
TTC5	91875	broad.mit.edu	37	14	20767602	20767602	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr14:20767602C>A	ENST00000258821.3	-	4	458	c.402G>T	c.(400-402)agG>agT	p.R134S		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	134					DNA repair	cytoplasm|nucleus	binding	p.R134S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGACTTTGTTCCTGCACTGCA	0.448000													7	42					0.000442599	0.000544028	0.058154	1	0
GLIPR1	11010	broad.mit.edu	37	12	75875650	75875650	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr12:75875650T>A	ENST00000266659.3	+	2	412	c.211T>A	c.(211-213)Tgg>Agg	p.W71R		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	71					cellular lipid metabolic process	extracellular region|integral to membrane		p.W71R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TGCAAAAGCATGGGCCAGCAA	0.478000													24	86					0	0	0.083992	0	0
HECW2	57520	broad.mit.edu	37	2	197297866	197297866	+	Silent	SNP	A	A	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:197297866A>C	ENST00000260983.2	-	2	464	c.282T>G	c.(280-282)ctT>ctG	p.L94L		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	94					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.L94L(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTATATGATAAAGTCCAATCC	0.423000													11	33					0	0	0.080935	0	0
VPS13D	55187	broad.mit.edu	37	1	12343685	12343685	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:12343685C>G	ENST00000358136.3	+	21	5656	c.5526C>G	c.(5524-5526)caC>caG	p.H1842Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.H1842Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1842					protein localization			p.H1842Q(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGACAACCACGCAATGAGGC	0.488000													13	75					0	0	0.105934	0	0
OR2T34	127068	broad.mit.edu	37	1	248737762	248737762	+	Silent	SNP	C	C	T	rs144472277	byFrequency	TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:248737762C>T	ENST00000328782.2	-	1	318	c.297G>A	c.(295-297)ccG>ccA	p.P99P		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P99P(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	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;0.0265)			CACAGCCTGACGGGGAAATGG	0.552000													3	51					0	0	0.184627	0	0
PRKAG3	53632	broad.mit.edu	37	2	219689061	219689061	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:219689061G>T	ENST00000439262.2	-	12	1257	c.1162C>A	c.(1162-1164)Ctg>Atg	p.L388M	PRKAG3_ENST00000529249.1_Missense_Mutation_p.L413M|PRKAG3_ENST00000545803.1_Missense_Mutation_p.L229M	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	413	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	p.L413M(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCATGTCCAGGTGGTTGTAG	0.592000													8	38					1.26484e-09	1.99002e-09	0.038147	1	0
DUOX2	50506	broad.mit.edu	37	15	45399643	45399643	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:45399643C>A	ENST00000389039.6	-	14	1978	c.1593G>T	c.(1591-1593)gaG>gaT	p.E531D	DUOX2_ENST00000603300.1_Missense_Mutation_p.E531D			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	531	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.E531D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGTCTTCAATCTCCTTCTTGG	0.552000													12	58					0.00010058	0.00012971	0.093190	1	0
ARID4A	5926	broad.mit.edu	37	14	58814512	58814512	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr14:58814512A>T	ENST00000355431.3	+	15	1693	c.1320A>T	c.(1318-1320)ttA>ttT	p.L440F	ARID4A_ENST00000395168.3_Missense_Mutation_p.L440F|ARID4A_ENST00000348476.3_Missense_Mutation_p.L440F|ARID4A_ENST00000431317.2_Missense_Mutation_p.L440F	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	440					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.L440F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAATGCCTTTAACAGAAGTGA	0.348000													8	52					0	0	0.047766	0	0
APOH	350	broad.mit.edu	37	17	64210617	64210617	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr17:64210617A>T	ENST00000205948.6	-	7	973	c.936T>A	c.(934-936)gaT>gaA	p.D312E		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	312	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	p.D312E(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TACACTGAGCATCCTCTGTAT	0.393000													27	95					0	0	0.116897	0	0
PALD1	27143	broad.mit.edu	37	10	72299432	72299432	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr10:72299432G>A	ENST00000263563.6	+	15	2090	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.E608K(1)									TACCATGCAGGAGGTCTTCAG	0.662000													16	46					0	0	0.132662	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618441	77618441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr8:77618441C>A	ENST00000521891.2	+	2	2566	c.2118C>A	c.(2116-2118)taC>taA	p.Y706*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Y706*|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Y706*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Y706*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	706						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y706*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTGTAACTACTCTACCACTA	0.478000										HNSCC(33;0.089)			7	31					0.0293803	0.0318062	0.029380	1	0
OR5B2	390190	broad.mit.edu	37	11	58190310	58190310	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr11:58190310A>T	ENST00000302581.2	-	1	476	c.425T>A	c.(424-426)cTg>cAg	p.L142Q		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L142Q(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCTAGGGCCAGACAGGCACC	0.488000													8	37					0	0	0.047766	0	0
SAMD9	54809	broad.mit.edu	37	7	92734862	92734862	+	Silent	SNP	A	A	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:92734862A>G	ENST00000379958.2	-	3	818	c.549T>C	c.(547-549)ccT>ccC	p.P183P		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	183						cytoplasm		p.P183P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCCTGTTTCAGGCTGTAGAC	0.393000													3	143					0	0	0.184627	0	0
ZFP64	55734	broad.mit.edu	37	20	50769536	50769536	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr20:50769536T>A	ENST00000216923.4	-	6	1544	c.1195A>T	c.(1195-1197)Aag>Tag	p.K399*	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Nonsense_Mutation_p.K397*|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Nonsense_Mutation_p.K345*	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K399*(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCTCAGTCTTAACCATGTCC	0.557000													19	88					0	0	0.204396	0	0
RYR3	6263	broad.mit.edu	37	15	33893671	33893671	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:33893671G>T	ENST00000389232.4	+	17	1910	c.1840G>T	c.(1840-1842)Gcc>Tcc	p.A614S	RYR3_ENST00000415757.3_Missense_Mutation_p.A614S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	614	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A614S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCAGTGAGAGCCAACCAGAA	0.547000													3	20					0.115264	0.120899	0.115264	1	0
RP1	6101	broad.mit.edu	37	8	55537899	55537899	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr8:55537899G>T	ENST00000220676.1	+	4	1605	c.1457G>T	c.(1456-1458)aGt>aTt	p.S486I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	486					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S486I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTTCATATAGTGAAGAAAGG	0.373000													14	41					0.000219431	0.000279923	0.119110	1	0
GCC1	79571	broad.mit.edu	37	7	127224378	127224378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:127224378C>A	ENST00000321407.2	-	1	1283	c.859G>T	c.(859-861)Gga>Tga	p.G287*	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	287						Golgi membrane|plasma membrane	protein binding	p.G287*(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGTTCAAATCCTTCCATCTGT	0.557000											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	33					0.0293803	0.0318062	0.029380	1	0
MLH3	27030	broad.mit.edu	37	14	75515969	75515969	+	Silent	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr14:75515969C>A	ENST00000355774.2	-	2	605	c.390G>T	c.(388-390)ctG>ctT	p.L130L	MLH3_ENST00000556740.1_Silent_p.L130L|MLH3_ENST00000556257.1_Silent_p.L130L|MLH3_ENST00000238662.7_Silent_p.L130L|MLH3_ENST00000380968.2_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	130					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.L130L(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CACAAGCTTTCAGGGCTTTTC	0.433000								Mismatch excision repair (MMR)					4	88					0.00024832	0.000313388	0.150653	1	0
ANO7	50636	broad.mit.edu	37	2	242149716	242149716	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:242149716G>T	ENST00000274979.8	+	14	1631	c.1528G>T	c.(1528-1530)Gtg>Ttg	p.V510L	ANO7_ENST00000402430.3_Missense_Mutation_p.V509L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	510						cell junction|chloride channel complex|cytosol	chloride channel activity	p.V510L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCAGGTGGCCGTGGTGGTCAT	0.647000													16	45					9.16793e-09	1.40496e-08	0.160694	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147869451	147869451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:147869451C>A	ENST00000361727.3	+	18	3407	c.2891C>A	c.(2890-2892)tCg>tAg	p.S964*	CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.S23*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	964	EGF-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.S964*(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCGGATGCTCGGGCCATTGC	0.507000										HNSCC(39;0.1)			10	47					0.0692343	0.0742695	0.069234	1	0
SCN5A	6331	broad.mit.edu	37	3	38595835	38595835	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:38595835C>G	ENST00000413689.1	-	27	4941	c.4748G>C	c.(4747-4749)cGc>cCc	p.R1583P	SCN5A_ENST00000414099.2_Missense_Mutation_p.R1565P|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1529P|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1583P|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1529P|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1529P|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1582P|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1565P|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1582P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1583					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.R1583P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTAGTAGTGGCGCAGGGCAGC	0.512000													3	50					0	0	0.115264	0	0
SORCS3	22986	broad.mit.edu	37	10	107016648	107016648	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr10:107016648G>C	ENST00000369701.3	+	25	3636	c.3409G>C	c.(3409-3411)Ggc>Cgc	p.G1137R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1137						integral to membrane	neuropeptide receptor activity	p.G1137R(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)		GGTATTTGTTGGCCTGGCTGT	0.418000													3	27					0	0	0.115264	0	0
TIAM1	7074	broad.mit.edu	37	21	32617938	32617938	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr21:32617938C>A	ENST00000286827.3	-	7	1921	c.1450G>T	c.(1450-1452)Ggg>Tgg	p.G484W	TIAM1_ENST00000541036.1_Missense_Mutation_p.G484W|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	484	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.G484W(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGGTCTATCCCAGACCTGCCG	0.532000													3	27					0.115264	0.120899	0.115264	1	0
IGSF10	285313	broad.mit.edu	37	3	151171189	151171189	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:151171189C>A	ENST00000282466.3	-	3	697	c.698G>T	c.(697-699)tGg>tTg	p.W233L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	233	LRRCT.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.W233L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCCTGTATCCAGTCAGACAA	0.438000													26	69					1.17739e-12	1.97067e-12	0.108266	1	0
KRT74	121391	broad.mit.edu	37	12	52964528	52964528	+	Silent	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr12:52964528G>T	ENST00000549343.1	-	5	971	c.933C>A	c.(931-933)atC>atA	p.I311I	KRT74_ENST00000305620.2_Silent_p.I311I			Q7RTS7	K2C74_HUMAN	keratin 74	311	Coil 2.|Rod.					keratin filament	structural molecule activity	p.I311I(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGACCTCAGCGATGATGCTGT	0.582000													10	40					7.48243e-07	1.04488e-06	0.058154	1	0
ASB15	142685	broad.mit.edu	37	7	123268939	123268939	+	Silent	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:123268939A>T	ENST00000451558.1	+	12	1412	c.891A>T	c.(889-891)ccA>ccT	p.P297P	ASB15_ENST00000434204.1_Silent_p.P297P|ASB15_ENST00000451215.1_Silent_p.P297P|ASB15_ENST00000540573.1_Silent_p.P297P|ASB15_ENST00000275699.3_Silent_p.P297P			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	297					intracellular signal transduction			p.P297P(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATCTTATCCCAGTAACATCTA	0.343000													9	28					0	0	0.069234	0	0
