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
PCDH18	54510	broad.mit.edu	37	4	138451705	138451705	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:138451705G>A	ENST00000344876.4	-	1	1924	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	PCDH18_ENST00000412923.2_Missense_Mutation_p.S513F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.S293F|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	513	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTAGTTATGGAACTTCCTAG	0.418000													48	70					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174200367	174200367	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:174200367G>T	ENST00000251507.4	+	4	590	c.416G>T	c.(415-417)tGt>tTt	p.C139F	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.C102F|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	139	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TACTTAGGATGTATGAAGGTT	0.398000													39	51					1.67305e-13	1.69264e-13	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62862036	62862036	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:62862036C>T	ENST00000512091.1	+	19	3807	c.3060C>T	c.(3058-3060)ttC>ttT	p.F1020F	LPHN3_ENST00000506720.1_Silent_p.F1088F|LPHN3_ENST00000514591.1_Silent_p.F1020F|LPHN3_ENST00000511324.1_Silent_p.F1088F|LPHN3_ENST00000508693.1_Silent_p.F1088F|LPHN3_ENST00000508946.1_Silent_p.F1020F|LPHN3_ENST00000514157.1_Silent_p.F1020F|LPHN3_ENST00000507625.1_Silent_p.F1088F|LPHN3_ENST00000514996.1_Silent_p.F1020F|LPHN3_ENST00000506700.1_Silent_p.F1020F|LPHN3_ENST00000507164.1_Silent_p.F1088F|LPHN3_ENST00000504896.1_Silent_p.F1020F|LPHN3_ENST00000509896.1_Silent_p.F1088F|LPHN3_ENST00000506746.1_Silent_p.F1088F|LPHN3_ENST00000545650.1_Silent_p.F1020F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1007					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.F1020F(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACACCTACTTCATTTGGAGTT	0.393000													37	65					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85472391	85472391	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:85472391G>A	ENST00000369663.5	-	2	705	c.368C>T	c.(367-369)gCg>gTg	p.A123V	TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	123					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGGGAGCGCGCCGGAGACCC	0.701000													30	30					0	0	1	0	0
C1orf192	257177	broad.mit.edu	37	1	161335373	161335373	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:161335373C>T	ENST00000367974.1	-	4	296	c.291G>A	c.(289-291)caG>caA	p.Q97Q		NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	97										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGGATTTTTCTGTATCCATT	0.502000													74	97					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62567807	62567807	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:62567807G>A	ENST00000531709.2	-	10	1171	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	NXF1_ENST00000439713.2_Missense_Mutation_p.P353L|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000294172.2_Intron|NXF1_ENST00000532297.1_Intron	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	0	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTCCCAGGGGGTGAAGGTC	0.607000													13	21					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389662	48389662	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:48389662C>T	ENST00000224600.4	-	1	1329	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	406	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.E406K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTGAGTCTTCGGCTGCAGCG	0.652000													29	31					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415978	86415978	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:86415978C>T	ENST00000361669.2	+	3	1969	c.870C>T	c.(868-870)cgC>cgT	p.R290R	GRM3_ENST00000439827.1_Silent_p.R290R|GRM3_ENST00000536043.1_Silent_p.R162R|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Silent_p.R288R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	290					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCGCCAGCCGCGCCAATGCCT	0.667000													38	55					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105726220	105726220	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:105726220C>T	ENST00000369110.3	-	15	2124	c.1932G>A	c.(1930-1932)gtG>gtA	p.V644V		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	644					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GAAGCGGGACCACGCGGTCAT	0.542000													21	36					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108188196	108188196	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:108188196C>T	ENST00000278616.4	+	43	6680	c.6295C>T	c.(6295-6297)Cat>Tat	p.H2099Y	ATM_ENST00000452508.2_Missense_Mutation_p.H2099Y|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2099	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGAAGAACTTCATTACCAAGC	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			33	25					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186280	101186280	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:101186280G>A	ENST00000294728.2	+	2	414	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	VCAM1_ENST00000347652.2_Missense_Mutation_p.E105K|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.E105K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	105	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TAGGAAATTGGAAAAAGGAAT	0.358000													22	41					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33549701	33549701	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:33549701G>A	ENST00000294517.6	+	5	839	c.252G>A	c.(250-252)ctG>ctA	p.L84L	ADC_ENST00000398167.1_Silent_p.L84L|ADC_ENST00000373441.1_Silent_p.L84L|ADC_ENST00000358680.3_Silent_p.L84L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Silent_p.L84L|ADC_ENST00000373440.1_Silent_p.L84L	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	84					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TGGCCCAGCTGGGGCTGGGCT	0.597000													39	60					0	0	1	0	0
DNAJA4	55466	broad.mit.edu	37	15	78566696	78566696	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:78566696C>T	ENST00000394855.3	+	5	891	c.663C>T	c.(661-663)gaC>gaT	p.D221D	DNAJA4_ENST00000446172.2_Silent_p.D165D|DNAJA4_ENST00000394852.3_Silent_p.D192D|DNAJA4_ENST00000343789.3_Silent_p.D192D	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	192					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						ACCCCAAGGACCGCTGCGAGA	0.592000													23	44					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36871054	36871054	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:36871054C>T	ENST00000429976.2	-	22	8925		c.e22+1		TRANK1_ENST00000301807.6_Splice_Site|TRANK1_ENST00000428977.2_Splice_Site			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1						DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGACTCCTTACCTTCCTTCTT	0.537000													19	32					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	284114	284114	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:284114C>T	ENST00000538872.1	+	14	3582	c.3464C>T	c.(3463-3465)cCc>cTc	p.P1155L	IQSEC3_ENST00000537151.1_Intron|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.P1155L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1155	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCCCACCCCCCTACAACCAC	0.692000													8	4					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10390533	10390533	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:10390533A>T	ENST00000328655.3	+	4	756	c.716A>T	c.(715-717)aAg>aTg	p.K239M	PRSS55_ENST00000522210.1_Missense_Mutation_p.K239M|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	239	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GCCGGATACAAGAATGAGAGC	0.478000													15	27					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8790976	8790976	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:8790976G>A	ENST00000405863.1	+	3	1304	c.393G>A	c.(391-393)gtG>gtA	p.V131V	NXPH1_ENST00000602349.1_Silent_p.V14V|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	131	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TCAAAACAGTGAAGCTGAACC	0.423000													27	44					0	0	1	0	0
UFC1	51506	broad.mit.edu	37	1	161126782	161126782	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:161126782C>T	ENST00000368003.5	+	2	412	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_3'UTR	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	56					protein ufmylation		protein binding|UFM1 conjugating enzyme activity			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTGGTTCCGACTGGAGTCCAA	0.512000													94	146					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190146	49190146	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:49190146G>A	ENST00000406846.2	-	10	1933	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	FSHR_ENST00000346173.3_Missense_Mutation_p.S543F|FSHR_ENST00000304421.4_Missense_Mutation_p.S579F|FSHR_ENST00000541117.1_Missense_Mutation_p.S341F	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	605					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTTTGCTTTGGACACAGTGAT	0.488000									Gonadal Dysgenesis, 46 XX				19	36					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30948416	30948416	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:30948416C>T	ENST00000298139.5	+	15	2036	c.1787C>T	c.(1786-1788)tCt>tTt	p.S596F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	596	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTGTTATCTCTCCCCTTATT	0.358000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				40	53					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129201019	129201019	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:129201019C>T	ENST00000308167.5	-	9	2048	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	ELF4_ENST00000335997.7_Missense_Mutation_p.E557K	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	557					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E557K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGCCCCTCCATGGGGGCC	0.597000			T	ERG	AML								58	96					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55268104	55268104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:55268104C>T	ENST00000275493.2	+	24	3121	c.2944C>T	c.(2944-2946)Cag>Tag	p.Q982*	EGFR_ENST00000454757.2_Nonsense_Mutation_p.Q929*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Nonsense_Mutation_p.Q937*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	982					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTTGTCATTCAGGTACAAAT	0.522000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			43	48					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130038816	130038816	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:130038816C>T	ENST00000223208.4	-	11	1308	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	CEP41_ENST00000343969.5_Silent_p.Q274Q|CEP41_ENST00000541543.1_Silent_p.Q258Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	346					G2/M transition of mitotic cell cycle	centrosome|cytosol											CTGGCAGATTCTGAGCGCTTC	0.582000													86	152					0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102789760	102789760	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:102789760G>A	ENST00000370215.3	-	2	442	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	PDZD7_ENST00000470414.1_Missense_Mutation_p.P73S	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	73						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCTTCGATGGGGGAGTTGATG	0.637000													21	65					0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10603647	10603647	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:10603647C>T	ENST00000544822.1	-	3	496	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	KLRC1_ENST00000536188.1_Missense_Mutation_p.E37K|KLRC1_ENST00000408006.3_Missense_Mutation_p.E37K|KLRC1_ENST00000359151.3_Missense_Mutation_p.E37K|KLRC1_ENST00000347831.5_Missense_Mutation_p.E37K	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	37					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TAGGTTATTTCCTGTTCAGTT	0.398000													45	60					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4127300	4127300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:4127300C>T	ENST00000300738.5	+	3	337	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	RRM1_ENST00000423050.2_Intron	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	45	ATP-cone.				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GAAAGTAATCCAAGGCTTGTA	0.413000													19	31					0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54320636	54320636	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:54320636G>A	ENST00000231009.2	+	2	282		c.e2+1		CTD-2313F11.1_ENST00000596909.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)						proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GCCAATATCGGTGAGTCCTCC	0.458000													15	18					0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48355965	48355965	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:48355965G>A	ENST00000300433.3	+	4	254	c.144G>A	c.(142-144)gaG>gaA	p.E48E	TMEM92_ENST00000507382.1_Silent_p.E48E|TMEM92_ENST00000511882.1_3'UTR	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	48						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						GCTGCCAGGAGAACGAGCTCT	0.612000													21	21					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125231936	125231936	+	RNA	SNP	T	T	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:125231936T>C	ENST00000439075.1	-	0	2809					NR_026876.1																						TTAATACTTCTTAATCTTTCA	0.294000													4	12					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487620	131487620	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:131487620G>A	ENST00000309926.4	+	1	978	c.896G>A	c.(895-897)tGg>tAg	p.W299*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	299						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ACTCACACATGGCTCCTGGCA	0.572000													38	68					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150345295	150345295	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:150345295G>A	ENST00000218316.3	+	1	171	c.102G>A	c.(100-102)gcG>gcA	p.A34A	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	34					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCTGCGCGATGGTTATCA	0.527000													51	93					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29055989	29055989	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:29055989C>T	ENST00000257189.4	+	16	2849	c.2766C>T	c.(2764-2766)atC>atT	p.I922I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	922					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGTTTCCATCCCTGACCCTC	0.507000													19	60					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5079916	5079916	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:5079916C>T	ENST00000321522.2	-	1	941	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTTCCTTTTCCATTCCTTGTT	0.338000													18	31					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44130946	44130946	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:44130946C>T	ENST00000222374.2	-	4	537	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	163	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CTTTCAGCTCCTTGCGGTCCC	0.642000													62	102					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017356	93017356	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:93017356C>T	ENST00000523629.1	-	6	1182	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R216Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R216Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R243Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R254Q|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R206Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	243					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R206Q(1)|p.R254Q(1)|p.R243L(1)|p.R243Q(1)|p.R254L(1)|p.R206L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTGGAGTTCGCCTCTTCCC	0.522000													44	74					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20097050	20097050	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:20097050A>C	ENST00000294543.6	-	6	608	c.367T>G	c.(367-369)Ttc>Gtc	p.F123V	TMCO4_ENST00000375127.1_Missense_Mutation_p.F123V|TMCO4_ENST00000375122.2_Missense_Mutation_p.F123V	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	123						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TTGAGTGAGAAGCTCAGAAGG	0.483000													11	36					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526770	84526770	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:84526770G>A	ENST00000360700.4	+	10	3246	c.2360G>A	c.(2359-2361)gGa>gAa	p.G787E	ZNF711_ENST00000276123.3_Missense_Mutation_p.G741E|ZNF711_ENST00000542798.1_Missense_Mutation_p.G583E|ZNF711_ENST00000395402.1_Missense_Mutation_p.G749E|ZNF711_ENST00000373165.3_Missense_Mutation_p.G741E			Q9Y462	ZN711_HUMAN	zinc finger protein 711	741					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						TGCAAGAAGGGATTCCGAAGA	0.358000													30	47					0	0	1	0	0
