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
MCM3AP	8888	broad.mit.edu	37	21	47697544	47697544	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:47697544G>A	ENST00000397708.1	-	6	2009	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	MCM3AP_ENST00000291688.1_Silent_p.L585L			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	585					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CACATGGCCCGAGGCCCTCGG	0.552000													12	111					0	0	0.002450	0	0
LIN9	286826	broad.mit.edu	37	1	226421074	226421074	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:226421074T>C	ENST00000328205.5	-	13	1989	c.1444A>G	c.(1444-1446)Agg>Ggg	p.R482G	LIN9_ENST00000366801.1_Missense_Mutation_p.R431G|LIN9_ENST00000481685.1_Missense_Mutation_p.R447G	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	466					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCTGTAAGCCTGGAAATTAAG	0.368000													3	146					0	0	0.009096	0	0
TAS2R20	259295	broad.mit.edu	37	12	11150362	11150362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:11150362C>T	ENST00000538986.1	-	1	112	c.113G>A	c.(112-114)aGa>aAa	p.R38K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	38					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GATCTTTTGTCTCTTGACCCA	0.378000													23	46					0	0	0.002780	0	0
SLC12A4	6560	broad.mit.edu	37	16	67979293	67979293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:67979293C>G	ENST00000422611.2	-	21	3056	c.3017G>C	c.(3016-3018)cGg>cCg	p.R1006P	SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R1004P|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R998P|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R956P|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R973P|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R1004P	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1004					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCAGCTCCCGGAAATTGTC	0.572000													28	58					0	0	0.007291	0	0
DNAH3	55567	broad.mit.edu	37	16	20981224	20981224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:20981224G>A	ENST00000261383.3	-	52	8347	c.8348C>T	c.(8347-8349)tCg>tTg	p.S2783L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2783	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCACCAGCGAGATGTCGGC	0.592000													35	86					0	0	0.003271	0	0
OR10R2	343406	broad.mit.edu	37	1	158450344	158450344	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:158450344T>C	ENST00000368152.1	+	1	677	c.677T>C	c.(676-678)gTa>gCa	p.V226A	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGAGTTCTTGTACTTGTGGTT	0.413000													26	87					0	0	0.008361	0	0
DNAH2	146754	broad.mit.edu	37	17	7696466	7696466	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7696466C>T	ENST00000572933.1	+	48	8972	c.7512C>T	c.(7510-7512)ctC>ctT	p.L2504L	DNAH2_ENST00000389173.2_Silent_p.L2504L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2504	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCCGCCTCTGGATTGACT	0.517000													22	84					0	0	0.014323	0	0
RGP1	9827	broad.mit.edu	37	9	35750328	35750328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35750328C>A	ENST00000378078.4	+	3	346	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	RGP1_ENST00000456972.2_Missense_Mutation_p.Q109K	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	69										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGACTCTAGTCAGCCAGATGT	0.612000													9	31					9.05144e-12	1.01146e-11	0.001855	1	0
USP8	9101	broad.mit.edu	37	15	50791262	50791262	+	Nonsense_Mutation	SNP	C	C	T	rs142928952		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:50791262C>T	ENST00000433963.1	+	21	3834	c.3334C>T	c.(3334-3336)Cga>Tga	p.R1112*	USP8_ENST00000396444.3_Nonsense_Mutation_p.R1112*|USP8_ENST00000425032.3_Nonsense_Mutation_p.R1006*|USP8_ENST00000307179.4_Nonsense_Mutation_p.R1112*	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1112					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTGGGACCACGAGTAACTGA	0.368000													12	33					0	0	0.010729	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055505	72055505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:72055505G>C	ENST00000555818.1	+	2	1264	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E306Q|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E306Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	306					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAAAGGTGAAGAACTTGGGAA	0.433000													13	47					0	0	0.013537	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88307677	88307677	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:88307677G>C	ENST00000357081.3	-	3	228	c.84C>G	c.(82-84)atC>atG	p.I28M	AGTPBP1_ENST00000376081.4_Missense_Mutation_p.I28M|AGTPBP1_ENST00000337006.4_De_novo_Start_InFrame|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.I80M|AGTPBP1_ENST00000376080.1_De_novo_Start_InFrame|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.I28M			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	28					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCTCAGCATTGATCTTCTCCA	0.388000													6	25					0	0	0.001168	0	0
NCAPD3	23310	broad.mit.edu	37	11	134072795	134072795	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:134072795A>G	ENST00000534548.2	-	13	1595	c.1531T>C	c.(1531-1533)Tcc>Ccc	p.S511P		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	511					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTTTGGTAGGAAAAAGCTTTA	0.348000													16	16					0	0	0.004007	0	0
SLC31A1	1317	broad.mit.edu	37	9	116028637	116028637	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:116028637A>G	ENST00000374210.6	+	6	716	c.530A>G	c.(529-531)gAg>gGg	p.E177G	CDC26_ENST00000490408.1_Intron			O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	60						integral to plasma membrane	copper ion transmembrane transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						ATGATTCAAGAGGCTCTTATG	0.473000													4	5					0	0	0.009096	0	0
ABCC8	6833	broad.mit.edu	37	11	17418492	17418492	+	Missense_Mutation	SNP	C	C	G	rs138642224	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:17418492C>G	ENST00000302539.4	-	33	4218	c.4093G>C	c.(4093-4095)Gtc>Ctc	p.V1365L	ABCC8_ENST00000389817.3_Missense_Mutation_p.V1364L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1364	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGCATTGACGTGCTTCAGC	0.612000													11	46					0	0	0.010729	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79067056	79067056	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:79067056G>A	ENST00000388820.4	-	12	1996	c.1786C>T	c.(1786-1788)Cgc>Tgc	p.R596C	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	596	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AAGGAGGGGCGGCCAGCAGGG	0.632000													10	39					0	0	0.006214	0	0
RADIL	55698	broad.mit.edu	37	7	4856042	4856042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:4856042G>A	ENST00000399583.3	-	8	1970	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	RADIL_ENST00000538469.1_Missense_Mutation_p.R355C|RADIL_ENST00000536091.1_Missense_Mutation_p.A541V	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	595	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTCTCACGGCGCTCCGTCTGG	0.677000													4	15					0	0	0.009096	0	0
OSBPL2	9885	broad.mit.edu	37	20	60835072	60835072	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:60835072G>A	ENST00000313733.3	+	3	275	c.73G>A	c.(73-75)Gag>Aag	p.E25K	OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	25					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGAATTTTCAGAGGCAAATCA	0.423000													23	55					0	0	0.004656	0	0
UNC5D	137970	broad.mit.edu	37	8	35583721	35583721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:35583721G>A	ENST00000287272.2	+	9	1168	c.1148G>A	c.(1147-1149)cGg>cAg	p.R383Q	UNC5D_ENST00000404895.2_Missense_Mutation_p.R452Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R457Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.R447Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R385Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R28Q			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	452					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGTGAGCCGGACATACAGC	0.488000													59	62					0	0	0.014410	0	0
TMEM99	147184	broad.mit.edu	37	17	38991082	38991082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:38991082C>T	ENST00000301665.3	+	3	618	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	105						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTGTTGGCTCGTGGTTGCTC	0.468000													62	129					0	0	0.014410	0	0
SLC2A3	6515	broad.mit.edu	37	12	8082459	8082459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:8082459G>A	ENST00000075120.7	-	6	922	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	228					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CCCCACAACCGCTGGAGGACT	0.498000													12	89					0	0	0.006122	0	0
UNC13C	440279	broad.mit.edu	37	15	54916087	54916087	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:54916087G>T	ENST00000545554.1	+	31	6294	c.6294G>T	c.(6292-6294)aaG>aaT	p.K2098N	UNC13C_ENST00000537900.1_Missense_Mutation_p.K2096N|UNC13C_ENST00000539562.2_Missense_Mutation_p.K19N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K2098N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2098	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGACAAGAAGAGAAAACAAG	0.403000													19	45					8.28177e-16	9.37358e-16	0.007413	1	0
CNTN2	6900	broad.mit.edu	37	1	205039107	205039107	+	Silent	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:205039107C>A	ENST00000331830.4	+	18	2633	c.2349C>A	c.(2347-2349)ccC>ccA	p.P783P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	783	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCTACACGCCCTTTGAGGTCA	0.667000													21	82					1.50039e-11	1.67132e-11	0.012319	1	0
KCTD13	253980	broad.mit.edu	37	16	29918300	29918300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:29918300C>T	ENST00000568000.1	-	6	1884	c.883G>A	c.(883-885)Ggg>Agg	p.G295R		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	295					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						TCATCCTCCCCGCGGCCAGCC	0.637000													33	80					0	0	0.003271	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606867	31606867	+	Splice_Site	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:31606867G>A	ENST00000170150.3	+	10	1050		c.e10-1			NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2							extracellular region	lipid binding										GCTGATTTCAGAGGTCGGATG	0.572000													44	83					0	0	0.011902	0	0
F13B	2165	broad.mit.edu	37	1	197024886	197024886	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:197024886C>T	ENST00000367412.1	-	8	1356	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	438	Sushi 7.				blood coagulation	extracellular region		p.R438H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTGTTCGCAACGAGATATTTT	0.413000													11	53					0	0	0.003163	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66766353	66766353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:66766353G>C	ENST00000258198.2	-	7	1024	c.818C>G	c.(817-819)tCa>tGa	p.S273*	DYNC1LI2_ENST00000443351.2_Nonsense_Mutation_p.S196*|DYNC1LI2_ENST00000440564.2_Nonsense_Mutation_p.S234*|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	273					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTCTTTCACTGATGTGTAAAT	0.378000													11	17					0	0	0.010729	0	0
OBSCN	84033	broad.mit.edu	37	1	228459794	228459794	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:228459794C>T	ENST00000570156.2	+	20	5932	c.5858C>T	c.(5857-5859)tCg>tTg	p.S1953L	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.S425L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	934	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCCAGCTCGAAAATGCGT	0.667000													13	72					0	0	0.001855	0	0
DCAF17	80067	broad.mit.edu	37	2	172314572	172314572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:172314572C>A	ENST00000375255.3	+	7	1046	c.719C>A	c.(718-720)aCc>aAc	p.T240N	DCAF17_ENST00000539783.1_Missense_Mutation_p.T240N|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	240						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AGCTTCCAAACCATCGCTGAA	0.388000													81	231					1.21826e-31	1.39683e-31	0.014410	1	0
LIPE	3991	broad.mit.edu	37	19	42912238	42912238	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:42912238A>G	ENST00000244289.4	-	4	1822	c.1546T>C	c.(1546-1548)Ttt>Ctt	p.F516L	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_5'UTR	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	516					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCGATGGCAAAGCGGCCGCTG	0.627000													14	74					0	0	0.004007	0	0
KCNU1	157855	broad.mit.edu	37	8	36671785	36671785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:36671785G>A	ENST00000399881.3	+	8	830	c.793G>A	c.(793-795)Gag>Aag	p.E265K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	265						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCATATTTTGAGTCAATTTA	0.418000													17	18					0	0	0.004990	0	0
CANT1	124583	broad.mit.edu	37	17	76991155	76991155	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:76991155C>T	ENST00000302345.2	-	3	1274	c.780G>A	c.(778-780)gaG>gaA	p.E260E	CANT1_ENST00000591773.1_Silent_p.E260E|CANT1_ENST00000392446.5_Silent_p.E260E	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	260					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACACCCAGTTCTCGTGGTCCA	0.652000			T	ETV4	prostate								6	13					0	0	0.001168	0	0
NCDN	23154	broad.mit.edu	37	1	36031042	36031042	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:36031042C>T	ENST00000373243.2	+	7	2351	c.1968C>T	c.(1966-1968)ccC>ccT	p.P656P	NCDN_ENST00000356090.4_Silent_p.P656P|NCDN_ENST00000373253.3_Silent_p.P639P	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	656					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCTGGCCCCCGCTGCCCTGC	0.682000													11	20					0	0	0.008291	0	0
COLGALT2	23127	broad.mit.edu	37	1	183938459	183938459	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:183938459T>G	ENST00000361927.4	-	5	1147	c.776A>C	c.(775-777)gAc>gCc	p.D259A	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D259A	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		CCAGGTGTAGTCCTGGTGTGG	0.537000													24	71					0	0	0.003330	0	0
LIMS2	55679	broad.mit.edu	37	2	128412466	128412466	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:128412466T>C	ENST00000409455.1	-	3	796	c.161A>G	c.(160-162)gAa>gGa	p.E54G	LIMS2_ENST00000545738.2_Missense_Mutation_p.E81G|LIMS2_ENST00000324938.5_Missense_Mutation_p.E83G|LIMS2_ENST00000355119.4_Missense_Mutation_p.E59G|LIMS2_ENST00000410011.1_Missense_Mutation_p.E54G|LIMS2_ENST00000409808.2_Missense_Mutation_p.E54G			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	59	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTTCCGGCCTTCAAACTGCAA	0.582000													3	23					0	0	0.004672	0	0
FOLH1	2346	broad.mit.edu	37	11	49229949	49229949	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:49229949G>A	ENST00000256999.2	-	1	273	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	FOLH1_ENST00000356696.3_Missense_Mutation_p.L5F|FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	5					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTTTCGTGAAGGAGATTCCAC	0.701000													3	9					0	0	0.004672	0	0
IRX1	79192	broad.mit.edu	37	5	3600291	3600291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:3600291C>G	ENST00000302006.3	+	2	1281	c.1229C>G	c.(1228-1230)cCa>cGa	p.P410R	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	410	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTGCACCTCCACCACCGCAG	0.701000													15	69					0	0	0.003163	0	0
KIF26B	55083	broad.mit.edu	37	1	245772637	245772637	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:245772637C>G	ENST00000366518.4	+	5	682	c.578C>G	c.(577-579)tCt>tGt	p.S193C	KIF26B_ENST00000407071.2_Missense_Mutation_p.S574C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	574					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGCCATCTCTTGGCTCTTC	0.537000													5	12					0	0	0.000602	0	0
SLC19A1	6573	broad.mit.edu	37	21	46957703	46957703	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:46957703C>T	ENST00000311124.4	-	2	323	c.171G>A	c.(169-171)aaG>aaA	p.K57K	SLC19A1_ENST00000567670.1_Silent_p.K57K|SLC19A1_ENST00000380010.4_Silent_p.K57K	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	57					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGTGAAGTTCTTGTCGGGCC	0.687000													7	7					0	0	0.001984	0	0
CCSER1	401145	broad.mit.edu	37	4	91230090	91230090	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:91230090A>G	ENST00000509176.1	+	2	943	c.655A>G	c.(655-657)Aga>Gga	p.R219G	CCSER1_ENST00000432775.2_Missense_Mutation_p.R219G|CCSER1_ENST00000333691.8_Missense_Mutation_p.R219G	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		GTACCAAGAGAGAGAACCTGT	0.408000													12	30					0	0	0.010729	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3669239	3669239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:3669239C>T	ENST00000344754.4	-	21	5097	c.5098G>A	c.(5098-5100)Gag>Aag	p.E1700K	SIGLEC1_ENST00000202578.4_Silent_p.V1675V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1700					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTTGAGGTCTCACATGTGGCT	0.612000													5	18					0	0	0.000602	0	0
COL3A1	1281	broad.mit.edu	37	2	189864617	189864617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:189864617C>G	ENST00000304636.3	+	32	2449	c.2279C>G	c.(2278-2280)cCa>cGa	p.P760R	COL3A1_ENST00000317840.5_Missense_Mutation_p.P760R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	760	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAGATGGCCCAAGGGTGAGT	0.438000													3	19					0	0	0.009096	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432019	117432019	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:117432019G>C	ENST00000160373.3	-	4	1322	c.1231C>G	c.(1231-1233)Caa>Gaa	p.Q411E		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	411	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGTGTTTGAGCGGTGGGA	0.522000													34	115					0	0	0.013726	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013807	117013807	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:117013807C>G	ENST00000306985.4	+	2	214	c.60C>G	c.(58-60)gtC>gtG	p.V20V	MAP1LC3B2_ENST00000556529.1_Silent_p.V20V	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	20					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						TAGAAGATGTCCGACTTATTC	0.537000													17	96					0	0	0.004007	0	0
COLEC12	81035	broad.mit.edu	37	18	335145	335145	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:335145C>A	ENST00000400256.3	-	6	1620	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	471	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTCCCCCTTCTCTCCTTTCT	0.632000													14	42					0.00185496	0.0020029	0.001855	1	0
ANO4	121601	broad.mit.edu	37	12	101504254	101504254	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:101504254A>G	ENST00000392979.3	+	22	2478	c.2117A>G	c.(2116-2118)aAc>aGc	p.N706S	ANO4_ENST00000550015.1_Missense_Mutation_p.N261S|ANO4_ENST00000299222.9_Missense_Mutation_p.N261S|ANO4_ENST00000392977.3_Missense_Mutation_p.N741S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	741						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTACTGAATAACATAATTGAA	0.398000										HNSCC(74;0.22)			3	73					0	0	0.004672	0	0
ZNF711	7552	broad.mit.edu	37	X	84525039	84525039	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:84525039G>C	ENST00000360700.4	+	9	2019	c.1133G>C	c.(1132-1134)aGa>aCa	p.R378T	ZNF711_ENST00000395402.1_Missense_Mutation_p.R340T|ZNF711_ENST00000542798.1_Missense_Mutation_p.R174T|ZNF711_ENST00000276123.3_Missense_Mutation_p.R332T|ZNF711_ENST00000373165.3_Missense_Mutation_p.R332T			Q9Y462	ZN711_HUMAN	zinc finger protein 711	332					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTAGAAAGCAGAAGTAGTACA	0.333000													8	30					0	0	0.004482	0	0
CBLL1	79872	broad.mit.edu	37	7	107398754	107398754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:107398754G>A	ENST00000440859.2	+	6	1074	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.E202K	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	203					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGCTTCACTTGAAAATGTTCA	0.458000													57	125					0	0	0.014410	0	0
CREBBP	1387	broad.mit.edu	37	16	3777767	3777767	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:3777767G>A	ENST00000262367.5	-	31	8090	c.7281C>T	c.(7279-7281)gtC>gtT	p.V2427V	CREBBP_ENST00000382070.3_Silent_p.V2389V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2427					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGTCCCCGACCAGGGACA	0.562000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						36	131					0	0	0.006230	0	0
CXXC1	30827	broad.mit.edu	37	18	47810844	47810844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:47810844G>A	ENST00000285106.6	-	9	1823	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	CXXC1_ENST00000589940.1_Missense_Mutation_p.A370V|CXXC1_ENST00000412036.2_Missense_Mutation_p.A374V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	370					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGGCAGTGACGCAGGGTCCTT	0.597000													13	120					0	0	0.002450	0	0
OR14J1	442191	broad.mit.edu	37	6	29274980	29274980	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:29274980A>G	ENST00000377160.2	+	1	578	c.514A>G	c.(514-516)Att>Gtt	p.I172V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GAAGAGAGTCATTCACCAATT	0.478000													42	90					0	0	0.010771	0	0
SLC25A10	1468	broad.mit.edu	37	17	79673961	79673961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:79673961C>T	ENST00000571730.1	+	4	502	c.371C>T	c.(370-372)gCg>gTg	p.A124V	SLC25A10_ENST00000541223.1_Missense_Mutation_p.A124V|MRPL12_ENST00000333676.3_Missense_Mutation_p.A124V			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	ATCCCCATAGCGAAAGAACGG	0.562000													17	13					0	0	0.006122	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761101	121761101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:121761101C>G	ENST00000261367.7	+	7	2626	c.1198C>G	c.(1198-1200)Cta>Gta	p.L400V	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L353V|SNCAIP_ENST00000503116.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000504884.2_Missense_Mutation_p.S62C|SNCAIP_ENST00000542191.1_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	353					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGAAACAATCTATTACATAT	0.428000													55	54					0	0	0.014410	0	0
SUN5	140732	broad.mit.edu	37	20	31590695	31590695	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:31590695C>T	ENST00000356173.3	-	2	200	c.108G>A	c.(106-108)agG>agA	p.R36R	SUN5_ENST00000375519.2_Silent_p.R36R|SUN5_ENST00000375523.3_Silent_p.R36R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	36					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCTCTGCCATCCTGCTGGTGT	0.527000													19	49					0	0	0.010504	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213277818	213277818	+	Silent	SNP	C	C	A	rs56056039	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:213277818C>A	ENST00000366960.3	+	4	435	c.285C>A	c.(283-285)atC>atA	p.I95I	RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000366959.3_Silent_p.I83I|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	95	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAACTGTTATCGAAGAGAGAA	0.373000													8	50					3.09899e-07	3.41957e-07	0.004482	1	0
PITPNM3	83394	broad.mit.edu	37	17	6373604	6373604	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:6373604G>A	ENST00000262483.8	-	13	1836	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Silent_p.D547D	NM_031220.3	NP_112497.2																					AGGCCACCACGTCTGTGGACT	0.652000													5	16					0	0	0.000602	0	0
METTL21C	196541	broad.mit.edu	37	13	103338495	103338495	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:103338495G>A	ENST00000267273.6	-	4	686	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	227							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AGTCGGTGCTGAACCTGAATT	0.443000													12	42					0	0	0.010729	0	0
ZNF521	25925	broad.mit.edu	37	18	22806343	22806343	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:22806343G>C	ENST00000361524.3	-	4	1687	c.1539C>G	c.(1537-1539)ttC>ttG	p.F513L	ZNF521_ENST00000584787.1_Missense_Mutation_p.F293L|ZNF521_ENST00000538137.2_Missense_Mutation_p.F513L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	513					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGGACAAAAGAATGCATTAC	0.458000			T	PAX5	ALL								21	51					0	0	0.008871	0	0
PLCE1	51196	broad.mit.edu	37	10	95791831	95791831	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791831G>C	ENST00000260766.3	+	2	1662	c.1028G>C	c.(1027-1029)gGa>gCa	p.G343A	PLCE1_ENST00000371380.2_Missense_Mutation_p.G343A	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	343					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTGTATACTGGAACAAGAGCA	0.423000													9	39					0	0	0.004482	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1812845	1812845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:1812845G>A	ENST00000250894.4	+	16	1890	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R572H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	578					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGCTTCAGCCGCCTCTTCAGC	0.677000													28	66					0	0	0.004656	0	0
ZNF765	91661	broad.mit.edu	37	19	53912281	53912281	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53912281G>A	ENST00000396408.3	+	4	1590	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ATACTGGACAGAAACCTTACA	0.378000													13	98					0	0	0.001855	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994964	51994964	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:51994964C>T	ENST00000291707.3	-	8	1774	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	SIGLEC12_ENST00000598614.1_Silent_p.A455A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	573					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACTGAGGCCTCGCTTTGTGGA	0.597000													16	159					0	0	0.006122	0	0
AMBP	259	broad.mit.edu	37	9	116823771	116823771	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:116823771G>A	ENST00000265132.3	-	8	1048	c.786C>T	c.(784-786)ggC>ggT	p.G262G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	262	BPTI/Kunitz inhibitor 1.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCATGCAGCCGCCGTACTGGA	0.577000													24	86					0	0	0.003330	0	0
CECR1	51816	broad.mit.edu	37	22	17662734	17662734	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:17662734T>A	ENST00000399839.1	-	9	1688	c.1418A>T	c.(1417-1419)aAa>aTa	p.K473I	CECR1_ENST00000330232.4_Missense_Mutation_p.K232I|CECR1_ENST00000399837.2_Missense_Mutation_p.K473I|CECR1_ENST00000449907.2_Missense_Mutation_p.K431I|CECR1_ENST00000262607.3_Missense_Mutation_p.K473I			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	473					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGCCAGCTGTTTGAGGGTCCT	0.547000													26	50					0	0	0.004656	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564443	176564443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:176564443G>A	ENST00000367662.3	+	3	2867	c.1703G>A	c.(1702-1704)aGc>aAc	p.S568N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S568N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	568	Metalloprotease.			S -> N (in Ref. 2; AAL17780).	cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			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						TGGCAGCTGAGCGTCCACCAG	0.567000													21	81					0	0	0.010504	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610702	50610702	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:50610702A>G	ENST00000371824.1	+	2	340	c.83A>G	c.(82-84)aAc>aGc	p.N28S	ELAVL4_ENST00000371819.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.N45S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.N31S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.N28S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.N28S			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	28					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCCAGCAACAACAGAAACTGT	0.418000													12	25					0	0	0.010729	0	0
ZNF630	57232	broad.mit.edu	37	X	47918145	47918145	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:47918145C>G	ENST00000276054.4	-	5	2248	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	ZNF630_ENST00000409324.3_Missense_Mutation_p.Q562H|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.Q548H			Q2M218	ZN630_HUMAN	zinc finger protein 630	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TATGACCTCTCTGATGTAGAA	0.448000													10	11					0	0	0.008291	0	0
DMD	1756	broad.mit.edu	37	X	31986549	31986549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:31986549G>C	ENST00000357033.4	-	45	6727	c.6521C>G	c.(6520-6522)tCa>tGa	p.S2174*	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.S2170*|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2174					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTGTTTTTGAGGATTGCTG	0.458000													23	72					0	0	0.012319	0	0
DLK1	8788	broad.mit.edu	37	14	101201194	101201194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:101201194G>A	ENST00000341267.4	+	5	1355	c.1113G>A	c.(1111-1113)atG>atA	p.M371I	DLK1_ENST00000331224.6_Missense_Mutation_p.M298I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	371					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGATCGACATGACCACCTTCA	0.562000													35	97					0	0	0.004878	0	0
PLEC	5339	broad.mit.edu	37	8	144998292	144998292	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:144998292C>T	ENST00000322810.4	-	31	6385	c.6216G>A	c.(6214-6216)gaG>gaA	p.E2072E	PLEC_ENST00000354958.2_Silent_p.E1913E|PLEC_ENST00000436759.2_Silent_p.E1962E|PLEC_ENST00000398774.2_Silent_p.E1903E|PLEC_ENST00000354589.3_Silent_p.E1935E|PLEC_ENST00000357649.2_Silent_p.E1939E|PLEC_ENST00000345136.3_Silent_p.E1935E|PLEC_ENST00000527096.1_Silent_p.E1958E|PLEC_ENST00000356346.3_Silent_p.E1921E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2072	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCCGCCTTCTCGAAGCTCG	0.701000													15	28					0	0	0.002450	0	0
SCAF4	57466	broad.mit.edu	37	21	33057747	33057747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:33057747G>A	ENST00000286835.7	-	18	2642	c.2260C>T	c.(2260-2262)Cct>Tct	p.P754S	SCAF4_ENST00000434667.3_Missense_Mutation_p.P739S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P754S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	754						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAGGAGGAGGAATGGATACT	0.453000													12	63					0	0	0.004990	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													9	169					0	0	0.004482	0	0
OR9A4	130075	broad.mit.edu	37	7	141619579	141619579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:141619579C>T	ENST00000548136.1	+	1	963	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGAGGCCCTTCGGGATGGGGT	0.423000													21	70					0	0	0.014323	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234745081	234745081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:234745081C>A	ENST00000366609.3	-	1	190	c.160G>T	c.(160-162)Gag>Tag	p.E54*	IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.E54*|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGCGCCGTCTCGATGACGAAC	0.746000													4	5					0.00116845	0.00126552	0.001168	1	0
HSD3B1	3283	broad.mit.edu	37	1	120057080	120057080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:120057080C>T	ENST00000235547.6	+	4	1079	c.940C>T	c.(940-942)Cga>Tga	p.R314*	HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.R312*|HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.R312*	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	312					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TTACACCTATCGACCGCCCTT	0.473000													40	118					0	0	0.006230	0	0