DSG1	1828	broad.mit.edu	37	18	28906921	28906921	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr18:28906921G>A	ENST00000257192.4	+	3	381	c.169G>A	c.(169-171)Gcc>Acc	p.A57T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	57	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.A57T(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTTCGCAGCAGCCTGTCGTGA	0.398000													9	43					0	0	0.058154	0	0
GFPT2	9945	broad.mit.edu	37	5	179739458	179739458	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr5:179739458C>A	ENST00000253778.8	-	15	1687	c.1518G>T	c.(1516-1518)gaG>gaT	p.E506D		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	506					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.E506D(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CACGGATGATCTCTTGCCTCC	0.428000													22	40					5.26018e-13	8.86716e-13	0.234183	1	0
OTOGL	283310	broad.mit.edu	37	12	80764456	80764456	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr12:80764456C>T	ENST00000458043.2	+	55	6701	c.6695C>T	c.(6694-6696)aCt>aTt	p.T2232I	OTOGL_ENST00000546620.1_Missense_Mutation_p.T251I|OTOGL_ENST00000547103.1_Missense_Mutation_p.T2220I	NM_173591.3	NP_775862.3			otogelin-like									p.T2232I(1)|p.T597I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTAATGAGACTGAATGCAAA	0.308000													9	58					0	0	0.058154	0	0
JAG2	3714	broad.mit.edu	37	14	105622114	105622114	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr14:105622114C>A	ENST00000331782.3	-	4	1091	c.688G>T	c.(688-690)Gcc>Tcc	p.A230S	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.A230S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	230	DSL.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	p.A230S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCATGCAGGCCTTGTTGCCG	0.662000													5	26					0.00116845	0.00137191	0.217242	1	0
KCNQ4	9132	broad.mit.edu	37	1	41284241	41284241	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:41284241C>T	ENST00000347132.5	+	4	679	c.597C>T	c.(595-597)gcC>gcT	p.A199A	KCNQ4_ENST00000509682.2_Silent_p.A199A	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	199					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		p.A199A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			ACATCTTCGCCACGTCCGCGC	0.687000													3	35					0	0	0.115264	0	0
F8	2157	broad.mit.edu	37	X	154159113	154159113	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chrX:154159113C>T	ENST00000360256.4	-	14	3152	c.2952G>A	c.(2950-2952)tcG>tcA	p.S984S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	984	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.S984S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTCTGTTGACGATACATTTT	0.363000													20	62					0	0	0.069288	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74324814	74324814	+	Silent	SNP	T	T	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr17:74324814T>A	ENST00000446526.3	-	7	1210	c.765A>T	c.(763-765)ccA>ccT	p.P255P	PRPSAP1_ENST00000324684.4_Silent_p.P152P	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	226					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	p.P226P(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ACTCCAGGCCTGGGTGCACAG	0.443000													5	20					0	0	0.047766	0	0
TMTC4	84899	broad.mit.edu	37	13	101278052	101278052	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr13:101278052C>A	ENST00000342624.5	-	14	1939	c.1681G>T	c.(1681-1683)Gct>Tct	p.A561S	TMTC4_ENST00000328767.5_Missense_Mutation_p.A431S|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.A542S	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	542						integral to membrane	binding	p.A561S(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATTTGAACAGCCAAAGACAGC	0.368000													11	53					2.27111e-07	3.28823e-07	0.093190	1	0
EEFSEC	60678	broad.mit.edu	37	3	128060612	128060612	+	Silent	SNP	G	G	A	rs143447496		TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:128060612G>A	ENST00000254730.6	+	5	1377	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	EEFSEC_ENST00000483457.1_Silent_p.T386T|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	441						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.T441T(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ACACCAACACGTGCCGGCTAG	0.612000													16	54					0	0	0.146539	0	0
OR5F1	338674	broad.mit.edu	37	11	55761523	55761523	+	Silent	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr11:55761523G>T	ENST00000278409.1	-	1	578	c.579C>A	c.(577-579)atC>atA	p.I193I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I193I(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTTCTTTCAGGATTGTGTCAG	0.443000													6	44					1.06961e-07	1.56788e-07	0.038147	1	0
RXRG	6258	broad.mit.edu	37	1	165397965	165397965	+	Silent	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:165397965G>T	ENST00000359842.5	-	2	590	c.288C>A	c.(286-288)ccC>ccA	p.P96P		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	96	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.P96P(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CCTGAGAGCTGGGTGGGGCAA	0.577000													3	33					0.115264	0.120899	0.115264	1	0
THSD7A	221981	broad.mit.edu	37	7	11487045	11487045	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:11487045G>T	ENST00000423059.3	-	12	2863	c.2612C>A	c.(2611-2613)aCt>aAt	p.T871N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	871						integral to membrane		p.T871N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTGCGACAAGTAATGGCTAA	0.453000										HNSCC(18;0.044)			3	7					0.115264	0.120899	0.115264	1	0
MMP20	9313	broad.mit.edu	37	11	102464254	102464254	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr11:102464254G>T	ENST00000260228.2	-	8	1175	c.1163C>A	c.(1162-1164)cCa>cAa	p.P388Q		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	388	Hemopexin-like 2.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.P388Q(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CACGTGCCTTGGAAATCCAAA	0.433000													12	50					2.68362e-12	4.4601e-12	0.093190	1	0
PPBP	5473	broad.mit.edu	37	4	74852992	74852992	+	Silent	SNP	A	A	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr4:74852992A>G	ENST00000296028.3	-	3	477	c.384T>C	c.(382-384)gaT>gaC	p.D128D		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	128					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	p.D128D(1)		breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GAACAAATTAATCAGCAGATT	0.398000													13	59					0	0	0.093190	0	0
FLNC	2318	broad.mit.edu	37	7	128485006	128485006	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:128485006C>A	ENST00000325888.8	+	21	3748	c.3487C>A	c.(3487-3489)Ccg>Acg	p.P1163T	FLNC_ENST00000346177.6_Missense_Mutation_p.P1163T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1163					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.P1163T(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						GGCCAGTGGACCGGGCCTGGA	0.632000													17	33					4.96729e-08	7.4195e-08	0.204396	1	0
ISM2	145501	broad.mit.edu	37	14	77951118	77951118	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr14:77951118G>T	ENST00000393684.3	-	3	413	c.22C>A	c.(22-24)Cct>Act	p.P8T	ISM2_ENST00000412904.1_Missense_Mutation_p.P96T|ISM2_ENST00000342219.4_Missense_Mutation_p.P96T|ISM2_ENST00000429906.1_Intron|ISM2_ENST00000493585.1_Missense_Mutation_p.P96T			Q6H9L7	ISM2_HUMAN	isthmin 2	96						extracellular region		p.P96T(1)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GTCCTGGGAGGGGTGGCGTTG	0.622000													12	31					1.05317e-09	1.67938e-09	0.119110	1	0
PTK7	5754	broad.mit.edu	37	6	43128496	43128496	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr6:43128496G>T	ENST00000230419.4	+	20	3311	c.3090G>T	c.(3088-3090)gaG>gaT	p.E1030D	PTK7_ENST00000349241.2_Missense_Mutation_p.E900D|PTK7_ENST00000481273.1_Missense_Mutation_p.E1038D|PTK7_ENST00000352931.2_Missense_Mutation_p.E974D|PTK7_ENST00000345201.2_Missense_Mutation_p.E990D	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	1030	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E1030D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTCAGCCCGAGGGCTGCCCTT	0.572000													9	27					0.00448238	0.0051602	0.047766	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38600929	38600929	+	Silent	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:38600929G>A	ENST00000222345.6	+	8	2705	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	732	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.A732A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCCTGGCGCGCTACCGTTCA	0.552000													8	64					0	0	0.047766	0	0
SVEP1	79987	broad.mit.edu	37	9	113173790	113173790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr9:113173790C>T	ENST00000401783.2	-	37	6537	c.6201G>A	c.(6199-6201)tgG>tgA	p.W2067*	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W2044*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2067	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.W2070*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGGGGGTACCCACTTGCCCT	0.493000													3	21					0	0	0.150653	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052129	9052129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr5:9052129C>A	ENST00000382496.5	-	20	3366	c.2701G>T	c.(2701-2703)Gag>Tag	p.E901*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	901	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.E901*(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCCGACCACTCCGACCAGCTC	0.577000													4	14					0.150653	0.15594	0.150653	1	0
CARD6	84674	broad.mit.edu	37	5	40853444	40853444	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr5:40853444C>T	ENST00000254691.5	+	3	2209	c.2010C>T	c.(2008-2010)tcC>tcT	p.S670S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	670					apoptosis|regulation of apoptosis	intracellular		p.S670S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTCAAGTTTCCTCTGGAGAAA	0.493000													35	103					0	0	0.214465	0	0
OR4B1	119765	broad.mit.edu	37	11	48238701	48238701	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr11:48238701G>T	ENST00000309562.2	+	1	358	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V114L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTTTTGATTGTGGTGATGGC	0.443000													21	98					3.51602e-12	5.80266e-12	0.204396	1	0
NPLOC4	55666	broad.mit.edu	37	17	79563247	79563247	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr17:79563247C>T	ENST00000374747.5	-	11	1144	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	NPLOC4_ENST00000539314.1_Missense_Mutation_p.E178K|NPLOC4_ENST00000331134.6_Missense_Mutation_p.E339K			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	339					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATGCACTCTTCTGAACTTAGG	0.413000													9	88					0	0	0.069234	0	0
ACPT	93650	broad.mit.edu	37	19	51298092	51298092	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:51298092C>T	ENST00000270593.1	+	10	1036	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	ACPT_ENST00000270594.3_Silent_p.L253L	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	346						integral to membrane	acid phosphatase activity	p.L346L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCACCTGCCCCTGCCTCTCAG	0.657000													23	153					0	0	0.083992	0	0
CASQ2	845	broad.mit.edu	37	1	116243867	116243867	+	Nonsense_Mutation	SNP	C	C	A	rs72554070		TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:116243867C>A	ENST00000261448.5	-	11	1434	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	CASQ2_ENST00000456138.2_Nonsense_Mutation_p.E328*	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	399	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.E399*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTGGGCTATtcatcatcatcg	0.413000													8	35					0.000274275	0.000344303	0.047766	1	0
HIPK3	10114	broad.mit.edu	37	11	33373699	33373699	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr11:33373699C>T	ENST00000303296.4	+	16	3364	c.3059C>T	c.(3058-3060)cCa>cTa	p.P1020L	HIPK3_ENST00000456517.1_Missense_Mutation_p.P999L|HIPK3_ENST00000525975.1_Missense_Mutation_p.P999L|HIPK3_ENST00000379016.3_Missense_Mutation_p.P999L	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1020					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.P1020L(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATATGCCAGCCATTAATAAAA	0.363000													21	115					0	0	0.234183	0	0