SLC35G6	643664	broad.mit.edu	37	17	7385581	7385581	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:7385581C>T	ENST00000412468.2	+	2	393	c.278C>T	c.(277-279)cCc>cTc	p.P93L	ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN	solute carrier family 35, member G6	93	DUF6 1.					integral to membrane											CGTGGCGACCCCCTTCTGGGA	0.597000													6	281					0	0	1	0	0
NBPF18P	441908	broad.mit.edu	37	1	151993765	151993765	+	RNA	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:151993765C>T	ENST00000432386.1	+	0	2600					NR_103561.1																						CTCCTCACTCCGGATGAGCCT	0.572000													25	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412748	179412748	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:179412748G>A	ENST00000589042.1	-	339	93829	c.93605C>T	c.(93604-93606)tCt>tTt	p.S31202F	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22262F|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22137F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29561F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28634F|TTN_ENST00000342175.6_Missense_Mutation_p.S22329F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29561	Fibronectin type-III 127.						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)			GATGACAGAAGAGAAGGCTTC	0.438000													26	41					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862611	14862611	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:14862611C>T	ENST00000285046.5	+	1	2143	c.2033C>T	c.(2032-2034)tCt>tTt	p.S678F	FGD5_ENST00000543601.1_Missense_Mutation_p.S437F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	678					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTGTCTTCCTCTAGGTCCTCT	0.502000													25	46					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317710	30317710	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:30317710C>T	ENST00000375377.1	-	3	1468	c.1367G>A	c.(1366-1368)aGt>aAt	p.S456N		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	456										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGTGACAGGACTGGAGTTATA	0.488000													45	60					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215802303	215802303	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:215802303C>T	ENST00000272895.7	-	51	7692	c.7473G>A	c.(7471-7473)aaG>aaA	p.K2491K	ABCA12_ENST00000389661.4_Silent_p.K2173K|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2491					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.K2491N(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTGTTATTCTTCAAGTGAA	0.383000													13	23					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35479429	35479429	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:35479429C>T	ENST00000229771.6	-	4	424	c.345G>A	c.(343-345)gaG>gaA	p.E115E	TULP1_ENST00000322263.4_Intron	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	115	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCTCACCGTCCTCCGCGTCTG	0.687000													3	4					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216162	55216162	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:55216162C>T	ENST00000340465.2	+	5	568	c.482C>T	c.(481-483)cCg>cTg	p.P161L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	161						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AATGGAAATCCGTGTGATCTG	0.448000													76	122					0	0	1	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733416	106733416	+	RNA	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:106733416C>T	ENST00000390610.2	-	0	138																											ACCTCAGCCCCAGACTGTACC	0.592000													73	111					0	0	1	0	0
IMP4	92856	broad.mit.edu	37	2	131103679	131103679	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:131103679C>T	ENST00000259239.3	+	7	1391	c.683C>T	c.(682-684)tCa>tTa	p.S228L	IMP4_ENST00000409935.1_Missense_Mutation_p.S228L	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	228	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GACTACATATCATTCCGGTGG	0.592000													29	33					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80040803	80040803	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:80040803G>A	ENST00000306749.2	-	33	5972	c.5754C>T	c.(5752-5754)tcC>tcT	p.S1918S	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1918	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.S1918S(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCCGGATCCCGGAGCGAGAAG	0.652000													20	23					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332530	22332530	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:22332530G>A	ENST00000558896.1	+	0	337																											ATTGTCCTGGGAAACCTCTTG	0.393000													59	358					0	0	1	0	0
NUS1	116150	broad.mit.edu	37	6	118015232	118015232	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:118015232G>A	ENST00000368494.3	+	3	749	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	194					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		GCTGTCTCCGGAAGATGGAAA	0.393000													7	105					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683243	100683243	+	Missense_Mutation	SNP	C	C	T	rs139270811		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:100683243C>T	ENST00000306151.4	+	3	8610	c.8546C>T	c.(8545-8547)tCa>tTa	p.S2849L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2849	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAAGCCAGTTCATCTCCTACA	0.517000													178	304					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235707	3235707	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:3235707G>A	ENST00000217939.6	-	6	6169	c.6015C>T	c.(6013-6015)caC>caT	p.H2005H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2005	Ig-like C2-type 4.					extracellular region		p.H2005H(2)		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)				TCCGGTTTTCGTGCAGGGTGA	0.622000													14	24					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118390478	118390478	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:118390478C>T	ENST00000534358.1	+	32	11315	c.11292C>T	c.(11290-11292)caC>caT	p.H3764H	KMT2A_ENST00000354520.4_Silent_p.H3723H|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000389506.5_Silent_p.H3761H|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TGAACCCTCACGGCTCAGCCA	0.507000													3	43					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086283	56086283	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:56086283C>T	ENST00000312711.1	+	1	501	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTACTTTATCCTTCTGTGGCT	0.368000													26	26					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845760	123845760	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:123845760G>A	ENST00000369005.1	+	4	4085	c.3745G>A	c.(3745-3747)Gaa>Aaa	p.E1249K	TACC2_ENST00000515603.1_Missense_Mutation_p.E1249K|TACC2_ENST00000453444.2_Missense_Mutation_p.E1249K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.E1249K|TACC2_ENST00000334433.3_Missense_Mutation_p.E1249K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1249						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAGAGGAGCAGAAGACAGTGG	0.597000													32	90					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180772748	180772748	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:180772748G>A	ENST00000367590.4	+	4	645		c.e4+1		XPR1_ENST00000367589.3_Splice_Site	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1							integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GAACTATCAGGTACTTAGATT	0.383000													29	26					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98376468	98376468	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:98376468C>T	ENST00000339364.5	-	13	2061	c.1941_splice	c.e13-1	p.E648_splice	PIK3AP1_ENST00000371109.3_Splice_Site_p.E247_splice|PIK3AP1_ENST00000371110.2_Splice_Site_p.E470_splice	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	648						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TTAAGATTTTCCTGGAAAAAA	0.408000													17	47					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394635	233394635	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:233394635C>T	ENST00000258229.8	-	5	1207	c.973G>A	c.(973-975)Gag>Aag	p.E325K	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	325						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)				TCTGCTGGCTCCTCCACAGGC	0.582000													41	31					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152807247	152807247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:152807247G>A	ENST00000370186.1	+	4	853	c.527G>A	c.(526-528)tGg>tAg	p.W176*	ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.W176*|ATP2B3_ENST00000349466.2_Nonsense_Mutation_p.W176*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.W176*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.W176*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.W176*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	176					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCAATGACTGGAGCAAGGAG	0.627000													53	102					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096980	53096980	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:53096980C>A	ENST00000341809.3	-	1	267	c.239G>T	c.(238-240)aGt>aTt	p.S80I	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	80	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCAGAAACCACTGGTGCTCCT	0.582000													14	20					4.3838e-07	4.40933e-07	1	1	0
PSG9	5678	broad.mit.edu	37	19	43762387	43762387	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:43762387C>T	ENST00000244293.7	-	4	997	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PSG9_ENST00000596730.1_Missense_Mutation_p.E218K|PSG9_ENST00000593948.1_Missense_Mutation_p.E311K|PSG9_ENST00000270077.3_Missense_Mutation_p.E404K|PSG9_ENST00000291752.5_Missense_Mutation_p.E218K|PSG9_ENST00000443718.3_Missense_Mutation_p.E311K|PSG9_ENST00000418820.2_Missense_Mutation_p.E311K			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	404	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTGGAGATTTCCTTGCCAGTG	0.448000													103	155					0	0	1	0	0
NEK2	4751	broad.mit.edu	37	1	211842669	211842669	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:211842669G>A	ENST00000366999.4	-	6	909	c.771C>T	c.(769-771)taC>taT	p.Y257Y	NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Silent_p.Y257Y|NEK2_ENST00000540251.1_Silent_p.Y214Y	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	257	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AAGGTCGATGGTAATCCTGGG	0.373000													34	31					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10357901	10357901	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:10357901T>C	ENST00000255381.2	-	22	2772	c.2662A>G	c.(2662-2664)Aaa>Gaa	p.K888E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	888					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAGTCATTTTTCTCTTGCATT	0.358000													45	65					0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800495	74800495	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:74800495G>A	ENST00000305159.3	-	1	304	c.264C>T	c.(262-264)tcC>tcT	p.S88S		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GCAAGAATAAGGACAGCATCT	0.493000													24	36					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117374561	117374561	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:117374561C>T	ENST00000321322.6	-	11	2539	c.2539_splice	c.e11+1	p.K846_splice	DSCAML1_ENST00000527706.1_Splice_Site_p.K576_splice	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	786	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGACTCACTCTTGACTGTGA	0.587000													14	4					0	0	1	0	0
TRAJ7	28748	broad.mit.edu	37	14	23006617	23006617	+	RNA	SNP	T	T	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:23006617T>G	ENST00000390530.1	+	0	51																											CAAGTGGTGGTCATACCAAGT	0.512000													21	36					0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111085685	111085685	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:111085685C>T	ENST00000551590.1	+	14	1908	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Silent_p.F589F|TCTN1_ENST00000397655.3_Silent_p.F570F|TCTN1_ENST00000377654.3_3'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	584					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						ACTTCTTCTTCCCGTTTGTTT	0.532000													15	35					0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97367781	97367781	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:97367781C>T	ENST00000415431.1	-	7	1012	c.783G>A	c.(781-783)ggG>ggA	p.G261G	FBP1_ENST00000375326.4_Silent_p.G261G	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	261					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ACAGAAATATCCCTCCGTAGA	0.532000													7	6					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514138	99514138	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:99514138G>A	ENST00000261037.3	+	5	1773	c.1393G>A	c.(1393-1395)Ggg>Agg	p.G465R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G465R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	465	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGGGGAAGCTGGGCAAAAAGG	0.607000													13	12					0	0	1	0	0
LOC647264	647264	broad.mit.edu	37	13	64321086	64321086	+	Silent	SNP	T	T	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr13:64321086T>G	ENST00000453638.2	+	1	153	c.153T>G	c.(151-153)ggT>ggG	p.G51G																	endometrium(2)|lung(1)|urinary_tract(1)	4						atggctctggttatggctgtg	0.562000													20	22					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112349021	112349021	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:112349021C>T	ENST00000389063.2	+	11	1301	c.1103C>T	c.(1102-1104)gCt>gTt	p.A368V	DCP2_ENST00000543319.1_Missense_Mutation_p.A157V|DCP2_ENST00000515408.1_Missense_Mutation_p.A333V	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	368					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TAAACAGATGCTGTATATGAC	0.388000													29	42					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44109674	44109674	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:44109674C>T	ENST00000420999.1	-	5	707	c.624G>A	c.(622-624)gaG>gaA	p.E208E		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	208			E -> K (in dbSNP:rs7062352).				calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GACGTAAGGGCTCTACGTGTT	0.413000													13	33					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97093816	97093816	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:97093816G>A	ENST00000524981.3	+	13	1772	c.1772G>A	c.(1771-1773)gGa>gAa	p.G591E				Q6ZTY8	CL063_HUMAN		565										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATTTTCTATGGAAAAAACATG	0.343000													26	42					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058541	152058541	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:152058541G>A	ENST00000368806.1	-	3	1681	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	539							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CACTCTGTGTGAATGGTGACT	0.527000													47	64					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462939	5462939	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:5462939G>A	ENST00000345221.3	-	4	1631	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	NLRP1_ENST00000354411.3_Silent_p.D359D|NLRP1_ENST00000269280.4_Silent_p.D359D|NLRP1_ENST00000577119.1_Silent_p.D359D|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Silent_p.D359D|NLRP1_ENST00000262467.5_Silent_p.D359D	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	359	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTGGAAGCGGTCCCCATACA	0.587000													38	66					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18438772	18438772	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:18438772G>A	ENST00000338745.6	-	6	2384	c.650C>T	c.(649-651)tCt>tTt	p.S217F	SATB1_ENST00000417717.2_Missense_Mutation_p.S217F|SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Missense_Mutation_p.S217F|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	217					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CACAATGGAAGAAATCATACT	0.363000													26	40					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802990	27802990	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:27802990G>A	ENST00000408964.2	+	1	3602	c.3551G>A	c.(3550-3552)aGa>aAa	p.R1184K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1184										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TATCGTGAAAGAGATAGACCC	0.443000													32	60					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756423	32756423	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr22:32756423G>A	ENST00000249007.4	+	2	763	c.558G>A	c.(556-558)gtG>gtA	p.V186V	RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Silent_p.V157V|RFPL3_ENST00000397468.1_Silent_p.V157V	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	186	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						AGGTGGACGTGGGAACAAGCA	0.552000													19	77					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42355855	42355855	+	Silent	SNP	T	T	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:42355855T>C	ENST00000554171.1	+	5	2459	c.27T>C	c.(25-27)ttT>ttC	p.F9F	LRFN5_ENST00000298119.4_Silent_p.F9F|LRFN5_ENST00000554120.1_Silent_p.F9F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	9						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTTATCTGTTTCTCATTGGCA	0.373000										HNSCC(30;0.082)			9	22					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80040804	80040804	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:80040804G>A	ENST00000306749.2	-	33	5971	c.5753C>T	c.(5752-5754)tCc>tTc	p.S1918F	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1918	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCGGATCCCGGAGCGAGAAGT	0.647000													19	23					0	0	1	0	0