XRCC6	2547	broad.mit.edu	37	22	42033722	42033722	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:42033722G>C	ENST00000359308.4	+	5	1355	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	XRCC6_ENST00000360079.3_Missense_Mutation_p.E234Q|XRCC6_ENST00000402580.3_Missense_Mutation_p.E193Q|XRCC6_ENST00000428575.2_Missense_Mutation_p.E101Q|XRCC6_ENST00000405878.1_Missense_Mutation_p.E234Q|XRCC6_ENST00000405506.1_Missense_Mutation_p.E184Q			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	234					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTCACTTTGAGGAATCCAG	0.537000								Non-homologous end-joining					3	18					0	0	0.004672	0	0
BIRC6	57448	broad.mit.edu	37	2	32724766	32724766	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:32724766C>G	ENST00000421745.2	+	46	8755	c.8621C>G	c.(8620-8622)tCa>tGa	p.S2874*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2874					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCACTTGCTCAGACAAAGTA	0.433000													44	123					0	0	0.014410	0	0
ACBD6	84320	broad.mit.edu	37	1	180471273	180471273	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:180471273G>A	ENST00000367595.3	-	1	816	c.129C>T	c.(127-129)gcC>gcT	p.A43A		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	43	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CAAACAGCTCGGCCAGGCAAC	0.612000													9	33					0	0	0.004482	0	0
CFP	5199	broad.mit.edu	37	X	47486681	47486681	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:47486681A>G	ENST00000247153.3	-	6	866	c.625T>C	c.(625-627)Tgc>Cgc	p.C209R	CFP_ENST00000377005.2_Missense_Mutation_p.C209R|CFP_ENST00000396992.3_Missense_Mutation_p.C209R	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	209	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCACCGTGGCAGGAGGCTGAG	0.667000													3	14					0	0	0.009096	0	0
KCTD2	23510	broad.mit.edu	37	17	73049121	73049121	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:73049121A>T	ENST00000581589.1	+	0	446				KCTD2_ENST00000322444.6_Missense_Mutation_p.E154V			Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2							voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					GTGCTGGAGGAAGCGGAGTTT	0.463000													20	21					0	0	0.012319	0	0
C17orf74	201243	broad.mit.edu	37	17	7330746	7330746	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7330746C>T	ENST00000333870.3	+	3	1510	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	479						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGGTCCAGCTCACTGCCACCG	0.632000													13	32					0	0	0.013537	0	0
KCNH8	131096	broad.mit.edu	37	3	19295208	19295208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:19295208G>A	ENST00000328405.2	+	2	405	c.139G>A	c.(139-141)Gat>Aat	p.D47N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	47	PAS.					integral to membrane	two-component sensor activity			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						CTACTGTTCCGATGGCTTCTG	0.453000													12	103					0	0	0.010729	0	0
TANC1	85461	broad.mit.edu	37	2	160086120	160086120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:160086120G>A	ENST00000263635.6	+	27	4420	c.4183G>A	c.(4183-4185)Gag>Aag	p.E1395K	TANC1_ENST00000454300.1_Missense_Mutation_p.E1289K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1395						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGACCTGCAAGAGGCTGTGAA	0.473000													9	40					0	0	0.004482	0	0
MAP2K1	5604	broad.mit.edu	37	15	66782908	66782908	+	Silent	SNP	C	C	T	rs150841154	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:66782908C>T	ENST00000307102.5	+	11	1668	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	SNAPC5_ENST00000395589.2_3'UTR|CTD-3185P2.1_ENST00000565387.1_RNA|SNAPC5_ENST00000563480.2_3'UTR|MAP2K1_ENST00000566326.1_Silent_p.I203I	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	379					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GCTCCACCATCGGCCTTAACC	0.532000													40	82					0	0	0.007835	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476460	140476460	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:140476460T>C	ENST00000194155.4	+	1	2234	c.2086T>C	c.(2086-2088)Ttg>Ctg	p.L696L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		696					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCGTTGGCCTCGGT	0.697000													52	166					0	0	0.014410	0	0
SHPRH	257218	broad.mit.edu	37	6	146245960	146245960	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:146245960T>A	ENST00000367503.3	-	17	3742	c.3344A>T	c.(3343-3345)tAc>tTc	p.Y1115F	SHPRH_ENST00000275233.7_Missense_Mutation_p.Y1106F|SHPRH_ENST00000438092.2_Missense_Mutation_p.Y1115F|SHPRH_ENST00000367505.2_Missense_Mutation_p.Y1106F	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1106					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTGCTCATGTAGTGCTCTCG	0.408000													23	59					0	0	0.014323	0	0
SPIB	6689	broad.mit.edu	37	19	50925756	50925756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:50925756G>A	ENST00000439922.2	+	3	100	c.20G>A	c.(19-21)tGg>tAg	p.W7*	SPIB_ENST00000596074.1_Silent_p.L26L|SPIB_ENST00000595883.1_Silent_p.L26L|SPIB_ENST00000270632.7_Silent_p.L26L|SPIB_ENST00000597855.1_Silent_p.L26L	NM_001243998.1	NP_001230927.1	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	0	TAD1 (Acidic).				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCTATGACCTGGACAGCTGCA	0.612000													16	21					0	0	0.006122	0	0
FBXW7	55294	broad.mit.edu	37	4	153332853	153332853	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:153332853G>A	ENST00000281708.4	-	2	1332	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	FBXW7_ENST00000604872.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R35C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	35					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTACCACACGATTCATCTGT	0.507000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								47	90					0	0	0.013114	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899295	112899295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:112899295G>C	ENST00000374530.3	+	8	1651	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	AKAP2_ENST00000259318.7_Missense_Mutation_p.E260Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.E491Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.E349Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.E349Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.E491Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E491Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		260							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GGAACATCTGGAGTCGCACAA	0.557000													11	18					0	0	0.013537	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43625502	43625502	+	RNA	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:43625502C>G	ENST00000586348.1	+	0	45																											GGTTTAACCTCTGTAGTAGGT	0.507000													61	148					0	0	0.014410	0	0
SALL1	6299	broad.mit.edu	37	16	51174819	51174819	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:51174819C>T	ENST00000440970.1	-	2	1454	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SALL1_ENST00000251020.4_Silent_p.A438A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	438					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A438A(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTACTTTTCGCTTCAAAGG	0.488000													33	95					0	0	0.013726	0	0
IQCG	84223	broad.mit.edu	37	3	197670906	197670906	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:197670906A>G	ENST00000265239.6	-	4	449	c.25T>C	c.(25-27)Tca>Cca	p.S9P	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.S9P|IQCG_ENST00000453254.1_Missense_Mutation_p.S9P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	9										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GGAAGGTTTGAGTCTTCCAGG	0.408000													3	161					0	0	0.004672	0	0
DTX1	1840	broad.mit.edu	37	12	113496163	113496163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:113496163G>A	ENST00000257600.3	+	1	669	c.166G>A	c.(166-168)Gct>Act	p.A56T		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	56	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGGAGGACGCTCGCGGTTC	0.647000													35	89					0	0	0.003271	0	0
ASTE1	28990	broad.mit.edu	37	3	130744130	130744130	+	Missense_Mutation	SNP	C	C	G	rs139512239		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:130744130C>G	ENST00000264992.3	-	3	462	c.21G>C	c.(19-21)atG>atC	p.M7I	ASTE1_ENST00000514044.1_Missense_Mutation_p.M7I	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	7					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CCACAAAACTCATTAGTCCTC	0.378000													22	57					0	0	0.003330	0	0
DGKQ	1609	broad.mit.edu	37	4	959304	959304	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:959304G>A	ENST00000273814.3	-	14	1666	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	531					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTGACTCACGGACACCACGG	0.667000													5	18					0	0	0.000602	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582563	136582563	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:136582563C>T	ENST00000531224.1	-	12	2849	c.2597G>A	c.(2596-2598)cGt>cAt	p.R866H	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R864H|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R84H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R693H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R817H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R815H|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R815H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	866					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAAGTACCACGACCTCTTCC	0.408000													25	227					0	0	0.003330	0	0
KIF1B	23095	broad.mit.edu	37	1	10384836	10384836	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:10384836G>A	ENST00000377086.1	+	26	2760	c.2558G>A	c.(2557-2559)cGa>cAa	p.R853Q	KIF1B_ENST00000377081.1_Missense_Mutation_p.R853Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.R807Q			O60333	KIF1B_HUMAN	kinesin family member 1B	853					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATTTGATGCGAGAGATGTAT	0.463000													20	53					0	0	0.012319	0	0
CASP8	841	broad.mit.edu	37	2	202149644	202149644	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:202149644A>T	ENST00000358485.4	+	8	1281	c.1085A>T	c.(1084-1086)gAc>gTc	p.D362V	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Missense_Mutation_p.D303V|CASP8_ENST00000323492.7_Missense_Mutation_p.D288V|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.D219V|CASP8_ENST00000264275.5_Missense_Mutation_p.D320V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	303					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAACTCATGGACCACAGTAAC	0.473000										HNSCC(4;0.00038)			81	83					0	0	0.014410	0	0
CYP2W1	54905	broad.mit.edu	37	7	1026752	1026752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:1026752C>T	ENST00000340150.6	+	6	683	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	CYP2W1_ENST00000308919.7_Missense_Mutation_p.P277S			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	277					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGGATGACCCCGAGGGCCT	0.692000													5	7					0	0	0.001168	0	0
TPSD1	23430	broad.mit.edu	37	16	1306640	1306640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:1306640C>T	ENST00000211076.3	+	2	354	c.206C>T	c.(205-207)tCc>tTc	p.S69F	TPSD1_ENST00000397534.2_Missense_Mutation_p.S62F	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCGGGGGCTCCCTCATCCAC	0.687000													22	57					0	0	0.002780	0	0
FARP1	10160	broad.mit.edu	37	13	99092944	99092944	+	Missense_Mutation	SNP	G	G	A	rs145597966	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:99092944G>A	ENST00000376586.2	+	25	3079	c.2743G>A	c.(2743-2745)Gcg>Acg	p.A915T	FARP1_ENST00000595437.1_Missense_Mutation_p.A915T|FARP1_ENST00000319562.6_Missense_Mutation_p.A884T			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	884					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAAGCCACCGCGGCTGACCA	0.627000													7	64					0	0	0.001984	0	0
CEBPG	1054	broad.mit.edu	37	19	33870422	33870422	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:33870422A>T	ENST00000284000.3	+	2	939	c.277A>T	c.(277-279)Aga>Tga	p.R93*		NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	93					B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					CACACTGCAGAGAGTCAATCA	0.438000													9	12					0	0	0.006214	0	0
CPA6	57094	broad.mit.edu	37	8	68334861	68334861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:68334861C>T	ENST00000297770.4	-	11	1407	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CPA6_ENST00000297769.4_Missense_Mutation_p.E154K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	398					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E398K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TCACGTAGTTCGAAAGCAAAT	0.383000													38	94					0	0	0.006230	0	0
WSB1	26118	broad.mit.edu	37	17	25628934	25628934	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:25628934G>T	ENST00000262394.2	+	2	477	c.161G>T	c.(160-162)gGa>gTa	p.G54V	WSB1_ENST00000581185.1_Missense_Mutation_p.G54V|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.G23V|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000579733.1_Intron	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	54					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGGTCACAAGGACATCGCACA	0.413000													35	201					3.76114e-14	4.22978e-14	0.004289	1	0
EPHA5	2044	broad.mit.edu	37	4	66356413	66356413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:66356413G>C	ENST00000273854.3	-	5	1684	c.1084C>G	c.(1084-1086)Cgg>Ggg	p.R362G	EPHA5_ENST00000511294.1_Missense_Mutation_p.R362G|EPHA5_ENST00000354839.4_Missense_Mutation_p.R362G|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	362	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATGGCATTCCGAGGAGCAGAG	0.393000										TSP Lung(17;0.13)			13	37					0	0	0.001855	0	0
ZNF615	284370	broad.mit.edu	37	19	52497522	52497522	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:52497522G>A	ENST00000602063.1	-	6	1156	c.807C>T	c.(805-807)ttC>ttT	p.F269F	ZNF615_ENST00000594083.1_Silent_p.F280F|ZNF615_ENST00000598071.1_Silent_p.F280F|ZNF615_ENST00000376716.5_Silent_p.F269F|ZNF615_ENST00000391795.3_Silent_p.F274F			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATTTCTTGAGGAAGGTTTTGT	0.413000													24	220					0	0	0.014323	0	0
OBSCN	84033	broad.mit.edu	37	1	228495827	228495827	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:228495827T>C	ENST00000570156.2	+	58	15427	c.15353T>C	c.(15352-15354)aTt>aCt	p.I5118T	OBSCN_ENST00000366709.4_Missense_Mutation_p.I1280T|OBSCN_ENST00000366707.4_Missense_Mutation_p.I1795T|OBSCN_ENST00000284548.11_Missense_Mutation_p.I4161T|OBSCN_ENST00000422127.1_Missense_Mutation_p.I4161T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4161					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGTGACCATTGTACGGGGG	0.612000													14	68					0	0	0.002450	0	0
PHIP	55023	broad.mit.edu	37	6	79655871	79655871	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:79655871G>C	ENST00000275034.4	-	38	4644	c.4477C>G	c.(4477-4479)Cag>Gag	p.Q1493E	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1493					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCGTTTATCTGAGCAGCATTG	0.433000													7	89					0	0	0.001984	0	0
PLCE1	51196	broad.mit.edu	37	10	95791784	95791784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791784G>C	ENST00000260766.3	+	2	1615	c.981G>C	c.(979-981)agG>agC	p.R327S	PLCE1_ENST00000371380.2_Missense_Mutation_p.R327S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	327					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTTAGTCAGGAGATTCTGTA	0.403000													13	60					0	0	0.001855	0	0
MXRA5	25878	broad.mit.edu	37	X	3241681	3241681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:3241681C>T	ENST00000217939.6	-	5	2199	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532000													27	71					0	0	0.007291	0	0
NKAIN4	128414	broad.mit.edu	37	20	61873937	61873937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:61873937G>A	ENST00000370316.3	-	6	660	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.H129Y|NKAIN4_ENST00000370313.1_Intron	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	191						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TCATTGACATGGTAGAGAGGA	0.453000													65	198					0	0	0.014410	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15885127	15885127	+	RNA	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:15885127C>T	ENST00000587443.2	-	0	295					NR_033864.1																						ATGGAGAGATCATCCTTGGGC	0.577000													19	60					0	0	0.008871	0	0
PYGM	5837	broad.mit.edu	37	11	64525340	64525340	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:64525340C>G	ENST00000164139.3	-	5	969	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	PYGM_ENST00000377432.3_Missense_Mutation_p.E103Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	191					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CGGGCCTTCTCCCAGGGGTTG	0.607000													18	25					0	0	0.010504	0	0
ME2	4200	broad.mit.edu	37	18	48447048	48447048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:48447048C>G	ENST00000321341.5	+	9	1134	c.862C>G	c.(862-864)Cta>Gta	p.L288V	ME2_ENST00000382927.3_Missense_Mutation_p.L288V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	288					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TGCAGTAGCTCTAGCAGGTCT	0.348000													40	50					0	0	0.009718	0	0
TRMU	55687	broad.mit.edu	37	22	46752850	46752850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:46752850G>A	ENST00000290846.4	+	11	1553	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	TRMU_ENST00000381019.3_Silent_p.*377*	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	405						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GATGGCCACTGAGAGCCCCAG	0.632000													15	39					0	0	0.003163	0	0
DCAF15	90379	broad.mit.edu	37	19	14070284	14070284	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:14070284G>A	ENST00000254337.6	+	7	1233	c.1212G>A	c.(1210-1212)ccG>ccA	p.P404P		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	404										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GGACGGAGCCGGAGGATGGTG	0.687000													25	49					0	0	0.002780	0	0
PITPNM1	9600	broad.mit.edu	37	11	67267280	67267280	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67267280T>C	ENST00000356404.3	-	8	1310	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E362G|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E362G	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	362					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGAAGACCTCCTCACTGTC	0.592000													10	121					0	0	0.008291	0	0
ZNF513	130557	broad.mit.edu	37	2	27601470	27601470	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:27601470C>T	ENST00000323703.6	-	3	861	c.663G>A	c.(661-663)ctG>ctA	p.L221L	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Silent_p.L159L	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	221					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCGCCTCAGGTTGCCCA	0.682000													15	46					0	0	0.004007	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635216	122635216	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:122635216T>C	ENST00000249284.2	-	1	538	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	158					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGTAGATGCTCCATGGTGAG	0.383000													13	46					0	0	0.001855	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857127	9857127	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:9857127G>C	ENST00000396573.2	-	14	4583	c.4274C>G	c.(4273-4275)tCg>tGg	p.S1425W	GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1425W|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1425W|GRIN2A_ENST00000562109.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1425					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1425L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACATGCTCCGAAATATACAC	0.473000													17	34					0	0	0.004007	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38591744	38591744	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:38591744C>G	ENST00000222345.6	+	6	2416	c.1907C>G	c.(1906-1908)tCc>tGc	p.S636C		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	636	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			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)			GGCCAGAGCTCCGAGGAGGAG	0.607000													8	28					0	0	0.004482	0	0
SLC27A4	10999	broad.mit.edu	37	9	131115719	131115719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:131115719G>A	ENST00000300456.3	+	9	1340	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	408					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TTCAATAGCCGCATCCTGTCC	0.617000													4	91					0	0	0.009096	0	0
KL	9365	broad.mit.edu	37	13	33590903	33590903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:33590903C>G	ENST00000380099.3	+	1	333	c.325C>G	c.(325-327)Ctg>Gtg	p.L109V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	109	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAACGCCAGTCTGCCGTTGGG	0.711000													4	23					0	0	0.009096	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183044	11183044	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:11183044C>G	ENST00000390675.2	-	1	962	c.891G>C	c.(889-891)gtG>gtC	p.V297V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	297					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						CCCAGTACCTCACTTGCCGCA	0.428000													48	182					0	0	0.014410	0	0
ZNF443	10224	broad.mit.edu	37	19	12541320	12541320	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:12541320C>T	ENST00000301547.5	-	4	1863	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	556					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GGCTTCTCTCCAGAGTGAATT	0.388000													11	49					0	0	0.010729	0	0
KDM7A	80853	broad.mit.edu	37	7	139796488	139796488	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:139796488G>A	ENST00000397560.2	-	17	2338	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	JHDM1D_ENST00000006967.5_Silent_p.S747S	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		747					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTAAACACGTGGAATAGTGCA	0.483000													23	64					0	0	0.003330	0	0
KAL1	3730	broad.mit.edu	37	X	8522000	8522000	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:8522000C>G	ENST00000262648.3	-	9	1496	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	449	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TACCTTCTGTCTTCTTCCAGT	0.413000													5	21					0	0	0.001168	0	0
WDR16	146845	broad.mit.edu	37	17	9545105	9545105	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:9545105C>G	ENST00000352665.5	+	13	1709	c.1640C>G	c.(1639-1641)tCg>tGg	p.S547W	WDR16_ENST00000299764.5_Missense_Mutation_p.S557W|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Missense_Mutation_p.S479W	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	547						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGTCTGGGTCGATAAATGGC	0.458000													20	71					0	0	0.010504	0	0
SKI	6497	broad.mit.edu	37	1	2160913	2160913	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:2160913C>T	ENST00000378536.4	+	1	780	c.708C>T	c.(706-708)ctC>ctT	p.L236L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	236					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGCCCGAGCTCTACAGCAGCC	0.682000													10	17					0	0	0.006214	0	0
FLT4	2324	broad.mit.edu	37	5	180047255	180047255	+	Silent	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:180047255C>A	ENST00000261937.6	-	17	2538	c.2460G>T	c.(2458-2460)ggG>ggT	p.G820G	FLT4_ENST00000393347.3_Silent_p.G820G|FLT4_ENST00000502649.1_Silent_p.G820G	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	820					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGCACCTCCCCGGGGTCCA	0.652000													49	48					1.86277e-20	2.12888e-20	0.014410	1	0
RANBP3L	202151	broad.mit.edu	37	5	36265595	36265595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:36265595G>C	ENST00000296604.3	-	5	781	c.296C>G	c.(295-297)tCa>tGa	p.S99*	RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.S124*|RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.S99*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	99					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CACAAGAGCTGATGTCATAAA	0.299000													6	32					0	0	0.001168	0	0
NRG3	10718	broad.mit.edu	37	10	84745207	84745207	+	Missense_Mutation	SNP	G	G	T	rs150401464	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:84745207G>T	ENST00000372142.2	+	11	1620	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L	NRG3_ENST00000372141.2_Missense_Mutation_p.R646L|NRG3_ENST00000556918.1_Missense_Mutation_p.R476L|NRG3_ENST00000537893.1_Missense_Mutation_p.R296L|NRG3_ENST00000545131.1_Missense_Mutation_p.R296L|NRG3_ENST00000404576.2_Missense_Mutation_p.R450L|NRG3_ENST00000404547.1_Missense_Mutation_p.R670L	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	670					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GATGCCAGACGGTCAGAAGAC	0.483000													15	29					2.32078e-09	2.57702e-09	0.003163	1	0
ITGA2	3673	broad.mit.edu	37	5	52351412	52351412	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:52351412C>T	ENST00000296585.5	+	8	967	c.824C>T	c.(823-825)aCg>aTg	p.T275M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	275	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CGAAGTGCTACGAAAGTAATG	0.373000													15	58					0	0	0.002450	0	0
C4orf33	132321	broad.mit.edu	37	4	130023861	130023861	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:130023861G>A	ENST00000281146.4	+	2	817	c.96G>A	c.(94-96)atG>atA	p.M32I	C4orf33_ENST00000425929.1_Missense_Mutation_p.M32I|C4orf33_ENST00000502887.1_Missense_Mutation_p.M32I	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	32										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GAGTGATGATGGACATTAGTG	0.438000													13	48					0	0	0.002450	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011649	46011649	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr21:46011649A>C	ENST00000400368.1	-	1	737	c.717T>G	c.(715-717)tgT>tgG	p.C239W	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	239	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGTGGGCACACAGCACACAG	0.657000													70	197					0	0	0.014410	0	0
PLCE1	51196	broad.mit.edu	37	10	95791437	95791437	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791437G>T	ENST00000260766.3	+	2	1268	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	PLCE1_ENST00000371380.2_Missense_Mutation_p.D212Y	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	212					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.D212N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTTTAGACGATTGTGGAAA	0.388000													16	45					1.62849e-17	1.84913e-17	0.004007	1	0
ZNF28	7576	broad.mit.edu	37	19	53303120	53303120	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53303120C>G	ENST00000438150.2	-	2	2712	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q	ZNF28_ENST00000457749.2_Missense_Mutation_p.E660Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.E607Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.E607Q			P17035	ZNF28_HUMAN	zinc finger protein 28	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TAAGGTTTCTCTCCACTATGA	0.423000													26	231					0	0	0.003330	0	0
BRWD3	254065	broad.mit.edu	37	X	79980467	79980467	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:79980467C>T	ENST00000373275.4	-	15	1702	c.1486G>A	c.(1486-1488)Gac>Aac	p.D496N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	496										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTCCCCCGGTCAAGGTCCCAA	0.388000													8	14					0	0	0.004482	0	0
FAM135B	51059	broad.mit.edu	37	8	139263255	139263255	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:139263255A>C	ENST00000395297.1	-	6	541	c.371T>G	c.(370-372)tTg>tGg	p.L124W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	124										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACATCCCTCAACCTAGAAGG	0.592000										HNSCC(54;0.14)			42	109					0	0	0.011902	0	0
FGGY	55277	broad.mit.edu	37	1	59812064	59812064	+	Silent	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:59812064G>C	ENST00000371218.4	+	4	643	c.459G>C	c.(457-459)ctG>ctC	p.L153L	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Silent_p.L153L|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	153					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TTCTGTGGCTGAAAGAGGTGA	0.498000													9	19					0	0	0.006214	0	0
CKLF	51192	broad.mit.edu	37	16	66597116	66597116	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:66597116G>A	ENST00000264001.4	+	3	478	c.329G>A	c.(328-330)gGa>gAa	p.G110E	CKLF_ENST00000362093.4_Intron|CKLF_ENST00000532838.1_Missense_Mutation_p.G57E|CKLF_ENST00000345436.4_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000351137.4_Missense_Mutation_p.G57E|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000417030.2_Missense_Mutation_p.G110E	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ACAGTTGGTGGAGGGGTAAGT	0.368000													8	35					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179474959	179474959	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179474959C>T	ENST00000589042.1	-	271	51518	c.51294G>A	c.(51292-51294)atG>atA	p.M17098I	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M14530I|TTN_ENST00000342175.6_Missense_Mutation_p.M8225I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M15457I|TTN_ENST00000460472.2_Missense_Mutation_p.M8033I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M8158I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15457	Ig-like 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCACCAGACATGACTGGTA	0.443000													144	169					0	0	0.014410	0	0
ZNF415	55786	broad.mit.edu	37	19	53612314	53612314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:53612314G>T	ENST00000455735.2	-	7	1448	c.1128C>A	c.(1126-1128)taC>taA	p.Y376*	ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Y98*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Y315*|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Y376*|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Y340*			Q09FC8	ZN415_HUMAN	zinc finger protein 415	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTTTACATGTGTAAGGTTTCT	0.398000													40	41					5.71845e-15	6.45159e-15	0.005524	1	0
SLC5A7	60482	broad.mit.edu	37	2	108608589	108608589	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:108608589A>G	ENST00000264047.2	+	3	482	c.206A>G	c.(205-207)aAt>aGt	p.N69S	SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Missense_Mutation_p.N69S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	69					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGGTATATCAATGGCACAGCT	0.458000													16	24					0	0	0.004990	0	0
IDUA	3425	broad.mit.edu	37	4	995557	995557	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:995557C>G	ENST00000453894.1	+	5	627	c.539C>G	c.(538-540)aCc>aGc	p.T180S	IDUA_ENST00000514224.1_Missense_Mutation_p.T95S|IDUA_ENST00000247933.4_Missense_Mutation_p.T227S			P35475	IDUA_HUMAN	iduronidase, alpha-L-	227					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TCCTTCCACACCCCACCGCGA	0.711000													3	16					0	0	0.009096	0	0
ELP4	26610	broad.mit.edu	37	11	31531473	31531473	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:31531473T>C	ENST00000395934.2	+	1	149	c.142T>C	c.(142-144)Tcc>Ccc	p.S48P	ELP4_ENST00000350638.5_Missense_Mutation_p.S48P|ELP4_ENST00000379163.5_Missense_Mutation_p.S48P			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	48					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TCGACTGGTGTCCATTGCGGG	0.627000													27	59					0	0	0.003954	0	0