DDX11	1663	broad.mit.edu	37	12	31236811	31236811	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr12:31236811G>A	ENST00000251758.5	+	3	460	c.209G>A	c.(208-210)cGt>cAt	p.R70H	DDX11_ENST00000228264.6_Missense_Mutation_p.R44H|DDX11_ENST00000407793.2_Missense_Mutation_p.R70H|DDX11_ENST00000542838.1_Missense_Mutation_p.R70H|DDX11_ENST00000545668.1_Missense_Mutation_p.R70H|DDX11_ENST00000350437.4_Missense_Mutation_p.R70H			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	70	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.R70H(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAGAAGAAGCGTGAAGAAGAG	0.483000										Multiple Myeloma(12;0.14)			15	62					0	0	0.175082	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659389	176659389	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:176659389G>C	ENST00000367662.3	+	5	3418	c.2254G>C	c.(2254-2256)Gaa>Caa	p.E752Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E752Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	752	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E752Q(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGTGAAAGAGAATCCTGCAA	0.552000													16	131					0	0	0.175082	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31488202	31488202	+	Silent	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr16:31488202C>A	ENST00000394863.3	+	10	1120	c.990C>A	c.(988-990)ggC>ggA	p.G330G	TGFB1I1_ENST00000394858.2_Silent_p.G313G|TGFB1I1_ENST00000361773.3_Silent_p.G313G|TGFB1I1_ENST00000567607.1_Silent_p.G313G	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	330	LIM zinc-binding 2.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	p.G313G(1)|p.G330G(1)		lung(8)|upper_aerodigestive_tract(1)	9						AGCGCGAGGGCCGCCCCTACT	0.687000													5	17					0.184627	0.189444	0.184627	1	0
NLRP9	338321	broad.mit.edu	37	19	56244334	56244334	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:56244334C>T	ENST00000332836.2	-	2	890	c.863G>A	c.(862-864)cGg>cAg	p.R288Q		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	288	NACHT.					cytoplasm	ATP binding	p.R288Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTTGGATGCCGCAACATAAA	0.383000													10	52					0	0	0.058154	0	0
EPHB6	2051	broad.mit.edu	37	7	142563350	142563350	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:142563350G>T	ENST00000392957.2	+	8	1854	c.1067G>T	c.(1066-1068)cGg>cTg	p.R356L	EPHB6_ENST00000411471.2_Missense_Mutation_p.R79L|EPHB6_ENST00000442129.1_Missense_Mutation_p.R356L	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	356	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R341L(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCTTCTACCGGGCCAGTTCC	0.647000													6	12					5.9392e-07	8.44368e-07	0.217242	1	0
DHX38	9785	broad.mit.edu	37	16	72139923	72139923	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr16:72139923G>T	ENST00000268482.3	+	19	3016	c.2507G>T	c.(2506-2508)gGc>gTc	p.G836V	DHX38_ENST00000536867.1_Missense_Mutation_p.G148V	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	836	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.G836V(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCCAGGATTGGCATGGATGCT	0.592000													12	66					0.00244969	0.00283396	0.119110	1	0
ACSL1	2180	broad.mit.edu	37	4	185705147	185705147	+	Splice_Site	SNP	T	T	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr4:185705147T>C	ENST00000515030.1	-	4	636		c.e4-2		ACSL1_ENST00000504900.1_Splice_Site|ACSL1_ENST00000504342.1_Splice_Site|ACSL1_ENST00000454703.2_Splice_Site|ACSL1_ENST00000437665.3_Splice_Site|ACSL1_ENST00000281455.2_Splice_Site|ACSL1_ENST00000513317.1_Splice_Site|ACSL1_ENST00000507295.1_Splice_Site			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1						digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCCATTATCTAAAAAAAGAG	0.393000													11	80					0	0	0.080935	0	0
KIF24	347240	broad.mit.edu	37	9	34257577	34257577	+	Silent	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr9:34257577G>T	ENST00000379166.2	-	11	2147	c.2028C>A	c.(2026-2028)ggC>ggA	p.G676G	KIF24_ENST00000402558.2_Silent_p.G676G|KIF24_ENST00000379174.3_Silent_p.G542G|KIF24_ENST00000345050.2_Silent_p.G542G	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	676					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G676G(1)|p.G158G(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CAGTTTTGTTGCCCATTCGAT	0.522000													5	137					0.00116845	0.00137191	0.217242	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157198	26157198	+	Silent	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chrX:26157198G>T	ENST00000325250.1	+	2	283	c.96G>T	c.(94-96)gtG>gtT	p.V32V		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	32							protein binding	p.V32V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGGCCACTGTGGCAGAAGGAG	0.557000													4	14					0.217242	0.220988	0.217242	1	0
KCNK10	54207	broad.mit.edu	37	14	88729653	88729653	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr14:88729653C>T	ENST00000340700.5	-	2	731	c.280G>A	c.(280-282)Gag>Aag	p.E94K	KCNK10_ENST00000312350.5_Missense_Mutation_p.E99K|KCNK10_ENST00000319231.5_Missense_Mutation_p.E99K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	94					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.E99K(2)|p.E94K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AAGGGCTGCTCCAATGCCCGG	0.567000													10	45					0	0	0.058154	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993224	140993224	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chrX:140993224C>T	ENST00000285879.4	+	4	320	c.34C>T	c.(34-36)Ccg>Tcg	p.P12S	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	12							protein binding	p.P12S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGGATGCCGAGTCTTCT	0.542000										HNSCC(15;0.026)			6	68					0	0	0.029380	0	0
MDC1	9656	broad.mit.edu	37	6	30682849	30682849	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr6:30682849T>C	ENST00000376406.3	-	2	751	c.104A>G	c.(103-105)cAt>cGt	p.H35R	MDC1_ENST00000376405.2_Missense_Mutation_p.H35R	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	35	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.H35R(1)		breast(2)|kidney(1)|ovary(1)	4						ACTAAAGATATGTAGCCGCCC	0.458000								Other conserved DNA damage response genes					13	51					0	0	0.093190	0	0
NPAP1	23742	broad.mit.edu	37	15	24923058	24923058	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:24923058G>T	ENST00000329468.2	+	1	2518	c.2044G>T	c.(2044-2046)Gtg>Ttg	p.V682L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.V682L(1)									CTCCACTTTAGTGAACAGTGC	0.517000													26	136					8.24728e-16	1.45251e-15	0.099896	1	0
FIG4	9896	broad.mit.edu	37	6	110146400	110146400	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr6:110146400A>G	ENST00000230124.3	+	23	2780	c.2656A>G	c.(2656-2658)Atc>Gtc	p.I886V	FIG4_ENST00000441478.2_Missense_Mutation_p.I580V	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	886					cell death	endosome membrane	protein binding	p.I886V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CAGCCAAGGTATCATGCAGCC	0.517000													15	41					0	0	0.146539	0	0
PCNT	5116	broad.mit.edu	37	21	47746331	47746331	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr21:47746331C>G	ENST00000359568.5	+	2	202	c.95C>G	c.(94-96)tCg>tGg	p.S32W	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	32					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.S32W(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGTGACAGTTCGCATTCGGAG	0.483000													6	32					0	0	0.038147	0	0
SCCPDH	51097	broad.mit.edu	37	1	246930495	246930495	+	Splice_Site	SNP	A	A	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:246930495A>G	ENST00000366510.3	+	12	1560		c.e12-1			NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)							midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	p.?(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		ATTGTTTTATAGGGGCGGGGT	0.433000													4	25					0	0	0.150653	0	0
DLG1	1739	broad.mit.edu	37	3	196792237	196792237	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:196792237A>T	ENST00000346964.2	-	23	2571	c.2382T>A	c.(2380-2382)gaT>gaA	p.D794E	DLG1_ENST00000392382.2_Missense_Mutation_p.D739E|DLG1_ENST00000357674.4_Missense_Mutation_p.D761E|DLG1_ENST00000452595.1_Missense_Mutation_p.D656E|DLG1_ENST00000314062.3_Missense_Mutation_p.D721E|DLG1_ENST00000450955.1_Missense_Mutation_p.D761E|DLG1_ENST00000443183.1_Missense_Mutation_p.D668E|DLG1_ENST00000422288.1_Missense_Mutation_p.D721E|DLG1_ENST00000419354.1_Missense_Mutation_p.D772E|DLG1_ENST00000448528.2_Missense_Mutation_p.D772E	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	772	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	p.D794E(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTCCTGGATATCTTTTTCCA	0.353000													41	133					0	0	0.235728	0	0
VKORC1	79001	broad.mit.edu	37	16	31106838	31106838	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr16:31106838T>C	ENST00000498155.1	-	1	463	c.142A>G	c.(142-144)Atg>Gtg	p.M48V				Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TCAGGCACCATTCGGGCTGCA	0.582000													6	29					0	0	0.038147	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963500	39963500	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:39963500A>T	ENST00000599117.1	+	23	2453	c.2086A>T	c.(2086-2088)Agg>Tgg	p.R696W	SUPT5H_ENST00000432763.2_Missense_Mutation_p.R696W|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R692W|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R696W|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R692W			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	696					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	p.R696L(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGCATGAGCAGGGGCCGGGG	0.677000													5	21					0	0	0.217242	0	0
RP11-80F22.9	0	broad.mit.edu	37	16	34712326	34712326	+	RNA	SNP	C	C	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr16:34712326C>G	ENST00000569028.2	-	0	1028																											GTGGCTGAAACAAGCCAGTTC	0.552000													3	6					0	0	0.115264	0	0
RIMS4	140730	broad.mit.edu	37	20	43386385	43386385	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr20:43386385C>T	ENST00000372851.3	-	4	443	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.R127Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	126	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.R126Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CTGACCGTTCCGCTCCTGCAG	0.572000													16	68					0	0	0.175082	0	0
SPATA16	83893	broad.mit.edu	37	3	172835364	172835364	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:172835364C>A	ENST00000351008.3	-	2	341	c.158G>T	c.(157-159)gGt>gTt	p.G53V		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	53					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.G53V(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TACCTGTTTACCTCCACAGTT	0.388000													38	214					1.67305e-13	2.84057e-13	0.235728	1	0
FMN2	56776	broad.mit.edu	37	1	240370528	240370528	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:240370528A>T	ENST00000319653.9	+	5	2646	c.2416A>T	c.(2416-2418)Agc>Tgc	p.S806C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	806	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.S949C(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCCACACAGAGCATCTCACA	0.527000													16	46					0	0	0.204396	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													4	79					0	0	0.184627	0	0
MTUS2	23281	broad.mit.edu	37	13	29599523	29599523	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr13:29599523C>T	ENST00000431530.3	+	1	776	c.718C>T	c.(718-720)Cct>Tct	p.P240S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	230						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.P240S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCAGCTTTCCCTGCAACTGA	0.587000													3	19					0	0	0.150653	0	0
POLQ	10721	broad.mit.edu	37	3	121207346	121207346	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:121207346C>A	ENST00000264233.5	-	16	4560	c.4432G>T	c.(4432-4434)Gtt>Ttt	p.V1478F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1478					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.V1613F(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTTTCAGGAACTGGAAGACAT	0.343000								DNA polymerases (catalytic subunits)					13	54					2.27111e-07	3.28823e-07	0.093190	1	0
AVEN	57099	broad.mit.edu	37	15	34295296	34295296	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:34295296C>A	ENST00000306730.3	-	2	511	c.382G>T	c.(382-384)Gtc>Ttc	p.V128F	CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	128					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	p.V128F(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TCATTATTGACCTCTTTTTCA	0.403000													11	44					0.00010058	0.00012971	0.093190	1	0