PSEN1	5663	broad.mit.edu	37	14	73659564	73659564	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:73659564C>T	ENST00000324501.5	+	7	1033	c.761C>T	c.(760-762)tCa>tTa	p.S254L	PSEN1_ENST00000406768.1_Missense_Mutation_p.S162L|PSEN1_ENST00000394164.1_Missense_Mutation_p.S250L|PSEN1_ENST00000357710.4_Missense_Mutation_p.S250L|PSEN1_ENST00000344094.3_Missense_Mutation_p.S254L|PSEN1_ENST00000557511.1_Missense_Mutation_p.S254L|PSEN1_ENST00000261970.3_Missense_Mutation_p.S254L	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	254					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		GCTGTGATTTCAGTATATGGT	0.428000													38	49					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140651766	140651766	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:140651766G>A	ENST00000509479.2	-	3	2991	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	708	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGCCTGGGGGCACGGAGGA	0.617000													5	14					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089060	9089060	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:9089060C>T	ENST00000397910.4	-	1	2958	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	919	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCTGAGCTCACTCACTAGG	0.522000													22	30					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686175	100686175	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:100686175G>A	ENST00000306151.4	+	3	11542	c.11478G>A	c.(11476-11478)gtG>gtA	p.V3826V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3826	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTATATCTGTGATGAGTCCTT	0.488000													24	32					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256556	115256556	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:115256556A>C	ENST00000369535.4	-	3	408	c.155T>G	c.(154-156)tTg>tGg	p.L52W		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	52					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGTCCAACAAACAGGTTTC	0.453000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			38	103					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001794	177001794	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:177001794G>A	ENST00000367654.2	-	3	676	c.663C>T	c.(661-663)cgC>cgT	p.R221R	ASTN1_ENST00000361833.2_Silent_p.R221R|ASTN1_ENST00000424564.2_Silent_p.R221R|ASTN1_ENST00000367657.3_Silent_p.R221R|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	221					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGCCCTGCACGCGGGCATTGC	0.597000													14	50					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43770434	43770434	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:43770434C>T	ENST00000389420.3	-	33	5017	c.5018G>A	c.(5017-5019)gGg>gAg	p.G1673E		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1673	TSP type-1 15.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTCATTATCCCAATTCCACA	0.348000													15	27					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4577949	4577949	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:4577949C>T	ENST00000301396.4	-	13	2095	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R	PELP1_ENST00000572293.1_Missense_Mutation_p.G530R|PELP1_ENST00000436683.2_Missense_Mutation_p.G333R|PELP1_ENST00000574876.1_Missense_Mutation_p.G480R|PELP1_ENST00000269230.7_Missense_Mutation_p.G478R			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	480					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCAGGGCTCCCCCGCGGGCTA	0.582000													12	21					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153056638	153056638	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:153056638C>T	ENST00000285900.5	+	7	1289	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	GRIA1_ENST00000518142.1_Missense_Mutation_p.R236C|GRIA1_ENST00000340592.5_Missense_Mutation_p.R316C|GRIA1_ENST00000448073.4_Missense_Mutation_p.R326C|GRIA1_ENST00000521843.2_Missense_Mutation_p.R247C|GRIA1_ENST00000518783.1_Missense_Mutation_p.R326C	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	316					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATATATCTCGCCGGGGGAA	0.567000													15	6					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711119	41711119	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr21:41711119G>T	ENST00000400454.1	-	7	1911	c.1434C>A	c.(1432-1434)gaC>gaA	p.D478E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	478	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGACTCCCCCGTCCCGGACCT	0.572000													32	39					1.04352e-10	1.0542e-10	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55143472	55143472	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:55143472G>A	ENST00000396331.1	+	6	802	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	LILRB1_ENST00000448689.1_Missense_Mutation_p.V149M|LILRB1_ENST00000396321.2_Missense_Mutation_p.V149M|LILRB1_ENST00000396315.1_Missense_Mutation_p.V149M|LILRB1_ENST00000396317.1_Missense_Mutation_p.V149M|LILRB1_ENST00000427581.2_Missense_Mutation_p.V185M|LILRB1_ENST00000396332.4_Missense_Mutation_p.V149M|LILRB1_ENST00000396327.3_Missense_Mutation_p.V149M|LILRB1_ENST00000418536.2_Missense_Mutation_p.V149M|LILRB1_ENST00000434867.2_Missense_Mutation_p.V149M|LILRB1_ENST00000324602.7_Missense_Mutation_p.V149M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	149	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGACTCACAGGTGGCATTTGA	0.567000										HNSCC(37;0.09)			57	85					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133572	91133572	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:91133572A>T	ENST00000373094.1	+	2	3178	c.2333A>T	c.(2332-2334)aAt>aTt	p.N778I	PCDH11X_ENST00000298274.8_Missense_Mutation_p.N778I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N778I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N778I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N778I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N778I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.N778I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N778I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N778I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	778	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCGGTGACCAATGCTACACTG	0.438000													66	108					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642000	57642000	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:57642000G>A	ENST00000254181.4	+	4	2411	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	USP29_ENST00000598197.1_Missense_Mutation_p.D653N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	653					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCACTGATGGACCAGGGAGA	0.502000													27	31					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34033226	34033226	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:34033226G>A	ENST00000373381.4	-	53	8523	c.8347C>T	c.(8347-8349)Cat>Tat	p.H2783Y		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2760	Sushi 19.					integral to membrane|plasma membrane	protein binding	p.H2760N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCAGTGATGATCCTGCTGG	0.542000													21	43					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145101540	145101540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:145101540C>T	ENST00000377470.3	+	5	1561	c.1459C>T	c.(1459-1461)Ccc>Tcc	p.P487S	SPATC1_ENST00000447830.2_Missense_Mutation_p.P440L	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	487										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCCCTGAACCCCAGTGACCA	0.622000													19	36					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125506316	125506316	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:125506316C>T	ENST00000241305.3	-	14	2389	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	745					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCCGCAGCTTCAGCCGCCTGG	0.577000													39	35					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150310528	150310528	+	RNA	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:150310528C>T	ENST00000520773.1	-	0	2793																											CACCAATGCCCTGGGAGGTGA	0.433000													7	0					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206023576	206023576	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:206023576G>A	ENST00000406610.2	+	11	1772	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	PARD3B_ENST00000349953.3_Missense_Mutation_p.G522E|PARD3B_ENST00000462231.1_Missense_Mutation_p.G522E|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Missense_Mutation_p.G522E	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	522	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGAGAAACTGGAACAGACTTG	0.473000													5	78					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153762566	153762566	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:153762566G>A	ENST00000393562.2	-	6	1104	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	G6PD_ENST00000369620.2_Missense_Mutation_p.L211F|G6PD_ENST00000393564.2_Missense_Mutation_p.L211F	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	211					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	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)					AGCACCATGAGGTTCTGCACC	0.642000													12	65					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156752997	156752997	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:156752997C>T	ENST00000537611.2	-	9	1352	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	436						integral to membrane|plasma membrane											GACACACTCACCGCCTTTTGC	0.338000													36	71					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25924423	25924423	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:25924423C>T	ENST00000398988.3	+	11	1463	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000509603.2_Missense_Mutation_p.P477S|KSR1_ENST00000319524.6_Missense_Mutation_p.P477S|KSR1_ENST00000268763.6_Missense_Mutation_p.P340S	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	475					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCCCCCAACCCCTCACCTGG	0.617000													15	23					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373909	86373909	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:86373909G>A	ENST00000604798.1	-	8	1799	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	MGAT4C_ENST00000552808.2_Missense_Mutation_p.R199C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R199C|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R199C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R228C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R199C			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCTTGGAACGAAATTTGACT	0.338000													33	62					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554513	140554513	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:140554513C>T	ENST00000231137.3	+	1	2271	c.2097C>T	c.(2095-2097)ttC>ttT	p.F699F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		699					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGCTCTTCCTCCTCTCGG	0.706000													68	234					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814719	137814719	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:137814719C>T	ENST00000409968.1	+	3	1047	c.869C>T	c.(868-870)tCg>tTg	p.S290L	THSD7B_ENST00000543459.1_Missense_Mutation_p.S149L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S259L|THSD7B_ENST00000272643.3_Missense_Mutation_p.S290L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATCATCATTCGAAGTCTTGG	0.388000													9	43					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228588	3228588	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:3228588G>A	ENST00000217939.6	-	7	7810	c.7656C>T	c.(7654-7656)atC>atT	p.I2552I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2552	Ig-like C2-type 10.					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)				CCATGGCCGTGATCTTCTCGC	0.637000													5	18					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832083	39832083	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:39832083G>A	ENST00000309060.3	-	4	1889	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	ZHX3_ENST00000560361.1_Missense_Mutation_p.L492F|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.L492F|ZHX3_ENST00000432768.2_Missense_Mutation_p.L492F|ZHX3_ENST00000540170.1_Missense_Mutation_p.L492F|ZHX3_ENST00000544979.2_Missense_Mutation_p.L492F|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	492	Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTAGCATCAAGGAAGGCTTGG	0.507000													24	36					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76063300	76063300	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:76063300T>C	ENST00000393004.2	-	4	805	c.584A>G	c.(583-585)aAc>aGc	p.N195S	FILIP1_ENST00000370020.1_Missense_Mutation_p.N96S|FILIP1_ENST00000237172.7_Missense_Mutation_p.N195S			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	195										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTCGCTCTTGTTCATGTAGTC	0.532000													81	101					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76755144	76755144	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:76755144C>T	ENST00000536229.3	+	2	3247	c.2538C>T	c.(2536-2538)agC>agT	p.S846S	SALL3_ENST00000575389.2_Silent_p.S979S|SALL3_ENST00000537592.2_Silent_p.S1051S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1051					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCACTCCTAGCCTGATCTCCA	0.562000													13	42					0	0	1	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979502	124979502	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:124979502G>A	ENST00000368417.1	+	4	504	c.444G>A	c.(442-444)gtG>gtA	p.V148V	NKAIN2_ENST00000368416.1_Silent_p.V148V|NKAIN2_ENST00000545433.1_Silent_p.V133V|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	148						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ACATAGAAGTGGCTCATAGTT	0.542000													36	46					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940786	144940786	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:144940786C>T	ENST00000525985.1	-	2	6707	c.6636G>A	c.(6634-6636)gaG>gaA	p.E2212E				P58107	EPIPL_HUMAN	epiplakin 1	2212						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCGGTCGTCCTCCATGAGCT	0.622000													50	94					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171573	207171573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:207171573G>A	ENST00000374423.3	+	5	2707	c.2321G>A	c.