C6	729	broad.mit.edu	37	5	41143093	41143093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:41143093C>G	ENST00000263413.3	-	18	2903	c.2639G>C	c.(2638-2640)tGt>tCt	p.C880S	C6_ENST00000337836.5_Missense_Mutation_p.C880S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	880	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAGGCAGACACATTTGGAAGT	0.458000													12	53					0	0	0.013537	0	0
TCN1	6947	broad.mit.edu	37	11	59631479	59631479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:59631479C>T	ENST00000257264.3	-	2	264	c.160G>A	c.(160-162)Gct>Act	p.A54T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	54					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATTGACAGCGCTGGTTCCC	0.418000													45	150					0	0	0.009718	0	0
MARCH4	57574	broad.mit.edu	37	2	217124226	217124226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:217124226C>A	ENST00000273067.4	-	4	2808	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	348						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GTCTCCTCTTCCGAGGAGGGG	0.622000													18	27					5.35267e-07	5.86959e-07	0.007413	1	0
FANCL	55120	broad.mit.edu	37	2	58388764	58388764	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:58388764T>C	ENST00000402135.3	-	12	964	c.928A>G	c.(928-930)Atg>Gtg	p.M310V	FANCL_ENST00000403295.3_Missense_Mutation_p.M277V|FANCL_ENST00000233741.4_Missense_Mutation_p.M305V|FANCL_ENST00000403676.1_Missense_Mutation_p.M188V	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	305					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CCACAATCCATAGTAAAATCC	0.333000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				2	19					0	0	0.004672	0	0
CCDC93	54520	broad.mit.edu	37	2	118758500	118758500	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:118758500G>C	ENST00000376300.2	-	4	397	c.260C>G	c.(259-261)tCa>tGa	p.S87*	AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.S87*	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	87										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AATTTTTTCTGACAGAGCTCT	0.463000													14	29					0	0	0.004990	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97935815	97935815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:97935815G>A	ENST00000005260.8	-	11	1392	c.1177C>T	c.(1177-1179)Ccg>Tcg	p.P393S		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	393	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TACGACGACGGGAACCAACCC	0.572000													25	71					0	0	0.004656	0	0
ECE2	9718	broad.mit.edu	37	3	183994461	183994461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:183994461C>T	ENST00000357474.5	+	2	351	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Intron|ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron			O60344	ECE2_HUMAN	endothelin converting enzyme 2	152	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCCACCTCCGCTCCATCTC	0.617000													3	5					0	0	0.009096	0	0
MYH3	4621	broad.mit.edu	37	17	10547749	10547749	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:10547749G>A	ENST00000583535.1	-	14	1416	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	MYH3_ENST00000226209.7_Silent_p.R443R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	443	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTGGTTAATGCGAGTGACCA	0.398000													22	68					0	0	0.012319	0	0
COCH	1690	broad.mit.edu	37	14	31348691	31348691	+	Splice_Site	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:31348691G>C	ENST00000460581.2	+	4	646	c.100_splice	c.e4+1	p.G34_splice	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Splice_Site_p.G146_splice|COCH_ENST00000216361.4_Splice_Site_p.G146_splice|COCH_ENST00000396618.3_Splice_Site_p.G146_splice			O43405	COCH_HUMAN	cochlin	146	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCCACCAACAGGTATGAACTA	0.383000													9	58					0	0	0.008291	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276316	15276316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:15276316C>T	ENST00000263388.2	-	31	5753	c.5678G>A	c.(5677-5679)cGa>cAa	p.R1893Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1893					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGAGCGGTTTCGGATGAGAAT	0.592000													6	22					0	0	0.001168	0	0
POLR1A	25885	broad.mit.edu	37	2	86267597	86267597	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:86267597C>T	ENST00000263857.6	-	25	4036	c.3658G>A	c.(3658-3660)Gga>Aga	p.G1220R	POLR1A_ENST00000409681.1_Missense_Mutation_p.G1220R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1220					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGGGCTCTCCGATGCTCTGG	0.627000													11	41					0	0	0.008291	0	0
C17orf74	201243	broad.mit.edu	37	17	7329885	7329885	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7329885C>T	ENST00000333870.3	+	3	649	c.575C>T	c.(574-576)cCc>cTc	p.P192L	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.A79A	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	192						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GACAACCTGCCCTTCCCGTAT	0.597000													33	157					0	0	0.013726	0	0
FRAS1	80144	broad.mit.edu	37	4	79403007	79403007	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:79403007C>T	ENST00000264895.6	+	57	8933	c.8493C>T	c.(8491-8493)ttC>ttT	p.F2831F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2826	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTCTACTTTCGCATCTGTCT	0.493000													63	180					0	0	0.014410	0	0
ZNF79	7633	broad.mit.edu	37	9	130206706	130206706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:130206706C>T	ENST00000342483.5	+	5	1133	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	ZNF79_ENST00000543471.1_Missense_Mutation_p.H219Y	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCAGAGGATTCACACTGGAGA	0.537000													15	59					0	0	0.002450	0	0
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861042	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:125861042A>T	ENST00000373647.4	+	23	2916	c.2782A>T	c.(2782-2784)Aaa>Taa	p.K928*	RABGAP1_ENST00000373643.5_Nonsense_Mutation_p.K267*	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	928					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATCTGAGATTAAAAAAAACAG	0.398000													10	30					0	0	0.010729	0	0
SYNE1	23345	broad.mit.edu	37	6	152763311	152763311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:152763311C>T	ENST00000367255.5	-	31	4508	c.3907G>A	c.(3907-3909)Gaa>Aaa	p.E1303K	SYNE1_ENST00000413186.2_Missense_Mutation_p.E1303K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1293K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1369K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1303					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCCCCCCTTCTCCCTGCTGC	0.582000										HNSCC(10;0.0054)			18	60					0	0	0.008871	0	0
FLG	2312	broad.mit.edu	37	1	152279854	152279854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:152279854G>A	ENST00000368799.1	-	3	7543	c.7508C>T	c.(7507-7509)gCc>gTc	p.A2503V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2503	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGGGAGGCATCAGACCT	0.547000									Ichthyosis				183	353					0	0	0.014410	0	0
DOK6	220164	broad.mit.edu	37	18	67365664	67365664	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:67365664C>G	ENST00000382713.5	+	5	624	c.434C>G	c.(433-435)cCt>cGt	p.P145R	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	145	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TATCTTATGCCTACACCAAAC	0.398000													11	37					0	0	0.010729	0	0
STXBP2	6813	broad.mit.edu	37	19	7708073	7708073	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:7708073C>G	ENST00000441779.2	+	13	1119	c.1082C>G	c.(1081-1083)gCa>gGa	p.A361G	STXBP2_ENST00000414284.2_Missense_Mutation_p.A347G|STXBP2_ENST00000221283.5_Missense_Mutation_p.A350G	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	350					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCATCTAGCAGATGATTGT	0.587000													9	37					0	0	0.006214	0	0
PLXNA1	5361	broad.mit.edu	37	3	126733043	126733043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:126733043C>T	ENST00000393409.2	+	11	2429	c.2429C>T	c.(2428-2430)cCg>cTg	p.P810L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.P787L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	810					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TACAAGTGCCCGGCCCTGCGC	0.736000													6	25					0	0	0.001168	0	0
SENP1	29843	broad.mit.edu	37	12	48477537	48477537	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:48477537G>C	ENST00000004980.5	-	6	867	c.389C>G	c.(388-390)tCa>tGa	p.S130*	SENP1_ENST00000549518.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000448372.1_Nonsense_Mutation_p.S130*			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	130	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAAACTGTTTGATAATCCACT	0.313000													10	37					0	0	0.010729	0	0
NUTM1	256646	broad.mit.edu	37	15	34649168	34649168	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:34649168G>T	ENST00000537011.1	+	8	3341	c.2959G>T	c.(2959-2961)Ggg>Tgg	p.G987W	NUTM1_ENST00000438749.3_Missense_Mutation_p.G977W|NUTM1_ENST00000333756.4_Missense_Mutation_p.G959W					NUT midline carcinoma, family member 1																		TTACACAACTGGGACTCCCAA	0.483000													15	26					4.93089e-13	5.52762e-13	0.002450	1	0
LOC440040	440040	broad.mit.edu	37	11	49831788	49831788	+	RNA	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:49831788C>T	ENST00000527477.1	+	0	2013																											CTGTATTCATCTCTGACCAGA	0.433000													17	202					0	0	0.007413	0	0
SPTBN2	6712	broad.mit.edu	37	11	66488701	66488701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:66488701G>A	ENST00000533211.1	-	3	342	c.11C>T	c.(10-12)aCg>aTg	p.T4M	SPTBN2_ENST00000529997.1_Missense_Mutation_p.T4M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T4M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	4	Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGGTGACAGCGTGCTGCTCAT	0.602000													20	125					0	0	0.010504	0	0
YME1L1	10730	broad.mit.edu	37	10	27423860	27423860	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:27423860G>A	ENST00000326799.3	-	7	910	c.762C>T	c.(760-762)ctC>ctT	p.L254L	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Silent_p.L164L|YME1L1_ENST00000376016.3_Silent_p.L197L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	254					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGTTTTCATGAGTTTGTCCA	0.393000													14	37					0	0	0.001855	0	0
NIPBL	25836	broad.mit.edu	37	5	37048678	37048678	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:37048678G>C	ENST00000282516.8	+	39	7163	c.6664G>C	c.(6664-6666)Gat>Cat	p.D2222H	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2222H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2222					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TATTTTATCTGATAAGAACTC	0.363000													13	37					0	0	0.001855	0	0
CACNA1D	776	broad.mit.edu	37	3	53757958	53757958	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:53757958T>A	ENST00000288139.3	+	15	2210	c.2092T>A	c.(2092-2094)Ttt>Att	p.F698I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.F678I|CACNA1D_ENST00000350061.5_Missense_Mutation_p.F678I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	678					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAAGTTTAATTTTGATGAAAC	0.463000													15	39					0	0	0.002450	0	0
RALGDS	5900	broad.mit.edu	37	9	135984211	135984211	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:135984211C>T	ENST00000393160.3	-	5	815	c.462G>A	c.(460-462)tcG>tcA	p.S154S	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Silent_p.S197S|RALGDS_ENST00000542690.1_Silent_p.S280S|RALGDS_ENST00000372050.3_Silent_p.S209S|RALGDS_ENST00000372062.3_Silent_p.S180S|RALGDS_ENST00000393157.3_Silent_p.S208S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	209	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGAAATCCTCCGAGTACTGGT	0.647000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								5	33					0	0	0.000602	0	0
MGAT3	4248	broad.mit.edu	37	22	39883764	39883764	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:39883764G>A	ENST00000341184.6	+	2	627	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	138					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGAGAAGCCTGAGGGGGCCAA	0.741000													4	11					0	0	0.009096	0	0
SLC6A20	54716	broad.mit.edu	37	3	45804560	45804560	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:45804560C>G	ENST00000358525.4	-	9	1423	c.1308G>C	c.(1306-1308)ctG>ctC	p.L436L	SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000456124.2_Silent_p.L436L|SLC6A20_ENST00000353278.4_Silent_p.L399L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	436					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAAGGCACACCAGACCTGGGG	0.592000													13	55					0	0	0.004007	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318895	21318895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:21318895C>T	ENST00000583088.1	+	3	1136	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81W	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.R81G(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CATCCGCTGGCGGTACATGCT	0.577000										Prostate(3;0.18)			9	89					0	0	0.006214	0	0
NDN	4692	broad.mit.edu	37	15	23932088	23932088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:23932088G>A	ENST00000331837.4	-	1	362	c.277C>T	c.(277-279)Cca>Tca	p.P93S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	93					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCGGGGCTGGCGGTGCCGGG	0.697000									Prader-Willi syndrome				8	31					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	44					0	0	0.013537	0	0
ZNF300	91975	broad.mit.edu	37	5	150276445	150276445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:150276445C>T	ENST00000446148.2	-	7	831	c.404G>A	c.(403-405)gGt>gAt	p.G135D	ZNF300_ENST00000394226.2_Missense_Mutation_p.G119D|ZNF300_ENST00000274599.5_Missense_Mutation_p.G119D|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.G83D	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACAATGAACCATCCCTTGT	0.413000													26	24					0	0	0.003330	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495873	6495873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:6495873G>A	ENST00000264071.2	-	4	1008	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R213C			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	213					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TTGAGGGTGCGGAAACAGATG	0.627000													31	105					0	0	0.008361	0	0
MYH11	4629	broad.mit.edu	37	16	15832485	15832485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:15832485C>T	ENST00000338282.6	-	24	3164	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	MYH11_ENST00000396324.3_Missense_Mutation_p.E1027K|MYH11_ENST00000452625.2_Missense_Mutation_p.E1027K|MYH11_ENST00000576790.1_Missense_Mutation_p.E1020K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1020K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1020					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGGCCTTTTCTTCCTCTTCT	0.358000			T	CBFB	AML								12	71					0	0	0.001855	0	0
COG5	10466	broad.mit.edu	37	7	107204296	107204296	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:107204296G>C	ENST00000393603.2	-	1	410	c.139C>G	c.(139-141)Cga>Gga	p.R47G	COG5_ENST00000297135.3_Missense_Mutation_p.R47G|COG5_ENST00000347053.3_Missense_Mutation_p.R47G|DUS4L_ENST00000498786.1_Intron	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	47					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCAGAGCCTCGAGCTCCGAGG	0.667000													28	50					0	0	0.010818	0	0
SIX6	4990	broad.mit.edu	37	14	60976681	60976681	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:60976681A>T	ENST00000327720.5	+	1	1013	c.565A>T	c.(565-567)Aag>Tag	p.K189*		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	189					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGCTGCAGCCAAGAACAGGTC	0.647000													6	12					0	0	0.001168	0	0
BCAS1	8537	broad.mit.edu	37	20	52609131	52609131	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:52609131T>A	ENST00000371440.3	-	7	1319	c.982A>T	c.(982-984)Atc>Ttc	p.I328F	BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000434986.2_Missense_Mutation_p.I41F|BCAS1_ENST00000395961.3_Intron			O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	309						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTAGCCTGGATCTCGGATGTC	0.453000													8	36					0	0	0.003080	0	0
SSH3	54961	broad.mit.edu	37	11	67077772	67077772	+	Nonsense_Mutation	SNP	G	G	T	rs148598265		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67077772G>T	ENST00000308127.4	+	13	1823	c.1645G>T	c.(1645-1647)Gag>Tag	p.E549*	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	549					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCTCCTTGGAGCTGGAGAG	0.632000													13	188					4.3838e-07	4.82218e-07	0.001855	1	0
DNAH11	8701	broad.mit.edu	37	7	21646281	21646281	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:21646281T>C	ENST00000328843.6	+	20	3813	c.3782T>C	c.(3781-3783)tTc>tCc	p.F1261S	DNAH11_ENST00000409508.3_Missense_Mutation_p.F1261S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1261	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGGCAGAGTTCAGAGAGAGA	0.338000									Kartagener syndrome				3	10					0	0	0.009096	0	0
SLC7A6OS	84138	broad.mit.edu	37	16	68344297	68344297	+	Silent	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:68344297A>G	ENST00000263997.6	-	2	430	c.412T>C	c.(412-414)Ttg>Ctg	p.L138L		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	138					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		AGGTCTAACAACTGAAAGCCC	0.627000													10	12					0	0	0.006214	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995473	140995473	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:140995473G>A	ENST00000285879.4	+	4	2569	c.2283G>A	c.(2281-2283)gaG>gaA	p.E761E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	761							protein binding			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)					GTTTCCCTGAGAGTCCTCAGA	0.542000										HNSCC(15;0.026)			82	238					0	0	0.014410	0	0
EPHB6	2051	broad.mit.edu	37	7	142566409	142566409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:142566409G>A	ENST00000392957.2	+	15	2985	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q	EPHB6_ENST00000411471.2_Missense_Mutation_p.R456Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.R733Q	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	733	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			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)					AACATCCTGCGGCTGGAGGGC	0.677000													21	36					0	0	0.010504	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889205	18889205	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:18889205C>G	ENST00000266505.7	-	3	348	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q	PLCZ1_ENST00000539875.1_Missense_Mutation_p.E29Q|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E27Q|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E27Q			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	29					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCTAATTTTTCAAGTAACCTC	0.353000													8	26					0	0	0.003080	0	0
PRR5L	79899	broad.mit.edu	37	11	36472865	36472865	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:36472865C>G	ENST00000378867.3	+	9	1047	c.692C>G	c.(691-693)tCa>tGa	p.S231*	PRR5L_ENST00000530639.1_Nonsense_Mutation_p.S231*|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.S158*|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	231										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CGTAGCTTCTCAGGCCCCACG	0.537000													13	37					0	0	0.001855	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143901	55143901	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr18:55143901C>T	ENST00000491143.2	+	2	1493	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	487					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGTGGCAAGACGATCTGAGCA	0.572000													7	35					0	0	0.003080	0	0
ZNF697	90874	broad.mit.edu	37	1	120165638	120165638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:120165638C>T	ENST00000421812.2	-	3	1447	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAAGCCCTTCCCGCACTCGCG	0.667000													3	6					0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82579179	82579179	+	Silent	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:82579179T>A	ENST00000423517.2	-	6	11062	c.10725A>T	c.(10723-10725)acA>acT	p.T3575T	PCLO_ENST00000333891.8_Silent_p.T3575T|PCLO_ENST00000437081.1_Silent_p.T295T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3506					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGACTTTGTGTGTCTGAAT	0.438000													18	48					0	0	0.008871	0	0
C15orf27	123591	broad.mit.edu	37	15	76467994	76467994	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:76467994G>A	ENST00000388942.3	+	8	1023	c.747G>A	c.(745-747)acG>acA	p.T249T	RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	249						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGAGGCTGACGCAGATCTGTC	0.562000													14	55					0	0	0.004007	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816564	67816564	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:67816564C>T	ENST00000265686.3	+	15	1798	c.1690C>T	c.(1690-1692)Cac>Tac	p.H564Y	TCIRG1_ENST00000532635.1_Missense_Mutation_p.H348Y	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	564					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGGCCAGAGGCACCGGCTGCT	0.657000													23	238					0	0	0.014323	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926322	45926322	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:45926322C>G	ENST00000395629.2	+	9	2130	c.1800C>G	c.(1798-1800)gtC>gtG	p.V600V	MAPK8IP1_ENST00000241014.2_Silent_p.V610V			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	610	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCAGCTGTGTCCTGGAGATCA	0.607000													28	86					0	0	0.004656	0	0
LONRF2	164832	broad.mit.edu	37	2	100916183	100916183	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:100916183C>T	ENST00000393437.3	-	5	1902	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K	LONRF2_ENST00000409647.1_Silent_p.K178K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	421					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ACTGACCTTTCTTGGGAATTT	0.408000													22	68					0	0	0.014323	0	0
EP300	2033	broad.mit.edu	37	22	41573028	41573028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:41573028C>A	ENST00000263253.7	+	31	6532	c.5313C>A	c.(5311-5313)tgC>tgA	p.C1771*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1771	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAGGGTTGCAAACGGAAAA	0.567000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				9	38					3.86212e-05	4.22194e-05	0.008291	1	0
CTAG2	30848	broad.mit.edu	37	X	153880412	153880412	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:153880412C>T	ENST00000369585.3	-	3	586	c.534G>A	c.(532-534)caG>caA	p.Q178Q	CTAG2_ENST00000247306.4_3'UTR	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	0						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTAGCGCCTCTGCCCTGAGG	0.602000													22	56					0	0	0.014323	0	0
TMCC3	57458	broad.mit.edu	37	12	94975422	94975422	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:94975422T>A	ENST00000261226.4	-	2	1102	c.971A>T	c.(970-972)cAg>cTg	p.Q324L	TMCC3_ENST00000551457.1_Missense_Mutation_p.Q293L	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	324						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTGCAGGGTCTGAGAAATAAA	0.353000													15	50					0	0	0.003163	0	0
VPS13A	23230	broad.mit.edu	37	9	79910535	79910535	+	Silent	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:79910535T>G	ENST00000360280.3	+	33	3845	c.3585T>G	c.(3583-3585)acT>acG	p.T1195T	VPS13A_ENST00000357409.5_Silent_p.T1195T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.T1195T|VPS13A_ENST00000376636.3_Silent_p.T1156T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1195					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGCTGCTACTGGTGTAAAAG	0.433000													9	50					0	0	0.004482	0	0
LAMA2	3908	broad.mit.edu	37	6	129635848	129635848	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:129635848G>A	ENST00000421865.2	+	24	3509	c.3460G>A	c.(3460-3462)Gga>Aga	p.G1154R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1154	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGCAAATTCGGACTCGATGC	0.527000													9	37					0	0	0.006214	0	0
CPSF7	79869	broad.mit.edu	37	11	61188974	61188974	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:61188974G>C	ENST00000340437.4	-	3	370	c.290C>G	c.(289-291)cCt>cGt	p.P97R	CPSF7_ENST00000541963.1_Missense_Mutation_p.P54R|CPSF7_ENST00000448745.1_Missense_Mutation_p.P54R|CPSF7_ENST00000439958.3_Missense_Mutation_p.P54R|CPSF7_ENST00000394888.4_Missense_Mutation_p.P54R	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	54	RRM.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTGGCGAACAGGAGGAGGTGG	0.522000													19	79					0	0	0.006122	0	0
BFSP1	631	broad.mit.edu	37	20	17475534	17475534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr20:17475534C>G	ENST00000377873.3	-	8	1222	c.1183G>C	c.(1183-1185)Gaa>Caa	p.E395Q	BFSP1_ENST00000544874.1_Missense_Mutation_p.E256Q|BFSP1_ENST00000377868.2_Missense_Mutation_p.E270Q|BFSP1_ENST00000536626.1_Missense_Mutation_p.E256Q	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	395	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTGTGTCTTCCAAACCTTTT	0.413000													48	74					0	0	0.014410	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482313	140482313	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:140482313T>C	ENST00000231130.2	+	1	2080	c.2080T>C	c.(2080-2082)Ttg>Ctg	p.L694L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		694					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCATTGGCCTCGGT	0.687000													10	67					0	0	0.010504	0	0
GLIS3	169792	broad.mit.edu	37	9	3937164	3937164	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:3937164G>A	ENST00000324333.10	-	4	1464	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	GLIS3_ENST00000381971.3_Missense_Mutation_p.S579L|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	424					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCAAGCCTTGAAAAGGCCTT	0.458000													9	69					0	0	0.008291	0	0
GDF3	9573	broad.mit.edu	37	12	7842822	7842822	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:7842822C>G	ENST00000329913.3	-	2	794	c.747G>C	c.(745-747)agG>agC	p.R249S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	249					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCTGCTCTCCTTTTCCGAG	0.537000													20	59					0	0	0.014323	0	0
C7orf33	202865	broad.mit.edu	37	7	148288041	148288041	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:148288041C>G	ENST00000307003.2	+	1	385	c.24C>G	c.(22-24)ctC>ctG	p.L8L		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	8										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTCAAAGCCTCAGCCTTGAAG	0.537000													10	65					0	0	0.008291	0	0
TNIK	23043	broad.mit.edu	37	3	170802911	170802911	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:170802911G>A	ENST00000436636.2	-	25	3338	c.2994C>T	c.(2992-2994)gcC>gcT	p.A998A	TNIK_ENST00000538048.1_Silent_p.A950A|TNIK_ENST00000369326.5_Silent_p.A976A|TNIK_ENST00000488470.1_Silent_p.A943A|TNIK_ENST00000475336.1_Silent_p.A906A|TNIK_ENST00000470834.1_Silent_p.A961A|TNIK_ENST00000357327.5_Silent_p.A969A|TNIK_ENST00000341852.6_Silent_p.A914A|TNIK_ENST00000284483.8_Silent_p.A990A|TNIK_ENST00000460047.1_Silent_p.A935A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	998	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.A998A(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTTACCTGCGGCTGATGATT	0.483000													3	8					0	0	0.004672	0	0
MKL1	57591	broad.mit.edu	37	22	40815316	40815316	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:40815316G>A	ENST00000396617.3	-	12	1716	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	MKL1_ENST00000407029.1_Missense_Mutation_p.R376C|MKL1_ENST00000355630.3_Missense_Mutation_p.R376C|MKL1_ENST00000402042.1_Missense_Mutation_p.R326C			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	376	SAP.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTCGAAGGCGCTCAATCAGC	0.607000			T	RBM15	acute megakaryocytic leukemia								8	26					0	0	0.006214	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54975892	54975892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:54975892G>A	ENST00000257905.8	-	5	441	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732.3	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	91					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						TGCCCCAGGTGATGTTCAACC	0.592000													12	27					0	0	0.002450	0	0
TRMU	55687	broad.mit.edu	37	22	46751462	46751462	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:46751462G>C	ENST00000290846.4	+	9	1335	c.995G>C	c.(994-996)cGa>cCa	p.R332P	TRMU_ENST00000381019.3_Missense_Mutation_p.R332P	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	332						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TGCCACTTCCGATTCCGCCAC	0.642000											OREG0026654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	33					0	0	0.010504	0	0
MNT	4335	broad.mit.edu	37	17	2298449	2298449	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:2298449C>T	ENST00000174618.4	-	2	778	c.373G>A	c.(373-375)Ggc>Agc	p.G125S		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	125					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CCGGGGGCGCCAACCAGGGCC	0.721000													4	7					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179434801	179434801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179434801C>G	ENST00000589042.1	-	326	76282	c.76058G>C	c.(76057-76059)aGa>aCa	p.R25353T	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22785T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16480T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23712T|TTN_ENST00000460472.2_Missense_Mutation_p.R16288T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16413T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23712	Fibronectin type-III 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTATGGCATCTTGTCCATCT	0.423000													3	141					0	0	0.004672	0	0
SLC2A14	144195	broad.mit.edu	37	12	7980270	7980270	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:7980270G>A	ENST00000543909.1	-	12	1513	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	SLC2A14_ENST00000542546.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R229W|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R252W|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R229W|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R267W			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	252					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCCCACAACCGCTGGAGGACT	0.507000													7	46					0	0	0.013537	0	0
CERS6	253782	broad.mit.edu	37	2	169417810	169417810	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:169417810C>G	ENST00000305747.6	+	3	972	c.385C>G	c.(385-387)Ctg>Gtg	p.L129V	CERS6_ENST00000392687.4_Missense_Mutation_p.L129V	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	129						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCCAAGCACGCTGACGAGGTT	0.448000													15	100					0	0	0.004007	0	0