GPR4	2828	broad.mit.edu	37	19	46094525	46094525	+	Silent	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:46094525C>A	ENST00000323040.4	-	2	1544	c.600G>T	c.(598-600)tcG>tcT	p.S200S	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	200						integral to plasma membrane	G-protein coupled receptor activity	p.S200S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TGCCCCGGTACGACAGCAGCA	0.647000													5	39					0.0293803	0.0318062	0.029380	1	0
GAS2	2620	broad.mit.edu	37	11	22696333	22696333	+	Translation_Start_Site	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr11:22696333G>A	ENST00000433790.1	+	0	15				GAS2_ENST00000533092.1_Intron|GAS2_ENST00000278187.3_Intron|GAS2_ENST00000454584.2_Intron	NM_005256.3	NP_005247.1	O43903	GAS2_HUMAN	growth arrest-specific 2						cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						ATAATGTCATGATGACAACAT	0.363000													7	11					0	0	0.029380	0	0
AOAH	313	broad.mit.edu	37	7	36571810	36571810	+	Silent	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:36571810G>T	ENST00000431169.1	-	18	1668	c.1368C>A	c.(1366-1368)gtC>gtA	p.V456V	AOAH_ENST00000538464.1_Silent_p.V178V|AOAH_ENST00000535891.1_Silent_p.V424V|AOAH_ENST00000258749.5_Silent_p.V456V|AOAH_ENST00000491444.1_5'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	456					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.V456V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGCAGGGGCTGACCTGAGAGC	0.517000													19	56					8.34094e-07	1.15792e-06	0.204396	1	0
MAT1A	4143	broad.mit.edu	37	10	82043758	82043758	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr10:82043758C>T	ENST00000372213.3	-	3	466	c.206G>A	c.(205-207)gGt>gAt	p.G69D		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	69					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.G69D(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGTGATCTCACCACACAGCAG	0.587000													6	20					0	0	0.217242	0	0
KRI1	65095	broad.mit.edu	37	19	10671747	10671747	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:10671747C>G	ENST00000312962.6	-	8	632	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Missense_Mutation_p.E201Q	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	205	Glu-rich.							p.E205Q(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TAGTCGGCCTCCTCCTGGGCC	0.602000													8	40					0	0	0.069234	0	0
ZIC4	84107	broad.mit.edu	37	3	147108811	147108811	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:147108811G>T	ENST00000383075.3	-	4	1423	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	ZIC4_ENST00000473123.1_Missense_Mutation_p.S304Y|ZIC4_ENST00000525172.2_Missense_Mutation_p.S354Y|ZIC4_ENST00000425731.3_Missense_Mutation_p.S342Y|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.S304Y|ZIC4_ENST00000491672.1_Missense_Mutation_p.S98Y	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	304						nucleus	DNA binding|zinc ion binding	p.S304Y(1)|p.S304F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CACGAGGGCAGACGGTGTAGC	0.682000													22	43					3.5997e-14	6.24654e-14	0.069288	1	0
BRDT	676	broad.mit.edu	37	1	92470776	92470776	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:92470776C>A	ENST00000370389.2	+	18	3400	c.2476C>A	c.(2476-2478)Caa>Aaa	p.Q826K	BRDT_ENST00000402388.1_Missense_Mutation_p.Q899K|BRDT_ENST00000399546.2_Missense_Mutation_p.Q899K|BRDT_ENST00000394530.3_Missense_Mutation_p.Q853K|BRDT_ENST00000362005.3_Missense_Mutation_p.Q899K	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	899					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.Q899K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATCAGAAGCTCAAGATAAATC	0.393000													14	76					6.31663e-08	9.37562e-08	0.132662	1	0
ATXN2L	11273	broad.mit.edu	37	16	28845864	28845864	+	Silent	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr16:28845864A>T	ENST00000336783.4	+	18	2450	c.2283A>T	c.(2281-2283)ccA>ccT	p.P761P	ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000570200.1_Silent_p.P761P|ATXN2L_ENST00000395547.2_Silent_p.P761P|ATXN2L_ENST00000382686.4_Silent_p.P761P|ATXN2L_ENST00000325215.6_Silent_p.P761P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Silent_p.P761P|ATXN2L_ENST00000564304.1_Silent_p.P767P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	761						membrane		p.P761P(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AACACCAGCCAGCCTCAGCCC	0.667000													19	114					0	0	0.219247	0	0
CASS4	57091	broad.mit.edu	37	20	55027579	55027579	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr20:55027579C>A	ENST00000371336.3	+	5	1548	c.1347C>A	c.(1345-1347)caC>caA	p.H449Q	CASS4_ENST00000360314.3_Missense_Mutation_p.H449Q|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	449					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.H449Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTCTGCAGCACAAGGTGGTCA	0.562000													5	19					0.014758	0.0163516	0.184627	1	0
GRIN3A	116443	broad.mit.edu	37	9	104432620	104432620	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr9:104432620G>A	ENST00000361820.3	-	3	2674	c.2074C>T	c.(2074-2076)Ctc>Ttc	p.L692F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	692					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.L692F(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TACAGAGTGAGGAAGACGGCA	0.493000													19	77					0	0	0.204396	0	0
SETD9	133383	broad.mit.edu	37	5	56210785	56210785	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr5:56210785C>G	ENST00000285947.2	+	5	1190	c.804C>G	c.(802-804)gaC>gaG	p.D268E	SETD9_ENST00000541720.1_Missense_Mutation_p.D268E|SETD9_ENST00000475908.1_3'UTR	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	268								p.D268E(1)									ACAGCTATGACAAACAAAGGT	0.353000													6	34					0	0	0.029380	0	0
ABCA13	154664	broad.mit.edu	37	7	48335365	48335365	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:48335365C>T	ENST00000435803.1	+	21	9048	c.9024C>T	c.(9022-9024)agC>agT	p.S3008S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3008					transport	integral to membrane	ATP binding|ATPase activity	p.S3008S(1)|p.S2953S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCTTTCTAGCACCTTGGAGA	0.458000													32	114					0	0	0.144211	0	0
TEX15	56154	broad.mit.edu	37	8	30702993	30702993	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr8:30702993C>A	ENST00000256246.2	-	1	3615	c.3541G>T	c.(3541-3543)Gat>Tat	p.D1181Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1181								p.D1181Y(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGTTTCTCATCTGAGTGGTCT	0.318000													7	30					8.12818e-05	0.00010657	0.029380	1	0
MAP3K7	6885	broad.mit.edu	37	6	91257770	91257770	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr6:91257770T>G	ENST00000369329.3	-	10	1237	c.1076A>C	c.(1075-1077)cAa>cCa	p.Q359P	MAP3K7_ENST00000369332.3_Missense_Mutation_p.Q359P|MAP3K7_ENST00000369327.3_Missense_Mutation_p.Q359P|MAP3K7_ENST00000369320.1_Missense_Mutation_p.Q40P|MAP3K7_ENST00000369325.3_Missense_Mutation_p.Q359P	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	359					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.Q359P(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACAAACCTGTTGCTTTGCCTG	0.299000													5	30					0	0	0.184627	0	0
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:100349878C>T	ENST00000542585.1	+	0	2298				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P717L(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507000													3	31					0	0	0.150653	0	0
ACCSL	390110	broad.mit.edu	37	11	44069816	44069816	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr11:44069816G>T	ENST00000378832.1	+	1	286	c.230G>T	c.(229-231)cGg>cTg	p.R77L		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	77							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.R77L(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTAATATGCCGGATGATCAAC	0.577000													16	77					3.52763e-06	4.81226e-06	0.160694	1	0
OR7E24	26648	broad.mit.edu	37	19	9361871	9361871	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:9361871C>A	ENST00000456448.1	+	1	266	c.152C>A	c.(151-153)tCc>tAc	p.S51Y		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51*(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CTGTTCCTGTCCATGTACCTG	0.572000													9	32					0.000442599	0.000544028	0.058154	1	0
POMT1	10585	broad.mit.edu	37	9	134382772	134382772	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr9:134382772C>T	ENST00000423007.1	+	5	740	c.298C>T	c.(298-300)Cct>Tct	p.P100S	POMT1_ENST00000372228.3_Missense_Mutation_p.P100S|POMT1_ENST00000354713.4_Missense_Mutation_p.P70S|POMT1_ENST00000402686.3_Missense_Mutation_p.P100S|POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000341012.7_Missense_Mutation_p.P46S	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	100					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	p.P100S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TAGCAACGTGCCTGTGTGGTC	0.562000													18	112					0	0	0.219247	0	0
ZNF479	90827	broad.mit.edu	37	7	57187759	57187759	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:57187759G>T	ENST00000331162.4	-	5	1633	c.1363C>A	c.(1363-1365)Cac>Aac	p.H455N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H455N(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATTCTCTTGTGGTCAGTGAGG	0.433000													27	105					1.2476e-16	2.24758e-16	0.116897	1	0
OVCH1	341350	broad.mit.edu	37	12	29648339	29648339	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr12:29648339C>T	ENST00000318184.5	-	4	332	c.333G>A	c.(331-333)caG>caA	p.Q111Q		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	111	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.Q111Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCTTATCCTTCTGAAAGAGGC	0.388000													9	46					0	0	0.047766	0	0
MEIS2	4212	broad.mit.edu	37	15	37184416	37184416	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:37184416A>T	ENST00000338564.5	-	13	1817	c.1371T>A	c.(1369-1371)gaT>gaA	p.D457E	MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.D457E|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.D464E|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000397624.3_3'UTR	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	464					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.D464E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CAACATTGGGATCTACAGAAT	0.478000													34	212					0	0	0.193644	0	0
MYH8	4626	broad.mit.edu	37	17	10315771	10315771	+	Silent	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr17:10315771G>T	ENST00000403437.2	-	14	1426	c.1332C>A	c.(1330-1332)acC>acA	p.T444T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	444	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.T444T(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTTGATGCGGGTGACCATCC	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				44	159					3.77016e-25	7.06157e-25	0.131918	1	0
SHROOM3	57619	broad.mit.edu	37	4	77660075	77660075	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr4:77660075G>T	ENST00000296043.6	+	5	1702	c.749G>T	c.(748-750)aGc>aTc	p.S250I	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	250					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.S249I(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GACCAGCTCAGCCACTTCCAT	0.582000													11	33					0.000151284	0.000194039	0.105934	1	0
GCC1	79571	broad.mit.edu	37	7	127222089	127222089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:127222089C>T	ENST00000321407.2	-	2	2731	c.2307G>A	c.(2305-2307)tgG>tgA	p.W769*		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	769						Golgi membrane|plasma membrane	protein binding	p.W769*(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGAAGGCCACCAGCTGGCAC	0.517000													4	94					0	0	0.150653	0	0
ZNF253	56242	broad.mit.edu	37	19	20003092	20003092	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:20003092G>T	ENST00000589717.1	+	4	1128	c.1036G>T	c.(1036-1038)Ggc>Tgc	p.G346C	ZNF253_ENST00000355650.4_Missense_Mutation_p.G270C	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	346				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G318C(1)|p.G346C(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAAGAATGTGGCAAAGCCTT	0.393000													5	40					0.000602214	0.000732591	0.184627	1	0