(2320-2322)cGg>cAg	p.R774Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	774							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGAAAAGAACGGCACATTGAC	0.423000													63	83					0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9799458	9799458	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:9799458C>T	ENST00000256460.3	-	11	1162	c.985G>A	c.(985-987)Ggg>Agg	p.G329R	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	329					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GCCGTCTGCCCCTGCCCCTCC	0.652000													34	39					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256541	69256541	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:69256541G>A	ENST00000439696.2	-	2	1027	c.726C>T	c.(724-726)acC>acT	p.T242T	ZFP36L1_ENST00000336440.3_Silent_p.T242T|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	242					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CATCGGGCAGGGTAGGTGAGC	0.677000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	88					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73330619	73330619	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:73330619G>A	ENST00000224721.6	+	7	717	c.712G>A	c.(712-714)Gac>Aac	p.D238N	CDH23_ENST00000299366.7_Missense_Mutation_p.D278N|CDH23_ENST00000461841.3_Missense_Mutation_p.D278N|CDH23_ENST00000398809.4_Missense_Mutation_p.D233N|CDH23_ENST00000398842.3_Missense_Mutation_p.D233N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	233	Cadherin 3.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAGGACATGGACCCCATCTT	0.537000											OREG0020254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	25					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63316497	63316497	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:63316497G>A	ENST00000322893.7	-	8	1711	c.1443C>T	c.(1441-1443)taC>taT	p.Y481Y	KCNH5_ENST00000420622.2_Silent_p.Y481Y|KCNH5_ENST00000394968.1_Silent_p.Y423Y	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	481					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCATCTCATGGTATCGGTTGG	0.373000													22	44					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141259322	141259322	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:141259322A>C	ENST00000389484.3	-	55	9755	c.8784T>G	c.(8782-8784)aaT>aaG	p.N2928K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2928	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAACATTCATTTATATGGC	0.408000										TSP Lung(27;0.18)			33	39					0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160466	132160466	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:132160466G>A	ENST00000378679.3	-	6	1886	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000319854.3_Missense_Mutation_p.P361L	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	361					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGCTCTGGGGTAACTCTGC	0.567000													25	38					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51378726	51378726	+	Silent	SNP	A	A	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:51378726A>G	ENST00000266037.9	+	38	3848	c.3825A>G	c.(3823-3825)ctA>ctG	p.L1275L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1275	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACCGGCCACTACGGGAATTCC	0.572000													9	17					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32587155	32587155	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr22:32587155C>T	ENST00000400236.3	-	5	1676	c.471G>A	c.(469-471)gtG>gtA	p.V157V	RFPL2_ENST00000248983.4_Silent_p.V157V|RFPL2_ENST00000248980.4_Silent_p.V186V|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Silent_p.V247V	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	247							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGCTTGTTCCCACGTCCACCT	0.567000													5	134					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215468	21215468	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:21215468C>T	ENST00000342679.4	+	10	1038	c.789C>T	c.(787-789)atC>atT	p.I263I	MAP2K3_ENST00000361818.5_Silent_p.I234I|MAP2K3_ENST00000316920.6_Silent_p.I234I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	263	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AGATGGCCATCCTGCGGTTCC	0.687000													16	59					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38643425	38643425	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:38643425C>T	ENST00000254051.6	-	4	1309	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	384					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TGGAGAAGACCCTGGTTCTGG	0.607000													71	108					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468986	56468986	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:56468986C>T	ENST00000288221.6	-	2	305	c.50G>A	c.(49-51)aGa>aAa	p.R17K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	17						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACGAGGGGATCTGGAAGGGCT	0.453000													15	30					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9416211	9416211	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:9416211C>T	ENST00000378501.2	+	25	2508	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	PLCB4_ENST00000278655.4_Silent_p.I831I|PLCB4_ENST00000414679.2_Silent_p.I843I|PLCB4_ENST00000378473.3_Silent_p.I843I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.I831I|PLCB4_ENST00000378493.1_Silent_p.I831I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	831					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCCTAGATATCGTGGATGCTT	0.348000													22	35					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566673	4566673	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:4566673G>A	ENST00000360213.1	+	1	253	c.253G>A	c.(253-255)Gga>Aga	p.G85R		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAACTTCTGGGAATCTTCTG	0.498000													33	30					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61764632	61764632	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:61764632C>T	ENST00000423902.2	+	29	6199	c.5720C>T	c.(5719-5721)tCa>tTa	p.S1907L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1907					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCTAACACTTCAACCCTGACT	0.493000													8	16					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	368195	368195	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:368195C>T	ENST00000382329.1	+	2	480	c.93C>T	c.(91-93)ttC>ttT	p.F31F	DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000469391.1_Intron|DOCK8_ENST00000382331.1_Intron			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	0					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTGTCACTTCACACAAGTCC	0.517000													26	18					0	0	1	0	0
C11orf49	79096	broad.mit.edu	37	11	47176775	47176775	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:47176775T>A	ENST00000395460.2	+	5	452	c.414T>A	c.(412-414)gaT>gaA	p.D138E	C11orf49_ENST00000278460.7_Missense_Mutation_p.D138E|C11orf49_ENST00000378615.3_Missense_Mutation_p.D138E|C11orf49_ENST00000536126.1_Missense_Mutation_p.D41E|C11orf49_ENST00000378618.2_Missense_Mutation_p.D138E|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000543718.1_Missense_Mutation_p.D54E	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	138										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CTTTTTCAGATTTCCTCTTTG	0.522000													85	127					0	0	1	0	0
PRSS3	5646	broad.mit.edu	37	9	33798588	33798588	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:33798588G>A	ENST00000361005.5	+	4	730	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	PRSS3_ENST00000379405.3_Missense_Mutation_p.G187S|PRSS3_ENST00000429677.3_Missense_Mutation_p.G180S|PRSS3_ENST00000342836.4_Missense_Mutation_p.G201S|PRSS3_ENST00000495682.1_3'UTR|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	244	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GTTCTGTGTGGGCTTCCTTGA	0.562000													13	96					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			40	101					9.59835e-30	9.79683e-30	1	1	0
MYF6	4618	broad.mit.edu	37	12	81102635	81102635	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:81102635G>A	ENST00000228641.3	+	3	847	c.625G>A	c.(625-627)Gat>Aat	p.D209N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	209					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGCAAGTATTGATTCGTCAGC	0.552000													41	75					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767768	77767768	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:77767768C>T	ENST00000521891.2	+	10	9059	c.8611C>T	c.(8611-8613)Cca>Tca	p.P2871S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2826S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2845S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2826S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2826						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTCACAAGCCCATCCATCCA	0.498000										HNSCC(33;0.089)			27	29					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522286	157522286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:157522286C>T	ENST00000346085.5	+	18	4559	c.4558C>T	c.(4558-4560)Cag>Tag	p.Q1520*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1560*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1507*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1502*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1507	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCCAGCGTCAGCCTTATAT	0.587000													52	72					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23609808	23609808	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:23609808C>T	ENST00000316902.7	-	5	1385	c.660G>A	c.(658-660)aaG>aaA	p.K220K	SLC7A8_ENST00000453702.1_Silent_p.K17K|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000469263.1_Silent_p.K220K|SLC7A8_ENST00000529705.2_Silent_p.K115K	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	220					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAAATGCATTCTTTGGCTCCA	0.572000													62	86					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65427153	65427153	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:65427153C>T	ENST00000519389.1	+	14	2749	c.2570C>T	c.(2569-2571)cCa>cTa	p.P857L	HEPH_ENST00000441993.2_Missense_Mutation_p.P806L|HEPH_ENST00000336279.5_Missense_Mutation_p.P536L|HEPH_ENST00000343002.2_Missense_Mutation_p.P803L|HEPH_ENST00000419594.1_Missense_Mutation_p.P614L|HEPH_ENST00000374727.3_Missense_Mutation_p.P806L			Q9BQS7	HEPH_HUMAN	hephaestin	803	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGACTGGACCAGAAGAACAC	0.493000													12	13					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916370	72916370	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:72916370G>A	ENST00000319642.1	-	2	743	c.561C>T	c.(559-561)agC>agT	p.S187S		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	187					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCCGGCGGCTCAGGGTGC	0.682000													32	44					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102676482	102676482	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:102676482G>A	ENST00000238961.3	+	3	488	c.340G>A	c.(340-342)Gct>Act	p.A114T	FAM178A_ENST00000370269.3_Missense_Mutation_p.A114T|FAM178A_ENST00000370271.3_Missense_Mutation_p.A114T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	114																	TATTATAGAAGCTTTCATGAA	0.423000													12	41					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133719	177133719	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:177133719C>T	ENST00000367654.2	-	1	107	c.94G>A	c.(94-96)Gag>Aag	p.E32K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E32K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E32K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E32K|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	32					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACTCCAGCTCCTTGGATGGA	0.677000													15	18					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52548415	52548415	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:52548415G>A	ENST00000321725.6	+	34	3657	c.3581G>A	c.(3580-3582)gGg>gAg	p.G1194E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1194	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTGGTCCTGGGGGAGGCCCTC	0.622000													37	73					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74751055	74751055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:74751055G>A	ENST00000567435.1	-	2	617	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	UBL7_ENST00000564488.1_Nonsense_Mutation_p.Q52*|UBL7_ENST00000565335.1_Nonsense_Mutation_p.Q52*|UBL7_ENST00000361351.4_Nonsense_Mutation_p.Q52*|UBL7_ENST00000395081.2_Nonsense_Mutation_p.Q52*			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	52	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ACAGACTCCTGGAGTTTGCCA	0.493000													54	77					0	0	1	0	0
PGGT1B	5229	broad.mit.edu	37	5	114552644	114552644	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:114552644G>A	ENST00000419445.1	-	8	890	c.870C>T	c.(868-870)aaC>aaT	p.N290N	PGGT1B_ENST00000379615.3_Silent_p.N213N|PGGT1B_ENST00000514178.1_5'UTR	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	290					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	TTTTCTCAAAGTTAGTGTATT	0.333000													8	15					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186842	47186842	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:47186842C>T	ENST00000447411.1	-	2	219	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	SLC38A4_ENST00000266579.4_Missense_Mutation_p.E5K	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	5					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTTCTCAGTTCCATGGGATCC	0.443000													47	61					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92177850	92177850	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:92177850C>T	ENST00000212355.4	-	13	2581	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	TGFBR3_ENST00000525962.1_Missense_Mutation_p.E706K|TGFBR3_ENST00000370399.2_Missense_Mutation_p.E705K	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	706	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGCGTCAGCTCACACTGTAGA	0.478000													18	31					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8866748	8866748	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:8866748C>T	ENST00000396600.2	+	12	1866	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	ABAT_ENST00000567812.1_Missense_Mutation_p.R325W|ABAT_ENST00000569156.1_Missense_Mutation_p.R310W|ABAT_ENST00000425191.2_Missense_Mutation_p.R310W|ABAT_ENST00000268251.8_Missense_Mutation_p.R310W	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	310					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGACTTCTTTCGGAAGCTGAG	0.557000													28	36					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168552	36168552	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:36168552G>A	ENST00000357641.6	+	2	706	c.453G>A	c.(451-453)gaG>gaA	p.E151E	BRPF3_ENST00000534400.1_Silent_p.E151E|BRPF3_ENST00000443324.2_Silent_p.E151E|BRPF3_ENST00000543502.1_Silent_p.E151E|BRPF3_ENST00000534694.1_Silent_p.E151E|BRPF3_ENST00000339717.7_Silent_p.E151E	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	151					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGGATGCAGAGGTAGAGTATG	0.547000													24	32					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803568	142803568	+	RNA	SNP	A	A	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:142803568A>G	ENST00000423385.1	-	0	1397																											GTCAGGTAAGATTTCATAGAT	0.264000													6	147					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129519128	129519128	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:129519128C>T	ENST00000276218.2	-	1	383	c.294G>A	c.(292-294)ctG>ctA	p.L98L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	98						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CAAAGGTGATCAGCATGACCG	0.592000													97	152					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90755032	90755032	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:90755032G>A	ENST00000354366.3	-	11	2919	c.2687C>T	c.(2686-2688)cCc>cTc	p.P896L	NRDE2_ENST00000357904.3_Missense_Mutation_p.P665L	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GGAATCGGTGGGAGCTGGATT	0.498000													21	30					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390285	61390285	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:61390285G>A	ENST00000544088.1	+	0	893				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTTCTAACATGATGGAAAGAG	0.423000													7	4					0	0	1	0	0