BDNF	627	broad.mit.edu	37	11	27679532	27679532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:27679532C>T	ENST00000525528.1	-	1	1673	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.E194K|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395981.3_Missense_Mutation_p.E194K|BDNF_ENST00000395983.3_Missense_Mutation_p.E194K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.E194K|BDNF_ENST00000395986.2_Missense_Mutation_p.E209K|BDNF_ENST00000356660.4_Missense_Mutation_p.E194K|BDNF_ENST00000395978.3_Missense_Mutation_p.E194K|BDNF_ENST00000418212.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.E276K|BDNF_ENST00000420794.1_Missense_Mutation_p.E194K|BDNF_ENST00000314915.6_Missense_Mutation_p.E202K|BDNF_ENST00000395980.2_Missense_Mutation_p.E194K|BDNF_ENST00000533246.1_Missense_Mutation_p.E194K|BDNF_ENST00000533131.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.E194K|BDNF_ENST00000584049.1_5'UTR	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	194						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CTGCAGCCTTCTTTTGTGTAA	0.512000													38	108					0	0	0.005524	0	0
RBM34	23029	broad.mit.edu	37	1	235295270	235295270	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:235295270C>G	ENST00000408888.3	-	11	1281	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	RBM34_ENST00000366606.3_Missense_Mutation_p.E346Q|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	351	RRM 2.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CCCATGAGTTCAGAATTATTT	0.318000													12	43					0	0	0.001855	0	0
LAMA4	3910	broad.mit.edu	37	6	112465999	112465999	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:112465999G>C	ENST00000230538.7	-	19	2887	c.2490C>G	c.(2488-2490)agC>agG	p.S830R	LAMA4_ENST00000389463.4_Missense_Mutation_p.S823R|LAMA4_ENST00000424408.2_Missense_Mutation_p.S823R|LAMA4_ENST00000522006.1_Missense_Mutation_p.S823R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	830	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTACCTTGCTGGCAACAC	0.512000													21	82					0	0	0.012319	0	0
ALOXE3	59344	broad.mit.edu	37	17	8021162	8021162	+	Splice_Site	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:8021162C>T	ENST00000380149.1	-	1	645	c.615_splice	c.e1+1	p.S205_splice	ALOXE3_ENST00000318227.3_Splice_Site_p.S181_splice|ALOXE3_ENST00000448843.2_Splice_Site_p.S49_splice			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	49	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TTGTACTCACCGATCCAGGGG	0.612000													4	24					0	0	0.000602	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394516	233394516	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:233394516G>A	ENST00000258229.8	-	5	1326	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	364						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGGGTCTCCGGGTTGAGAAG	0.517000													29	119					0	0	0.005443	0	0
UNC13B	10497	broad.mit.edu	37	9	35403456	35403456	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35403456C>T	ENST00000378495.3	+	38	4572	c.4350C>T	c.(4348-4350)ctC>ctT	p.L1450L	UNC13B_ENST00000396787.1_Silent_p.L1481L|UNC13B_ENST00000378496.4_Silent_p.L1469L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1450	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAATGACCTCAAGTGGCAGA	0.532000													27	47					0	0	0.008361	0	0
PUS7	54517	broad.mit.edu	37	7	105098338	105098338	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:105098338G>C	ENST00000356362.2	-	16	2099	c.1885C>G	c.(1885-1887)Cta>Gta	p.L629V	PUS7_ENST00000469408.1_Missense_Mutation_p.L629V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	629					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GAAGGGGGTAGAGAAAAATCC	0.473000													32	88					0	0	0.010818	0	0
PLCE1	51196	broad.mit.edu	37	10	95791019	95791019	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:95791019T>C	ENST00000260766.3	+	2	850	c.216T>C	c.(214-216)atT>atC	p.I72I	PLCE1_ENST00000371380.2_Silent_p.I72I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	72					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCCAAAGATTCTCTCAATAG	0.393000													14	29					0	0	0.004007	0	0
FREM1	158326	broad.mit.edu	37	9	14848678	14848678	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:14848678C>A	ENST00000380881.4	-	8	2064	c.1249G>T	c.(1249-1251)Gta>Tta	p.V417L	FREM1_ENST00000422223.2_Missense_Mutation_p.V416L|FREM1_ENST00000380880.3_Missense_Mutation_p.V416L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	416					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCCAGGATACACGGGGGGCA	0.423000													19	42					1.28384e-07	1.4211e-07	0.012319	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147336299	147336299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:147336299G>A	ENST00000361727.3	+	13	2515	c.1999G>A	c.(1999-2001)Gcc>Acc	p.A667T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	667	Fibrinogen C-terminal.				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.A667T(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)			CGTTTACAGCGCCTCCATGGA	0.502000										HNSCC(39;0.1)			18	49					0	0	0.006122	0	0
ST5	6764	broad.mit.edu	37	11	8736175	8736175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:8736175C>T	ENST00000534127.1	-	10	2309	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	ST5_ENST00000530438.1_Missense_Mutation_p.E222K|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.E114K|ST5_ENST00000357665.1_Missense_Mutation_p.E642K|ST5_ENST00000313726.6_Missense_Mutation_p.E642K|ST5_ENST00000526757.1_Missense_Mutation_p.E222K|ST5_ENST00000526099.1_Missense_Mutation_p.E155K	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	642					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GATGCTGTTTCAATGCTGGAC	0.468000													6	27					0	0	0.001168	0	0
AGPAT1	10554	broad.mit.edu	37	6	32137994	32137994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:32137994C>G	ENST00000395499.1	-	5	1133	c.554G>C	c.(553-555)gGc>gCc	p.G185A	PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000412465.2_Missense_Mutation_p.G73A|AGPAT1_ENST00000395496.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.G185A|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G185A|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G185A			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	185					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CAGCATGGAGCCATTGTGGTT	0.537000													7	12					0	0	0.001984	0	0
PARP14	54625	broad.mit.edu	37	3	122420364	122420364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:122420364C>T	ENST00000474629.2	+	6	3229	c.2963C>T	c.(2962-2964)cCg>cTg	p.P988L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	988					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACAGCTGCCCCGCCAGGTTTA	0.522000													4	17					0	0	0.000602	0	0
CMTR1	23070	broad.mit.edu	37	6	37411845	37411845	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:37411845C>T	ENST00000373451.4	+	3	368	c.204C>T	c.(202-204)gaC>gaT	p.D68D		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		68					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ACTCTTTTGACGATGCATTCA	0.433000													40	52					0	0	0.007835	0	0
CD19	930	broad.mit.edu	37	16	28948971	28948971	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:28948971G>A	ENST00000538922.1	+	11	1461	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CD19_ENST00000567541.1_Missense_Mutation_p.E467K|CD19_ENST00000324662.3_Missense_Mutation_p.E467K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	467					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CGAGGATGAAGAGCTGACCCA	0.567000													19	35					0	0	0.006122	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	25					0	0	0.009096	0	0
MYLK3	91807	broad.mit.edu	37	16	46741676	46741676	+	Splice_Site	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:46741676C>T	ENST00000394809.4	-	13	2516		c.e13-1		MYLK3_ENST00000562104.1_Splice_Site|MYLK3_ENST00000536476.1_Splice_Site	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3						cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGAAATGTTTCTTGAGGCAAG	0.393000													13	47					0	0	0.001855	0	0
FAM46B	115572	broad.mit.edu	37	1	27332876	27332876	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:27332876G>A	ENST00000289166.5	-	2	1002	c.837C>T	c.(835-837)ctC>ctT	p.L279L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	279										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGTACTTGAGGAGGCCACCAC	0.677000													9	18					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179616442	179616442	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:179616442G>A	ENST00000360870.5	-	46	10907	c.10685C>T	c.(10684-10686)tCt>tTt	p.S3562F	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3558	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGCTGGAAGAGTGATGGTG	0.423000													41	101					0	0	0.007835	0	0
FAT1	2195	broad.mit.edu	37	4	187539252	187539252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:187539252G>A	ENST00000441802.2	-	10	8697	c.8488C>T	c.(8488-8490)Cag>Tag	p.Q2830*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2830	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCCTGATCTGAATTACTCTA	0.438000										HNSCC(5;0.00058)			35	72					0	0	0.004289	0	0
EYS	346007	broad.mit.edu	37	6	66204916	66204916	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:66204916G>T	ENST00000503581.1	-	4	925	c.388C>A	c.(388-390)Cta>Ata	p.L130I	EYS_ENST00000370621.3_Missense_Mutation_p.L130I|EYS_ENST00000342421.5_Missense_Mutation_p.L130I|EYS_ENST00000370618.3_Missense_Mutation_p.L130I|EYS_ENST00000393380.2_Missense_Mutation_p.L130I|EYS_ENST00000370616.2_Missense_Mutation_p.L130I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	130					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCCTTTTAGTCTGCAGCCA	0.393000													11	23					6.40141e-05	6.97615e-05	0.010729	1	0
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													3	19					0	0	0.004672	0	0
CEP350	9857	broad.mit.edu	37	1	179989427	179989427	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:179989427G>C	ENST00000367607.3	+	12	2936	c.2518G>C	c.(2518-2520)Gaa>Caa	p.E840Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	840						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGCAGAATTGAAAGTGAAGC	0.448000													57	169					0	0	0.014410	0	0
TRIM26	7726	broad.mit.edu	37	6	30154334	30154334	+	Splice_Site	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:30154334C>T	ENST00000454678.2	-	10	1375	c.937_splice	c.e10-1	p.V313_splice	TRIM26_ENST00000437089.1_Splice_Site_p.V313_splice|TRIM26_ENST00000453195.1_Splice_Site_p.V313_splice	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	313	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GGGTGACGCTCACTGTGGGGA	0.468000													15	41					0	0	0.003163	0	0
USP8	9101	broad.mit.edu	37	15	50774167	50774167	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:50774167G>C	ENST00000433963.1	+	12	2208	c.1708G>C	c.(1708-1710)Gat>Cat	p.D570H	USP8_ENST00000396444.3_Missense_Mutation_p.D570H|USP8_ENST00000425032.3_Missense_Mutation_p.D493H|USP8_ENST00000307179.4_Missense_Mutation_p.D570H	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	570					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCTGTAGAAGATAGGGGGAA	0.418000													10	29					0	0	0.006214	0	0
DFNB31	25861	broad.mit.edu	37	9	117266938	117266938	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:117266938C>T	ENST00000362057.3	-	1	312	c.144G>A	c.(142-144)gcG>gcA	p.A48A	DFNB31_ENST00000374057.3_Silent_p.A48A	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	48					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCTCAGCAGCGCGGTCAGCG	0.746000													8	33					0	0	0.003080	0	0
GPR112	139378	broad.mit.edu	37	X	135431707	135431707	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:135431707A>T	ENST00000394143.1	+	6	6133	c.5842A>T	c.(5842-5844)Aac>Tac	p.N1948Y	GPR112_ENST00000412101.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000394141.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000370652.1_Missense_Mutation_p.N1948Y|GPR112_ENST00000287534.4_Missense_Mutation_p.N1885Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1948					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATTCTTCCTAACCATGGGCT	0.418000													6	147					0	0	0.001984	0	0
YWHAE	7531	broad.mit.edu	37	17	1303386	1303386	+	Translation_Start_Site	SNP	G	G	C	rs11552915		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:1303386G>C	ENST00000571732.1	-	0	128				YWHAE_ENST00000573026.1_Missense_Mutation_p.L7V|YWHAE_ENST00000264335.8_Missense_Mutation_p.L7V|YWHAE_ENST00000575977.1_Missense_Mutation_p.L7V|YWHAE_ENST00000498643.1_5'UTR			P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide						apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TGGTACACCAGATCCTCTCGA	0.662000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						19	99					0	0	0.012319	0	0
LRP1	4035	broad.mit.edu	37	12	57538855	57538855	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:57538855G>A	ENST00000243077.3	+	5	1015	c.549G>A	c.(547-549)ccG>ccA	p.P183P	RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000553277.1_Silent_p.P183P|LRP1_ENST00000554174.1_Silent_p.P183P|LRP1_ENST00000338962.4_Silent_p.P183P	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	183	EGF-like 2; calcium-binding (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTGCAGCCGGATAACCGCT	0.572000													17	31					0	0	0.004007	0	0
SACS	26278	broad.mit.edu	37	13	23913048	23913048	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr13:23913048A>C	ENST00000382298.3	-	10	5555	c.4967T>G	c.(4966-4968)gTg>gGg	p.V1656G	SACS_ENST00000382292.3_Missense_Mutation_p.V1656G|SACS_ENST00000402364.1_Missense_Mutation_p.V906G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1656					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTTCACTCACTTTTGCTTC	0.398000													16	41					0	0	0.004990	0	0
ALLC	55821	broad.mit.edu	37	2	3749215	3749215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:3749215C>T	ENST00000252505.3	+	11	1126	c.964C>T	c.(964-966)Cca>Tca	p.P322S	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	341							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACCACTGCTTCCAGTGACCAA	0.488000										HNSCC(21;0.051)			6	13					0	0	0.001168	0	0
LMTK2	22853	broad.mit.edu	37	7	97832936	97832936	+	Silent	SNP	G	G	A	rs146973469	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr7:97832936G>A	ENST00000297293.5	+	12	4451	c.4158G>A	c.(4156-4158)ccG>ccA	p.P1386P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1386					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGTGCGGCCCGGACCTGAGCG	0.597000													11	26					0	0	0.010729	0	0
LEPR	3953	broad.mit.edu	37	1	66101886	66101886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:66101886G>C	ENST00000349533.6	+	20	2871	c.2686G>C	c.(2686-2688)Gag>Cag	p.E896Q	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	896	Required for JAK2 activation (By similarity).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGAAACGTTTGAGCATCTTTT	0.348000													29	95					0	0	0.005443	0	0
TTBK1	84630	broad.mit.edu	37	6	43214425	43214425	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:43214425G>A	ENST00000259750.4	+	2	110	c.27G>A	c.(25-27)aaG>aaA	p.K9K		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	9						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCGCCCTTAAGGACGAAACCA	0.672000													10	34					0	0	0.006214	0	0
LDHC	3948	broad.mit.edu	37	11	18456337	18456337	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:18456337C>T	ENST00000541669.1	+	5	580	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	LDHC_ENST00000280704.4_Missense_Mutation_p.R157C|LDHC_ENST00000546146.1_Missense_Mutation_p.R99C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000535809.1_Missense_Mutation_p.R157C			P07864	LDHC_HUMAN	lactate dehydrogenase C	157					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ACCTGTAACTCGTGTAATTGG	0.368000													40	75					0	0	0.006999	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675521	77675521	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:77675521C>T	ENST00000296043.6	+	7	4838	c.3885C>T	c.(3883-3885)ctC>ctT	p.L1295L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1295					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			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)			TCCACCATCTCACCCCTCGTT	0.542000													41	133					0	0	0.007835	0	0
UNC13B	10497	broad.mit.edu	37	9	35385812	35385812	+	Splice_Site	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:35385812T>C	ENST00000378495.3	+	22	2940		c.e22+2		UNC13B_ENST00000396787.1_Splice_Site|UNC13B_ENST00000378496.4_Splice_Site	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGAATGAAGGTAAGAAATGGA	0.483000													27	97					0	0	0.006320	0	0
ACACB	32	broad.mit.edu	37	12	109673414	109673414	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:109673414G>C	ENST00000338432.7	+	33	4527	c.4408G>C	c.(4408-4410)Gaa>Caa	p.E1470Q	ACACB_ENST00000377854.5_Missense_Mutation_p.E1400Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E1470Q|ACACB_ENST00000543201.1_Missense_Mutation_p.E136Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1470					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTTGCAGAAAGAATTTCCCAA	0.328000													12	20					0	0	0.013537	0	0
ZNF449	203523	broad.mit.edu	37	X	134494925	134494925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:134494925C>T	ENST00000339249.4	+	5	1621	c.1481C>T	c.(1480-1482)aCt>aTt	p.T494I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	494					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACAAGTGTACTCATTGTTCT	0.393000													92	135					0	0	0.014410	0	0
TRIO	7204	broad.mit.edu	37	5	14406048	14406048	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:14406048A>G	ENST00000344204.4	+	32	4832	c.4808A>G	c.(4807-4809)gAg>gGg	p.E1603G	TRIO_ENST00000537187.1_Missense_Mutation_p.E1603G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1603					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCCTGAAGGAGCCCATTCAC	0.577000													10	25					0	0	0.006214	0	0
NIN	51199	broad.mit.edu	37	14	51224285	51224285	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:51224285G>A	ENST00000245441.5	-	18	3653	c.3463C>T	c.(3463-3465)Ctg>Ttg	p.L1155L	NIN_ENST00000530997.2_Silent_p.L1155L|NIN_ENST00000453196.1_Silent_p.L1155L|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Silent_p.L1155L|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Silent_p.L1155L	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1155					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTACTTCCCAGGTCCCGGACC	0.478000			T	PDGFRB	MPD								23	208					0	0	0.014323	0	0
COL14A1	7373	broad.mit.edu	37	8	121290786	121290786	+	Silent	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:121290786G>C	ENST00000297848.3	+	28	3720	c.3450G>C	c.(3448-3450)gtG>gtC	p.V1150V	COL14A1_ENST00000309791.4_Silent_p.V1150V|COL14A1_ENST00000247781.3_Silent_p.V1055V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1150	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGATGATGTGAACAAAATCT	0.353000													18	18					0	0	0.008871	0	0
OTOP1	133060	broad.mit.edu	37	4	4199228	4199228	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr4:4199228C>G	ENST00000296358.4	-	5	1357	c.1333G>C	c.(1333-1335)Gaa>Caa	p.E445Q		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	445					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAATGGATTCAAAGATGAAG	0.542000													10	62					0	0	0.006214	0	0
TRIP11	9321	broad.mit.edu	37	14	92461767	92461767	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr14:92461767G>A	ENST00000267622.4	-	14	5358	c.4985C>T	c.(4984-4986)tCt>tTt	p.S1662F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1662				QLSVSQEQ -> RFCLSGT (in Ref. 1; AAD09135).	transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTTCCTGAGAGACAGAAAG	0.458000			T	PDGFRB	AML								24	23					0	0	0.014323	0	0
DUS3L	56931	broad.mit.edu	37	19	5785684	5785684	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr19:5785684A>T	ENST00000309061.7	-	11	1777	c.1681T>A	c.(1681-1683)Tgg>Agg	p.W561R	DUS3L_ENST00000320699.8_Missense_Mutation_p.W319R	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	561					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCCGAGCCCCAGTGCTCCAGG	0.677000													6	18					0	0	0.001984	0	0
ROPN1B	152015	broad.mit.edu	37	3	125694519	125694519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:125694519C>G	ENST00000514116.1	+	4	545	c.230C>G	c.(229-231)tCt>tGt	p.S77C	ROPN1B_ENST00000251776.4_Missense_Mutation_p.S77C|ROPN1B_ENST00000511082.1_5'UTR|ROPN1B_ENST00000505382.1_5'UTR			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	77					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		ATCCTGCATTCTCAGGTAAGG	0.567000													18	42					0	0	0.006122	0	0
AP3B2	8120	broad.mit.edu	37	15	83335612	83335612	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:83335612C>T	ENST00000261722.3	-	15	1946	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	AP3B2_ENST00000535348.1_Missense_Mutation_p.R548H|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R580H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	580					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCGGGTGAAGCGCGCCCGGTC	0.597000													17	66					0	0	0.006122	0	0
ZNF622	90441	broad.mit.edu	37	5	16465329	16465329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr5:16465329G>A	ENST00000308683.2	-	1	572	c.446C>T	c.(445-447)cCa>cTa	p.P149L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	149						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGCAGGCGCTGGGGGCGCCTT	0.652000													65	92					0	0	0.014410	0	0
APBB1	322	broad.mit.edu	37	11	6431880	6431880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr11:6431880G>C	ENST00000389906.2	-	2	797	c.698C>G	c.(697-699)tCc>tGc	p.S233C	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.S233C|APBB1_ENST00000299402.6_Missense_Mutation_p.S233C	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	233					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGAGCCATAGGAGGGGCTGCC	0.592000													11	50					0	0	0.010729	0	0
ASPA	443	broad.mit.edu	37	17	3385074	3385074	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:3385074G>C	ENST00000263080.2	+	2	572	c.414G>C	c.(412-414)caG>caC	p.Q138H	ASPA_ENST00000456349.2_Missense_Mutation_p.Q138H|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	138					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTTTAATTCAGATGTTTCATT	0.318000													3	22					0	0	0.004672	0	0
GYG1	2992	broad.mit.edu	37	3	148712030	148712030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:148712030G>A	ENST00000345003.4	+	2	409	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	GYG1_ENST00000296048.6_Missense_Mutation_p.V37M|GYG1_ENST00000484197.1_Missense_Mutation_p.V37M|GYG1_ENST00000483267.1_Missense_Mutation_p.V37M	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	37					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAGGCTGGTCGTGCTCGCCAC	0.587000													18	65					0	0	0.012319	0	0
MYOCD	93649	broad.mit.edu	37	17	12642624	12642624	+	Silent	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:12642624A>T	ENST00000425538.1	+	7	896	c.696A>T	c.(694-696)atA>atT	p.I232I	MYOCD_ENST00000395988.1_Silent_p.I136I|MYOCD_ENST00000343344.4_Silent_p.I232I	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	232					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCACCCCCATAGCCGTGCATG	0.587000													32	39					0	0	0.012213	0	0
NEDD4	4734	broad.mit.edu	37	15	56207863	56207863	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:56207863G>A	ENST00000508342.1	-	1	1466	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	NEDD4_ENST00000506154.1_Silent_p.D389D|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.D389D			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	389					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGTTTCACAGTCTAATGTAG	0.363000													17	38					0	0	0.004007	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38810819	38810819	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr8:38810819G>T	ENST00000420274.1	+	9	941	c.707G>T	c.(706-708)cGa>cTa	p.R236L	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Intron	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	236	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	p.R236L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CACCAGGACCGAGAACCACTG	0.463000													87	224					2.16659e-41	2.49229e-41	0.014410	1	0
IGLL1	3543	broad.mit.edu	37	22	23915612	23915612	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr22:23915612C>G	ENST00000330377.2	-	3	600	c.483G>C	c.(481-483)gaG>gaC	p.E161D	IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	161	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GCGTGGTCATCTCCACGCCCT	0.582000													3	154					0	0	0.009096	0	0
GRIP1	23426	broad.mit.edu	37	12	66990676	66990676	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:66990676C>T	ENST00000359742.4	-	2	327	c.87G>A	c.(85-87)caG>caA	p.Q29Q	GRIP1_ENST00000398016.3_Silent_p.Q29Q|GRIP1_ENST00000286445.7_Silent_p.Q29Q			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	29					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGGCTTTGTCTGGCTGGCGG	0.448000													19	62					0	0	0.012319	0	0
DNAH10	196385	broad.mit.edu	37	12	124333280	124333280	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:124333280G>A	ENST00000409039.3	+	33	5624	c.5599G>A	c.(5599-5601)Gtg>Atg	p.V1867M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1867	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCTAGGCCGTGGGGAAGAT	0.443000													4	25					0	0	0.009096	0	0
CCDC33	80125	broad.mit.edu	37	15	74559050	74559050	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:74559050G>A	ENST00000321288.5	+	6	960	c.960G>A	c.(958-960)aaG>aaA	p.K320K	CCDC33_ENST00000398814.3_Silent_p.K117K			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	320	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACAACAGAAAGAAACAGGAGT	0.473000													29	107					0	0	0.008361	0	0
SETDB1	9869	broad.mit.edu	37	1	150900253	150900253	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:150900253G>A	ENST00000271640.5	+	2	253	c.63G>A	c.(61-63)gaG>gaA	p.E21E	SETDB1_ENST00000368962.2_Silent_p.E21E|SETDB1_ENST00000368969.4_Silent_p.E21E|SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368963.1_Silent_p.E21E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCTGAAGAGATTGCAGAGC	0.463000													17	92					0	0	0.004990	0	0
HLA-G	3135	broad.mit.edu	37	6	29796372	29796372	+	Silent	SNP	C	C	T	rs141841160		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:29796372C>T	ENST00000428701.1	+	4	574	c.396C>T	c.(394-396)cgC>cgT	p.R132R	HLA-G_ENST00000376828.2_Silent_p.R137R|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Silent_p.R132R	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	132	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCGACGGACGCCTCCTCCGCG	0.672000													23	83					0	0	0.003954	0	0
WAS	7454	broad.mit.edu	37	X	48542320	48542320	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chrX:48542320C>G	ENST00000376701.4	+	1	153	c.78C>G	c.(76-78)ctC>ctG	p.L26L	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	26					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCTCCACCCTCCTCCAGGACC	0.617000			"""Mis, N, F, S"""			lymphoma							16	50					0	0	0.007413	0	0
CD1D	912	broad.mit.edu	37	1	158152778	158152778	+	Missense_Mutation	SNP	C	C	T	rs139209490	by1000genomes	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr1:158152778C>T	ENST00000368171.3	+	5	1217	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	240	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAGTGGATGCGGGGTGAGCA	0.632000													5	142					0	0	0.000602	0	0
PFKP	5214	broad.mit.edu	37	10	3178029	3178029	+	Splice_Site	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr10:3178029G>C	ENST00000381075.2	+	23	2424	c.2201_splice	c.e23+1	p.E734_splice	PFKP_ENST00000381125.4_Splice_Site_p.E742_splice|PFKP_ENST00000381072.1_Splice_Site_p.E160_splice	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	742					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AACGGATTTTGAGTAAGTTGG	0.453000													6	23					0	0	0.001168	0	0
TCF21	6943	broad.mit.edu	37	6	134210544	134210544	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:134210544C>T	ENST00000367882.4	+	1	269	c.9C>T	c.(7-9)acC>acT	p.T3T	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.T3T	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	3					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.T3T(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		ACATGTCCACCGGCTCCCTCA	0.522000													14	91					0	0	0.006122	0	0
KCTD5	54442	broad.mit.edu	37	16	2757382	2757382	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr16:2757382G>C	ENST00000564195.1	+	5	676	c.667G>C	c.(667-669)Gaa>Caa	p.E223Q	KCTD5_ENST00000301738.4_3'UTR			Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	0					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAGATGTAATGAACTGCCATG	0.433000													9	25					0	0	0.006214	0	0
ACVR1C	130399	broad.mit.edu	37	2	158390507	158390507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:158390507C>T	ENST00000243349.7	-	9	1765	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	ACVR1C_ENST00000335450.7_Missense_Mutation_p.G389R|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G419R|ACVR1C_ENST00000348328.5_Missense_Mutation_p.G312R	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	469	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CGGGCCGCTCCGTTGGCATAC	0.388000													17	109					0	0	0.006122	0	0
MCM3AP	8888	broad.mit.edu	37	21	47697544	47697544	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr21:47697544G>A	ENST00000397708.1	-	6	2009	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	MCM3AP_ENST00000291688.1_Silent_p.L585L			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	585					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CACATGGCCCGAGGCCCTCGG	0.552000													12	111					0	0	0.002450	0	0
LIN9	286826	broad.mit.edu	37	1	226421074	226421074	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:226421074T>C	ENST00000328205.5	-	13	1989	c.1444A>G	c.(1444-1446)Agg>Ggg	p.R482G	LIN9_ENST00000366801.1_Missense_Mutation_p.R431G|LIN9_ENST00000481685.1_Missense_Mutation_p.R447G	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	466					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCTGTAAGCCTGGAAATTAAG	0.368000													3	146					0	0	0.009096	0	0
TAS2R20	259295	broad.mit.edu	37	12	11150362	11150362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:11150362C>T	ENST00000538986.1	-	1	112	c.113G>A	c.(112-114)aGa>aAa	p.R38K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	38					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GATCTTTTGTCTCTTGACCCA	0.378000													23	46					0	0	0.016522	0	0
SLC2A14	144195	broad.mit.edu	37	12	7980270	7980270	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:7980270G>A	ENST00000543909.1	-	12	1513	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	SLC2A14_ENST00000542546.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R229W|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R267W|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R252W|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R143W|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R229W			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	252					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCCCACAACCGCTGGAGGACT	0.507000													7	46					0	0	0.013537	0	0
LMTK2	22853	broad.mit.edu	37	7	97832936	97832936	+	Silent	SNP	G	G	A	rs146973469	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:97832936G>A	ENST00000297293.5	+	12	4451	c.4158G>A	c.(4156-4158)ccG>ccA	p.P1386P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1386					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGTGCGGCCCGGACCTGAGCG	0.597000													11	26					0	0	0.010729	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													7	63					0	0	0.010729	0	0
C17orf74	201243	broad.mit.edu	37	17	7330746	7330746	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:7330746C>T	ENST00000333870.3	+	3	1510	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	479						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGGTCCAGCTCACTGCCACCG	0.632000													13	32					0	0	0.013537	0	0