FAAH	2166	broad.mit.edu	37	1	46874210	46874210	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:46874210G>A	ENST00000243167.8	+	8	1115	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	344					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	p.R344Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GCCATGAGGCGGGCCGTGCTG	0.612000													53	202					0	0	0.139131	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743796	26743796	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr22:26743796C>A	ENST00000529632.2	+	11	2520	c.2324C>A	c.(2323-2325)cCc>cAc	p.P775H	SEZ6L_ENST00000343706.4_Missense_Mutation_p.P775H|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P775H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P775H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P775H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P548H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P548H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	775	Sushi 3.					endoplasmic reticulum membrane|integral to membrane		p.P775H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGTGTGACCCCGGCTATGAC	0.552000													11	40					2.80697e-09	4.38706e-09	0.080935	1	0
CYTH3	9265	broad.mit.edu	37	7	6213366	6213366	+	Splice_Site	SNP	T	T	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:6213366T>A	ENST00000350796.3	-	6	505		c.e6-2			NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3						regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AATTCATCCCTGGGAAAAAAA	0.353000													3	34					0	0	0.150653	0	0
SRCAP	10847	broad.mit.edu	37	16	30748494	30748494	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr16:30748494C>T	ENST00000262518.4	+	34	7518	c.7133C>T	c.(7132-7134)aCc>aTc	p.T2378I	SRCAP_ENST00000395059.2_Missense_Mutation_p.T2316I|SRCAP_ENST00000344771.4_Missense_Mutation_p.T2220I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2378					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.T2378I(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGTGGAGGCACCCACCGGCGC	0.652000													6	29					0	0	0.217242	0	0
GNAZ	2781	broad.mit.edu	37	22	23438412	23438412	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr22:23438412G>C	ENST00000248996.4	+	2	1196	c.530G>C	c.(529-531)cGc>cCc	p.R177P	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	177						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.R177P(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GACATCCTGCGCTCCCGGGAC	0.597000													16	49					0	0	0.160694	0	0
MSH6	2956	broad.mit.edu	37	2	48027461	48027461	+	Missense_Mutation	SNP	C	C	T	rs63749899		TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:48027461C>T	ENST00000234420.4	+	4	2491	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.A478V|MSH6_ENST00000540021.1_Missense_Mutation_p.A650V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	780					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.A780V(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGCTTTGTGCCCCACTCTGT	0.438000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				4	167					0	0	0.150653	0	0
COL7A1	1294	broad.mit.edu	37	3	48604563	48604563	+	Silent	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:48604563G>T	ENST00000328333.8	-	109	8214	c.8107C>A	c.(8107-8109)Cgg>Agg	p.R2703R	COL7A1_ENST00000454817.1_Silent_p.R2671R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2703	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R2703R(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAACTCACCCGCTCCCCTTTC	0.582000													15	56					4.7546e-09	7.38215e-09	0.146539	1	0
KCNH8	131096	broad.mit.edu	37	3	19479843	19479843	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:19479843G>T	ENST00000328405.2	+	8	1631	c.1365G>T	c.(1363-1365)atG>atT	p.M455I	KCNH8_ENST00000537696.1_Missense_Mutation_p.M96I	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	455						integral to membrane	two-component sensor activity	p.M455I(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCTGCACCATGCTGATTGGTG	0.458000													8	18					5.18039e-06	7.02628e-06	0.038147	1	0
ZNF536	9745	broad.mit.edu	37	19	30936248	30936248	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:30936248C>T	ENST00000355537.3	+	2	1926	c.1779C>T	c.(1777-1779)gaC>gaT	p.D593D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D593D(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCAGAGAGACCTGCCAAGTA	0.512000													16	79					0	0	0.175082	0	0
XIST	7503	broad.mit.edu	37	X	73070089	73070089	+	RNA	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chrX:73070089G>T	ENST00000429829.1	-	0	2499					NR_001564.2																						CATTAGAAATGATTTGACTTT	0.279000													3	8					0.115264	0.120899	0.115264	1	0
TEX14	56155	broad.mit.edu	37	17	56679854	56679854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr17:56679854G>T	ENST00000389934.3	-	12	1551	c.1434C>A	c.(1432-1434)taC>taA	p.Y478*	TEX14_ENST00000240361.8_Nonsense_Mutation_p.Y484*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.Y478*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	484	Protein kinase.					cytoplasm	ATP binding|protein kinase activity	p.Y478*(1)|p.Y484*(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAATATCATAGTAAGGTTTCG	0.428000													17	55					0.000958276	0.00114798	0.189662	1	0
RNF19A	25897	broad.mit.edu	37	8	101276266	101276266	+	Silent	SNP	A	A	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr8:101276266A>C	ENST00000519449.1	-	8	1780	c.1464T>G	c.(1462-1464)gcT>gcG	p.A488A	RNF19A_ENST00000523255.1_Intron|RNF19A_ENST00000341084.2_Silent_p.A488A	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	488					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	p.A488A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ACTTACCTACAGCTGTGTTAG	0.408000													14	68					0	0	0.119110	0	0
NTS	4922	broad.mit.edu	37	12	86272289	86272289	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr12:86272289T>A	ENST00000256010.6	+	3	409	c.302T>A	c.(301-303)aTg>aAg	p.M101K	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	101					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	p.M101K(1)		large_intestine(2)|lung(6)	8						TTGGAAGCAATGTTGACAATA	0.398000													13	59					0	0	0.105934	0	0
XIRP2	129446	broad.mit.edu	37	2	168102286	168102286	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:168102286G>T	ENST00000409195.1	+	9	4473	c.4384G>T	c.(4384-4386)Gat>Tat	p.D1462Y	XIRP2_ENST00000409273.1_Missense_Mutation_p.D1240Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1462Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1287					actin cytoskeleton organization	cell junction	actin binding	p.M1461_D1462>IY(1)|p.D1462N(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						CCACACTATGGATGAACTGAG	0.358000													4	38					0.014758	0.0163516	0.184627	1	0
CPED1	79974	broad.mit.edu	37	7	120704338	120704338	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:120704338G>C	ENST00000310396.5	+	5	1054	c.587G>C	c.(586-588)gGa>gCa	p.G196A	CPED1_ENST00000450913.2_Missense_Mutation_p.G196A|CPED1_ENST00000423795.1_5'UTR	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.G196A(1)									AGAAAGGAAGGATTATGTCAA	0.408000													6	50					0	0	0.029380	0	0
TLN2	83660	broad.mit.edu	37	15	63076138	63076138	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:63076138C>T	ENST00000472902.1	+	9	1217	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	TLN2_ENST00000561311.1_Intron|TLN2_ENST00000306829.6_Intron			Q9Y4G6	TLN2_HUMAN	talin 2	0	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CACACTGGTGCCCACTCCTGG	0.562000													4	36					0	0	0.217242	0	0
COL19A1	1310	broad.mit.edu	37	6	70851786	70851786	+	Splice_Site	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr6:70851786G>A	ENST00000322773.4	+	21	1586	c.1482_splice	c.e21-1	p.G495_splice	COL19A1_ENST00000393344.1_Splice_Site_p.G117_splice	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	495	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.G495E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TATTTACAGGGAGAACCTGGG	0.308000													10	38					0	0	0.080935	0	0
CSMD3	114788	broad.mit.edu	37	8	113241099	113241099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr8:113241099G>T	ENST00000297405.5	-	70	11094	c.10850C>A	c.(10849-10851)tCa>tAa	p.S3617*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3448*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3577*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3547*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3617						integral to membrane|plasma membrane		p.S3617*(1)|p.S3577*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAAGAATTTGAACCTTCTGA	0.279000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	33					0.00198382	0.00231773	0.029380	1	0
KDM8	79831	broad.mit.edu	37	16	27221911	27221911	+	Missense_Mutation	SNP	G	G	A	rs145879289	byFrequency	TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr16:27221911G>A	ENST00000286096.4	+	2	640	c.467G>A	c.(466-468)cGt>cAt	p.R156H	KDM8_ENST00000441782.2_Missense_Mutation_p.R194H|KDM8_ENST00000380948.2_Missense_Mutation_p.R156H|KDM8_ENST00000568965.1_Missense_Mutation_p.R156H	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	156					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R194H(1)|p.R156H(1)									AGGCCTGCCCGTGGCTCCCTC	0.577000													6	27					0	0	0.217242	0	0
XIRP2	129446	broad.mit.edu	37	2	168102285	168102285	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:168102285G>T	ENST00000409195.1	+	9	4472	c.4383G>T	c.(4381-4383)atG>atT	p.M1461I	XIRP2_ENST00000409273.1_Missense_Mutation_p.M1239I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M1461I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1286					actin cytoskeleton organization	cell junction	actin binding	p.M1461_D1462>IY(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						CCCACACTATGGATGAACTGA	0.358000													3	40					0.150653	0.15594	0.150653	1	0
SEMG1	6406	broad.mit.edu	37	20	43835719	43835719	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr20:43835719C>T	ENST00000372781.3	+	1	82	c.25C>T	c.(25-27)Ctt>Ttt	p.L9F	SEMG1_ENST00000244069.6_Missense_Mutation_p.L9F	NM_003007.3	NP_002998.1			semenogelin I									p.L9F(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATCTTTGTACTTTCCCTGCT	0.478000													11	60					0	0	0.105934	0	0
CD33	945	broad.mit.edu	37	19	51728785	51728785	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:51728785T>G	ENST00000262262.4	+	2	370	c.349T>G	c.(349-351)Ttc>Gtc	p.F117V	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.F117V	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	117	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.F117V(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGGTTCATACTTCTTTCGGAT	0.537000													6	57					0	0	0.217242	0	0
HDAC2	3066	broad.mit.edu	37	6	114262225	114262225	+	Silent	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr6:114262225G>A	ENST00000519065.1	-	14	1840	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	HDAC2_ENST00000368632.2_Silent_p.P458P|HDAC2_ENST00000398283.2_Silent_p.P582P|HDAC2_ENST00000519108.1_Silent_p.P458P			Q92769	HDAC2_HUMAN	histone deacetylase 2	488					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.P488P(1)|p.P582P(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GTCAAATTCAGGGGTTGCTGA	0.313000													12	27					0	0	0.093190	0	0
DOLPP1	57171	broad.mit.edu	37	9	131847496	131847496	+	Silent	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr9:131847496A>T	ENST00000372546.4	+	4	305	c.273A>T	c.(271-273)acA>acT	p.T91T	DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Silent_p.T91T	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	91					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	p.T91T(1)		endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GCCCCCACACAGCAGTGGGCA	0.582000													11	68					0	0	0.069234	0	0
PPDPF	79144	broad.mit.edu	37	20	62153051	62153051	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr20:62153051G>T	ENST00000370179.3	+	4	360	c.164G>T	c.(163-165)tGg>tTg	p.W55L	PPDPF_ENST00000370177.1_Missense_Mutation_p.W81L|PPDPF_ENST00000473620.1_3'UTR	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	55					cell differentiation|multicellular organismal development			p.W55L(1)		kidney(1)|lung(2)|ovary(1)	4						GGTCATTGGTGGGCCAGCTTC	0.632000													9	46					1.36491e-13	2.3342e-13	0.105934	1	0
C10orf90	118611	broad.mit.edu	37	10	128149993	128149993	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr10:128149993G>T	ENST00000284694.7	-	5	1816	c.1696C>A	c.(1696-1698)Cct>Act	p.P566T	C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.P663T|C10orf90_ENST00000454341.1_Missense_Mutation_p.P469T|C10orf90_ENST00000356858.3_Missense_Mutation_p.P519T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	566								p.P566T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GATCTTGCAGGCGTTTGCTGA	0.587000													10	37					0.000673444	0.000810882	0.069234	1	0