S1PR5	53637	broad.mit.edu	37	19	10624884	10624884	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:10624884G>A	ENST00000439028.3	-	2	929	c.804C>T	c.(802-804)ttC>ttT	p.F268F	S1PR5_ENST00000333430.4_Silent_p.F268F	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	268						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						ACAGCAGCAGGAAGAGGGGGC	0.682000													12	15					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2358623	2358623	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:2358623G>A	ENST00000301732.5	-	11	1813	c.1111_splice	c.e11-1	p.A371_splice	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	371					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTGCCATGTTGGCTGCAGGTG	0.617000													31	51					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336657	30336657	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:30336657C>T	ENST00000375377.1	-	2	186	c.85G>A	c.(85-87)Ggg>Agg	p.G29R		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	29										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCCTGGCGCCCCTTGGGGTTA	0.622000													25	51					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117660595	117660595	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:117660595C>T	ENST00000317775.6	-	26	4585	c.3900G>A	c.(3898-3900)gaG>gaA	p.E1300E	NOS1_ENST00000338101.4_Silent_p.E1334E|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1300					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTGCAGGGTCTCTTCCCTGT	0.572000													37	79					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694899	247694899	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:247694899C>T	ENST00000366487.3	-	2	1276	c.915G>A	c.(913-915)atG>atA	p.M305I	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCTCTAATACCATGTGCCGGA	0.507000													20	18					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17169094	17169094	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:17169094C>T	ENST00000180173.5	-	9	1061	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	MTMR7_ENST00000521857.1_Missense_Mutation_p.D343N|MTMR7_ENST00000398099.3_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	343	Myotubularin phosphatase.|Substrate binding (By similarity).						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GCGGTCCTGTCCCAGCCATCA	0.557000													130	285					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51456272	51456272	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:51456272A>C	ENST00000335891.5	-	8	1957	c.1948T>G	c.(1948-1950)Tgt>Ggt	p.C650G				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1099					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GAGAATGCACAGCAGGTGAAG	0.493000													10	44					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120116050	120116050	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:120116050G>A	ENST00000332843.2	+	5	399	c.358G>A	c.(358-360)Gat>Aat	p.D120N	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	120						collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TACTGTCTGTGATTGTGGAAG	0.378000													32	58					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511464	61511464	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:61511464G>A	ENST00000257215.5	+	20	2748	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	878					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGCCAATGACGAGGAGGAAGA	0.726000													40	74					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564759	142564759	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:142564759G>A	ENST00000392957.2	+	11	2470	c.1683G>A	c.(1681-1683)cgG>cgA	p.R561R	EPHB6_ENST00000442129.1_Silent_p.R561R|EPHB6_ENST00000411471.2_Silent_p.R284R	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	561	Fibronectin type-III 2.					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)					TCCAGGTGCGGGCCCGGACTG	0.622000													48	58					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650545	55650545	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:55650545C>T	ENST00000339140.3	+	1	713	c.401C>T	c.(400-402)tCc>tTc	p.S134F		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	134					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGCCATCTTCCTCCAGTGAG	0.507000													21	37					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97918389	97918389	+	RNA	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:97918389C>T	ENST00000534948.1	+	0	3167							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTTTCTCTCTCCAGAGCCAAC	0.363000													4	23					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420946	105420946	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:105420946G>A	ENST00000333244.5	-	7	961	c.842C>T	c.(841-843)tCg>tTg	p.S281L		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	281						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTCTGACGAGCTGTGTGA	0.612000													6	12					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126141	8126141	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:8126141C>T	ENST00000223145.5	+	8	2174	c.1617C>T	c.(1615-1617)atC>atT	p.I539I		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	539										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGGACCACATCTCTGCTCAGA	0.537000													76	113					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670609	186670609	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:186670609G>A	ENST00000343098.5	+	17	16843	c.16843G>A	c.(16843-16845)Gga>Aga	p.G5615R	FSIP2_ENST00000424728.1_Missense_Mutation_p.G5526R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAATAAAGTGGGAATTTGTAC	0.343000													13	55					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812855	156812855	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:156812855C>T	ENST00000368195.3	-	17	3463	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1023	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAATGCATTCCCGTGGGCTG	0.537000													15	38					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088303	17088303	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:17088303G>A	ENST00000443236.1	-	15	1805	c.1774C>T	c.(1774-1776)Ctt>Ttt	p.L592F	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	545						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCAGATGAAGAGAGGTCACA	0.592000													23	30					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25924424	25924424	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:25924424C>T	ENST00000398988.3	+	11	1464	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000509603.2_Missense_Mutation_p.P477L|KSR1_ENST00000319524.6_Missense_Mutation_p.P477L|KSR1_ENST00000268763.6_Missense_Mutation_p.P340L	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	475					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCCCCCAACCCCTCACCTGGC	0.612000													15	23					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725254	106725254	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:106725254G>A	ENST00000390609.2	-	0	376																											TTCATTTGCAGATACAGCGTG	0.522000													107	347					0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87042739	87042739	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:87042739C>T	ENST00000393761.2	-	4	654	c.596G>A	c.(595-597)tGa>tAa	p.*199*	CD8B_ENST00000349455.3_Silent_p.L211L|CD8B_ENST00000331469.2_Silent_p.L241L|CD8B_ENST00000393759.2_3'UTR	NM_001178100.1	NP_001171571.1	P10966	CD8B_HUMAN	CD8b molecule	0					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CCTATGTTTTCAGGATCCATG	0.493000													175	255					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93090193	93090193	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:93090193C>T	ENST00000359558.2	-	10	989	c.690G>A	c.(688-690)atG>atA	p.M230I	CALCR_ENST00000426151.1_Missense_Mutation_p.M196I|CALCR_ENST00000394441.1_Missense_Mutation_p.M196I|CALCR_ENST00000360249.4_Missense_Mutation_p.M212I|CALCR_ENST00000421592.1_Missense_Mutation_p.M212I	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	212					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TGATGATAATCATAGAATTCA	0.398000													38	63					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308603	248308603	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:248308603G>T	ENST00000366476.1	+	1	154	c.154G>T	c.(154-156)Gac>Tac	p.D52Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATCTACCTGGACACCCAGCT	0.527000													48	207					2.76378e-25	2.81263e-25	1	1	0
TTN	7273	broad.mit.edu	37	2	179603068	179603068	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:179603068C>T	ENST00000589042.1	-	49	14336	c.14112G>A	c.(14110-14112)agG>agA	p.R4704R	TTN_ENST00000359218.5_Silent_p.R4466R|TTN_ENST00000460472.2_Silent_p.R4341R|TTN_ENST00000591111.1_Silent_p.R4387R|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R3460R|TTN_ENST00000342175.6_Silent_p.R4533R|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4387	Ig-like 27.						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)			GTTCGATTTTCCTCTTGATCA	0.468000													11	17					0	0	1	0	0
GTF2H4	2968	broad.mit.edu	37	6	30881663	30881663	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:30881663T>A	ENST00000259895.4	+	14	1515	c.1292T>A	c.(1291-1293)cTc>cAc	p.L431H	GTF2H4_ENST00000376316.2_Missense_Mutation_p.L431H	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	431					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTGGGCGTGCTCGTGTTCGAG	0.642000								Nucleotide excision repair (NER)					11	17					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140651767	140651767	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:140651767G>A	ENST00000509479.2	-	3	2990	c.2134C>T	c.(2134-2136)Ccc>Tcc	p.P712S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	708	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GAGCCTGGGGGCACGGAGGAC	0.622000													5	14					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883266	228883266	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:228883266G>A	ENST00000392056.3	-	7	2350	c.2304C>T	c.(2302-2304)tcC>tcT	p.S768S	SPHKAP_ENST00000344657.5_Silent_p.S768S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	768						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCTGCTGGAGGATTCAGTGG	0.493000													47	67					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431423	135431423	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:135431423C>T	ENST00000394143.1	+	6	5849	c.5558C>T	c.(5557-5559)tCt>tTt	p.S1853F	GPR112_ENST00000412101.1_Missense_Mutation_p.S1648F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1648F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1853F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1790F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1853					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)					CCAAAGACCTCTCCTCCTCCC	0.453000													54	69					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480016	73480016	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:73480016C>T	ENST00000523207.1	+	2	635	c.47C>T	c.(46-48)tCg>tTg	p.S16L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	16					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTCAAGGTCGACACTTTCC	0.512000													23	102					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089029	57089029	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:57089029G>A	ENST00000330619.8	+	6	1918	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	ZNF470_ENST00000391709.3_Missense_Mutation_p.G411E|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GATCACATAGGACTTATTCAG	0.423000													35	36					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94053106	94053106	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:94053106G>A	ENST00000553484.1	+	22	3038	c.2883_splice	c.e22-1	p.E962_splice	UNC79_ENST00000256339.4_Splice_Site_p.E785_splice|UNC79_ENST00000555664.1_Splice_Site_p.E962_splice|UNC79_ENST00000393151.2_Splice_Site_p.E962_splice			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	962						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTTGTATAGGAAATGGCTAA	0.343000													35	42					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361791	9361791	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:9361791C>T	ENST00000456448.1	+	1	186	c.72C>T	c.(70-72)ctC>ctT	p.L24L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CACAGAATCTCACAGGTGTCT	0.493000													13	16					0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3806905	3806905	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:3806905G>A	ENST00000225538.3	-	6	819	c.545C>T	c.(544-546)gCc>gTc	p.A182V		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	182					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GAAGTTCTCGGCCTCTCGGAG	0.607000													19	40					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342430	40342430	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:40342430G>A	ENST00000406785.1	-	8	2966	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	SLC8A1_ENST00000408028.2_Missense_Mutation_p.S954F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S957F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S957F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S926F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S926F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S962F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S926F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S962F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S926F|SLC8A1-AS1_ENST00000435515.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	962					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTCCAGGGAGGAGAAGAAAAT	0.428000													27	37					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101844962	101844962	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:101844962C>T	ENST00000360264.3	+	18	2438	c.2418C>T	c.(2416-2418)gaC>gaT	p.D806D	CUX1_ENST00000550008.2_Silent_p.D739D|CUX1_ENST00000546411.2_Silent_p.D693D|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Silent_p.D795D|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Silent_p.D773D|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.D637D	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	795					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCGGGCTGGACCCCCAGGGAG	0.677000													26	34					0	0	1	0	0