SLC12A4	6560	broad.mit.edu	37	16	67979293	67979293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:67979293C>G	ENST00000422611.2	-	21	3056	c.3017G>C	c.(3016-3018)cGg>cCg	p.R1006P	SLC12A4_ENST00000576616.1_Missense_Mutation_p.R1004P|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R973P|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R998P|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R1004P|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R956P	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1004					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCAGCTCCCGGAAATTGTC	0.572000													28	58					0	0	0.007291	0	0
DUS3L	56931	broad.mit.edu	37	19	5785684	5785684	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:5785684A>T	ENST00000309061.7	-	11	1777	c.1681T>A	c.(1681-1683)Tgg>Agg	p.W561R	DUS3L_ENST00000320699.8_Missense_Mutation_p.W319R	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	561					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCCGAGCCCCAGTGCTCCAGG	0.677000													6	18					0	0	0.001984	0	0
ZNF765	91661	broad.mit.edu	37	19	53912281	53912281	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:53912281G>A	ENST00000396408.3	+	4	1590	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ATACTGGACAGAAACCTTACA	0.378000													13	98					0	0	0.016723	0	0
TTN	7273	broad.mit.edu	37	2	179434801	179434801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:179434801C>G	ENST00000589042.1	-	326	76282	c.76058G>C	c.(76057-76059)aGa>aCa	p.R25353T	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23712T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22785T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16480T|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16413T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16288T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23712	Fibronectin type-III 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTATGGCATCTTGTCCATCT	0.423000													3	141					0	0	0.004672	0	0
CCDC93	54520	broad.mit.edu	37	2	118758500	118758500	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:118758500G>C	ENST00000376300.2	-	4	397	c.260C>G	c.(259-261)tCa>tGa	p.S87*	AC009303.1_ENST00000588042.1_RNA|AC009303.1_ENST00000590516.1_RNA|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.S87*	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	87										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AATTTTTTCTGACAGAGCTCT	0.463000													14	29					0	0	0.004990	0	0
OR9A4	130075	broad.mit.edu	37	7	141619579	141619579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:141619579C>T	ENST00000548136.1	+	1	963	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGAGGCCCTTCGGGATGGGGT	0.423000													21	70					0	0	0.014323	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234745081	234745081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:234745081C>A	ENST00000366609.3	-	1	190	c.160G>T	c.(160-162)Gag>Tag	p.E54*	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.E54*	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGCGCCGTCTCGATGACGAAC	0.746000													4	5					0.00116845	0.00123071	0.001168	1	0
CYP4F24P	388514	broad.mit.edu	37	19	15885127	15885127	+	RNA	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:15885127C>T	ENST00000587443.2	-	0	295					NR_033864.1																						ATGGAGAGATCATCCTTGGGC	0.577000													19	60					0	0	0.008871	0	0
CERS6	253782	broad.mit.edu	37	2	169417810	169417810	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:169417810C>G	ENST00000305747.6	+	3	972	c.385C>G	c.(385-387)Ctg>Gtg	p.L129V	CERS6_ENST00000392687.4_Missense_Mutation_p.L129V	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	129						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCCAAGCACGCTGACGAGGTT	0.448000													15	100					0	0	0.004007	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057080	120057080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:120057080C>T	ENST00000235547.6	+	4	1079	c.940C>T	c.(940-942)Cga>Tga	p.R314*	HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.R312*|HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.R312*	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	312					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TTACACCTATCGACCGCCCTT	0.473000													40	118					0	0	0.006230	0	0
FARP1	10160	broad.mit.edu	37	13	99092944	99092944	+	Missense_Mutation	SNP	G	G	A	rs145597966	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr13:99092944G>A	ENST00000376586.2	+	25	3079	c.2743G>A	c.(2743-2745)Gcg>Acg	p.A915T	FARP1_ENST00000595437.1_Missense_Mutation_p.A915T|FARP1_ENST00000319562.6_Missense_Mutation_p.A884T			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	884					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAAGCCACCGCGGCTGACCA	0.627000													7	64					0	0	0.001984	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97935815	97935815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:97935815G>A	ENST00000005260.8	-	11	1392	c.1177C>T	c.(1177-1179)Ccg>Tcg	p.P393S		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	393	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TACGACGACGGGAACCAACCC	0.572000													25	71					0	0	0.004656	0	0
BIRC6	57448	broad.mit.edu	37	2	32724766	32724766	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:32724766C>G	ENST00000421745.2	+	46	8755	c.8621C>G	c.(8620-8622)tCa>tGa	p.S2874*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2874					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCACTTGCTCAGACAAAGTA	0.433000													44	123					0	0	0.014410	0	0
ACBD6	84320	broad.mit.edu	37	1	180471273	180471273	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:180471273G>A	ENST00000367595.3	-	1	816	c.129C>T	c.(127-129)gcC>gcT	p.A43A		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	43	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CAAACAGCTCGGCCAGGCAAC	0.612000													9	33					0	0	0.004482	0	0
CFP	5199	broad.mit.edu	37	X	47486681	47486681	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:47486681A>G	ENST00000247153.3	-	6	866	c.625T>C	c.(625-627)Tgc>Cgc	p.C209R	CFP_ENST00000396992.3_Missense_Mutation_p.C209R|CFP_ENST00000377005.2_Missense_Mutation_p.C209R	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	209	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCACCGTGGCAGGAGGCTGAG	0.667000													3	14					0	0	0.009096	0	0
ECE2	9718	broad.mit.edu	37	3	183994461	183994461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:183994461C>T	ENST00000357474.5	+	2	351	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	ECE2_ENST00000359140.4_Intron|ECE2_ENST00000404464.3_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron			O60344	ECE2_HUMAN	endothelin converting enzyme 2	152	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCCACCTCCGCTCCATCTC	0.617000													3	5					0	0	0.009096	0	0
COG5	10466	broad.mit.edu	37	7	107204296	107204296	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:107204296G>C	ENST00000393603.2	-	1	410	c.139C>G	c.(139-141)Cga>Gga	p.R47G	COG5_ENST00000297135.3_Missense_Mutation_p.R47G|DUS4L_ENST00000498786.1_Intron|COG5_ENST00000347053.3_Missense_Mutation_p.R47G	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	47					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCAGAGCCTCGAGCTCCGAGG	0.667000													28	50					0	0	0.010818	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													3	48					0	0	0.004672	0	0
MYH3	4621	broad.mit.edu	37	17	10547749	10547749	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:10547749G>A	ENST00000583535.1	-	14	1416	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	MYH3_ENST00000226209.7_Silent_p.R443R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	443	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTGGTTAATGCGAGTGACCA	0.398000													22	68					0	0	0.012319	0	0
COCH	1690	broad.mit.edu	37	14	31348691	31348691	+	Splice_Site	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:31348691G>C	ENST00000460581.2	+	4	646	c.100_splice	c.e4+1	p.G34_splice	COCH_ENST00000216361.4_Splice_Site_p.G146_splice|COCH_ENST00000396618.3_Splice_Site_p.G146_splice|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Splice_Site_p.G146_splice			O43405	COCH_HUMAN	cochlin	146	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCCACCAACAGGTATGAACTA	0.383000													9	58					0	0	0.008291	0	0
MAP2K1	5604	broad.mit.edu	37	15	66782908	66782908	+	Silent	SNP	C	C	T	rs150841154	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:66782908C>T	ENST00000307102.5	+	11	1668	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	SNAPC5_ENST00000395589.2_3'UTR|CTD-3185P2.1_ENST00000565387.1_RNA|SNAPC5_ENST00000563480.2_3'UTR|MAP2K1_ENST00000566326.1_Silent_p.I203I	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	379					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GCTCCACCATCGGCCTTAACC	0.532000													40	82					0	0	0.007835	0	0
RBM34	23029	broad.mit.edu	37	1	235295270	235295270	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:235295270C>G	ENST00000408888.3	-	11	1281	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	RBM34_ENST00000366606.3_Missense_Mutation_p.E346Q|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	351	RRM 2.					nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CCCATGAGTTCAGAATTATTT	0.318000													12	43					0	0	0.016723	0	0
LAMA4	3910	broad.mit.edu	37	6	112465999	112465999	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:112465999G>C	ENST00000230538.7	-	19	2887	c.2490C>G	c.(2488-2490)agC>agG	p.S830R	LAMA4_ENST00000389463.4_Missense_Mutation_p.S823R|LAMA4_ENST00000522006.1_Missense_Mutation_p.S823R|LAMA4_ENST00000424408.2_Missense_Mutation_p.S823R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	830	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTACCTTGCTGGCAACAC	0.512000													21	82					0	0	0.012319	0	0
ASPA	443	broad.mit.edu	37	17	3385074	3385074	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:3385074G>C	ENST00000263080.2	+	2	572	c.414G>C	c.(412-414)caG>caC	p.Q138H	ASPA_ENST00000456349.2_Missense_Mutation_p.Q138H|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	138					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTTTAATTCAGATGTTTCATT	0.318000													3	22					0	0	0.004672	0	0
DNAH3	55567	broad.mit.edu	37	16	20981224	20981224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:20981224G>A	ENST00000261383.3	-	52	8347	c.8348C>T	c.(8347-8349)tCg>tTg	p.S2783L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2783	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCACCAGCGAGATGTCGGC	0.592000													35	86					0	0	0.015359	0	0
PRR5L	79899	broad.mit.edu	37	11	36472865	36472865	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:36472865C>G	ENST00000378867.3	+	9	1047	c.692C>G	c.(691-693)tCa>tGa	p.S231*	PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.S231*|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.S158*	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	231										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CGTAGCTTCTCAGGCCCCACG	0.537000													13	37					0	0	0.016723	0	0
USP8	9101	broad.mit.edu	37	15	50791262	50791262	+	Nonsense_Mutation	SNP	C	C	T	rs142928952		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:50791262C>T	ENST00000433963.1	+	21	3834	c.3334C>T	c.(3334-3336)Cga>Tga	p.R1112*	USP8_ENST00000425032.3_Nonsense_Mutation_p.R1006*|USP8_ENST00000396444.3_Nonsense_Mutation_p.R1112*|USP8_ENST00000307179.4_Nonsense_Mutation_p.R1112*	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1112					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTGGGACCACGAGTAACTGA	0.368000													12	33					0	0	0.010729	0	0
PUS7	54517	broad.mit.edu	37	7	105098338	105098338	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:105098338G>C	ENST00000356362.2	-	16	2099	c.1885C>G	c.(1885-1887)Cta>Gta	p.L629V	PUS7_ENST00000469408.1_Missense_Mutation_p.L629V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	629					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GAAGGGGGTAGAGAAAAATCC	0.473000													32	88					0	0	0.010818	0	0
XRCC6	2547	broad.mit.edu	37	22	42033722	42033722	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:42033722G>C	ENST00000359308.4	+	5	1355	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	XRCC6_ENST00000428575.2_Missense_Mutation_p.E101Q|XRCC6_ENST00000360079.3_Missense_Mutation_p.E234Q|XRCC6_ENST00000402580.3_Missense_Mutation_p.E193Q|XRCC6_ENST00000405878.1_Missense_Mutation_p.E234Q|XRCC6_ENST00000405506.1_Missense_Mutation_p.E184Q			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	234					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTCACTTTGAGGAATCCAG	0.537000								Non-homologous end-joining					3	18					0	0	0.004672	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394516	233394516	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:233394516G>A	ENST00000258229.8	-	5	1326	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	364						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGGGTCTCCGGGTTGAGAAG	0.517000													29	119					0	0	0.005443	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055505	72055505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:72055505G>C	ENST00000555818.1	+	2	1264	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E306Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E306Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	306					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAAAGGTGAAGAACTTGGGAA	0.433000													13	47					0	0	0.013537	0	0
FRAS1	80144	broad.mit.edu	37	4	79403007	79403007	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:79403007C>T	ENST00000264895.6	+	57	8933	c.8493C>T	c.(8491-8493)ttC>ttT	p.F2831F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2826	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTCTACTTTCGCATCTGTCT	0.493000													63	180					0	0	0.014410	0	0
UNC13B	10497	broad.mit.edu	37	9	35403456	35403456	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:35403456C>T	ENST00000378495.3	+	38	4572	c.4350C>T	c.(4348-4350)ctC>ctT	p.L1450L	UNC13B_ENST00000396787.1_Silent_p.L1481L|UNC13B_ENST00000378496.4_Silent_p.L1469L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1450	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAATGACCTCAAGTGGCAGA	0.532000													27	47					0	0	0.008361	0	0
NCAPD3	23310	broad.mit.edu	37	11	134072795	134072795	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:134072795A>G	ENST00000534548.2	-	13	1595	c.1531T>C	c.(1531-1533)Tcc>Ccc	p.S511P		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	511					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTTTGGTAGGAAAAAGCTTTA	0.348000													16	16					0	0	0.004007	0	0
ZNF711	7552	broad.mit.edu	37	X	84525039	84525039	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:84525039G>C	ENST00000360700.4	+	9	2019	c.1133G>C	c.(1132-1134)aGa>aCa	p.R378T	ZNF711_ENST00000373165.3_Missense_Mutation_p.R332T|ZNF711_ENST00000276123.3_Missense_Mutation_p.R332T|ZNF711_ENST00000395402.1_Missense_Mutation_p.R340T|ZNF711_ENST00000542798.1_Missense_Mutation_p.R174T			Q9Y462	ZN711_HUMAN	zinc finger protein 711	332					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTAGAAAGCAGAAGTAGTACA	0.333000													8	30					0	0	0.004482	0	0
SLC31A1	1317	broad.mit.edu	37	9	116028637	116028637	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:116028637A>G	ENST00000374210.6	+	6	716	c.530A>G	c.(529-531)gAg>gGg	p.E177G	CDC26_ENST00000490408.1_Intron			O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	60						integral to plasma membrane	copper ion transmembrane transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						ATGATTCAAGAGGCTCTTATG	0.473000													4	5					0	0	0.009096	0	0
TMCC3	57458	broad.mit.edu	37	12	94975422	94975422	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:94975422T>A	ENST00000261226.4	-	2	1102	c.971A>T	c.(970-972)cAg>cTg	p.Q324L	TMCC3_ENST00000551457.1_Missense_Mutation_p.Q293L	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	324						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTGCAGGGTCTGAGAAATAAA	0.353000													15	50					0	0	0.003163	0	0
ZNF79	7633	broad.mit.edu	37	9	130206706	130206706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:130206706C>T	ENST00000342483.5	+	5	1133	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	ZNF79_ENST00000543471.1_Missense_Mutation_p.H219Y	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCAGAGGATTCACACTGGAGA	0.537000													15	59					0	0	0.002450	0	0
KCNH8	131096	broad.mit.edu	37	3	19295208	19295208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:19295208G>A	ENST00000328405.2	+	2	405	c.139G>A	c.(139-141)Gat>Aat	p.D47N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	47	PAS.					integral to membrane	two-component sensor activity			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						CTACTGTTCCGATGGCTTCTG	0.453000													12	103					0	0	0.010729	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79067056	79067056	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:79067056G>A	ENST00000388820.4	-	12	1996	c.1786C>T	c.(1786-1788)Cgc>Tgc	p.R596C	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	596	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AAGGAGGGGCGGCCAGCAGGG	0.632000													10	39					0	0	0.006214	0	0
TANC1	85461	broad.mit.edu	37	2	160086120	160086120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:160086120G>A	ENST00000263635.6	+	27	4420	c.4183G>A	c.(4183-4185)Gag>Aag	p.E1395K	TANC1_ENST00000454300.1_Missense_Mutation_p.E1289K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1395						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGACCTGCAAGAGGCTGTGAA	0.473000													9	40					0	0	0.004482	0	0
RADIL	55698	broad.mit.edu	37	7	4856042	4856042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:4856042G>A	ENST00000399583.3	-	8	1970	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	RADIL_ENST00000538469.1_Missense_Mutation_p.R355C|RADIL_ENST00000536091.1_Missense_Mutation_p.A541V	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	595	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTCTCACGGCGCTCCGTCTGG	0.677000													4	15					0	0	0.009096	0	0
PCLO	27445	broad.mit.edu	37	7	82579179	82579179	+	Silent	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:82579179T>A	ENST00000423517.2	-	6	11062	c.10725A>T	c.(10723-10725)acA>acT	p.T3575T	PCLO_ENST00000437081.1_Silent_p.T295T|PCLO_ENST00000333891.8_Silent_p.T3575T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3506					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGACTTTGTGTGTCTGAAT	0.438000													18	48					0	0	0.008871	0	0
SYNE1	23345	broad.mit.edu	37	6	152763311	152763311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:152763311C>T	ENST00000367255.5	-	31	4508	c.3907G>A	c.(3907-3909)Gaa>Aaa	p.E1303K	SYNE1_ENST00000413186.2_Missense_Mutation_p.E1303K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1303K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1369K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1293K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1310K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1303K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1303					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCCCCCCTTCTCCCTGCTGC	0.582000										HNSCC(10;0.0054)			18	60					0	0	0.008871	0	0
ZNF622	90441	broad.mit.edu	37	5	16465329	16465329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:16465329G>A	ENST00000308683.2	-	1	572	c.446C>T	c.(445-447)cCa>cTa	p.P149L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	149						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGCAGGCGCTGGGGGCGCCTT	0.652000													65	92					0	0	0.014410	0	0
ZNF28	7576	broad.mit.edu	37	19	53303120	53303120	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:53303120C>G	ENST00000438150.2	-	2	2712	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q	ZNF28_ENST00000414252.2_Missense_Mutation_p.E607Q|ZNF28_ENST00000457749.2_Missense_Mutation_p.E660Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.E607Q			P17035	ZNF28_HUMAN	zinc finger protein 28	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TAAGGTTTCTCTCCACTATGA	0.423000													26	231					0	0	0.018920	0	0
UNC5D	137970	broad.mit.edu	37	8	35583721	35583721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:35583721G>A	ENST00000287272.2	+	9	1168	c.1148G>A	c.(1147-1149)cGg>cAg	p.R383Q	UNC5D_ENST00000416672.1_Missense_Mutation_p.R457Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.R452Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.R447Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R385Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R28Q			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	452					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGTGAGCCGGACATACAGC	0.488000													59	62					0	0	0.014410	0	0
PLCE1	51196	broad.mit.edu	37	10	95791019	95791019	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:95791019T>C	ENST00000260766.3	+	2	850	c.216T>C	c.(214-216)atT>atC	p.I72I	PLCE1_ENST00000371380.2_Silent_p.I72I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	72					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCCAAAGATTCTCTCAATAG	0.393000													14	29					0	0	0.004007	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476460	140476460	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:140476460T>C	ENST00000194155.4	+	1	2234	c.2086T>C	c.(2086-2088)Ttg>Ctg	p.L696L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		696					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCGTTGGCCTCGGT	0.697000													52	166					0	0	0.014410	0	0
TMEM99	147184	broad.mit.edu	37	17	38991082	38991082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:38991082C>T	ENST00000301665.3	+	3	618	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	105						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTGTTGGCTCGTGGTTGCTC	0.468000													62	129					0	0	0.014410	0	0
SHPRH	257218	broad.mit.edu	37	6	146245960	146245960	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:146245960T>A	ENST00000367503.3	-	17	3742	c.3344A>T	c.(3343-3345)tAc>tTc	p.Y1115F	SHPRH_ENST00000367505.2_Missense_Mutation_p.Y1106F|SHPRH_ENST00000275233.7_Missense_Mutation_p.Y1106F|SHPRH_ENST00000438092.2_Missense_Mutation_p.Y1115F	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1106					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTGCTCATGTAGTGCTCTCG	0.408000													23	59					0	0	0.014323	0	0
DFNB31	25861	broad.mit.edu	37	9	117266938	117266938	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:117266938C>T	ENST00000362057.3	-	1	312	c.144G>A	c.(142-144)gcG>gcA	p.A48A	DFNB31_ENST00000374057.3_Silent_p.A48A	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	48					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCTCAGCAGCGCGGTCAGCG	0.746000													8	33					0	0	0.003080	0	0
PLXNA1	5361	broad.mit.edu	37	3	126733043	126733043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:126733043C>T	ENST00000251772.4	+	11	2429	c.2360C>T	c.(2359-2361)cCg>cTg	p.P787L	PLXNA1_ENST00000393409.2_Missense_Mutation_p.P810L			Q9UIW2	PLXA1_HUMAN	plexin A1	810					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TACAAGTGCCCGGCCCTGCGC	0.736000													6	25					0	0	0.001168	0	0
FBXW7	55294	broad.mit.edu	37	4	153332853	153332853	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:153332853G>A	ENST00000281708.4	-	2	1332	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	FBXW7_ENST00000604872.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R35C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R35C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	35					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTACCACACGATTCATCTGT	0.507000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								47	90					0	0	0.013114	0	0
FREM1	158326	broad.mit.edu	37	9	14848678	14848678	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:14848678C>A	ENST00000380881.4	-	8	2064	c.1249G>T	c.(1249-1251)Gta>Tta	p.V417L	FREM1_ENST00000380880.3_Missense_Mutation_p.V416L|FREM1_ENST00000422223.2_Missense_Mutation_p.V416L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	416					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCCAGGATACACGGGGGGCA	0.423000													19	42					1.28384e-07	1.3826e-07	0.012319	1	0
BFSP1	631	broad.mit.edu	37	20	17475534	17475534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:17475534C>G	ENST00000377873.3	-	8	1222	c.1183G>C	c.(1183-1185)Gaa>Caa	p.E395Q	BFSP1_ENST00000544874.1_Missense_Mutation_p.E256Q|BFSP1_ENST00000377868.2_Missense_Mutation_p.E270Q|BFSP1_ENST00000536626.1_Missense_Mutation_p.E256Q	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	395	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTGTGTCTTCCAAACCTTTT	0.413000													48	74					0	0	0.014410	0	0
NEDD4	4734	broad.mit.edu	37	15	56207863	56207863	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:56207863G>A	ENST00000508342.1	-	1	1466	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.D389D|NEDD4_ENST00000506154.1_Silent_p.D389D			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	389					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGTTTCACAGTCTAATGTAG	0.363000													17	38					0	0	0.004007	0	0
SPTBN2	6712	broad.mit.edu	37	11	66488701	66488701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:66488701G>A	ENST00000533211.1	-	3	342	c.11C>T	c.(10-12)aCg>aTg	p.T4M	SPTBN2_ENST00000529997.1_Missense_Mutation_p.T4M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T4M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	4	Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGGTGACAGCGTGCTGCTCAT	0.602000													20	125					0	0	0.010504	0	0
SLC2A3	6515	broad.mit.edu	37	12	8082459	8082459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:8082459G>A	ENST00000075120.7	-	6	922	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	228					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CCCCACAACCGCTGGAGGACT	0.498000													12	89					0	0	0.006122	0	0
PYGM	5837	broad.mit.edu	37	11	64525340	64525340	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:64525340C>G	ENST00000164139.3	-	5	969	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	PYGM_ENST00000377432.3_Missense_Mutation_p.E103Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	191					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CGGGCCTTCTCCCAGGGGTTG	0.607000													18	25					0	0	0.010504	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482313	140482313	+	Silent	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:140482313T>C	ENST00000231130.2	+	1	2080	c.2080T>C	c.(2080-2082)Ttg>Ctg	p.L694L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		694					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGTGGCATTGGCCTCGGT	0.687000													10	67					0	0	0.010504	0	0
STXBP2	6813	broad.mit.edu	37	19	7708073	7708073	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:7708073C>G	ENST00000441779.2	+	13	1119	c.1082C>G	c.(1081-1083)gCa>gGa	p.A361G	STXBP2_ENST00000221283.5_Missense_Mutation_p.A350G|STXBP2_ENST00000414284.2_Missense_Mutation_p.A347G	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	350					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCATCTAGCAGATGATTGT	0.587000													9	37					0	0	0.006214	0	0
CNTN2	6900	broad.mit.edu	37	1	205039107	205039107	+	Silent	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:205039107C>A	ENST00000331830.4	+	18	2633	c.2349C>A	c.(2347-2349)ccC>ccA	p.P783P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	783	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCTACACGCCCTTTGAGGTCA	0.667000													21	82					1.50039e-11	1.63149e-11	0.012319	1	0
ZNF615	284370	broad.mit.edu	37	19	52497522	52497522	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:52497522G>A	ENST00000602063.1	-	6	1156	c.807C>T	c.(805-807)ttC>ttT	p.F269F	ZNF615_ENST00000598071.1_Silent_p.F280F|ZNF615_ENST00000594083.1_Silent_p.F280F|ZNF615_ENST00000391795.3_Silent_p.F274F|ZNF615_ENST00000376716.5_Silent_p.F269F			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ATTTCTTGAGGAAGGTTTTGT	0.413000													24	220					0	0	0.014323	0	0
SPIB	6689	broad.mit.edu	37	19	50925756	50925756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:50925756G>A	ENST00000439922.2	+	3	100	c.20G>A	c.(19-21)tGg>tAg	p.W7*	SPIB_ENST00000596074.1_Silent_p.L26L|SPIB_ENST00000595883.1_Silent_p.L26L|SPIB_ENST00000270632.7_Silent_p.L26L|SPIB_ENST00000597855.1_Silent_p.L26L	NM_001243998.1	NP_001230927.1	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	0	TAD1 (Acidic).				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCTATGACCTGGACAGCTGCA	0.612000													16	21					0	0	0.006122	0	0
IQCG	84223	broad.mit.edu	37	3	197670906	197670906	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:197670906A>G	ENST00000265239.6	-	4	449	c.25T>C	c.(25-27)Tca>Cca	p.S9P	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.S9P|IQCG_ENST00000453254.1_Missense_Mutation_p.S9P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	9										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GGAAGGTTTGAGTCTTCCAGG	0.408000													3	161					0	0	0.004672	0	0
AGPAT1	10554	broad.mit.edu	37	6	32137994	32137994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:32137994C>G	ENST00000395499.1	-	5	1133	c.554G>C	c.(553-555)gGc>gCc	p.G185A	AGPAT1_ENST00000395496.1_Missense_Mutation_p.G185A|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G185A|AGPAT1_ENST00000412465.2_Missense_Mutation_p.G73A|PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000375104.2_Missense_Mutation_p.G185A|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G185A|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G185A			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	185					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CAGCATGGAGCCATTGTGGTT	0.537000													7	12					0	0	0.001984	0	0
YME1L1	10730	broad.mit.edu	37	10	27423860	27423860	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:27423860G>A	ENST00000326799.3	-	7	910	c.762C>T	c.(760-762)ctC>ctT	p.L254L	YME1L1_ENST00000375972.3_Silent_p.L164L|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Silent_p.L197L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	254					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGTTTTCATGAGTTTGTCCA	0.393000													14	37					0	0	0.016723	0	0
KDM7A	80853	broad.mit.edu	37	7	139796488	139796488	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:139796488G>A	ENST00000397560.2	-	17	2338	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	JHDM1D_ENST00000006967.5_Silent_p.S747S	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		747					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTAAACACGTGGAATAGTGCA	0.483000													23	64					0	0	0.018920	0	0
PARP14	54625	broad.mit.edu	37	3	122420364	122420364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:122420364C>T	ENST00000474629.2	+	6	3229	c.2963C>T	c.(2962-2964)cCg>cTg	p.P988L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	988					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACAGCTGCCCCGCCAGGTTTA	0.522000													4	17					0	0	0.014758	0	0
CMTR1	23070	broad.mit.edu	37	6	37411845	37411845	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:37411845C>T	ENST00000373451.4	+	3	368	c.204C>T	c.(202-204)gaC>gaT	p.D68D		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		68					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ACTCTTTTGACGATGCATTCA	0.433000													40	52					0	0	0.007835	0	0
OR10R2	343406	broad.mit.edu	37	1	158450344	158450344	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:158450344T>C	ENST00000368152.1	+	1	677	c.677T>C	c.(676-678)gTa>gCa	p.V226A	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGAGTTCTTGTACTTGTGGTT	0.413000													26	87					0	0	0.008361	0	0