CER1	9350	broad.mit.edu	37	9	14720224	14720224	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr9:14720224C>A	ENST00000380911.3	-	2	712	c.668G>T	c.(667-669)tGc>tTc	p.C223F		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	223	CTCK.				BMP signaling pathway	extracellular space	cytokine activity	p.C223F(1)		endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		AAGTTCAGTGCAGTTCAGTGG	0.552000													12	34					0.00010058	0.00012971	0.093190	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50474623	50474623	+	RNA	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:50474623C>A	ENST00000602139.1	+	0	980									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.L281M(1)|p.L319M(1)		endometrium(2)|kidney(2)|lung(6)	10						GCAGCGAGCCCTGGACCTCTC	0.667000													23	70					1.2476e-16	2.24758e-16	0.116897	1	0
DNER	92737	broad.mit.edu	37	2	230231656	230231656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:230231656C>A	ENST00000341772.4	-	12	2169	c.2035G>T	c.(2035-2037)Gag>Tag	p.E679*		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	679	Interaction with AP1G1 and somatodendritic targeting (By similarity).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.E679*(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTGTAGAACTCCTCATAGGCT	0.582000													8	36					0.0381472	0.0411084	0.038147	1	0
C10orf90	118611	broad.mit.edu	37	10	128193340	128193340	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr10:128193340C>T	ENST00000284694.7	-	3	549	c.429G>A	c.(427-429)acG>acA	p.T143T	C10orf90_ENST00000544758.1_Silent_p.T240T|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Silent_p.T143T|C10orf90_ENST00000392694.1_Silent_p.T96T|C10orf90_ENST00000356858.3_Silent_p.T96T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	143								p.T143T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CGCGTCTGGCCGTGATGGTGA	0.687000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	54					0	0	0.119110	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711971	140711971	+	Missense_Mutation	SNP	G	G	T	rs115926650	by1000genomes	TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr5:140711971G>T	ENST00000517417.1	+	1	1720	c.1720G>T	c.(1720-1722)Ggc>Tgc	p.G574C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G574C	NM_018912.2	NP_061735.1												p.G574C(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTCTACCGGCGTGGAGCT	0.662000													91	113					1.31458e-49	2.50194e-49	0.139131	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283870	151283870	+	RNA	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chrX:151283870C>A	ENST00000509345.2	-	0	466																		p.G48V(1)									CCCCAGGGTGCCTGGGACCAG	0.642000													29	24					8.16721e-17	1.49416e-16	0.153744	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102519086	102519086	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr5:102519086G>T	ENST00000321521.9	+	25	3647	c.3074G>T	c.(3073-3075)aGt>aTt	p.S1025I	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S1025I|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S1025I|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1025					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.S1025N(1)|p.S1025I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTCACATCCAGTATTTTTGGC	0.438000													10	57					3.07112e-06	4.21386e-06	0.080935	1	0
ZFP57	346171	broad.mit.edu	37	6	29640833	29640833	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr6:29640833G>T	ENST00000376883.1	-	6	1406	c.995C>A	c.(994-996)gCa>gAa	p.A332E	ZFP57_ENST00000376881.3_Missense_Mutation_p.A332E|ZFP57_ENST00000488757.1_Missense_Mutation_p.A352E			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	268					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.A332E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGTCACAGGTGCTTGGTTCTT	0.527000													23	108					2.98393e-07	4.29395e-07	0.076483	1	0
MTMR12	54545	broad.mit.edu	37	5	32230132	32230132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr5:32230132C>A	ENST00000382142.3	-	16	2166	c.1996G>T	c.(1996-1998)Gaa>Taa	p.E666*	MTMR12_ENST00000264934.5_Nonsense_Mutation_p.E556*|MTMR12_ENST00000280285.5_Nonsense_Mutation_p.E612*	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	666						cytoplasm	phosphatase activity	p.E666*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCATCATTTCCAAGAGTTTG	0.577000													23	154					8.24728e-16	1.45251e-15	0.099896	1	0
SUPT5H	6829	broad.mit.edu	37	19	39963501	39963501	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:39963501G>T	ENST00000599117.1	+	23	2454	c.2087G>T	c.(2086-2088)aGg>aTg	p.R696M	SUPT5H_ENST00000432763.2_Missense_Mutation_p.R696M|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R692M|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R696M|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R692M			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	696					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	p.R696L(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCATGAGCAGGGGCCGGGGC	0.682000													5	21					2.7689e-08	4.18884e-08	0.029380	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129110	248129110	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:248129110G>T	ENST00000366480.3	+	1	576	c.477G>T	c.(475-477)atG>atT	p.M159I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M159I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCTGCCTCATGGTTGCATGTG	0.418000													28	181					3.99451e-17	7.36487e-17	0.144211	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768002	31768002	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:31768002G>T	ENST00000240587.4	-	2	3024	c.2697C>A	c.(2695-2697)aaC>aaA	p.N899K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	899					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N899K(1)|p.N716K(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGCTGGGGGTTCCAGTTTG	0.632000													7	30					8.12818e-05	0.00010657	0.029380	1	0
GPR20	2843	broad.mit.edu	37	8	142367968	142367968	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr8:142367968G>A	ENST00000377741.3	-	2	146	c.56C>T	c.(55-57)gCa>gTa	p.A19V		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	19						integral to plasma membrane	G-protein coupled receptor activity	p.A19V(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TGTTGTCACTGCGGTGGCATT	0.677000													4	7					0	0	0.184627	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890975	32890975	+	RNA	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr16:32890975C>A	ENST00000330048.5	-	0	2991					NR_003083.2																						TCCCAAAAGGCCTGCCAGAGC	0.627000													12	49					7.03913e-09	1.08577e-08	0.093190	1	0
CCDC142	84865	broad.mit.edu	37	2	74708198	74708198	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:74708198G>A	ENST00000393965.3	-	4	1670	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V	CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Intron	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	425								p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GAGACCTAGGGCGACAGGCGC	0.542000													16	53					0	0	0.132662	0	0
AIMP1	9255	broad.mit.edu	37	4	107248721	107248721	+	Splice_Site	SNP	G	G	T	rs147151240		TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr4:107248721G>T	ENST00000394701.4	+	3	336	c.295_splice	c.e3+1	p.V99_splice	AIMP1_ENST00000358008.3_Splice_Site_p.V75_splice|AIMP1_ENST00000442366.1_Splice_Site_p.V75_splice	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	75	Interaction with HSP90B1 (By similarity).				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	p.V75L(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						TCAAAATGGAGGTAATTAAAT	0.348000													5	12					0.00116845	0.00137191	0.217242	1	0
DLL1	28514	broad.mit.edu	37	6	170599211	170599211	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr6:170599211G>T	ENST00000366756.3	-	1	350	c.17C>A	c.(16-18)gCg>gAg	p.A6E		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	6					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	p.A6E(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CAGGGCCAGCGCGCACCGACT	0.756000													8	28					1.12685e-05	1.51964e-05	0.047766	1	0
VEGFC	7424	broad.mit.edu	37	4	177649058	177649058	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr4:177649058C>A	ENST00000280193.2	-	3	841	c.426G>T	c.(424-426)aaG>aaT	p.K142N	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	142					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.K142N(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTCCAAACTCCTTCCCCACAT	0.473000													14	56					1.49906e-05	2.0101e-05	0.119110	1	0
OR2L13	284521	broad.mit.edu	37	1	248263034	248263034	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:248263034C>T	ENST00000366478.2	+	3	694	c.357C>T	c.(355-357)taC>taT	p.Y119Y	OR2L13_ENST00000358120.2_Silent_p.Y119Y	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.Y119Y(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CCATGGCCTACGACCGTTATT	0.512000													33	186					0	0	0.173368	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477421	25477421	+	RNA	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:25477421C>A	ENST00000453082.2	+	0	1643					NR_003343.1																						GTTCCCAGCCCCCGATGCGCT	0.622000													12	39					1.61879e-10	2.61668e-10	0.093190	1	0
TRPC6	7225	broad.mit.edu	37	11	101344259	101344259	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr11:101344259G>T	ENST00000344327.3	-	7	2414	c.1990C>A	c.(1990-1992)Caa>Aaa	p.Q664K	TRPC6_ENST00000532133.1_Missense_Mutation_p.Q586K|TRPC6_ENST00000360497.4_Missense_Mutation_p.Q609K|TRPC6_ENST00000348423.4_Missense_Mutation_p.Q548K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	664					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.Q664K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCTTCATTTTGTTTTGCACCA	0.328000													9	33					0.010729	0.0121151	0.080935	1	0
BRINP2	57795	broad.mit.edu	37	1	177247895	177247895	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:177247895G>T	ENST00000361539.4	+	7	1521	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		403						extracellular region		p.Q403H(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCCATCGCCAGCCTCGCTTCC	0.622000													11	68					3.07112e-06	4.21386e-06	0.080935	1	0
AQP12B	653437	broad.mit.edu	37	2	241621967	241621967	+	Silent	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:241621967C>A	ENST00000407834.3	-	1	350	c.288G>T	c.(286-288)gtG>gtT	p.V96V		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	84						integral to membrane	transporter activity	p.V96V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCTGCAGGGACACGGTGGGGT	0.692000													22	41					2.39556e-15	4.1878e-15	0.076483	1	0
FURIN	5045	broad.mit.edu	37	15	91424922	91424922	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:91424922C>T	ENST00000268171.3	+	16	2478	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	733					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.F733F(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCACTGTCTTCCTGGTCCTGC	0.647000													14	84					0	0	0.132662	0	0
EML2	24139	broad.mit.edu	37	19	46124786	46124786	+	Silent	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:46124786C>A	ENST00000536630.1	-	13	1530	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	EML2_ENST00000245925.3_Silent_p.R317R|EML2_ENST00000589876.1_Silent_p.R317R|EML2_ENST00000587152.1_Silent_p.R518R	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	317					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.R317R(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGAGGACCACCCGCCGATCAC	0.687000													13	35					0.00244969	0.00283396	0.119110	1	0
EIF2AK4	440275	broad.mit.edu	37	15	40265942	40265942	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:40265942G>A	ENST00000263791.5	+	11	1853	c.1810G>A	c.(1810-1812)Gtc>Atc	p.V604I	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.V604I|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.V604I	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	604	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	p.V604I(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTTTGGAGCTGTCATCAAGGT	0.428000													14	65					0	0	0.119110	0	0
BCL11A	53335	broad.mit.edu	37	2	60689438	60689438	+	Silent	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:60689438G>A	ENST00000335712.6	-	4	836	c.609C>T	c.(607-609)caC>caT	p.H203H	BCL11A_ENST00000358510.4_Silent_p.H169H|BCL11A_ENST00000538214.1_Silent_p.H169H|BCL11A_ENST00000537768.1_Silent_p.H51H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.H203H|BCL11A_ENST00000359629.5_Silent_p.H203H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	203	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.H203H(8)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGGACTTCCGTGTTCGCTTT	0.488000			T	IGH@	B-CLL								6	42					0	0	0.217242	0	0