F8A1	8263	broad.mit.edu	37	X	154115752	154115752	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:154115752G>A	ENST00000369446.2	+	1	1118	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	F8_ENST00000360256.4_Intron	NM_012151.3	NP_036283.2			coagulation factor VIII-associated 1											endometrium(1)|lung(1)	2	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCCCCCTCAGGACAGGGAGTC	0.527000													84	469					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152512897	152512897	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:152512897G>A	ENST00000397345.3	-	49	6467	c.6265C>T	c.(6265-6267)Cat>Tat	p.H2089Y	NEB_ENST00000409198.1_Missense_Mutation_p.H2089Y|NEB_ENST00000427231.2_Missense_Mutation_p.H2089Y|NEB_ENST00000603639.1_Missense_Mutation_p.H2089Y|NEB_ENST00000172853.10_Missense_Mutation_p.H2089Y|NEB_ENST00000604864.1_Missense_Mutation_p.H2089Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2089					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCATGGAATGGACTAATTTG	0.423000													47	82					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125506454	125506454	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:125506454G>A	ENST00000241305.3	-	14	2251	c.2097C>T	c.(2095-2097)tcC>tcT	p.S699S	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	699					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGTTCTTGGTGGATGCAGTGA	0.512000													47	160					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135741278	135741278	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:135741278C>T	ENST00000375845.3	-	8	3220	c.3190G>A	c.(3190-3192)Ggt>Agt	p.G1064S	MAP3K19_ENST00000375844.3_Missense_Mutation_p.G246S|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.G1081S|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Splice_Site_p.V246_splice|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G951S	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		AGAATCTCACCCTTGGTCCAT	0.453000													28	49					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70308353	70308353	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:70308353C>T	ENST00000517649.1	-	4	680	c.390G>A	c.(388-390)aaG>aaA	p.K130K	NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Silent_p.K130K|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Silent_p.K130K	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	130					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TACCAACATCCTTGTTCAAAA	0.483000													24	86					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156917997	156917997	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:156917997G>A	ENST00000368194.3	-	24	3168	c.2129C>T	c.(2128-2130)cCa>cTa	p.P710L	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P86L|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P670L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	670					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGAGTGAATGGAGGGGTTGG	0.582000													8	17					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138441	126138441	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:126138441C>T	ENST00000299308.3	+	9	2430	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R320W	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	808						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGGCATAAATCGGGAATATAA	0.483000													30	33					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669352	234669352	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:234669352T>C	ENST00000360418.3	+	1	419	c.419T>C	c.(418-420)cTg>cCg	p.L140P	UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.L140P|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A4_ENST00000373409.3_Intron			P22309	UD11_HUMAN		140					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ATGGCCTCCCTGGCAGAAAGC	0.493000													34	63					0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46447857	46447857	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:46447857G>A	ENST00000262158.2	-	4	1452	c.1166C>T	c.(1165-1167)cCg>cTg	p.P389L	SMAD7_ENST00000589634.1_Missense_Mutation_p.P388L|SMAD7_ENST00000591805.1_Missense_Mutation_p.P174L	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	389	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GCCCGTCCACGGCTGCTGCAT	0.582000													14	9					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106814	90106814	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:90106814G>A	ENST00000405460.2	+	74	15833	c.15737G>A	c.(15736-15738)cGa>cAa	p.R5246Q	GPR98_ENST00000425867.2_Missense_Mutation_p.R907Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5246					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTCTTATCCGAAGAACTGGT	0.418000													22	35					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110884429	110884429	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:110884429G>A	ENST00000265171.5	+	9	1858	c.1413G>A	c.(1411-1413)ctG>ctA	p.L471L	EGF_ENST00000509793.1_Silent_p.L429L|EGF_ENST00000503392.1_Silent_p.L471L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	471	EGF-like 4.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ACCTACAACTGGATGAAAAAA	0.438000													40	63					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76853695	76853695	+	Missense_Mutation	SNP	G	G	A	rs151117827		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:76853695G>A	ENST00000262768.7	-	4	672	c.374C>T	c.(373-375)aCc>aTc	p.T125I	TIMP2_ENST00000585421.1_Missense_Mutation_p.T48I|TIMP2_ENST00000586057.1_Missense_Mutation_p.T48I|TIMP2_ENST00000536189.2_Missense_Mutation_p.T48I	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	125	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GTCACAGAGGGTGATGTGCAT	0.612000													23	28					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60348222	60348222	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:60348222C>T	ENST00000360469.5	+	4	648	c.560C>T	c.(559-561)cCg>cTg	p.P187L	CDH4_ENST00000543233.1_Missense_Mutation_p.P113L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	187	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding	p.P187L(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGCCCTTCCCGCAGCAGCTC	0.701000													4	8					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:31323920C>T	ENST00000269197.5	+	12	4108	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	92					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100898194	100898194	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:100898194C>T	ENST00000369208.3	-	4	1079	c.297G>A	c.(295-297)ggG>ggA	p.G99G	SIM1_ENST00000262901.4_Silent_p.G99G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	99	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACATGATCTTCCCATCTGGGG	0.527000													61	94					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033166	20033166	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:20033166C>T	ENST00000377340.2	-	2	335	c.304G>A	c.(304-306)Gga>Aga	p.G102R	CRNKL1_ENST00000377327.4_Missense_Mutation_p.G90R|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	102					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GCACCGTTTCCATGGTGACCA	0.617000													40	39					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233344377	233344377	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:233344377A>G	ENST00000258229.8	-	13	2984	c.2750T>C	c.(2749-2751)cTt>cCt	p.L917P	PCNXL2_ENST00000488780.2_Missense_Mutation_p.L50P|PCNXL2_ENST00000430153.1_Missense_Mutation_p.L216P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	917						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)				AAGCAAAATAAGGCCACACAG	0.428000													15	23					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230047	38230047	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:38230047T>A	ENST00000339503.4	-	8	1671	c.1170A>T	c.(1168-1170)aaA>aaT	p.K390N	ZNF573_ENST00000392138.1_Missense_Mutation_p.K361N|ZNF573_ENST00000357309.3_Missense_Mutation_p.K360N|ZNF573_ENST00000536220.1_Missense_Mutation_p.K360N|ZNF573_ENST00000590414.2_Missense_Mutation_p.K448N	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TAAAGGTTTTTTTACACTCCT	0.363000													43	69					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926189	70926189	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:70926189C>T	ENST00000603540.1	+	2	2231	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.S658F	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	658	EGF-like.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TATGGGTGGTCCCCACCCTAC	0.512000													27	47					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832084	39832084	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:39832084G>A	ENST00000309060.3	-	4	1888	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	ZHX3_ENST00000560361.1_Silent_p.F491F|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Silent_p.F491F|ZHX3_ENST00000432768.2_Silent_p.F491F|ZHX3_ENST00000540170.1_Silent_p.F491F|ZHX3_ENST00000544979.2_Silent_p.F491F|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	491	Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TAGCATCAAGGAAGGCTTGGG	0.512000													24	37					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859976	144859976	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:144859976G>A	ENST00000369359.4	-	41	6554	c.6516C>T	c.(6514-6516)caC>caT	p.H2172H	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.H1930H|PDE4DIP_ENST00000530740.1_Silent_p.H2121H|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Silent_p.H2036H|PDE4DIP_ENST00000369356.4_Silent_p.H2036H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2036					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGGATTTGGTGACAGGCAT	0.522000			T	PDGFRB	MPD								30	113					0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207559	135207559	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:135207559C>T	ENST00000274513.5	+	5	1003	c.831C>T	c.(829-831)ccC>ccT	p.P277P	SLC25A48_ENST00000433282.2_Intron|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000420621.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						ACTCTGTCCCCGGCCCTCTCC	0.512000													8	22					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10489041	10489041	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:10489041G>A	ENST00000525621.1	-	3	523	c.42C>T	c.(40-42)ccC>ccT	p.P14P	TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Silent_p.P14P|TYK2_ENST00000264818.6_Silent_p.P14P	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	14					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CATCCCCAACGGGCTTACTGC	0.662000													20	36					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7012500	7012500	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:7012500C>G	ENST00000409757.4	+	11	1763	c.1639C>G	c.(1639-1641)Cat>Gat	p.H547D	TBC1D14_ENST00000451522.2_Missense_Mutation_p.H267D|TBC1D14_ENST00000446947.2_Missense_Mutation_p.H194D|TBC1D14_ENST00000448507.1_Missense_Mutation_p.H547D|TBC1D14_ENST00000410031.1_Missense_Mutation_p.H319D	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	547	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TAGAGTGGACCATGGCCTTGT	0.423000													42	80					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565296	48565296	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:48565296G>A	ENST00000354276.3	-	14	1543	c.1216C>T	c.(1216-1218)Ctc>Ttc	p.L406F	CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.L406F|PLA2G4C_ENST00000596510.1_5'UTR|CTD-2265M8.2_ENST00000601950.1_RNA|CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.L406F|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.L416F	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	406	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAGAGGATGAGGTGAACCTCC	0.607000													59	82					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1532542	1532542	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:1532542C>T	ENST00000381623.3	-	2	1405	c.216G>A	c.(214-216)cgG>cgA	p.R72R	SIRPD_ENST00000381621.1_Silent_p.R72R			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	72	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						AGATTAATTTCCGGTTTGGCC	0.463000													25	31					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897197	175897197	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:175897197G>A	ENST00000359240.3	+	5	1191	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	ADAM29_ENST00000404450.4_Missense_Mutation_p.R174Q|ADAM29_ENST00000514159.1_Missense_Mutation_p.R174Q|ADAM29_ENST00000445694.1_Missense_Mutation_p.R174Q	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	174					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATAACATGCCGAATGGAATTT	0.363000													31	45					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9345151	9345151	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:9345151C>T	ENST00000261336.2	-	12	1467	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	PZP_ENST00000381997.2_Missense_Mutation_p.R349K	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CATGGCCTGTCTATTCAGTGT	0.483000													30	57					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911985	23911985	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr13:23911985C>T	ENST00000382298.3	-	10	6618	c.6030G>A	c.(6028-6030)aaG>aaA	p.K2010K	SACS_ENST00000402364.1_Silent_p.K1260K|SACS_ENST00000382292.3_Silent_p.K2010K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2010					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)		TCAAAAATATCTTGAAGGCTG	0.383000													14	18					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7012499	7012499	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:7012499C>T	ENST00000409757.4	+	11	1762	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D	TBC1D14_ENST00000451522.2_Silent_p.D266D|TBC1D14_ENST00000446947.2_Silent_p.D193D|TBC1D14_ENST00000448507.1_Silent_p.D546D|TBC1D14_ENST00000410031.1_Silent_p.D318D	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	546	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TTAGAGTGGACCATGGCCTTG	0.423000													43	79					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48701526	48701526	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:48701526G>A	ENST00000236495.5	+	11	1392	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Missense_Mutation_p.E423K|SLC5A9_ENST00000533824.1_Missense_Mutation_p.E444K	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	423						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GAAGTCAACAGAGCAGGAGCT	0.612000													25	46					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366710	10366710	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:10366710G>A	ENST00000255381.2	-	9	860	c.750C>T	c.(748-750)ttC>ttT	p.F250F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	250	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGATCCTGATGAATTTACCCT	0.333000													20	27					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980337	110980337	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:110980337C>T	ENST00000524391.1	-	4	2515	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	KCNV1_ENST00000297404.1_Missense_Mutation_p.G495R			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	495						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AAATCATCTCCCCCGCTGCTC	0.373000													18	17					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39919411	39919411	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:39919411G>A	ENST00000564288.1	+	88	21552	c.20775G>A	c.(20773-20775)gtG>gtA	p.V6925V	MACF1_ENST00000539005.1_Silent_p.V4736V|MACF1_ENST00000545844.1_Silent_p.V4866V|MACF1_ENST00000289893.4_Silent_p.V5368V|MACF1_ENST00000361689.2_Silent_p.V4866V|MACF1_ENST00000567887.1_Silent_p.V6962V|MACF1_ENST00000372915.3_Silent_p.V6824V|MACF1_ENST00000317713.7_Silent_p.V4866V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6935					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAAGCGAGTGGACGTTAACT	0.423000													60	107					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862857	10862857	+	RNA	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr21:10862857C>T	ENST00000559480.1	+	0	153																		p.Y51*(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TCACCAGCTACTGTATGCACT	0.567000													14	283					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408197	10408197	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:10408197C>T	ENST00000226207.5	-	22	2715	c.2621G>A	c.(2620-2622)aGg>aAg	p.R874K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	874						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCTCTTTCCTTTTTGCCTC	0.433000													33	47					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135768153	135768153	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:135768153G>A	ENST00000367800.4	-	11	1988	c.1772C>T	c.(1771-1773)cCt>cTt	p.P591L	AHI1_ENST00000457866.2_Missense_Mutation_p.P591L|AHI1_ENST00000327035.6_Missense_Mutation_p.P591L	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	591						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CACCTGCCCAGGGAGTCGTTT	0.378000													66	109					0	0	1	0	0
DDIT4L	115265	broad.mit.edu	37	4	101108941	101108941	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:101108941G>A	ENST00000273990.2	-	3	689	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	159					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GAGGAGAAGCGACCTCTACTA	0.428000													29	65					0	0	1	0	0