SUN5	140732	broad.mit.edu	37	20	31590695	31590695	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:31590695C>T	ENST00000356173.3	-	2	200	c.108G>A	c.(106-108)agG>agA	p.R36R	SUN5_ENST00000375523.3_Silent_p.R36R|SUN5_ENST00000375519.2_Silent_p.R36R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	36					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCTCTGCCATCCTGCTGGTGT	0.527000													19	49					0	0	0.010504	0	0
SENP1	29843	broad.mit.edu	37	12	48477537	48477537	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:48477537G>C	ENST00000004980.5	-	6	867	c.389C>G	c.(388-390)tCa>tGa	p.S130*	SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Nonsense_Mutation_p.S130*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.S130*			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	130	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAAACTGTTTGATAATCCACT	0.313000													10	37					0	0	0.010729	0	0
CD19	930	broad.mit.edu	37	16	28948971	28948971	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:28948971G>A	ENST00000538922.1	+	11	1461	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CD19_ENST00000324662.3_Missense_Mutation_p.E467K|CD19_ENST00000567541.1_Missense_Mutation_p.E467K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	467					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CGAGGATGAAGAGCTGACCCA	0.567000													19	35					0	0	0.006122	0	0
NIPBL	25836	broad.mit.edu	37	5	37048678	37048678	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:37048678G>C	ENST00000282516.8	+	39	7163	c.6664G>C	c.(6664-6666)Gat>Cat	p.D2222H	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2222H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2222					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TATTTTATCTGATAAGAACTC	0.363000													13	37					0	0	0.016723	0	0
KCTD13	253980	broad.mit.edu	37	16	29918300	29918300	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:29918300C>T	ENST00000568000.1	-	6	1884	c.883G>A	c.(883-885)Ggg>Agg	p.G295R		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	295					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						TCATCCTCCCCGCGGCCAGCC	0.637000													33	80					0	0	0.015359	0	0
ASTE1	28990	broad.mit.edu	37	3	130744130	130744130	+	Missense_Mutation	SNP	C	C	G	rs139512239		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:130744130C>G	ENST00000264992.3	-	3	462	c.21G>C	c.(19-21)atG>atC	p.M7I	ASTE1_ENST00000514044.1_Missense_Mutation_p.M7I	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	7					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CCACAAAACTCATTAGTCCTC	0.378000													22	57					0	0	0.018920	0	0
DGKQ	1609	broad.mit.edu	37	4	959304	959304	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:959304G>A	ENST00000273814.3	-	14	1666	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	531					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTGACTCACGGACACCACGG	0.667000													5	18					0	0	0.014758	0	0
CACNA1D	776	broad.mit.edu	37	3	53757958	53757958	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:53757958T>A	ENST00000288139.3	+	15	2210	c.2092T>A	c.(2092-2094)Ttt>Att	p.F698I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.F678I|CACNA1D_ENST00000350061.5_Missense_Mutation_p.F678I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	678					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAAGTTTAATTTTGATGAAAC	0.463000													15	39					0	0	0.002450	0	0
KIF1B	23095	broad.mit.edu	37	1	10384836	10384836	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:10384836G>A	ENST00000377086.1	+	26	2760	c.2558G>A	c.(2557-2559)cGa>cAa	p.R853Q	KIF1B_ENST00000263934.6_Missense_Mutation_p.R807Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.R853Q			O60333	KIF1B_HUMAN	kinesin family member 1B	853					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATTTGATGCGAGAGATGTAT	0.463000													20	53					0	0	0.012319	0	0
EP300	2033	broad.mit.edu	37	22	41573028	41573028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:41573028C>A	ENST00000263253.7	+	31	6532	c.5313C>A	c.(5311-5313)tgC>tgA	p.C1771*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1771	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAGGGTTGCAAACGGAAAA	0.567000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				9	38					3.86212e-05	4.10656e-05	0.008291	1	0
CASP8	841	broad.mit.edu	37	2	202149644	202149644	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:202149644A>T	ENST00000358485.4	+	8	1281	c.1085A>T	c.(1084-1086)gAc>gTc	p.D362V	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.D288V|CASP8_ENST00000432109.2_Missense_Mutation_p.D303V|CASP8_ENST00000264274.9_Missense_Mutation_p.D219V|CASP8_ENST00000264275.5_Missense_Mutation_p.D320V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	303					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAACTCATGGACCACAGTAAC	0.473000										HNSCC(4;0.00038)			81	83					0	0	0.014410	0	0
FAM46B	115572	broad.mit.edu	37	1	27332876	27332876	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:27332876G>A	ENST00000289166.5	-	2	1002	c.837C>T	c.(835-837)ctC>ctT	p.L279L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	279										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGTACTTGAGGAGGCCACCAC	0.677000													9	18					0	0	0.008291	0	0
CYP2W1	54905	broad.mit.edu	37	7	1026752	1026752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:1026752C>T	ENST00000340150.6	+	6	683	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	CYP2W1_ENST00000308919.7_Missense_Mutation_p.P277S			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	277					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGGATGACCCCGAGGGCCT	0.692000													5	7					0	0	0.001168	0	0
ZNF630	57232	broad.mit.edu	37	X	47918145	47918145	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:47918145C>G	ENST00000276054.4	-	5	2248	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Missense_Mutation_p.Q562H|ZNF630_ENST00000442455.3_Missense_Mutation_p.Q548H			Q2M218	ZN630_HUMAN	zinc finger protein 630	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TATGACCTCTCTGATGTAGAA	0.448000													10	11					0	0	0.008291	0	0
F13B	2165	broad.mit.edu	37	1	197024886	197024886	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:197024886C>T	ENST00000367412.1	-	8	1356	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	438	Sushi 7.				blood coagulation	extracellular region		p.R438H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTGTTCGCAACGAGATATTTT	0.413000													11	53					0	0	0.003163	0	0
DNAH2	146754	broad.mit.edu	37	17	7696466	7696466	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:7696466C>T	ENST00000572933.1	+	48	8972	c.7512C>T	c.(7510-7512)ctC>ctT	p.L2504L	DNAH2_ENST00000389173.2_Silent_p.L2504L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2504	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCCGCCTCTGGATTGACT	0.517000													22	84					0	0	0.014323	0	0
TPSD1	23430	broad.mit.edu	37	16	1306640	1306640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:1306640C>T	ENST00000211076.3	+	2	354	c.206C>T	c.(205-207)tCc>tTc	p.S69F	TPSD1_ENST00000397534.2_Missense_Mutation_p.S62F	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCGGGGGCTCCCTCATCCAC	0.687000													22	57					0	0	0.016522	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43625502	43625502	+	RNA	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:43625502C>G	ENST00000586348.1	+	0	45																											GGTTTAACCTCTGTAGTAGGT	0.507000													61	148					0	0	0.014410	0	0
ALOXE3	59344	broad.mit.edu	37	17	8021162	8021162	+	Splice_Site	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:8021162C>T	ENST00000380149.1	-	1	645	c.615_splice	c.e1+1	p.S205_splice	ALOXE3_ENST00000448843.2_Splice_Site_p.S49_splice|ALOXE3_ENST00000318227.3_Splice_Site_p.S181_splice			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	49	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TTGTACTCACCGATCCAGGGG	0.612000													4	24					0	0	0.014758	0	0
C17orf74	201243	broad.mit.edu	37	17	7329885	7329885	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:7329885C>T	ENST00000333870.3	+	3	649	c.575C>T	c.(574-576)cCc>cTc	p.P192L	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.A79A	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	192						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GACAACCTGCCCTTCCCGTAT	0.597000													33	157					0	0	0.013726	0	0
TTN	7273	broad.mit.edu	37	2	179616442	179616442	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:179616442G>A	ENST00000360870.5	-	46	10907	c.10685C>T	c.(10684-10686)tCt>tTt	p.S3562F	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3558	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGCTGGAAGAGTGATGGTG	0.423000													41	101					0	0	0.007835	0	0
FAT1	2195	broad.mit.edu	37	4	187539252	187539252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:187539252G>A	ENST00000441802.2	-	10	8697	c.8488C>T	c.(8488-8490)Cag>Tag	p.Q2830*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2830	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCCTGATCTGAATTACTCTA	0.438000										HNSCC(5;0.00058)			35	72					0	0	0.019004	0	0
TRMU	55687	broad.mit.edu	37	22	46752850	46752850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:46752850G>A	ENST00000290846.4	+	11	1553	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	TRMU_ENST00000381019.3_Silent_p.*377*	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	405						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GATGGCCACTGAGAGCCCCAG	0.632000													15	39					0	0	0.003163	0	0
EYS	346007	broad.mit.edu	37	6	66204916	66204916	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:66204916G>T	ENST00000503581.1	-	4	925	c.388C>A	c.(388-390)Cta>Ata	p.L130I	EYS_ENST00000342421.5_Missense_Mutation_p.L130I|EYS_ENST00000393380.2_Missense_Mutation_p.L130I|EYS_ENST00000370616.2_Missense_Mutation_p.L130I|EYS_ENST00000370618.3_Missense_Mutation_p.L130I|EYS_ENST00000370621.3_Missense_Mutation_p.L130I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	130					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCCTTTTAGTCTGCAGCCA	0.393000													11	23					6.40141e-05	6.78509e-05	0.010729	1	0
RALGDS	5900	broad.mit.edu	37	9	135984211	135984211	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:135984211C>T	ENST00000393160.3	-	5	815	c.462G>A	c.(460-462)tcG>tcA	p.S154S	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Silent_p.S180S|RALGDS_ENST00000372047.3_Silent_p.S197S|RALGDS_ENST00000393157.3_Silent_p.S208S|RALGDS_ENST00000372050.3_Silent_p.S209S|RALGDS_ENST00000542690.1_Silent_p.S280S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	209	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGAAATCCTCCGAGTACTGGT	0.647000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								5	33					0	0	0.014758	0	0
NUTM1	256646	broad.mit.edu	37	15	34649168	34649168	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:34649168G>T	ENST00000537011.1	+	8	3341	c.2959G>T	c.(2959-2961)Ggg>Tgg	p.G987W	NUTM1_ENST00000333756.4_Missense_Mutation_p.G959W|NUTM1_ENST00000438749.3_Missense_Mutation_p.G977W					NUT midline carcinoma, family member 1																		TTACACAACTGGGACTCCCAA	0.483000													15	26					4.93089e-13	5.39668e-13	0.002450	1	0
CEP350	9857	broad.mit.edu	37	1	179989427	179989427	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:179989427G>C	ENST00000367607.3	+	12	2936	c.2518G>C	c.(2518-2520)Gaa>Caa	p.E840Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	840						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGCAGAATTGAAAGTGAAGC	0.448000													57	169					0	0	0.014410	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66766353	66766353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:66766353G>C	ENST00000258198.2	-	7	1024	c.818C>G	c.(817-819)tCa>tGa	p.S273*	DYNC1LI2_ENST00000440564.2_Nonsense_Mutation_p.S234*|DYNC1LI2_ENST00000443351.2_Nonsense_Mutation_p.S196*|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	273					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTCTTTCACTGATGTGTAAAT	0.378000													11	17					0	0	0.010729	0	0
TRIM26	7726	broad.mit.edu	37	6	30154334	30154334	+	Splice_Site	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:30154334C>T	ENST00000454678.2	-	10	1375	c.937_splice	c.e10-1	p.V313_splice	TRIM26_ENST00000453195.1_Splice_Site_p.V313_splice|TRIM26_ENST00000437089.1_Splice_Site_p.V313_splice	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	313	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GGGTGACGCTCACTGTGGGGA	0.468000													15	41					0	0	0.003163	0	0
NKAIN4	128414	broad.mit.edu	37	20	61873937	61873937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:61873937G>A	ENST00000370316.3	-	6	660	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	NKAIN4_ENST00000370307.2_Missense_Mutation_p.H129Y|NKAIN4_ENST00000370313.1_Intron|NKAIN4_ENST00000466885.1_5'UTR	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	191						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TCATTGACATGGTAGAGAGGA	0.453000													65	198					0	0	0.014410	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995473	140995473	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:140995473G>A	ENST00000285879.4	+	4	2569	c.2283G>A	c.(2281-2283)gaG>gaA	p.E761E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	761							protein binding			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)					GTTTCCCTGAGAGTCCTCAGA	0.542000										HNSCC(15;0.026)			82	238					0	0	0.014410	0	0
LOC440040	440040	broad.mit.edu	37	11	49831788	49831788	+	RNA	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:49831788C>T	ENST00000527477.1	+	0	2013																											CTGTATTCATCTCTGACCAGA	0.433000													17	202					0	0	0.007413	0	0
OBSCN	84033	broad.mit.edu	37	1	228459794	228459794	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:228459794C>T	ENST00000570156.2	+	20	5932	c.5858C>T	c.(5857-5859)tCg>tTg	p.S1953L	OBSCN_ENST00000284548.11_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.S425L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	934	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCCAGCTCGAAAATGCGT	0.667000													13	72					0	0	0.016723	0	0
MYLK3	91807	broad.mit.edu	37	16	46741676	46741676	+	Splice_Site	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:46741676C>T	ENST00000394809.4	-	13	2516		c.e13-1		MYLK3_ENST00000536476.1_Splice_Site|MYLK3_ENST00000562104.1_Splice_Site	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3						cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGAAATGTTTCTTGAGGCAAG	0.393000													13	47					0	0	0.016723	0	0
CPA6	57094	broad.mit.edu	37	8	68334861	68334861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:68334861C>T	ENST00000297770.4	-	11	1407	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CPA6_ENST00000297769.4_Missense_Mutation_p.E154K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	398					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E398K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TCACGTAGTTCGAAAGCAAAT	0.383000													38	94					0	0	0.006230	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926322	45926322	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:45926322C>G	ENST00000395629.2	+	9	2130	c.1800C>G	c.(1798-1800)gtC>gtG	p.V600V	MAPK8IP1_ENST00000241014.2_Silent_p.V610V			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	610	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCAGCTGTGTCCTGGAGATCA	0.607000													28	86					0	0	0.004656	0	0
ACACB	32	broad.mit.edu	37	12	109673414	109673414	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:109673414G>C	ENST00000338432.7	+	33	4527	c.4408G>C	c.(4408-4410)Gaa>Caa	p.E1470Q	ACACB_ENST00000543201.1_Missense_Mutation_p.E136Q|ACACB_ENST00000377854.5_Missense_Mutation_p.E1400Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E1470Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1470					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTTGCAGAAAGAATTTCCCAA	0.328000													12	20					0	0	0.013537	0	0
WSB1	26118	broad.mit.edu	37	17	25628934	25628934	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:25628934G>T	ENST00000262394.2	+	2	477	c.161G>T	c.(160-162)gGa>gTa	p.G54V	WSB1_ENST00000581185.1_Missense_Mutation_p.G54V|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.G23V|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000583193.1_Intron	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	54					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGGTCACAAGGACATCGCACA	0.413000													35	201					3.76114e-14	4.12987e-14	0.019004	1	0
EPHA5	2044	broad.mit.edu	37	4	66356413	66356413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:66356413G>C	ENST00000273854.3	-	5	1684	c.1084C>G	c.(1084-1086)Cgg>Ggg	p.R362G	EPHA5_ENST00000354839.4_Missense_Mutation_p.R362G|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.R362G	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	362	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATGGCATTCCGAGGAGCAGAG	0.393000										TSP Lung(17;0.13)			13	37					0	0	0.016723	0	0
COLGALT2	23127	broad.mit.edu	37	1	183938459	183938459	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:183938459T>G	ENST00000361927.4	-	5	1147	c.776A>C	c.(775-777)gAc>gCc	p.D259A	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D259A	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		CCAGGTGTAGTCCTGGTGTGG	0.537000													24	71					0	0	0.018920	0	0
RGP1	9827	broad.mit.edu	37	9	35750328	35750328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:35750328C>A	ENST00000378078.4	+	3	346	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	RGP1_ENST00000456972.2_Missense_Mutation_p.Q109K	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	69										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGACTCTAGTCAGCCAGATGT	0.612000													9	31					9.05144e-12	9.8743e-12	0.016723	1	0
STRIP1	85369	broad.mit.edu	37	1	110590408	110590408	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:110590408G>A	ENST00000369795.3	+	15	1600	c.1578G>A	c.(1576-1578)aaG>aaA	p.K526K	STRIP1_ENST00000461054.1_3'UTR|STRIP1_ENST00000369796.1_Silent_p.K431K	NM_033088.2	NP_149079.2			striatin interacting protein 1																		CCCTCCTGAAGATCCTGTTGG	0.517000													5	6					0	0	0.001168	0	0
DCAF17	80067	broad.mit.edu	37	2	172314572	172314572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:172314572C>A	ENST00000375255.3	+	7	1046	c.719C>A	c.(718-720)aCc>aAc	p.T240N	DCAF17_ENST00000539783.1_Missense_Mutation_p.T240N|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	240						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AGCTTCCAAACCATCGCTGAA	0.388000													81	231					1.21826e-31	1.36445e-31	0.014410	1	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	44					0	0	0.013537	0	0
WAS	7454	broad.mit.edu	37	X	48542320	48542320	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:48542320C>G	ENST00000376701.4	+	1	153	c.78C>G	c.(76-78)ctC>ctG	p.L26L	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	26					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCTCCACCCTCCTCCAGGACC	0.617000			"""Mis, N, F, S"""			lymphoma							16	50					0	0	0.007413	0	0
LIPE	3991	broad.mit.edu	37	19	42912238	42912238	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:42912238A>G	ENST00000244289.4	-	4	1822	c.1546T>C	c.(1546-1548)Ttt>Ctt	p.F516L	LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	516					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCGATGGCAAAGCGGCCGCTG	0.627000													14	74					0	0	0.004007	0	0
ZNF300	91975	broad.mit.edu	37	5	150276445	150276445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:150276445C>T	ENST00000446148.2	-	7	831	c.404G>A	c.(403-405)gGt>gAt	p.G135D	ZNF300_ENST00000418587.2_Missense_Mutation_p.G83D|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.G119D|ZNF300_ENST00000394226.2_Missense_Mutation_p.G119D	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACAATGAACCATCCCTTGT	0.413000													26	24					0	0	0.018920	0	0
OBSCN	84033	broad.mit.edu	37	1	228495827	228495827	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:228495827T>C	ENST00000570156.2	+	58	15427	c.15353T>C	c.(15352-15354)aTt>aCt	p.I5118T	OBSCN_ENST00000284548.11_Missense_Mutation_p.I4161T|OBSCN_ENST00000422127.1_Missense_Mutation_p.I4161T|OBSCN_ENST00000366709.4_Missense_Mutation_p.I1280T|OBSCN_ENST00000366707.4_Missense_Mutation_p.I1795T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4161					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGTGACCATTGTACGGGGG	0.612000													14	68					0	0	0.002450	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318895	21318895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:21318895C>T	ENST00000583088.1	+	3	1136	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81W	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.R81G(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CATCCGCTGGCGGTACATGCT	0.577000										Prostate(3;0.18)			9	89					0	0	0.006214	0	0
GPR112	139378	broad.mit.edu	37	X	135431707	135431707	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:135431707A>T	ENST00000394143.1	+	6	6133	c.5842A>T	c.(5842-5844)Aac>Tac	p.N1948Y	GPR112_ENST00000394141.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000370652.1_Missense_Mutation_p.N1948Y|GPR112_ENST00000412101.1_Missense_Mutation_p.N1743Y|GPR112_ENST00000287534.4_Missense_Mutation_p.N1885Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1948					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATTCTTCCTAACCATGGGCT	0.418000													6	147					0	0	0.001984	0	0
KCNU1	157855	broad.mit.edu	37	8	36671785	36671785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:36671785G>A	ENST00000399881.3	+	8	830	c.793G>A	c.(793-795)Gag>Aag	p.E265K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	265						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCATATTTTGAGTCAATTTA	0.418000													17	18					0	0	0.004990	0	0
VPS13A	23230	broad.mit.edu	37	9	79910535	79910535	+	Silent	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:79910535T>G	ENST00000360280.3	+	33	3845	c.3585T>G	c.(3583-3585)acT>acG	p.T1195T	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.T1195T|VPS13A_ENST00000376636.3_Silent_p.T1156T|VPS13A_ENST00000357409.5_Silent_p.T1195T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1195					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGCTGCTACTGGTGTAAAAG	0.433000													9	50					0	0	0.004482	0	0
ST5	6764	broad.mit.edu	37	11	8736175	8736175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:8736175C>T	ENST00000534127.1	-	10	2309	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	ST5_ENST00000357665.1_Missense_Mutation_p.E642K|ST5_ENST00000526757.1_Missense_Mutation_p.E222K|ST5_ENST00000526099.1_Missense_Mutation_p.E155K|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.E114K|ST5_ENST00000530438.1_Missense_Mutation_p.E222K|ST5_ENST00000313726.6_Missense_Mutation_p.E642K	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	642					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GATGCTGTTTCAATGCTGGAC	0.468000													6	27					0	0	0.001168	0	0
CANT1	124583	broad.mit.edu	37	17	76991155	76991155	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:76991155C>T	ENST00000302345.2	-	3	1274	c.780G>A	c.(778-780)gaG>gaA	p.E260E	CANT1_ENST00000392446.5_Silent_p.E260E|CANT1_ENST00000591773.1_Silent_p.E260E	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	260					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACACCCAGTTCTCGTGGTCCA	0.652000			T	ETV4	prostate								6	13					0	0	0.001168	0	0
PHIP	55023	broad.mit.edu	37	6	79655871	79655871	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:79655871G>C	ENST00000275034.4	-	38	4644	c.4477C>G	c.(4477-4479)Cag>Gag	p.Q1493E	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1493					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCGTTTATCTGAGCAGCATTG	0.433000													7	89					0	0	0.001984	0	0
USP8	9101	broad.mit.edu	37	15	50774167	50774167	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:50774167G>C	ENST00000433963.1	+	12	2208	c.1708G>C	c.(1708-1710)Gat>Cat	p.D570H	USP8_ENST00000425032.3_Missense_Mutation_p.D493H|USP8_ENST00000396444.3_Missense_Mutation_p.D570H|USP8_ENST00000307179.4_Missense_Mutation_p.D570H	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	570					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCTGTAGAAGATAGGGGGAA	0.418000													10	29					0	0	0.006214	0	0
PLCE1	51196	broad.mit.edu	37	10	95791784	95791784	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:95791784G>C	ENST00000260766.3	+	2	1615	c.981G>C	c.(979-981)agG>agC	p.R327S	PLCE1_ENST00000371380.2_Missense_Mutation_p.R327S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	327					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTTAGTCAGGAGATTCTGTA	0.403000													13	60					0	0	0.016723	0	0
YWHAE	7531	broad.mit.edu	37	17	1303386	1303386	+	Translation_Start_Site	SNP	G	G	C	rs11552915		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:1303386G>C	ENST00000571732.1	-	0	128				YWHAE_ENST00000264335.8_Missense_Mutation_p.L7V|YWHAE_ENST00000498643.1_5'UTR|YWHAE_ENST00000573026.1_Missense_Mutation_p.L7V|YWHAE_ENST00000575977.1_Missense_Mutation_p.L7V			P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide						apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TGGTACACCAGATCCTCTCGA	0.662000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						19	99					0	0	0.012319	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38810819	38810819	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:38810819G>T	ENST00000420274.1	+	9	941	c.707G>T	c.(706-708)cGa>cTa	p.R236L	PLEKHA2_ENST00000521746.1_Intron|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	236	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	p.R236L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CACCAGGACCGAGAACCACTG	0.463000													87	224					2.16659e-41	2.4347e-41	0.014410	1	0
NCDN	23154	broad.mit.edu	37	1	36031042	36031042	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:36031042C>T	ENST00000373243.2	+	7	2351	c.1968C>T	c.(1966-1968)ccC>ccT	p.P656P	NCDN_ENST00000373253.3_Silent_p.P639P|NCDN_ENST00000356090.4_Silent_p.P656P	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	656					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCTGGCCCCCGCTGCCCTGC	0.682000													11	20					0	0	0.008291	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606867	31606867	+	Splice_Site	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:31606867G>A	ENST00000170150.3	+	10	1050		c.e10-1			NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2							extracellular region	lipid binding										GCTGATTTCAGAGGTCGGATG	0.572000													44	83					0	0	0.011902	0	0
SACS	26278	broad.mit.edu	37	13	23913048	23913048	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr13:23913048A>C	ENST00000382298.3	-	10	5555	c.4967T>G	c.(4966-4968)gTg>gGg	p.V1656G	SACS_ENST00000402364.1_Missense_Mutation_p.V906G|SACS_ENST00000382292.3_Missense_Mutation_p.V1656G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1656					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTTCACTCACTTTTGCTTC	0.398000													16	41					0	0	0.004990	0	0
ALLC	55821	broad.mit.edu	37	2	3749215	3749215	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:3749215C>T	ENST00000252505.3	+	11	1126	c.964C>T	c.(964-966)Cca>Tca	p.P322S	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	341							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACCACTGCTTCCAGTGACCAA	0.488000										HNSCC(21;0.051)			6	13					0	0	0.001168	0	0
MXRA5	25878	broad.mit.edu	37	X	3241681	3241681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:3241681C>T	ENST00000217939.6	-	5	2199	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532000													27	71					0	0	0.007291	0	0
LIMS2	55679	broad.mit.edu	37	2	128412466	128412466	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:128412466T>C	ENST00000409455.1	-	3	796	c.161A>G	c.(160-162)gAa>gGa	p.E54G	LIMS2_ENST00000324938.5_Missense_Mutation_p.E83G|LIMS2_ENST00000409808.2_Missense_Mutation_p.E54G|LIMS2_ENST00000355119.4_Missense_Mutation_p.E59G|LIMS2_ENST00000410011.1_Missense_Mutation_p.E54G|LIMS2_ENST00000545738.2_Missense_Mutation_p.E81G			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	59	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTTCCGGCCTTCAAACTGCAA	0.582000													3	23					0	0	0.004672	0	0
KCTD2	23510	broad.mit.edu	37	17	73049121	73049121	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:73049121A>T	ENST00000581589.1	+	0	446				KCTD2_ENST00000322444.6_Missense_Mutation_p.E154V			Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2							voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					GTGCTGGAGGAAGCGGAGTTT	0.463000													20	21					0	0	0.012319	0	0
FOLH1	2346	broad.mit.edu	37	11	49229949	49229949	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:49229949G>A	ENST00000256999.2	-	1	273	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	FOLH1_ENST00000356696.3_Missense_Mutation_p.L5F|FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	5					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTTTCGTGAAGGAGATTCCAC	0.701000													3	9					0	0	0.004672	0	0
MYH11	4629	broad.mit.edu	37	16	15832485	15832485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:15832485C>T	ENST00000338282.6	-	24	3164	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	MYH11_ENST00000576790.1_Missense_Mutation_p.E1020K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1020K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1027K|MYH11_ENST00000452625.2_Missense_Mutation_p.E1027K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1020					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGGCCTTTTCTTCCTCTTCT	0.358000			T	CBFB	AML								12	71					0	0	0.016723	0	0
FLT4	2324	broad.mit.edu	37	5	180047255	180047255	+	Silent	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:180047255C>A	ENST00000261937.6	-	17	2538	c.2460G>T	c.(2458-2460)ggG>ggT	p.G820G	FLT4_ENST00000393347.3_Silent_p.G820G|FLT4_ENST00000502649.1_Silent_p.G820G	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	820					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGCACCTCCCCGGGGTCCA	0.652000													49	48					1.86277e-20	2.07937e-20	0.014410	1	0
SIX6	4990	broad.mit.edu	37	14	60976681	60976681	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:60976681A>T	ENST00000327720.5	+	1	1013	c.565A>T	c.(565-567)Aag>Tag	p.K189*		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	189					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGCTGCAGCCAAGAACAGGTC	0.647000													6	12					0	0	0.001168	0	0
SLC19A1	6573	broad.mit.edu	37	21	46957703	46957703	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr21:46957703C>T	ENST00000311124.4	-	2	323	c.171G>A	c.(169-171)aaG>aaA	p.K57K	SLC19A1_ENST00000567670.1_Silent_p.K57K|SLC19A1_ENST00000380010.4_Silent_p.K57K	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	57					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGTGAAGTTCTTGTCGGGCC	0.687000													7	7					0	0	0.001984	0	0
BCAS1	8537	broad.mit.edu	37	20	52609131	52609131	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:52609131T>A	ENST00000371440.3	-	7	1319	c.982A>T	c.(982-984)Atc>Ttc	p.I328F	BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000395961.3_Intron|BCAS1_ENST00000434986.2_Missense_Mutation_p.I41F			O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	309						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTAGCCTGGATCTCGGATGTC	0.453000													8	36					0	0	0.003080	0	0