TRAV18	28665	broad.mit.edu	37	14	22471786	22471786	+	RNA	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr14:22471786C>A	ENST00000390446.3	+	0	314																											CTGAAAAGTTCAGAAAACCAG	0.478000													6	35					0.0215528	0.0236579	0.217242	1	0
SENP5	205564	broad.mit.edu	37	3	196612677	196612677	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:196612677G>T	ENST00000323460.5	+	2	874	c.625G>T	c.(625-627)Ggg>Tgg	p.G209W	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.G209W	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	209					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	p.G209W(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CCACAGGAATGGGGGACCCTT	0.438000													15	50					3.41278e-10	5.47903e-10	0.160694	1	0
RP11-159L20.2	0	broad.mit.edu	37	14	31290814	31290814	+	RNA	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr14:31290814C>A	ENST00000554665.1	-	0	208																											CTGCCATGGGCAAGAAGAAGA	0.468000													10	18					7.48243e-07	1.04488e-06	0.058154	1	0
CLCN3	1182	broad.mit.edu	37	4	170610315	170610315	+	Silent	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr4:170610315A>T	ENST00000513761.1	+	5	1099	c.540A>T	c.(538-540)acA>acT	p.T180T	CLCN3_ENST00000360642.3_Silent_p.T180T|CLCN3_ENST00000347613.4_Silent_p.T180T|CLCN3_ENST00000504131.2_Silent_p.T163T	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	180					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	p.T180T(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATGAAACAACATTTGAAGAGA	0.423000													11	41					0	0	0.069234	0	0
HSPA6	3310	broad.mit.edu	37	1	161495342	161495342	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:161495342C>T	ENST00000309758.4	+	1	1307	c.894C>T	c.(892-894)tcC>tcT	p.S298S		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	298					response to unfolded protein		ATP binding	p.S298S(1)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCTACACGTCCATCACTCGTG	0.647000													3	22					0	0	0.115264	0	0
B3GNT6	192134	broad.mit.edu	37	11	76751142	76751142	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr11:76751142G>T	ENST00000533140.1	+	2	685	c.547G>T	c.(547-549)Ggc>Tgc	p.G183C	B3GNT6_ENST00000354301.5_Missense_Mutation_p.G183C|B3GNT6_ENST00000421061.1_Missense_Mutation_p.G94C			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	183					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	p.G183C(1)		central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GCGCGAGCACGGCGACGTGCT	0.726000													4	12					0.00909568	0.0103201	0.150653	1	0
OR1S2	219958	broad.mit.edu	37	11	57970805	57970805	+	Silent	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr11:57970805A>T	ENST00000302592.6	-	1	848	c.849T>A	c.(847-849)acT>acA	p.T283T		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T283T(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CAATCTTATCAGTGTCCTCAG	0.488000													14	92					0	0	0.119110	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696511	69696511	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr4:69696511G>T	ENST00000265403.7	+	6	1528	c.1501G>T	c.(1501-1503)Gca>Tca	p.A501S	UGT2B10_ENST00000458688.2_Missense_Mutation_p.A417S	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	501					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A501S(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGCTTGTGTGGCAACCGTGCT	0.448000													14	87					9.05144e-12	1.48343e-11	0.105934	1	0
SEZ6L	23544	broad.mit.edu	37	22	26688407	26688407	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr22:26688407C>G	ENST00000529632.2	+	2	326	c.130C>G	c.(130-132)Cct>Gct	p.P44A	SEZ6L_ENST00000343706.4_Missense_Mutation_p.P44A|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P44A|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P44A|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P44A|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	44						endoplasmic reticulum membrane|integral to membrane		p.P44A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCTTTGGGTCCTTACCTCCT	0.572000													5	39					0	0	0.217242	0	0
RIMS2	9699	broad.mit.edu	37	8	104943582	104943582	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr8:104943582G>C	ENST00000507740.1	+	9	1948	c.1712G>C	c.(1711-1713)aGg>aCg	p.R571T	RIMS2_ENST00000406091.3_Missense_Mutation_p.R779T|RIMS2_ENST00000436393.2_Missense_Mutation_p.R557T|RIMS2_ENST00000262231.10_Missense_Mutation_p.R618T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	841					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R571T(2)|p.R557T(1)|p.R846T(1)|p.R779T(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)			GGGAGGCCAAGGAATCCTTAT	0.343000										HNSCC(12;0.0054)			8	24					0	0	0.038147	0	0
MSH6	2956	broad.mit.edu	37	2	48033416	48033416	+	Silent	SNP	A	A	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:48033416A>G	ENST00000234420.4	+	8	3872	c.3720A>G	c.(3718-3720)aaA>aaG	p.K1240K	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Silent_p.K938K|MSH6_ENST00000540021.1_Silent_p.K1110K	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1240					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.K1240K(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGACTATAAAATGTCGTACAT	0.348000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	60					0	0	0.069234	0	0
SORCS1	114815	broad.mit.edu	37	10	108716302	108716302	+	Silent	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr10:108716302G>A	ENST00000263054.6	-	2	602	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	SORCS1_ENST00000344440.6_Silent_p.L199L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	199						integral to membrane	neuropeptide receptor activity|protein binding	p.L199L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGCTCCCCAGGTTATAGTCA	0.403000													6	47					0	0	0.029380	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456828	25456828	+	RNA	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:25456828C>A	ENST00000424208.1	+	0	2459				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GTGCTCAGCCCCTGGTGCACT	0.607000													8	30					3.09899e-07	4.43249e-07	0.047766	1	0
RTCB	51493	broad.mit.edu	37	22	32783990	32783990	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr22:32783990T>A	ENST00000216038.5	-	12	1605	c.1507A>T	c.(1507-1509)Atc>Ttc	p.I503F	RTCB_ENST00000451746.2_3'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.I503F(1)									TATCCTTTGATCACAGCAATT	0.488000													9	34					0	0	0.093190	0	0
C1orf141	400757	broad.mit.edu	37	1	67559199	67559199	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:67559199G>T	ENST00000371007.2	-	8	801	c.692C>A	c.(691-693)cCt>cAt	p.P231H	C1orf141_ENST00000544837.1_Missense_Mutation_p.P231H|C1orf141_ENST00000371006.1_Missense_Mutation_p.P231H	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	231								p.P231H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ATTTTCCAAAGGATGAGAAGA	0.279000													5	39					0.0215528	0.0236579	0.217242	1	0
RBM46	166863	broad.mit.edu	37	4	155720082	155720082	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr4:155720082C>A	ENST00000510397.1	+	4	947	c.768C>A	c.(766-768)ttC>ttA	p.F256L	RBM46_ENST00000281722.3_Missense_Mutation_p.F256L|RBM46_ENST00000514866.1_Missense_Mutation_p.F256L	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	256	RRM 3.						nucleotide binding|RNA binding	p.F256L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AAGCAGAATTCAATAAATTTA	0.373000													5	20					0.014758	0.0163516	0.184627	1	0
OR7E24	26648	broad.mit.edu	37	19	9361872	9361872	+	Silent	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:9361872C>A	ENST00000456448.1	+	1	267	c.153C>A	c.(151-153)tcC>tcA	p.S51S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51*(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGTTCCTGTCCATGTACCTGG	0.572000													9	32					0.000442599	0.000544028	0.058154	1	0
C22orf43	51233	broad.mit.edu	37	22	23964346	23964346	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr22:23964346G>T	ENST00000317749.5	-	4	613	c.316C>A	c.(316-318)Ctg>Atg	p.L106M		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	106								p.L106M(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						ACTAAACTCAGGTTGTCCTCA	0.453000													8	45					1.26484e-09	1.99002e-09	0.038147	1	0
GPR128	84873	broad.mit.edu	37	3	100373949	100373949	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:100373949G>T	ENST00000273352.3	+	12	1918	c.1650G>T	c.(1648-1650)caG>caT	p.Q550H	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.Q255H	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	550					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q550H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCGCTGCACAGCTCTATTACC	0.453000													21	97					7.87624e-14	1.35678e-13	0.076483	1	0
TNXB	7148	broad.mit.edu	37	6	32046888	32046888	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr6:32046888C>T	ENST00000375244.3	-	11	4498	c.4297G>A	c.(4297-4299)Ggg>Agg	p.G1433R	TNXB_ENST00000375247.2_Missense_Mutation_p.G1433R			P22105	TENX_HUMAN	tenascin XB	1520					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.G1433R(1)|p.G1520R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TACTTGTGCCCGGGCTCTAGG	0.687000													16	59					0	0	0.132662	0	0
CELF5	60680	broad.mit.edu	37	19	3273914	3273914	+	Silent	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:3273914C>T	ENST00000541430.2	+	3	423	c.387C>T	c.(385-387)cgC>cgT	p.R129R	CELF5_ENST00000292672.2_Silent_p.R129R	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	129					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	p.R129R(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GTGAAAGCCGCGGAGGTAGTT	0.597000													11	73					0	0	0.105934	0	0
COL21A1	81578	broad.mit.edu	37	6	56044588	56044588	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr6:56044588G>A	ENST00000244728.5	-	3	825	c.428C>T	c.(427-429)aCg>aTg	p.T143M	COL21A1_ENST00000535941.1_Missense_Mutation_p.T143M|COL21A1_ENST00000370819.1_Missense_Mutation_p.T143M	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	143	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.T143M(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTGCCATCCGTAAGTACCAC	0.433000													6	23					0	0	0.217242	0	0
TTC24	164118	broad.mit.edu	37	1	156552882	156552882	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:156552882C>T	ENST00000368236.3	+	4	995	c.959C>T	c.(958-960)gCc>gTc	p.A320V	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Missense_Mutation_p.A320V	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	320							binding	p.A320V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCAGCCTGGCCTTTGCATTG	0.652000													8	26					0	0	0.047766	0	0
AQP2	359	broad.mit.edu	37	12	50348099	50348099	+	Silent	SNP	T	T	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr12:50348099T>A	ENST00000199280.3	+	2	607	c.522T>A	c.(520-522)ctT>ctA	p.L174L	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	174					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	p.L174L(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCCACCTCCTTGGGGTAGGTC	0.617000													8	13					0	0	0.047766	0	0
WWC1	23286	broad.mit.edu	37	5	167881064	167881064	+	Nonsense_Mutation	SNP	G	G	T	rs145748084		TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr5:167881064G>T	ENST00000265293.4	+	18	3119	c.2617G>T	c.(2617-2619)Gag>Tag	p.E873*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.E873*|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	873	Glu-rich.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.E873*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGTTTTCACCGAGAAAGCCTC	0.542000													60	88					5.82218e-30	1.09923e-29	0.139131	1	0
ZCCHC13	389874	broad.mit.edu	37	X	73524138	73524138	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chrX:73524138G>A	ENST00000339534.2	+	1	114	c.37G>A	c.(37-39)Ggc>Agc	p.G13S		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	13							nucleic acid binding|zinc ion binding	p.G13S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TGGACACTCTGGCCATTGGGC	0.622000													3	11					0	0	0.150653	0	0
GFOD2	81577	broad.mit.edu	37	16	67719580	67719580	+	Silent	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr16:67719580G>A	ENST00000268797.7	-	2	384	c.39C>T	c.(37-39)ggC>ggT	p.G13G	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	13						proteinaceous extracellular matrix	binding|oxidoreductase activity	p.G13G(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GGGCGGAGCTGCCAGTCCCAA	0.582000													8	44					0	0	0.047766	0	0