CTSF	8722	broad.mit.edu	37	11	66333814	66333814	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:66333814G>A	ENST00000310325.5	-	5	778	c.669C>T	c.(667-669)gcC>gcT	p.A223A	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	223					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CACGGTCCAGGGCCTGGATCT	0.572000													14	20					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95013586	95013586	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:95013586C>T	ENST00000357742.4	+	20	2385	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	MCTP2_ENST00000451018.3_Silent_p.F740F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	795					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CGGTCCCCTTCCTTTCATCTC	0.408000													58	69					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157927	154157927	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:154157927C>T	ENST00000360256.4	-	14	4338	c.4138G>A	c.(4138-4140)Gag>Aag	p.E1380K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1380	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCCCTTTCTCCTTCTCATTG	0.443000													76	114					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147684633	147684633	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:147684633C>T	ENST00000367481.3	+	22	2708	c.2600C>T	c.(2599-2601)cCc>cTc	p.P867L	STXBP5_ENST00000321680.6_Missense_Mutation_p.P903L|STXBP5_ENST00000179882.6_Missense_Mutation_p.P558L|STXBP5_ENST00000367480.3_Missense_Mutation_p.P850L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	903					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCAGTATCCCCCTCCTCTTCT	0.428000													27	29					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541122	28541122	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:28541122G>A	ENST00000452236.2	-	4	3161	c.2544C>T	c.(2542-2544)atC>atT	p.I848I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	848					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.I848I(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aaacttctttgatgcagtctt	0.433000													52	85					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351902	132351902	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:132351902G>A	ENST00000310125.4	-	1	474	c.386C>T	c.(385-387)tCc>tTc	p.S129F		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	129						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTCCTGGCAGGAAGTGGTCCC	0.567000													37	78					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57399048	57399048	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:57399048G>A	ENST00000543257.1	-	11	1922	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	C8B_ENST00000535057.1_Silent_p.H442H|C8B_ENST00000371237.4_Silent_p.H504H	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	504	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AGGGAGCACAGTGGCAGGAAC	0.537000													29	47					0	0	1	0	0
ABHD17B	51104	broad.mit.edu	37	9	74485004	74485004	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:74485004G>A	ENST00000333421.6	-	3	753	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ABHD17B_ENST00000377041.2_Silent_p.F214F	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		CTTACTTTGGGAATGCATCAA	0.368000													27	10					0	0	1	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090064	22090064	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:22090064G>A	ENST00000542354.1	+	0	74																											CAGATGTGGGGAGCTTTCCTT	0.458000													16	35					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16899909	16899909	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:16899909G>A	ENST00000524140.2	+	13	3266	c.2848G>A	c.(2848-2850)Gat>Aat	p.D950N	NWD1_ENST00000523826.1_Missense_Mutation_p.D744N|NWD1_ENST00000379808.3_Missense_Mutation_p.D950N|NWD1_ENST00000339803.6_Missense_Mutation_p.D815N|NWD1_ENST00000549814.1_Missense_Mutation_p.D950N|NWD1_ENST00000552788.1_Missense_Mutation_p.D950N	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	950							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACCATTTGGGATGGAGGCTC	0.458000													21	29					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14767830	14767830	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:14767830C>T	ENST00000261170.3	-	26	3154	c.3018G>A	c.(3016-3018)caG>caA	p.Q1006Q	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1006					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GGTTGAATTTCTGGTCCTTCA	0.478000													5	6					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071642	9071642	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:9071642C>T	ENST00000397910.4	-	3	16007	c.15804G>A	c.(15802-15804)acG>acA	p.T5268T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5270	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTGGTGATCGTCATTTCTG	0.517000													32	44					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189962046	189962046	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:189962046C>T	ENST00000374866.3	-	6	687	c.413G>A	c.(412-414)gGa>gAa	p.G138E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	138					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCTGTGATCCTGGAGGTCC	0.408000													22	30					0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43908189	43908189	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:43908189C>T	ENST00000302708.4	+	5	663	c.252C>T	c.(250-252)ccC>ccT	p.P84P	ALKBH3_ENST00000378840.4_Silent_p.P83P|ALKBH3_ENST00000532410.1_3'UTR	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	84					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GCCTGTCACCCACAGGTGTAT	0.393000								Direct reversal of damage					28	25					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1615573	1615573	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:1615573G>A	ENST00000395423.3	-	14	1572	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	TCF3_ENST00000453954.2_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000262965.5_Intron			P15923	TFE2_HUMAN	transcription factor 3	533					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGGGGGAAGAGCGTGGGGC	0.706000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								17	21					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536554	4536554	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:4536554G>A	ENST00000570836.1	-	11	1401	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	ALOX15_ENST00000545513.1_Silent_p.F457F|ALOX15_ENST00000574640.1_Silent_p.F396F|ALOX15_ENST00000293761.3_Silent_p.F435F			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	435	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	TGTAGGTTAGGAAGGCTCCAG	0.607000													16	38					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171242778	171242778	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:171242778G>A	ENST00000334231.6	+	13	1397	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	MYO3B_ENST00000408978.4_Missense_Mutation_p.G457E|MYO3B_ENST00000409044.3_Missense_Mutation_p.G457E|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	457	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACTTTCTTGGGAAAGGTATTG	0.428000													15	23					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220805572	220805572	+	Missense_Mutation	SNP	G	G	A	rs35566206		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:220805572G>A	ENST00000402574.1	+	11	1636	c.634G>A	c.(634-636)Gat>Aat	p.D212N	MARK1_ENST00000366918.4_Missense_Mutation_p.D325N|MARK1_ENST00000366917.4_Missense_Mutation_p.D347N	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	347	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTTTGCACGAGATGAAATAAA	0.308000													46	69					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28251801	28251801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:28251801C>T	ENST00000405948.2	+	2	631	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	PGBD1_ENST00000259883.3_Nonsense_Mutation_p.Q71*	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	71	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACTTTGTCATCAATGGCTGAG	0.577000													31	44					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677213	37677213	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:37677213G>A	ENST00000532828.2	-	5	1477	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S354L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATATATACGATTTTTCTCC	0.423000													30	53					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11415477	11415477	+	Missense_Mutation	SNP	T	T	C	rs111982490		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:11415477T>C	ENST00000259089.4	+	10	1551	c.959T>C	c.(958-960)cTg>cCg	p.L320P	BLK_ENST00000529894.1_Missense_Mutation_p.L249P|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	320	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TTAGGATGCCTGCTGGATTTC	0.562000													22	44					0	0	1	0	0
BAG5	9529	broad.mit.edu	37	14	104026328	104026328	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:104026328C>T	ENST00000445922.2	-	2	1420	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N	BAG5_ENST00000299204.4_Missense_Mutation_p.D392N|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.D433N	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	392	BAG 5.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TAGTTCTTATCGGTTCGATTT	0.512000													39	55					0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178612	62178612	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:62178612C>T	ENST00000217188.1	-	1	245	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	69	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACACTCAGCTCCCCGCCACAC	0.697000													7	8					0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108871477	108871477	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:108871477C>T	ENST00000332884.6	+	5	1808	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Silent_p.F302F	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	511					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TGCAGAGTTTCGCATTTGCTT	0.393000													19	51					0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100523249	100523249	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr13:100523249C>T	ENST00000376355.3	+	6	789	c.758C>T	c.(757-759)tCc>tTc	p.S253F	CLYBL_ENST00000339105.4_Missense_Mutation_p.S287F|CLYBL_ENST00000376354.1_Missense_Mutation_p.S253F|CLYBL_ENST00000376360.1_Missense_Mutation_p.S287F|CLYBL_ENST00000444838.2_Missense_Mutation_p.S253F	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	287					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTCTCCTTCCCCTGAAAAA	0.408000													37	26					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	186998199	186998199	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:186998199C>T	ENST00000296795.2	+	2	530	c.426C>T	c.(424-426)ccC>ccT	p.P142P		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	142					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAAATAATCCCTTTGTCAAGC	0.328000													10	18					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7760684	7760684	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:7760684C>T	ENST00000340209.4	+	13	1443	c.1146C>T	c.(1144-1146)ctC>ctT	p.L382L	RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000553186.1_Silent_p.L350L|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000547338.1_Silent_p.L377L|RBFOX1_ENST00000311745.5_Silent_p.L398L|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000550418.1_Silent_p.L377L			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	377					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATGTGGGTCTCGTTCTTTCTT	0.418000													19	71					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111499	142111499	+	RNA	SNP	G	G	A	rs361356		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:142111499G>A	ENST00000390378.1	-	0	236																											ATTGATCAGGGAAGTTTCCTC	0.517000													38	67					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157771481	157771481	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:157771481C>T	ENST00000502773.1	-	2	696	c.206G>A	c.(205-207)aGa>aAa	p.R69K	PDGFC_ENST00000422544.2_Missense_Mutation_p.R69K|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	69	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GACCGTATTTCTTGGATAAGT	0.383000													14	28					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55682013	55682013	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:55682013C>T	ENST00000344514.1	-	1	45	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGGTAATTCCCAAGAGAAAA	0.343000													15	33					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113545893	113545893	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:113545893G>A	ENST00000546530.1	-	15	1797	c.1512C>T	c.(1510-1512)gcC>gcT	p.A504A	RASAL1_ENST00000446861.3_Silent_p.A503A|RASAL1_ENST00000548055.1_Silent_p.A503A|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Silent_p.A503A	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	503	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTGGCACCTTGGCAAGCAACA	0.567000													12	10					0	0	1	0	0
KRT16P3	644945	broad.mit.edu	37	17	20406444	20406444	+	RNA	SNP	C	C	T	rs78306900		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:20406444C>T	ENST00000580113.1	-	0	622																											CCTTCCATCTCCATCTCCAGG	0.642000													12	47					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433302	104433302	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:104433302G>A	ENST00000361820.3	-	3	1992	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	464					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GATTCCAGATGAAAAAGTTGT	0.493000													69	42					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11793458	11793458	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:11793458G>A	ENST00000344893.3	+	0	1660					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GATGTGATGTGGGAAACCTTC	0.463000													23	65					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080066	5080066	+	Silent	SNP	G	G	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:5080066G>C	ENST00000321522.2	-	1	791	c.792C>G	c.(790-792)cgC>cgG	p.R264R		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	264			R -> C (in dbSNP:rs2500052).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCGGCCAAAGCGATGAGTCA	0.473000													30	42					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650546	55650546	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:55650546C>T	ENST00000339140.3	+	1	714	c.402C>T	c.(400-402)tcC>tcT	p.S134S		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	134					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGCCATCTTCCTCCAGTGAGC	0.512000													21	39					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150386762	150386762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:150386762C>A	ENST00000367339.1	-	3	428	c.400G>T	c.(400-402)Gga>Tga	p.G134*	ULBP3_ENST00000438272.2_Nonsense_Mutation_p.G134*			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	134	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CGGATGTATCCATCGGCTTCA	0.517000													44	61					1.41504e-22	1.43793e-22	1	1	0
CNTN4	152330	broad.mit.edu	37	3	3084079	3084079	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:3084079G>A	ENST00000397461.1	+	20	2868	c.2484G>A	c.(2482-2484)aaG>aaA	p.K828K	CNTN4_ENST00000427331.1_Silent_p.K828K|CNTN4_ENST00000418658.1_Silent_p.K828K|CNTN4_ENST00000448906.2_Silent_p.K500K|CNTN4_ENST00000358480.3_Silent_p.K609K|CNTN4_ENST00000397459.2_Silent_p.K500K|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	828	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CACTGGAGAAGAATAGAGGAC	0.458000													15	48					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99695952	99695952	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:99695952G>A	ENST00000370597.3	-	3	751	c.396C>T	c.(394-396)ttC>ttT	p.F132F	CRTAC1_ENST00000298819.4_Silent_p.F132F|CRTAC1_ENST00000370591.2_Silent_p.F132F	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	132						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TGGTGTTGAGGAAGTAGATCT	0.637000													20	22					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144837380	144837380	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:144837380G>A	ENST00000367545.3	+	37	5260	c.5260G>A	c.(5260-5262)Gaa>Aaa	p.E1754K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1754	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATTGCTCAGGAACCATTATA	0.333000													18	29					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38486011	38486011	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:38486011C>T	ENST00000263409.4	-	17	2569	c.2407G>A	c.(2407-2409)Ggt>Agt	p.G803S	LIFR_ENST00000453190.2_Missense_Mutation_p.G803S	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	803	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTTGTTTTACCTTGAAGATCA	0.388000			T	PLAG1	salivary adenoma								13	27					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1444161	1444161	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:1444161A>T	ENST00000446702.2	+	22	3604	c.2977A>T	c.(2977-2979)Aaa>Taa	p.K993*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.K993*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.K921*			Q9UQ52	CNTN6_HUMAN	contactin 6	993					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAGGATTCCAAAAATGTCAAG	0.408000													8	25					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087529	47087529	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:47087529A>C	ENST00000374312.1	+	3	1165	c.746A>C	c.(745-747)cAc>cCc	p.H249P	NPY4R_ENST00000395716.1_Missense_Mutation_p.H249P	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CGCGTGTTTCACAAGGGCACC	0.597000													18	162					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762608	130762608	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:130762608G>A	ENST00000392429.1	+	2	3419	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	TMEM200A_ENST00000545622.1_Silent_p.R347R|TMEM200A_ENST00000296978.3_Silent_p.R347R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	347						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGCTACCAAGGAATAATTCCA	0.517000													27	38					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616218	79616218	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:79616218G>A	ENST00000296739.4	+	1	429	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCAAGTTACAGAACAACAGAC	0.388000													32	59					0	0	1	0	0