DTX1	1840	broad.mit.edu	37	12	113496163	113496163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:113496163G>A	ENST00000257600.3	+	1	669	c.166G>A	c.(166-168)Gct>Act	p.A56T		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	56	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGGAGGACGCTCGCGGTTC	0.647000													35	89					0	0	0.015359	0	0
IRX1	79192	broad.mit.edu	37	5	3600291	3600291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:3600291C>G	ENST00000302006.3	+	2	1281	c.1229C>G	c.(1228-1230)cCa>cGa	p.P410R	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	410	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTGCACCTCCACCACCGCAG	0.701000													15	69					0	0	0.003163	0	0
LDHC	3948	broad.mit.edu	37	11	18456337	18456337	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:18456337C>T	ENST00000541669.1	+	5	580	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Missense_Mutation_p.R157C|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000546146.1_Missense_Mutation_p.R99C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000280704.4_Missense_Mutation_p.R157C			P07864	LDHC_HUMAN	lactate dehydrogenase C	157					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ACCTGTAACTCGTGTAATTGG	0.368000													40	75					0	0	0.006999	0	0
ME2	4200	broad.mit.edu	37	18	48447048	48447048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:48447048C>G	ENST00000321341.5	+	9	1134	c.862C>G	c.(862-864)Cta>Gta	p.L288V	ME2_ENST00000382927.3_Missense_Mutation_p.L288V	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	288					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TGCAGTAGCTCTAGCAGGTCT	0.348000													40	50					0	0	0.009718	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610702	50610702	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:50610702A>G	ENST00000371824.1	+	2	340	c.83A>G	c.(82-84)aAc>aGc	p.N28S	ELAVL4_ENST00000357083.4_Missense_Mutation_p.N45S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.N28S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.N28S|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000448907.2_Missense_Mutation_p.N31S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.N33S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.N33S			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	28					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCCAGCAACAACAGAAACTGT	0.418000													12	25					0	0	0.010729	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143901	55143901	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:55143901C>T	ENST00000491143.2	+	2	1493	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	487					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGTGGCAAGACGATCTGAGCA	0.572000													7	35					0	0	0.003080	0	0
KIF26B	55083	broad.mit.edu	37	1	245772637	245772637	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:245772637C>G	ENST00000366518.4	+	5	682	c.578C>G	c.(577-579)tCt>tGt	p.S193C	KIF26B_ENST00000407071.2_Missense_Mutation_p.S574C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	574					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGCCATCTCTTGGCTCTTC	0.537000													5	12					0	0	0.014758	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675521	77675521	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:77675521C>T	ENST00000296043.6	+	7	4838	c.3885C>T	c.(3883-3885)ctC>ctT	p.L1295L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1295					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			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)			TCCACCATCTCACCCCTCGTT	0.542000													41	133					0	0	0.007835	0	0
SLC7A6OS	84138	broad.mit.edu	37	16	68344297	68344297	+	Silent	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:68344297A>G	ENST00000263997.6	-	2	430	c.412T>C	c.(412-414)Ttg>Ctg	p.L138L		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	138					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		AGGTCTAACAACTGAAAGCCC	0.627000													10	12					0	0	0.006214	0	0
UNC13B	10497	broad.mit.edu	37	9	35385812	35385812	+	Splice_Site	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:35385812T>C	ENST00000378495.3	+	22	2940		c.e22+2		UNC13B_ENST00000396787.1_Splice_Site|UNC13B_ENST00000378496.4_Splice_Site	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGAATGAAGGTAAGAAATGGA	0.483000													27	97					0	0	0.006320	0	0
DCAF15	90379	broad.mit.edu	37	19	14070284	14070284	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:14070284G>A	ENST00000254337.6	+	7	1233	c.1212G>A	c.(1210-1212)ccG>ccA	p.P404P		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	404										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GGACGGAGCCGGAGGATGGTG	0.687000													25	49					0	0	0.016522	0	0
LRP1	4035	broad.mit.edu	37	12	57538855	57538855	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:57538855G>A	ENST00000243077.3	+	5	1015	c.549G>A	c.(547-549)ccG>ccA	p.P183P	RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000338962.4_Silent_p.P183P|LRP1_ENST00000554174.1_Silent_p.P183P|LRP1_ENST00000553277.1_Silent_p.P183P	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	183	EGF-like 2; calcium-binding (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTGCAGCCGGATAACCGCT	0.572000													17	31					0	0	0.004007	0	0
ZNF449	203523	broad.mit.edu	37	X	134494925	134494925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:134494925C>T	ENST00000339249.4	+	5	1621	c.1481C>T	c.(1480-1482)aCt>aTt	p.T494I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	494					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACAAGTGTACTCATTGTTCT	0.393000													92	135					0	0	0.014410	0	0
TRIO	7204	broad.mit.edu	37	5	14406048	14406048	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:14406048A>G	ENST00000344204.4	+	32	4832	c.4808A>G	c.(4807-4809)gAg>gGg	p.E1603G	TRIO_ENST00000537187.1_Missense_Mutation_p.E1603G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1603					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCCTGAAGGAGCCCATTCAC	0.577000													10	25					0	0	0.006214	0	0
PITPNM1	9600	broad.mit.edu	37	11	67267280	67267280	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:67267280T>C	ENST00000356404.3	-	8	1310	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E362G|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E362G	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	362					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGAAGACCTCCTCACTGTC	0.592000													10	121					0	0	0.008291	0	0
ZNF513	130557	broad.mit.edu	37	2	27601470	27601470	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:27601470C>T	ENST00000323703.6	-	3	861	c.663G>A	c.(661-663)ctG>ctA	p.L221L	ZNF513_ENST00000407879.1_Silent_p.L159L|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	221					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCGCCTCAGGTTGCCCA	0.682000													15	46					0	0	0.004007	0	0
AP3B2	8120	broad.mit.edu	37	15	83335612	83335612	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:83335612C>T	ENST00000261722.3	-	15	1946	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R580H|AP3B2_ENST00000535348.1_Missense_Mutation_p.R548H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	580					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCGGGTGAAGCGCGCCCGGTC	0.597000													17	66					0	0	0.006122	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635216	122635216	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:122635216T>C	ENST00000249284.2	-	1	538	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	158					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGTAGATGCTCCATGGTGAG	0.383000													13	46					0	0	0.016723	0	0
NIN	51199	broad.mit.edu	37	14	51224285	51224285	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:51224285G>A	ENST00000245441.5	-	18	3653	c.3463C>T	c.(3463-3465)Ctg>Ttg	p.L1155L	NIN_ENST00000324330.9_Silent_p.L1155L|NIN_ENST00000453196.1_Silent_p.L1155L|NIN_ENST00000530997.2_Silent_p.L1155L|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Silent_p.L1155L	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1155					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTACTTCCCAGGTCCCGGACC	0.478000			T	PDGFRB	MPD								23	208					0	0	0.014323	0	0
EPHB6	2051	broad.mit.edu	37	7	142566409	142566409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:142566409G>A	ENST00000392957.2	+	15	2985	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q	EPHB6_ENST00000442129.1_Missense_Mutation_p.R733Q|EPHB6_ENST00000411471.2_Missense_Mutation_p.R456Q	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	733	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			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)					AACATCCTGCGGCTGGAGGGC	0.677000													21	36					0	0	0.010504	0	0
CCSER1	401145	broad.mit.edu	37	4	91230090	91230090	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:91230090A>G	ENST00000509176.1	+	2	943	c.655A>G	c.(655-657)Aga>Gga	p.R219G	CCSER1_ENST00000432775.2_Missense_Mutation_p.R219G|CCSER1_ENST00000333691.8_Missense_Mutation_p.R219G	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		GTACCAAGAGAGAGAACCTGT	0.408000													12	30					0	0	0.010729	0	0
ZNF443	10224	broad.mit.edu	37	19	12541320	12541320	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:12541320C>T	ENST00000301547.5	-	4	1863	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	556					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GGCTTCTCTCCAGAGTGAATT	0.388000													11	49					0	0	0.010729	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889205	18889205	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:18889205C>G	ENST00000447925.2	-	3	348	c.79G>C	c.(79-81)Gaa>Caa	p.E27Q	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E27Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E29Q|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E29Q	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	29					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCTAATTTTTCAAGTAACCTC	0.353000													8	26					0	0	0.003080	0	0
TCF21	6943	broad.mit.edu	37	6	134210544	134210544	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:134210544C>T	ENST00000367882.4	+	1	269	c.9C>T	c.(7-9)acC>acT	p.T3T	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.T3T	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	3					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.T3T(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		ACATGTCCACCGGCTCCCTCA	0.522000													14	91					0	0	0.006122	0	0
GDF3	9573	broad.mit.edu	37	12	7842822	7842822	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:7842822C>G	ENST00000329913.3	-	2	794	c.747G>C	c.(745-747)agG>agC	p.R249S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	249					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCTGCTCTCCTTTTCCGAG	0.537000													20	59					0	0	0.014323	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3669239	3669239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:3669239C>T	ENST00000344754.4	-	21	5097	c.5098G>A	c.(5098-5100)Gag>Aag	p.E1700K	SIGLEC1_ENST00000202578.4_Silent_p.V1675V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1700					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTTGAGGTCTCACATGTGGCT	0.612000													5	18					0	0	0.014758	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857127	9857127	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:9857127G>C	ENST00000396573.2	-	14	4583	c.4274C>G	c.(4273-4275)tCg>tGg	p.S1425W	GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1425W|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1425W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1425					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1425L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACATGCTCCGAAATATACAC	0.473000													17	34					0	0	0.004007	0	0
COL14A1	7373	broad.mit.edu	37	8	121290786	121290786	+	Silent	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:121290786G>C	ENST00000297848.3	+	28	3720	c.3450G>C	c.(3448-3450)gtG>gtC	p.V1150V	COL14A1_ENST00000309791.4_Silent_p.V1150V|COL14A1_ENST00000247781.3_Silent_p.V1055V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1150	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGATGATGTGAACAAAATCT	0.353000													18	18					0	0	0.008871	0	0
COL3A1	1281	broad.mit.edu	37	2	189864617	189864617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:189864617C>G	ENST00000304636.3	+	32	2449	c.2279C>G	c.(2278-2280)cCa>cGa	p.P760R	COL3A1_ENST00000317840.5_Missense_Mutation_p.P760R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	760	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAGATGGCCCAAGGGTGAGT	0.438000													3	19					0	0	0.009096	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38591744	38591744	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:38591744C>G	ENST00000222345.6	+	6	2416	c.1907C>G	c.(1906-1908)tCc>tGc	p.S636C		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	636	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			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)			GGCCAGAGCTCCGAGGAGGAG	0.607000													8	28					0	0	0.004482	0	0
OTOP1	133060	broad.mit.edu	37	4	4199228	4199228	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:4199228C>G	ENST00000296358.4	-	5	1357	c.1333G>C	c.(1333-1335)Gaa>Caa	p.E445Q		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	445					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAATGGATTCAAAGATGAAG	0.542000													10	62					0	0	0.006214	0	0
SLC27A4	10999	broad.mit.edu	37	9	131115719	131115719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:131115719G>A	ENST00000300456.3	+	9	1340	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	408					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TTCAATAGCCGCATCCTGTCC	0.617000													4	91					0	0	0.009096	0	0
KL	9365	broad.mit.edu	37	13	33590903	33590903	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr13:33590903C>G	ENST00000380099.3	+	1	333	c.325C>G	c.(325-327)Ctg>Gtg	p.L109V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	109	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GAACGCCAGTCTGCCGTTGGG	0.711000													4	23					0	0	0.009096	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:126707544T>G	ENST00000251772.4	+	1	108	c.39T>G	c.(37-39)ggT>ggG	p.G13G	PLXNA1_ENST00000393409.2_Silent_p.G36G			Q9UIW2	PLXA1_HUMAN	plexin A1	36					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000													5	29					0	0	0.003080	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432019	117432019	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:117432019G>C	ENST00000160373.3	-	4	1322	c.1231C>G	c.(1231-1233)Caa>Gaa	p.Q411E		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	411	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGTGTTTGAGCGGTGGGA	0.522000													34	115					0	0	0.013726	0	0
BDNF	627	broad.mit.edu	37	11	27679532	27679532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:27679532C>T	ENST00000525528.1	-	1	1673	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	BDNF_ENST00000395981.3_Missense_Mutation_p.E194K|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000439476.2_Missense_Mutation_p.E194K|BDNF_ENST00000314915.6_Missense_Mutation_p.E202K|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.E194K|BDNF_ENST00000438929.1_Missense_Mutation_p.E276K|BDNF_ENST00000530861.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.E194K|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.E194K|BDNF_ENST00000418212.1_Missense_Mutation_p.E194K|BDNF_ENST00000395986.2_Missense_Mutation_p.E209K|BDNF_ENST00000532997.1_Missense_Mutation_p.E194K|BDNF_ENST00000533131.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.E194K|BDNF_ENST00000525950.1_Missense_Mutation_p.E194K|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.E194K	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	194						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CTGCAGCCTTCTTTTGTGTAA	0.512000													38	108					0	0	0.005524	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013807	117013807	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:117013807C>G	ENST00000306985.4	+	2	214	c.60C>G	c.(58-60)gtC>gtG	p.V20V	MAP1LC3B2_ENST00000556529.1_Silent_p.V20V	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	20					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						TAGAAGATGTCCGACTTATTC	0.537000													17	96					0	0	0.004007	0	0
FANCL	55120	broad.mit.edu	37	2	58388764	58388764	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:58388764T>C	ENST00000402135.3	-	12	964	c.928A>G	c.(928-930)Atg>Gtg	p.M310V	FANCL_ENST00000403676.1_Missense_Mutation_p.M188V|FANCL_ENST00000403295.3_Missense_Mutation_p.M277V|FANCL_ENST00000233741.4_Missense_Mutation_p.M305V	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	305					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CCACAATCCATAGTAAAATCC	0.333000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				2	19					0	0	0.004672	0	0
ZNF697	90874	broad.mit.edu	37	1	120165638	120165638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:120165638C>T	ENST00000421812.2	-	3	1447	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAAGCCCTTCCCGCACTCGCG	0.667000													3	6					0	0	0.004672	0	0
COLEC12	81035	broad.mit.edu	37	18	335145	335145	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:335145C>A	ENST00000400256.3	-	6	1620	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	471	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTCCCCCTTCTCTCCTTTCT	0.632000													14	42					0.00185496	0.00194771	0.016723	1	0
ROPN1B	152015	broad.mit.edu	37	3	125694519	125694519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:125694519C>G	ENST00000514116.1	+	4	545	c.230C>G	c.(229-231)tCt>tGt	p.S77C	ROPN1B_ENST00000511082.1_5'UTR|ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000251776.4_Missense_Mutation_p.S77C			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	77					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		ATCCTGCATTCTCAGGTAAGG	0.567000													18	42					0	0	0.006122	0	0
ANO4	121601	broad.mit.edu	37	12	101504254	101504254	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:101504254A>G	ENST00000392979.3	+	22	2478	c.2117A>G	c.(2116-2118)aAc>aGc	p.N706S	ANO4_ENST00000299222.9_Missense_Mutation_p.N261S|ANO4_ENST00000550015.1_Missense_Mutation_p.N261S|ANO4_ENST00000392977.3_Missense_Mutation_p.N741S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	741						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTACTGAATAACATAATTGAA	0.398000										HNSCC(74;0.22)			3	73					0	0	0.004672	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276316	15276316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:15276316C>T	ENST00000263388.2	-	31	5753	c.5678G>A	c.(5677-5679)cGa>cAa	p.R1893Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1893					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGAGCGGTTTCGGATGAGAAT	0.592000													6	22					0	0	0.001168	0	0
SCAF4	57466	broad.mit.edu	37	21	33057747	33057747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr21:33057747G>A	ENST00000286835.7	-	18	2642	c.2260C>T	c.(2260-2262)Cct>Tct	p.P754S	SCAF4_ENST00000434667.3_Missense_Mutation_p.P739S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P754S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	754						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAGGAGGAGGAATGGATACT	0.453000													12	63					0	0	0.004990	0	0
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861042	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:125861042A>T	ENST00000373647.4	+	23	2916	c.2782A>T	c.(2782-2784)Aaa>Taa	p.K928*	RABGAP1_ENST00000373643.5_Nonsense_Mutation_p.K267*	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	928					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATCTGAGATTAAAAAAAACAG	0.398000													10	30					0	0	0.010729	0	0
FLG	2312	broad.mit.edu	37	1	152279854	152279854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:152279854G>A	ENST00000368799.1	-	3	7543	c.7508C>T	c.(7507-7509)gCc>gTc	p.A2503V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2503	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGGGAGGCATCAGACCT	0.547000									Ichthyosis				183	353					0	0	0.014410	0	0
CBLL1	79872	broad.mit.edu	37	7	107398754	107398754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:107398754G>A	ENST00000440859.2	+	6	1074	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	CBLL1_ENST00000222597.2_Missense_Mutation_p.E202K|CBLL1_ENST00000415884.2_3'UTR	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	203					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGCTTCACTTGAAAATGTTCA	0.458000													57	125					0	0	0.014410	0	0
KAL1	3730	broad.mit.edu	37	X	8522000	8522000	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:8522000C>G	ENST00000262648.3	-	9	1496	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	449	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TACCTTCTGTCTTCTTCCAGT	0.413000													5	21					0	0	0.001168	0	0
CREBBP	1387	broad.mit.edu	37	16	3777767	3777767	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:3777767G>A	ENST00000262367.5	-	31	8090	c.7281C>T	c.(7279-7281)gtC>gtT	p.V2427V	CREBBP_ENST00000382070.3_Silent_p.V2389V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2427					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGTCCCCGACCAGGGACA	0.562000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						36	131					0	0	0.006230	0	0
C15orf27	123591	broad.mit.edu	37	15	76467994	76467994	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:76467994G>A	ENST00000388942.3	+	8	1023	c.747G>A	c.(745-747)acG>acA	p.T249T	RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	249						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGAGGCTGACGCAGATCTGTC	0.562000													14	55					0	0	0.004007	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495873	6495873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:6495873G>A	ENST00000264071.2	-	4	1008	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R213C			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	213					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TTGAGGGTGCGGAAACAGATG	0.627000													31	105					0	0	0.008361	0	0
CXXC1	30827	broad.mit.edu	37	18	47810844	47810844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:47810844G>A	ENST00000285106.6	-	9	1823	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	CXXC1_ENST00000589940.1_Missense_Mutation_p.A370V|CXXC1_ENST00000412036.2_Missense_Mutation_p.A374V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	370					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGGCAGTGACGCAGGGTCCTT	0.597000													13	120					0	0	0.002450	0	0
APBB1	322	broad.mit.edu	37	11	6431880	6431880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:6431880G>C	ENST00000389906.2	-	2	797	c.698C>G	c.(697-699)tCc>tGc	p.S233C	APBB1_ENST00000311051.3_Missense_Mutation_p.S233C|APBB1_ENST00000299402.6_Missense_Mutation_p.S233C|APBB1_ENST00000533407.1_Intron	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	233					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGAGCCATAGGAGGGGCTGCC	0.592000													11	50					0	0	0.010729	0	0
SLC6A20	54716	broad.mit.edu	37	3	45804560	45804560	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:45804560C>G	ENST00000358525.4	-	9	1423	c.1308G>C	c.(1306-1308)ctG>ctC	p.L436L	SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000456124.2_Silent_p.L436L|SLC6A20_ENST00000353278.4_Silent_p.L399L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	436					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAAGGCACACCAGACCTGGGG	0.592000													13	55					0	0	0.004007	0	0
SKI	6497	broad.mit.edu	37	1	2160913	2160913	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:2160913C>T	ENST00000378536.4	+	1	780	c.708C>T	c.(706-708)ctC>ctT	p.L236L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	236					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGCCCGAGCTCTACAGCAGCC	0.682000													10	17					0	0	0.006214	0	0
LONRF2	164832	broad.mit.edu	37	2	100916183	100916183	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:100916183C>T	ENST00000393437.3	-	5	1902	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K	LONRF2_ENST00000409647.1_Silent_p.K178K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	421					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ACTGACCTTTCTTGGGAATTT	0.408000													22	68					0	0	0.014323	0	0
GYG1	2992	broad.mit.edu	37	3	148712030	148712030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:148712030G>A	ENST00000345003.4	+	2	409	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	GYG1_ENST00000483267.1_Missense_Mutation_p.V37M|GYG1_ENST00000484197.1_Missense_Mutation_p.V37M|GYG1_ENST00000296048.6_Missense_Mutation_p.V37M	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	37					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAGGCTGGTCGTGCTCGCCAC	0.587000													18	65					0	0	0.012319	0	0
CTAG2	30848	broad.mit.edu	37	X	153880412	153880412	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:153880412C>T	ENST00000369585.3	-	3	586	c.534G>A	c.(532-534)caG>caA	p.Q178Q	CTAG2_ENST00000247306.4_3'UTR	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	0						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTAGCGCCTCTGCCCTGAGG	0.602000													22	56					0	0	0.014323	0	0
MYOCD	93649	broad.mit.edu	37	17	12642624	12642624	+	Silent	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:12642624A>T	ENST00000425538.1	+	7	896	c.696A>T	c.(694-696)atA>atT	p.I232I	MYOCD_ENST00000395988.1_Silent_p.I136I|MYOCD_ENST00000343344.4_Silent_p.I232I	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	232					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCACCCCCATAGCCGTGCATG	0.587000													32	39					0	0	0.012213	0	0
RANBP3L	202151	broad.mit.edu	37	5	36265595	36265595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:36265595G>C	ENST00000296604.3	-	5	781	c.296C>G	c.(295-297)tCa>tGa	p.S99*	RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.S99*|RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.S124*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	99					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CACAAGAGCTGATGTCATAAA	0.299000													6	32					0	0	0.001168	0	0
DNAH11	8701	broad.mit.edu	37	7	21646281	21646281	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:21646281T>C	ENST00000328843.6	+	20	3813	c.3782T>C	c.(3781-3783)tTc>tCc	p.F1261S	DNAH11_ENST00000409508.3_Missense_Mutation_p.F1261S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1261	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGGCAGAGTTCAGAGAGAGA	0.338000									Kartagener syndrome				3	10					0	0	0.009096	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582563	136582563	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:136582563C>T	ENST00000531224.1	-	12	2849	c.2597G>A	c.(2596-2598)cGt>cAt	p.R866H	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R815H|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R817H|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R84H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R815H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R864H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R693H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	866					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAAGTACCACGACCTCTTCC	0.408000													25	227					0	0	0.018920	0	0
OR14J1	442191	broad.mit.edu	37	6	29274980	29274980	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:29274980A>G	ENST00000377160.2	+	1	578	c.514A>G	c.(514-516)Att>Gtt	p.I172V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GAAGAGAGTCATTCACCAATT	0.478000													42	90					0	0	0.010771	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88307677	88307677	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:88307677G>C	ENST00000357081.3	-	3	228	c.84C>G	c.(82-84)atC>atG	p.I28M	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.I80M|AGTPBP1_ENST00000337006.4_De_novo_Start_InFrame|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_De_novo_Start_InFrame|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.I28M|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.I28M			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	28					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCTCAGCATTGATCTTCTCCA	0.388000													6	25					0	0	0.001168	0	0
ELP4	26610	broad.mit.edu	37	11	31531473	31531473	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:31531473T>C	ENST00000395934.2	+	1	149	c.142T>C	c.(142-144)Tcc>Ccc	p.S48P	ELP4_ENST00000350638.5_Missense_Mutation_p.S48P|ELP4_ENST00000379163.5_Missense_Mutation_p.S48P			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	48					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TCGACTGGTGTCCATTGCGGG	0.627000													27	59					0	0	0.003954	0	0
SLC25A10	1468	broad.mit.edu	37	17	79673961	79673961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:79673961C>T	ENST00000571730.1	+	4	502	c.371C>T	c.(370-372)gCg>gTg	p.A124V	MRPL12_ENST00000333676.3_Missense_Mutation_p.A124V|SLC25A10_ENST00000541223.1_Missense_Mutation_p.A124V			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	ATCCCCATAGCGAAAGAACGG	0.562000													17	13					0	0	0.006122	0	0
UNC13C	440279	broad.mit.edu	37	15	54916087	54916087	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:54916087G>T	ENST00000545554.1	+	31	6294	c.6294G>T	c.(6292-6294)aaG>aaT	p.K2098N	UNC13C_ENST00000260323.11_Missense_Mutation_p.K2098N|UNC13C_ENST00000537900.1_Missense_Mutation_p.K2096N|UNC13C_ENST00000539562.2_Missense_Mutation_p.K19N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2098	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGACAAGAAGAGAAAACAAG	0.403000													19	45					8.28177e-16	9.15354e-16	0.007413	1	0
SNCAIP	9627	broad.mit.edu	37	5	121761101	121761101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:121761101C>G	ENST00000261367.7	+	7	2626	c.1198C>G	c.(1198-1200)Cta>Gta	p.L400V	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000504884.2_Missense_Mutation_p.S62C|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L400V|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L353V			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	353					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGAAACAATCTATTACATAT	0.428000													55	54					0	0	0.014410	0	0
CEBPG	1054	broad.mit.edu	37	19	33870422	33870422	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:33870422A>T	ENST00000284000.3	+	2	939	c.277A>T	c.(277-279)Aga>Tga	p.R93*		NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	93					B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					CACACTGCAGAGAGTCAATCA	0.438000													9	12					0	0	0.006214	0	0
NRG3	10718	broad.mit.edu	37	10	84745207	84745207	+	Missense_Mutation	SNP	G	G	T	rs150401464	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:84745207G>T	ENST00000372142.2	+	11	1620	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L	NRG3_ENST00000545131.1_Missense_Mutation_p.R296L|NRG3_ENST00000537893.1_Missense_Mutation_p.R296L|NRG3_ENST00000404547.1_Missense_Mutation_p.R670L|NRG3_ENST00000404576.2_Missense_Mutation_p.R450L|NRG3_ENST00000372141.2_Missense_Mutation_p.R646L|NRG3_ENST00000556918.1_Missense_Mutation_p.R476L	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	670					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GATGCCAGACGGTCAGAAGAC	0.483000													15	29					2.32078e-09	2.51543e-09	0.003163	1	0
IGLL1	3543	broad.mit.edu	37	22	23915612	23915612	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:23915612C>G	ENST00000330377.2	-	3	600	c.483G>C	c.(481-483)gaG>gaC	p.E161D	IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	161	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GCGTGGTCATCTCCACGCCCT	0.582000													3	154					0	0	0.009096	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213277818	213277818	+	Silent	SNP	C	C	A	rs56056039	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:213277818C>A	ENST00000366960.3	+	4	435	c.285C>A	c.(283-285)atC>atA	p.I95I	RPS6KC1_ENST00000366959.3_Silent_p.I83I|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	95	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAACTGTTATCGAAGAGAGAA	0.373000													8	50					3.09899e-07	3.32671e-07	0.004482	1	0