ABCD3	5825	broad.mit.edu	37	1	94933552	94933552	+	Silent	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:94933552A>T	ENST00000370214.4	+	4	348	c.324A>T	c.(322-324)acA>acT	p.T108T	ABCD3_ENST00000315713.5_Silent_p.T108T|ABCD3_ENST00000454898.2_Silent_p.T132T|ABCD3_ENST00000536817.1_Silent_p.T35T|ABCD3_ENST00000394233.2_Silent_p.T108T	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	108	ABC transmembrane type-1.|Interaction with PEX19.|Targeting to peroxisomes.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.T108T(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AAAATGGGACACTAATTGAAA	0.318000													4	37					0	0	0.150653	0	0
INPP5D	3635	broad.mit.edu	37	2	233925275	233925275	+	Silent	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:233925275C>A	ENST00000359570.5	+	1	87	c.87C>A	c.(85-87)ctC>ctA	p.L29L	INPP5D_ENST00000538935.1_Silent_p.L29L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	29	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	p.L29L(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGAGCTTCCTCGTGCGTGCCA	0.642000													8	29					1.06961e-07	1.56788e-07	0.038147	1	0
BCHE	590	broad.mit.edu	37	3	165548045	165548045	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:165548045C>A	ENST00000264381.3	-	2	943	c.777G>T	c.(775-777)tgG>tgT	p.W259C	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	259					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.W259C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATGTTACCGCCCAAGGAGCAT	0.433000													10	66					0.000442599	0.000544028	0.058154	1	0
TDRD9	122402	broad.mit.edu	37	14	104452579	104452579	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr14:104452579C>T	ENST00000409874.4	+	8	1085	c.1037C>T	c.(1036-1038)cCg>cTg	p.P346L	TDRD9_ENST00000339063.5_Missense_Mutation_p.P346L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	346					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.P61L(1)|p.P346L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTGGAGGAACCGGTGATAACT	0.418000													3	22					0	0	0.150653	0	0
SCN4A	6329	broad.mit.edu	37	17	62018277	62018277	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr17:62018277A>T	ENST00000578147.1	-	24	5441	c.5365T>A	c.(5365-5367)Tcg>Acg	p.S1789T	SCN4A_ENST00000435607.1_Missense_Mutation_p.S1789T			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1789					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1789T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCTTGGCGAGCTGCTGTTC	0.667000													18	50					0	0	0.175082	0	0
RINL	126432	broad.mit.edu	37	19	39359959	39359959	+	Silent	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:39359959G>A	ENST00000340740.3	-	11	1611	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	RINL_ENST00000598904.1_Silent_p.S408S|RINL_ENST00000591812.1_Silent_p.S522S	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	408							GTPase activator activity	p.S408S(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						CGCGGGCCTCGGAGCTGAGCC	0.657000													22	63					0	0	0.069288	0	0
LILRB2	10288	broad.mit.edu	37	19	54780244	54780244	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr19:54780244A>T	ENST00000391748.1	-	11	1674	c.1547T>A	c.(1546-1548)cTg>cAg	p.L516Q	LILRB2_ENST00000391746.1_Intron|LILRB2_ENST00000434421.1_Missense_Mutation_p.L401Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.L517Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.L516Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	517					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L517Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTCCACTGCAGGCCTCTGTC	0.627000													7	54					0	0	0.069234	0	0
SLC1A3	6507	broad.mit.edu	37	5	36679929	36679929	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr5:36679929A>T	ENST00000265113.4	+	7	1537	c.1061A>T	c.(1060-1062)cAa>cTa	p.Q354L	SLC1A3_ENST00000381918.3_Missense_Mutation_p.Q354L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	354					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.Q354L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GGGTTGCTGCAAGCACTCATC	0.478000													18	38					0	0	0.204396	0	0
CACNA2D1	781	broad.mit.edu	37	7	81579742	81579742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr7:81579742C>T	ENST00000356860.3	-	39	3580	c.3242G>A	c.(3241-3243)tGg>tAg	p.W1081*	CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.W1093*|CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.W293*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1093						voltage-gated calcium channel complex	metal ion binding	p.W1081*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGATACCAGCCAAAGTAGTAG	0.428000													6	27					0	0	0.217242	0	0
VWF	7450	broad.mit.edu	37	12	6161858	6161858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr12:6161858G>T	ENST00000261405.5	-	16	2291	c.2037C>A	c.(2035-2037)tgC>tgA	p.C679*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	679	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.C679fs*63(1)|p.C679*(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCCTCATTGCATTCCTCAT	0.622000													6	39					0.217242	0.220988	0.217242	1	0
IGLV4-69	28784	broad.mit.edu	37	22	22385622	22385622	+	RNA	SNP	G	G	T	rs146733843	by1000genomes	TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr22:22385622G>T	ENST00000390282.2	+	0	171				PRAMEF24P_ENST00000337471.4_RNA																							TGGGAGCCTCGGTCAAGCTCA	0.582000													3	20					0.00909568	0.0103201	0.150653	1	0
SLC17A3	10786	broad.mit.edu	37	6	25850090	25850090	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr6:25850090C>A	ENST00000397060.4	-	10	1323	c.1214G>T	c.(1213-1215)gGa>gTa	p.G405V	SLC17A3_ENST00000360657.3_Missense_Mutation_p.G327V|SLC17A3_ENST00000361703.6_Missense_Mutation_p.G327V	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	327					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	p.G405V(1)|p.G327V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TGTGCTTAATCCGCAAGAGAG	0.433000													10	60					7.48243e-07	1.04488e-06	0.058154	1	0
UBE2V2	7336	broad.mit.edu	37	8	48921025	48921025	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr8:48921025C>T	ENST00000523111.2	+	1	66	c.11C>T	c.(10-12)tCc>tTc	p.S4F	UBE2V2_ENST00000517630.1_5'UTR|UBE2V2_ENST00000521346.1_5'UTR	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	4					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding	p.S4F(1)		large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				ATGGCGGTCTCCACAGGTCGG	0.726000								Rad6 pathway					4	21					0	0	0.150653	0	0
DCAF7	10238	broad.mit.edu	37	17	61657267	61657267	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr17:61657267G>A	ENST00000310827.4	+	4	708	c.491G>A	c.(490-492)gGc>gAc	p.G164D	DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	164					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	p.G164D(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CTCGTGTCTGGCCACGTGAAG	0.527000													14	26					0	0	0.119110	0	0
KLHL4	56062	broad.mit.edu	37	X	86869441	86869441	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chrX:86869441G>T	ENST00000373119.4	+	3	740	c.595G>T	c.(595-597)Gtt>Ttt	p.V199F	KLHL4_ENST00000373114.4_Missense_Mutation_p.V199F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	199	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.V199F(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTCCAGGTTGGTTCTCAGCGC	0.373000													4	14					0.00024832	0.000313388	0.150653	1	0
ATP1A2	477	broad.mit.edu	37	1	160106081	160106081	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:160106081C>G	ENST00000361216.3	+	18	2573	c.2484C>G	c.(2482-2484)atC>atG	p.I828M	ATP1A2_ENST00000392233.3_Missense_Mutation_p.I828M|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	828					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.I828M(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAGTGATATCATGAAGCGGC	0.592000													13	66					0	0	0.105934	0	0
PTPN14	5784	broad.mit.edu	37	1	214638034	214638034	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:214638034G>C	ENST00000366956.5	-	2	307	c.113C>G	c.(112-114)tCg>tGg	p.S38W	PTPN14_ENST00000543945.1_Missense_Mutation_p.S38W	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	38	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.S38W(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCTTTCCACCGACAGCGTGCA	0.597000													9	36					0	0	0.047766	0	0
ACTC1	70	broad.mit.edu	37	15	35083387	35083387	+	Silent	SNP	A	A	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr15:35083387A>T	ENST00000290378.4	-	6	1573	c.918T>A	c.(916-918)acT>acA	p.T306T	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	306					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.T306T(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGGGTACATAGTGGTGCCTC	0.448000													33	148					0	0	0.183431	0	0
DENND2D	79961	broad.mit.edu	37	1	111731363	111731363	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:111731363T>A	ENST00000357640.4	-	10	1289	c.1060A>T	c.(1060-1062)Atc>Ttc	p.I354F	DENND2D_ENST00000369752.5_Missense_Mutation_p.I351F	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	354								p.I354F(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GAGTCTAAGATGTCATCCTGA	0.478000													26	177					0	0	0.108266	0	0
CROCC	9696	broad.mit.edu	37	1	17185383	17185384	+	RNA	INS	-	-	C	rs33920141	by1000genomes	TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr1:17185383_17185384insC	ENST00000414128.1	+	0	646																											ACTAAATTTTTAGTGCAATAAT	0.465													2	4	---	---	---	---					
ZEB2	9839	broad.mit.edu	37	2	145157069	145157069	+	Frame_Shift_Del	DEL	A	A	-			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr2:145157069delA	ENST00000558170.2	-	8	2869	c.1685delT	c.(1684-1686)tafs	p.L562fs	ZEB2_ENST00000303660.4_Frame_Shift_Del_p.L562fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.L538fs|ZEB2_ENST00000409487.3_Frame_Shift_Del_p.L562fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	562						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAAATCTATTAAAGTACGTAG	0.403													20	108	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													3	4	---	---	---	---					
TRIM72	493829	broad.mit.edu	37	16	31234173	31234173	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr16:31234173delC	ENST00000322122.3	+	6	1050	c.766delC	c.(766-768)ccfs	p.P258fs		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	258					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GGCAGAGTCTCCCCCACCCGC	0.617													10	33	---	---	---	---					
RLTPR	146206	broad.mit.edu	37	16	67681438	67681454	+	Frame_Shift_Del	DEL	GCTGGCGGGACACTCAA	GCTGGCGGGACACTCAA	-			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr16:67681438_67681454delGCTGGCGGGACACTCAA	ENST00000334583.6	+	11	1132_1148	c.804_820delGCTGGCGGGACACTCAA	c.(802-822)gcgcfs	p.ALAGHSS268fs	RLTPR_ENST00000545661.1_Frame_Shift_Del_p.ALAGHSS268fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	268										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCT	0.668													5	9	---	---	---	---					
PLCD3	113026	broad.mit.edu	37	17	43192760	43192762	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr17:43192760_43192762delTCC	ENST00000322765.5	-	9	1622_1624	c.1509_1511delGGA	c.(1507-1512)gat>ga	p.ED503del	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	503					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E503D(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	ctcctcgtcatcctcctcctcct	0.670													4	7	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21143719	21143721	+	RNA	DEL	CCA	CCA	-			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr20:21143719_21143721delCCA	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							GTTGCCCTATCCACTGAAAAAAA	0.419													12	61	---	---	---	---					
CRYBA4	1413	broad.mit.edu	37	22	27019232	27019232	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chr22:27019232delG	ENST00000354760.3	+	3	109	c.74delG	c.(73-75)cgfs	p.R26fs	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	26	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.R25L(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TTCCAGGGCCGGCGGCACGAG	0.602													24	132	---	---	---	---					
CACNA1F	778	broad.mit.edu	37	X	49063047	49063048	+	Frame_Shift_Del	DEL	GC	GC	-	rs150889699		TCGA-64-5815-01A-01D-1625-08	TCGA-64-5815-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e800c8d4-786a-4a9d-ace2-2b779336e557	b94df4ae-b346-411d-85a5-e60da27625ee	g.chrX:49063047_49063048delGC	ENST00000376265.2	-	46	5490_5491	c.5429_5430delGC	c.(5428-5430)cfs	p.R1810fs	CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.R1799fs|CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.R1745fs	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1810					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AACTGCCCTGGCGCTGCAGACA	0.604													10	32	---	---	---	---