LAMA2	3908	broad.mit.edu	37	6	129635848	129635848	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:129635848G>A	ENST00000421865.2	+	24	3509	c.3460G>A	c.(3460-3462)Gga>Aga	p.G1154R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1154	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGCAAATTCGGACTCGATGC	0.527000													9	37					0	0	0.006214	0	0
ITGA2	3673	broad.mit.edu	37	5	52351412	52351412	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:52351412C>T	ENST00000296585.5	+	8	967	c.824C>T	c.(823-825)aCg>aTg	p.T275M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	275	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CGAAGTGCTACGAAAGTAATG	0.373000													15	58					0	0	0.002450	0	0
DOK6	220164	broad.mit.edu	37	18	67365664	67365664	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:67365664C>G	ENST00000382713.5	+	5	624	c.434C>G	c.(433-435)cCt>cGt	p.P145R	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	145	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TATCTTATGCCTACACCAAAC	0.398000													11	37					0	0	0.010729	0	0
CPSF7	79869	broad.mit.edu	37	11	61188974	61188974	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:61188974G>C	ENST00000340437.4	-	3	370	c.290C>G	c.(289-291)cCt>cGt	p.P97R	CPSF7_ENST00000439958.3_Missense_Mutation_p.P54R|CPSF7_ENST00000394888.4_Missense_Mutation_p.P54R|CPSF7_ENST00000541963.1_Missense_Mutation_p.P54R|CPSF7_ENST00000448745.1_Missense_Mutation_p.P54R	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	54	RRM.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTGGCGAACAGGAGGAGGTGG	0.522000													19	79					0	0	0.006122	0	0
PITPNM3	83394	broad.mit.edu	37	17	6373604	6373604	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:6373604G>A	ENST00000262483.8	-	13	1836	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	ACKR6_ENST00000421306.3_Silent_p.D547D|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					AGGCCACCACGTCTGTGGACT	0.652000													5	16					0	0	0.014758	0	0
C4orf33	132321	broad.mit.edu	37	4	130023861	130023861	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:130023861G>A	ENST00000281146.4	+	2	817	c.96G>A	c.(94-96)atG>atA	p.M32I	C4orf33_ENST00000502887.1_Missense_Mutation_p.M32I|C4orf33_ENST00000425929.1_Missense_Mutation_p.M32I	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	32										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GAGTGATGATGGACATTAGTG	0.438000													13	48					0	0	0.002450	0	0
GRIP1	23426	broad.mit.edu	37	12	66990676	66990676	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:66990676C>T	ENST00000359742.4	-	2	327	c.87G>A	c.(85-87)caG>caA	p.Q29Q	GRIP1_ENST00000398016.3_Silent_p.Q29Q|GRIP1_ENST00000286445.7_Silent_p.Q29Q			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	29					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGGCTTTGTCTGGCTGGCGG	0.448000													19	62					0	0	0.012319	0	0
METTL21C	196541	broad.mit.edu	37	13	103338495	103338495	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr13:103338495G>A	ENST00000267273.6	-	4	686	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	227							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AGTCGGTGCTGAACCTGAATT	0.443000													12	42					0	0	0.010729	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011649	46011649	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr21:46011649A>C	ENST00000400368.1	-	1	737	c.717T>G	c.(715-717)tgT>tgG	p.C239W	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	239	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGTGGGCACACAGCACACAG	0.657000													70	197					0	0	0.014410	0	0
DNAH10	196385	broad.mit.edu	37	12	124333280	124333280	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:124333280G>A	ENST00000409039.3	+	33	5624	c.5599G>A	c.(5599-5601)Gtg>Atg	p.V1867M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1867	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCTAGGCCGTGGGGAAGAT	0.443000													4	25					0	0	0.009096	0	0
CCDC33	80125	broad.mit.edu	37	15	74559050	74559050	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:74559050G>A	ENST00000321288.5	+	6	960	c.960G>A	c.(958-960)aaG>aaA	p.K320K	CCDC33_ENST00000398814.3_Silent_p.K117K			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	320	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACAACAGAAAGAAACAGGAGT	0.473000													29	107					0	0	0.008361	0	0
ZNF521	25925	broad.mit.edu	37	18	22806343	22806343	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr18:22806343G>C	ENST00000361524.3	-	4	1687	c.1539C>G	c.(1537-1539)ttC>ttG	p.F513L	ZNF521_ENST00000538137.2_Missense_Mutation_p.F513L|ZNF521_ENST00000584787.1_Missense_Mutation_p.F293L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	513					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGGACAAAAGAATGCATTAC	0.458000			T	PAX5	ALL								21	51					0	0	0.008871	0	0
PLCE1	51196	broad.mit.edu	37	10	95791831	95791831	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:95791831G>C	ENST00000260766.3	+	2	1662	c.1028G>C	c.(1027-1029)gGa>gCa	p.G343A	PLCE1_ENST00000371380.2_Missense_Mutation_p.G343A	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	343					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTGTATACTGGAACAAGAGCA	0.423000													9	39					0	0	0.004482	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1812845	1812845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:1812845G>A	ENST00000250894.4	+	16	1890	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R572H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	578					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGCTTCAGCCGCCTCTTCAGC	0.677000													28	66					0	0	0.004656	0	0
CKLF	51192	broad.mit.edu	37	16	66597116	66597116	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:66597116G>A	ENST00000264001.4	+	3	478	c.329G>A	c.(328-330)gGa>gAa	p.G110E	CKLF_ENST00000351137.4_Missense_Mutation_p.G57E|CKLF_ENST00000345436.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.G110E|CKLF_ENST00000563092.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000532838.1_Missense_Mutation_p.G57E|CKLF_ENST00000362093.4_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ACAGTTGGTGGAGGGGTAAGT	0.368000													8	35					0	0	0.004482	0	0
SETDB1	9869	broad.mit.edu	37	1	150900253	150900253	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:150900253G>A	ENST00000271640.5	+	2	253	c.63G>A	c.(61-63)gaG>gaA	p.E21E	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Silent_p.E21E|SETDB1_ENST00000368962.2_Silent_p.E21E|SETDB1_ENST00000368963.1_Silent_p.E21E	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCTGAAGAGATTGCAGAGC	0.463000													17	92					0	0	0.004990	0	0
PLCE1	51196	broad.mit.edu	37	10	95791437	95791437	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:95791437G>T	ENST00000260766.3	+	2	1268	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	PLCE1_ENST00000371380.2_Missense_Mutation_p.D212Y	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	212					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.D212N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTTTAGACGATTGTGGAAA	0.388000													16	45					1.62849e-17	1.80585e-17	0.004007	1	0
SALL1	6299	broad.mit.edu	37	16	51174819	51174819	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:51174819C>T	ENST00000440970.1	-	2	1454	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SALL1_ENST00000251020.4_Silent_p.A438A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	438					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A438A(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTACTTTTCGCTTCAAAGG	0.488000													33	95					0	0	0.013726	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994964	51994964	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:51994964C>T	ENST00000291707.3	-	8	1774	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	SIGLEC12_ENST00000598614.1_Silent_p.A455A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	573					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACTGAGGCCTCGCTTTGTGGA	0.597000													16	159					0	0	0.006122	0	0
HLA-G	3135	broad.mit.edu	37	6	29796372	29796372	+	Silent	SNP	C	C	T	rs141841160		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:29796372C>T	ENST00000428701.1	+	4	574	c.396C>T	c.(394-396)cgC>cgT	p.R132R	HLA-G_ENST00000360323.6_Silent_p.R132R|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Silent_p.R137R	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	132	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCGACGGACGCCTCCTCCGCG	0.672000													23	83					0	0	0.003954	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899295	112899295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:112899295G>C	ENST00000374530.3	+	8	1651	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	AKAP2_ENST00000434623.2_Missense_Mutation_p.E349Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.E349Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E491Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.E260Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.E491Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.E491Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		260							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GGAACATCTGGAGTCGCACAA	0.557000													11	18					0	0	0.013537	0	0
POLR1A	25885	broad.mit.edu	37	2	86267597	86267597	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:86267597C>T	ENST00000263857.6	-	25	4036	c.3658G>A	c.(3658-3660)Gga>Aga	p.G1220R	POLR1A_ENST00000409681.1_Missense_Mutation_p.G1220R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1220					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGGGCTCTCCGATGCTCTGG	0.627000													11	41					0	0	0.008291	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496770	20496770	+	RNA	SNP	T	T	C	rs3865047	by1000genomes	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:20496770T>C	ENST00000555186.1	+	0	823					NR_038836.1																						TTATAGTGTGTATTTTAATTA	0.353000													8	12					0	0	0.003080	0	0
BRWD3	254065	broad.mit.edu	37	X	79980467	79980467	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:79980467C>T	ENST00000373275.4	-	15	1702	c.1486G>A	c.(1486-1488)Gac>Aac	p.D496N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	496										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTCCCCCGGTCAAGGTCCCAA	0.388000													8	14					0	0	0.004482	0	0
AMBP	259	broad.mit.edu	37	9	116823771	116823771	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:116823771G>A	ENST00000265132.3	-	8	1048	c.786C>T	c.(784-786)ggC>ggT	p.G262G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	262	BPTI/Kunitz inhibitor 1.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCATGCAGCCGCCGTACTGGA	0.577000													24	86					0	0	0.018920	0	0
ABCC8	6833	broad.mit.edu	37	11	17418492	17418492	+	Missense_Mutation	SNP	C	C	G	rs138642224	byFrequency	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:17418492C>G	ENST00000302539.4	-	33	4218	c.4093G>C	c.(4093-4095)Gtc>Ctc	p.V1365L	ABCC8_ENST00000389817.3_Missense_Mutation_p.V1364L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1364	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGCATTGACGTGCTTCAGC	0.612000													11	46					0	0	0.010729	0	0
OSBPL2	9885	broad.mit.edu	37	20	60835072	60835072	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr20:60835072G>A	ENST00000313733.3	+	3	275	c.73G>A	c.(73-75)Gag>Aag	p.E25K	OSBPL2_ENST00000358053.2_Splice_Site|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	25					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGAATTTTCAGAGGCAAATCA	0.423000													23	55					0	0	0.004656	0	0
TRIP11	9321	broad.mit.edu	37	14	92461767	92461767	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:92461767G>A	ENST00000267622.4	-	14	5358	c.4985C>T	c.(4984-4986)tCt>tTt	p.S1662F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1662				QLSVSQEQ -> RFCLSGT (in Ref. 1; AAD09135).	transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTTCCTGAGAGACAGAAAG	0.458000			T	PDGFRB	AML								24	23					0	0	0.014323	0	0
CECR1	51816	broad.mit.edu	37	22	17662734	17662734	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:17662734T>A	ENST00000399839.1	-	9	1688	c.1418A>T	c.(1417-1419)aAa>aTa	p.K473I	CECR1_ENST00000449907.2_Missense_Mutation_p.K431I|CECR1_ENST00000330232.4_Missense_Mutation_p.K232I|CECR1_ENST00000262607.3_Missense_Mutation_p.K473I|CECR1_ENST00000399837.2_Missense_Mutation_p.K473I			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	473					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGCCAGCTGTTTGAGGGTCCT	0.547000													26	50					0	0	0.004656	0	0
GLIS3	169792	broad.mit.edu	37	9	3937164	3937164	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:3937164G>A	ENST00000324333.10	-	4	1464	c.1271C>T	c.(1270-1272)tCa>tTa	p.S424L	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S579L	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	424					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTCAAGCCTTGAAAAGGCCTT	0.458000													9	69					0	0	0.008291	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564443	176564443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:176564443G>A	ENST00000367662.3	+	3	2867	c.1703G>A	c.(1702-1704)aGc>aAc	p.S568N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S568N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	568	Metalloprotease.			S -> N (in Ref. 2; AAL17780).	cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			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						TGGCAGCTGAGCGTCCACCAG	0.567000													21	81					0	0	0.010504	0	0
FAM135B	51059	broad.mit.edu	37	8	139263255	139263255	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:139263255A>C	ENST00000395297.1	-	6	541	c.371T>G	c.(370-372)tTg>tGg	p.L124W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	124										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACATCCCTCAACCTAGAAGG	0.592000										HNSCC(54;0.14)			42	109					0	0	0.011902	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183044	11183044	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:11183044C>G	ENST00000390675.2	-	1	962	c.891G>C	c.(889-891)gtG>gtC	p.V297V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	297					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						CCCAGTACCTCACTTGCCGCA	0.428000													48	182					0	0	0.014410	0	0
FGGY	55277	broad.mit.edu	37	1	59812064	59812064	+	Silent	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:59812064G>C	ENST00000371218.4	+	4	643	c.459G>C	c.(457-459)ctG>ctC	p.L153L	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Silent_p.L153L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	153					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TTCTGTGGCTGAAAGAGGTGA	0.498000													9	19					0	0	0.006214	0	0
TTBK1	84630	broad.mit.edu	37	6	43214425	43214425	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr6:43214425G>A	ENST00000259750.4	+	2	110	c.27G>A	c.(25-27)aaG>aaA	p.K9K		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	9						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCGCCCTTAAGGACGAAACCA	0.672000													10	34					0	0	0.006214	0	0
CD1D	912	broad.mit.edu	37	1	158152778	158152778	+	Missense_Mutation	SNP	C	C	T	rs139209490	by1000genomes	TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr1:158152778C>T	ENST00000368171.3	+	5	1217	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	240	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAGTGGATGCGGGGTGAGCA	0.632000													5	142					0	0	0.014758	0	0
PFKP	5214	broad.mit.edu	37	10	3178029	3178029	+	Splice_Site	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr10:3178029G>C	ENST00000381075.2	+	23	2424	c.2201_splice	c.e23+1	p.E734_splice	PFKP_ENST00000381125.4_Splice_Site_p.E742_splice|PFKP_ENST00000381072.1_Splice_Site_p.E160_splice	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	742					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AACGGATTTTGAGTAAGTTGG	0.453000													6	23					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179474959	179474959	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:179474959C>T	ENST00000589042.1	-	271	51518	c.51294G>A	c.(51292-51294)atG>atA	p.M17098I	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M15457I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M14530I|TTN_ENST00000342175.6_Missense_Mutation_p.M8225I|TTN_ENST00000359218.5_Missense_Mutation_p.M8158I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M8033I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15457	Ig-like 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCACCAGACATGACTGGTA	0.443000													144	169					0	0	0.014410	0	0
ZNF415	55786	broad.mit.edu	37	19	53612314	53612314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr19:53612314G>T	ENST00000455735.2	-	7	1448	c.1128C>A	c.(1126-1128)taC>taA	p.Y376*	ZNF415_ENST00000500065.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Y376*|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Y340*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.Y98*|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.Y315*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.Y328*|ZNF415_ENST00000597748.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTTTACATGTGTAAGGTTTCT	0.398000													40	41					5.71845e-15	6.29967e-15	0.005524	1	0
SLC5A7	60482	broad.mit.edu	37	2	108608589	108608589	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:108608589A>G	ENST00000264047.2	+	3	482	c.206A>G	c.(205-207)aAt>aGt	p.N69S	SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Missense_Mutation_p.N69S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	69					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGGTATATCAATGGCACAGCT	0.458000													16	24					0	0	0.004990	0	0
DMD	1756	broad.mit.edu	37	X	31986549	31986549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chrX:31986549G>C	ENST00000357033.4	-	45	6727	c.6521C>G	c.(6520-6522)tCa>tGa	p.S2174*	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.S2170*|DMD_ENST00000541735.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2174					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTGTTTTTGAGGATTGCTG	0.458000													23	72					0	0	0.012319	0	0
C7orf33	202865	broad.mit.edu	37	7	148288041	148288041	+	Silent	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr7:148288041C>G	ENST00000307003.2	+	1	385	c.24C>G	c.(22-24)ctC>ctG	p.L8L		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	8										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTCAAAGCCTCAGCCTTGAAG	0.537000													10	65					0	0	0.008291	0	0
IDUA	3425	broad.mit.edu	37	4	995557	995557	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr4:995557C>G	ENST00000453894.1	+	5	627	c.539C>G	c.(538-540)aCc>aGc	p.T180S	IDUA_ENST00000247933.4_Missense_Mutation_p.T227S|IDUA_ENST00000514224.1_Missense_Mutation_p.T95S			P35475	IDUA_HUMAN	iduronidase, alpha-L-	227					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TCCTTCCACACCCCACCGCGA	0.711000													3	16					0	0	0.009096	0	0
KCTD5	54442	broad.mit.edu	37	16	2757382	2757382	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:2757382G>C	ENST00000564195.1	+	5	676	c.667G>C	c.(667-669)Gaa>Caa	p.E223Q	KCTD5_ENST00000301738.4_3'UTR			Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	0					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAGATGTAATGAACTGCCATG	0.433000													9	25					0	0	0.006214	0	0
TNIK	23043	broad.mit.edu	37	3	170802911	170802911	+	Silent	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:170802911G>A	ENST00000436636.2	-	25	3338	c.2994C>T	c.(2992-2994)gcC>gcT	p.A998A	TNIK_ENST00000341852.6_Silent_p.A914A|TNIK_ENST00000357327.5_Silent_p.A969A|TNIK_ENST00000488470.1_Silent_p.A943A|TNIK_ENST00000460047.1_Silent_p.A935A|TNIK_ENST00000470834.1_Silent_p.A961A|TNIK_ENST00000538048.1_Silent_p.A950A|TNIK_ENST00000475336.1_Silent_p.A906A|TNIK_ENST00000284483.8_Silent_p.A990A|TNIK_ENST00000369326.5_Silent_p.A976A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	998	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.A998A(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTTACCTGCGGCTGATGATT	0.483000													3	8					0	0	0.004672	0	0
DLK1	8788	broad.mit.edu	37	14	101201194	101201194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:101201194G>A	ENST00000341267.4	+	5	1355	c.1113G>A	c.(1111-1113)atG>atA	p.M371I	DLK1_ENST00000331224.6_Missense_Mutation_p.M298I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	371					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGATCGACATGACCACCTTCA	0.562000													35	97					0	0	0.004878	0	0
MKL1	57591	broad.mit.edu	37	22	40815316	40815316	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:40815316G>A	ENST00000396617.3	-	12	1716	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	MKL1_ENST00000407029.1_Missense_Mutation_p.R376C|MKL1_ENST00000402042.1_Missense_Mutation_p.R326C|MKL1_ENST00000355630.3_Missense_Mutation_p.R376C			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	376	SAP.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTCGAAGGCGCTCAATCAGC	0.607000			T	RBM15	acute megakaryocytic leukemia								8	26					0	0	0.006214	0	0
PLEC	5339	broad.mit.edu	37	8	144998292	144998292	+	Silent	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr8:144998292C>T	ENST00000322810.4	-	31	6385	c.6216G>A	c.(6214-6216)gaG>gaA	p.E2072E	PLEC_ENST00000354958.2_Silent_p.E1913E|PLEC_ENST00000345136.3_Silent_p.E1935E|PLEC_ENST00000354589.3_Silent_p.E1935E|PLEC_ENST00000356346.3_Silent_p.E1921E|PLEC_ENST00000527096.1_Silent_p.E1958E|PLEC_ENST00000398774.2_Silent_p.E1903E|PLEC_ENST00000357649.2_Silent_p.E1939E|PLEC_ENST00000436759.2_Silent_p.E1962E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2072	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCCGCCTTCTCGAAGCTCG	0.701000													15	28					0	0	0.002450	0	0
WDR16	146845	broad.mit.edu	37	17	9545105	9545105	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:9545105C>G	ENST00000352665.5	+	13	1709	c.1640C>G	c.(1639-1641)tCg>tGg	p.S547W	RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.S557W|WDR16_ENST00000396219.3_Missense_Mutation_p.S479W	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	547						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGTCTGGGTCGATAAATGGC	0.458000													20	71					0	0	0.010504	0	0
MARCH4	57574	broad.mit.edu	37	2	217124226	217124226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:217124226C>A	ENST00000273067.4	-	4	2808	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	348						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GTCTCCTCTTCCGAGGAGGGG	0.622000													18	27					5.35267e-07	5.70951e-07	0.007413	1	0
SSH3	54961	broad.mit.edu	37	11	67077772	67077772	+	Nonsense_Mutation	SNP	G	G	T	rs148598265		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:67077772G>T	ENST00000308127.4	+	13	1823	c.1645G>T	c.(1645-1647)Gag>Tag	p.E549*	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	549					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCTCCTTGGAGCTGGAGAG	0.632000													13	188					4.3838e-07	4.69095e-07	0.016723	1	0
TRMU	55687	broad.mit.edu	37	22	46751462	46751462	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr22:46751462G>C	ENST00000290846.4	+	9	1335	c.995G>C	c.(994-996)cGa>cCa	p.R332P	TRMU_ENST00000381019.3_Missense_Mutation_p.R332P	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	332						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TGCCACTTCCGATTCCGCCAC	0.642000											OREG0026654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	33					0	0	0.010504	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54975892	54975892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr12:54975892G>A	ENST00000257905.8	-	5	441	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732.3	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	91					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						TGCCCCAGGTGATGTTCAACC	0.592000													12	27					0	0	0.002450	0	0
TCN1	6947	broad.mit.edu	37	11	59631479	59631479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr11:59631479C>T	ENST00000257264.3	-	2	264	c.160G>A	c.(160-162)Gct>Act	p.A54T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	54					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATTGACAGCGCTGGTTCCC	0.418000													45	150					0	0	0.009718	0	0
ACVR1C	130399	broad.mit.edu	37	2	158390507	158390507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:158390507C>T	ENST00000243349.7	-	9	1765	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	ACVR1C_ENST00000335450.7_Missense_Mutation_p.G389R|ACVR1C_ENST00000348328.5_Missense_Mutation_p.G312R|ACVR1C_ENST00000409680.3_Missense_Mutation_p.G419R	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	469	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CGGGCCGCTCCGTTGGCATAC	0.388000													17	109					0	0	0.006122	0	0
C6	729	broad.mit.edu	37	5	41143093	41143093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr5:41143093C>G	ENST00000263413.3	-	18	2903	c.2639G>C	c.(2638-2640)tGt>tCt	p.C880S	C6_ENST00000337836.5_Missense_Mutation_p.C880S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	880	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAGGCAGACACATTTGGAAGT	0.458000													12	53					0	0	0.013537	0	0
ROCK2	9475	broad.mit.edu	37	2	11389837	11389837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:11389837delA	ENST00000315872.6	-	4	860	c.412delT	c.(412-414)ggfs	p.W138fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	138	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTTCTTCCCAAAAAAAGGCA	0.358													32	118	---	---	---	---					
PMS1	5378	broad.mit.edu	37	2	190660652	190660653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr2:190660652_190660653insG	ENST00000441310.2	+	3	523_524	c.290_291insG	c.(289-291)tggfs	p.W97fs	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000374826.4_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409985.1_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000447232.2_Frame_Shift_Ins_p.W97fs	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	97					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGAAGCCTTGGGGTCAATTT	0.342			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					35	84	---	---	---	---					
PARL	55486	broad.mit.edu	37	3	183551318	183551318	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr3:183551318delA	ENST00000317096.4	-	9	1050	c.990delT	c.(988-990)ttfs	p.F330fs	PARL_ENST00000435888.1_Frame_Shift_Del_p.F246fs|PARL_ENST00000311101.5_Frame_Shift_Del_p.F280fs	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	330					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCATGATCAAAAAATTTCC	0.473													25	59	---	---	---	---					
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr6:76599857_76599858insA	ENST00000369981.3	+	26	3021_3022	c.2742_2743insA	c.(2740-2745)caaaaafs	p.QK914fs	MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs			Q9UM54	MYO6_HUMAN	myosin VI	914					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													7	66	---	---	---	---					
LINC00475	158314	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs58003635		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr9:94904432delG	ENST00000416438.2	+	0	184					NR_027341.1																						GGCCTTCTTTGGGGGGGGGGT	0.612													6	0	---	---	---	---					
CDK4	1019	broad.mit.edu	37	12	58145367	58145369	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:58145367_58145369delCCT	ENST00000257904.6	-	2	497_499	c.132_134delAGG	c.(130-135)ggt>gg	p.GG46del	CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_In_Frame_Del_p.GG46del|CDK4_ENST00000549606.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	46	Poly-Gly.|Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GCCTCCTCCACCTCCTCCTCCAT	0.567			Mis			melanoma			Hereditary Melanoma				20	68	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)del	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													7	200	---	---	---	---					
MAP1A	4130	broad.mit.edu	37	15	43820775	43820775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr15:43820775delC	ENST00000382031.1	+	5	7849	c.7818delC	c.(7816-7818)aafs	p.N2606fs	MAP1A_ENST00000300231.5_Frame_Shift_Del_p.N2368fs|MAP1A_ENST00000399453.1_Frame_Shift_Del_p.N2368fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2368						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCCCTAACCCCCCAGGCC	0.642													12	38	---	---	---	---					
TRIM65	201292	broad.mit.edu	37	17	73888194	73888194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	8b5bfd48-6872-43dc-8c75-4c56f159eed4	g.chr17:73888194delG	ENST00000269383.3	-	4	882	c.817delC	c.(817-819)tgfs	p.L273fs		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	273						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTCACCCAGCTGTTGGTCT	0.632													2	4	---	---	---	---					
PMS1	5378	broad.mit.edu	37	2	190660652	190660653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr2:190660652_190660653insG	ENST00000441310.2	+	3	523_524	c.290_291insG	c.(289-291)tggfs	p.W97fs	PMS1_ENST00000447232.2_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000374826.4_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Frame_Shift_Ins_p.W97fs|PMS1_ENST00000409985.1_Frame_Shift_Ins_p.W97fs	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	97					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGAAGCCTTGGGGTCAATTT	0.342			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					35	84	---	---	---	---					
PARL	55486	broad.mit.edu	37	3	183551318	183551318	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr3:183551318delA	ENST00000317096.4	-	9	1050	c.990delT	c.(988-990)ttfs	p.F330fs	PARL_ENST00000435888.1_Frame_Shift_Del_p.F246fs|PARL_ENST00000311101.5_Frame_Shift_Del_p.F280fs	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	330					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCATGATCAAAAAATTTCC	0.473													25	59	---	---	---	---					
LINC00475	158314	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs58003635		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr9:94904432delG	ENST00000416438.2	+	0	184					NR_027341.1																						GGCCTTCTTTGGGGGGGGGGT	0.612													6	0	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtg>gt	p.VP293del	TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	293	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													7	14	---	---	---	---					
MAP1A	4130	broad.mit.edu	37	15	43820775	43820775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr15:43820775delC	ENST00000382031.1	+	5	7849	c.7818delC	c.(7816-7818)aafs	p.N2606fs	MAP1A_ENST00000300231.5_Frame_Shift_Del_p.N2368fs|MAP1A_ENST00000399453.1_Frame_Shift_Del_p.N2368fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2368						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCCCTAACCCCCCAGGCC	0.642													12	38	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													8	234	---	---	---	---					
TRIM65	201292	broad.mit.edu	37	17	73888194	73888194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7095-01A-21D-2012-08	TCGA-CV-7095-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4aba107-a048-46e5-b0aa-901f076b6f61	4ed92ac0-e019-4e73-aa69-dacbfc8d2ee1	g.chr17:73888194delG	ENST00000269383.3	-	4	882	c.817delC	c.(817-819)tgfs	p.L273fs		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	273						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTCACCCAGCTGTTGGTCT	0.632													2	4	---	---	---	---					