NANOGP1	404635	broad.mit.edu	37	12	8051572	8051572	+	RNA	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:8051572C>T	ENST00000607111.1	+	0	792																				kidney(1)|lung(4)|prostate(1)	6						CTCCTCCCATCCCTCATAGGA	0.463000													23	62					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304612	115304612	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:115304612C>T	ENST00000371906.4	+	3	1269	c.1079C>T	c.(1078-1080)aCc>aTc	p.T360I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	360					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						GAAATGGAGACCTTTGTGTCT	0.393000													38	62					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755738	10755738	+	Silent	SNP	T	T	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:10755738T>C	ENST00000416569.2	-	3	1676	c.1650A>G	c.(1648-1650)caA>caG	p.Q550Q	XKR6_ENST00000304437.2_Silent_p.Q271Q	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	550						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GATCCTCCTGTTGTTCCGTTA	0.637000													17	26					0	0	1	0	0
INTS4P1	285905	broad.mit.edu	37	7	64639780	64639780	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:64639780G>A	ENST00000587624.1	+	0	663																											TGAAATTGAGGAAGTACGTCT	0.483000													9	40					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25472080	25472080	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:25472080G>A	ENST00000453082.2	+	0	1122					NR_003343.1																						GACCCCGGAGGAAAATTTGTG	0.622000													5	7					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9680519	9680519	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:9680519G>A	ENST00000330255.4	-	4	577	c.565C>T	c.(565-567)Cgt>Tgt	p.R189C	DHRS7C_ENST00000571134.1_Missense_Mutation_p.R188C	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	189						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CAAGTCGTACGGAACGGGATT	0.428000													9	12					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50963312	50963312	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:50963312C>T	ENST00000357701.5	+	24	2858	c.2807C>T	c.(2806-2808)cCc>cTc	p.P936L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	936	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCTGGGCCCCCCATAAACGTG	0.592000													3	4					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101323826	101323826	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:101323826C>T	ENST00000344327.3	-	13	3080	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	TRPC6_ENST00000348423.4_Missense_Mutation_p.E770K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E808K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E831K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	886					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGCTTAATTTCCTTCAGTTCC	0.398000													21	8					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349733	65349733	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:65349733C>T	ENST00000284037.5	+	21	2976	c.2587C>T	c.(2587-2589)Cca>Tca	p.P863S	ERBB2IP_ENST00000380938.2_Missense_Mutation_p.P863S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.P863S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.P863S|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.P863S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.P863S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.P863S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.P859S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.P863S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	863					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GAAAAGTGGTCCAGTTGGATC	0.408000													16	34					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180914514	180914514	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:180914514C>T	ENST00000367588.4	+	9	3418	c.3363C>T	c.(3361-3363)ggC>ggT	p.G1121G	RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_Silent_p.G742G|KIAA1614_ENST00000461346.1_3'UTR	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1121										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCACCGTGGGCCGCCTGGTGG	0.692000													9	37					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21065780	21065780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:21065780G>A	ENST00000261383.3	-	28	3999	c.4000C>T	c.(4000-4002)Cga>Tga	p.R1334*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.R1334*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1334	Stem (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)		AGAGTGAGTCGAGCTCCACTG	0.552000													10	35					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124165040	124165040	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:124165040C>T	ENST00000360013.3	+	20	3467	c.3340C>T	c.(3340-3342)Cgc>Tgc	p.R1114C	KALRN_ENST00000460856.1_Missense_Mutation_p.R1105C|KALRN_ENST00000240874.3_Missense_Mutation_p.R1114C	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1114					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGGGAGAATCGCGTGCTGCA	0.557000													21	24					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257978	18257978	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:18257978G>A	ENST00000286479.3	+	2	572	c.465G>A	c.(463-465)gaG>gaA	p.E155E	NAT2_ENST00000520116.1_Silent_p.E25E	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	155					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TGACAGAAGAGAGAGGAATCT	0.438000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				30	29					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244525	141244525	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:141244525G>A	ENST00000287008.3	-	3	1518	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	PCDH1_ENST00000456271.1_Silent_p.F445F|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Silent_p.F457F|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Silent_p.F435F	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	457	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TAGTCTGCAGGAAATACTTCT	0.552000													66	27					0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61648537	61648537	+	Splice_Site	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:61648537T>A	ENST00000381103.2	+	6	882	c.397_splice	c.e6+1	p.S133_splice	KIF2A_ENST00000407818.3_Splice_Site_p.S153_splice|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000401507.3_Splice_Site_p.S153_splice|KIF2A_ENST00000506857.1_Intron	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	153	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGGACCCCCTTGTATGTAAAT	0.373000													3	19					0	0	1	0	0
LYPD5	284348	broad.mit.edu	37	19	44303919	44303919	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:44303919C>T	ENST00000377950.3	-	2	212	c.132G>A	c.(130-132)atG>atA	p.M44I	LYPD5_ENST00000414615.2_Start_Codon_SNP_p.M1I|LYPD5_ENST00000594013.1_Start_Codon_SNP_p.M1I	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	44						anchored to membrane|plasma membrane				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				TGGGCAGCTTCATGGCCCTGA	0.602000													12	30					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	440739	440739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:440739G>A	ENST00000256509.2	+	26	3935	c.3293G>A	c.(3292-3294)tGg>tAg	p.W1098*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.W1082*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1082					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACTCAAGGCTGGTTTATTGGA	0.373000													46	82					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121724150	121724150	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:121724150C>T	ENST00000273691.3	-	3	425	c.320G>A	c.(319-321)gGg>gAg	p.G107E	ILDR1_ENST00000393631.1_Missense_Mutation_p.G107E|ILDR1_ENST00000462014.1_Missense_Mutation_p.G119E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.G107E	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	107	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTCATTCTGCCCCCGCCGCTG	0.632000													8	23					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103162557	103162557	+	Missense_Mutation	SNP	G	G	A	rs114620403	byFrequency	TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:103162557G>A	ENST00000424685.2	-	48	7739	c.7580C>T	c.(7579-7581)tCc>tTc	p.S2527F	RELN_ENST00000343529.5_Missense_Mutation_p.S2527F|RELN_ENST00000428762.1_Missense_Mutation_p.S2527F			P78509	RELN_HUMAN	reelin	2527					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTCTGACTGGATGGAGCTCG	0.542000													23	46					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166172139	166172139	+	Silent	SNP	T	T	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:166172139T>G	ENST00000375437.2	+	11	1832	c.1542T>G	c.(1540-1542)tcT>tcG	p.S514S	SCN2A_ENST00000283256.6_Silent_p.S514S|SCN2A_ENST00000375427.2_Silent_p.S514S|SCN2A_ENST00000357398.3_Silent_p.S514S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	514					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	aagaacagtctggagaagaag	0.378000													13	40					0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23778013	23778013	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr13:23778013G>A	ENST00000218867.3	+	2	304	c.180G>A	c.(178-180)gtG>gtA	p.V60V	SGCG_ENST00000537476.1_Silent_p.V60V|SGCG_ENST00000545013.1_Silent_p.V60V	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	60					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TTCTTAAAGTGATGTGGTTTT	0.353000													18	48					0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066370	106066370	+	RNA	SNP	T	T	C	rs1134593		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:106066370T>C	ENST00000412518.1	-	0	6				IGHE_ENST00000577108.1_RNA|IGHE_ENST00000576077.1_RNA																							CACAGCTGGATGGAGCCCTGG	0.602000													7	77					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150200	51150200	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:51150200G>A	ENST00000342995.2	+	1	434	c.332G>A	c.(331-333)gGg>gAg	p.G111E						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GAAGTTTTTGGGTGTGTGGTG	0.662000													9	12					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118314974	118314974	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:118314974A>T	ENST00000369221.2	+	8	794	c.766A>T	c.(766-768)Aag>Tag	p.K256*		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	256					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGGATGTAAAAAGAACATTCT	0.408000													48	49					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43373139	43373139	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:43373139C>T	ENST00000244296.2	-	4	894	c.757G>A	c.(757-759)Gag>Aag	p.E253K	PSG1_ENST00000595356.1_Missense_Mutation_p.E253K|PSG1_ENST00000595124.1_Missense_Mutation_p.E160K|PSG1_ENST00000312439.6_Missense_Mutation_p.E253K|PSG1_ENST00000436291.2_Missense_Mutation_p.E253K|PSG1_ENST00000403380.3_Missense_Mutation_p.E160K	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TCCTTATTCTCCCTGGGGTTT	0.488000													101	163					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3823293	3823293	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:3823293G>A	ENST00000262961.4	-	8	1332	c.1322C>T	c.(1321-1323)cCc>cTc	p.P441L		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	441						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCAGCCCGCGGGAGCTTCCTT	0.637000													55	76					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33330469	33330469	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:33330469G>A	ENST00000374796.2	-	12	6161	c.3591C>T	c.(3589-3591)ttC>ttT	p.F1197F	NCOA6_ENST00000359003.2_Silent_p.F1197F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1197	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCACATTTGGGAAGTGGTGGC	0.582000													54	87					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922389	24922389	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:24922389C>T	ENST00000329468.2	+	1	1849	c.1375C>T	c.(1375-1377)Cct>Tct	p.P459S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ATTCACAATCCCTAACTCTCC	0.498000													61	88					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054661	29054661	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:29054661C>T	ENST00000377173.2	-	1	429	c.365G>A	c.(364-366)aGa>aAa	p.R122K		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGCCACATATCTGTCAAAGGA	0.493000													33	62					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38904752	38904752	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:38904752C>T	ENST00000450244.1	-	24	4188	c.3990G>A	c.(3988-3990)aaG>aaA	p.K1330K	SCN11A_ENST00000456224.3_Silent_p.K1292K|SCN11A_ENST00000302328.3_Silent_p.K1330K|SCN11A_ENST00000444237.2_Silent_p.K1330K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1330					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TATAGTATTTCTTCTGTTCTT	0.323000													18	24					0	0	1	0	0
ALDH3B1	221	broad.mit.edu	37	11	67786664	67786664	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:67786664G>A	ENST00000539229.1	+	6	533	c.417G>A	c.(415-417)tcG>tcA	p.S139S	ALDH3B1_ENST00000342456.6_Silent_p.S103S|ALDH3B1_ENST00000316367.6_Silent_p.S139S|ALDH3B1_ENST00000007633.8_Silent_p.S139S|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	140					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	TGAAGCCATCGGAGATTAGCA	0.627000													9	15					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41016329	41016329	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:41016329G>A	ENST00000295974.8	-	6	735	c.106C>T	c.(106-108)Cca>Tca	p.P36S	APBB2_ENST00000506352.1_Missense_Mutation_p.P36S|APBB2_ENST00000508593.1_Missense_Mutation_p.P36S|APBB2_ENST00000513140.1_Missense_Mutation_p.P36S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	36					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.P36T(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGGGTGTTTGGTGGTGTGGCT	0.483000													30	40					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748331	111748331	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:111748331G>A	ENST00000261726.6	+	15	1899	c.1745G>A	c.(1744-1746)gGg>gAg	p.G582E		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	582						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TACGTGCTGGGGCTGTCGCAG	0.617000													47	111					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180772749	180772749	+	Splice_Site	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:180772749T>A	ENST00000367590.4	+	4	645		c.e4+2		XPR1_ENST00000367589.3_Splice_Site	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1							integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AACTATCAGGTACTTAGATTC	0.383000													29	25					0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775147	234775147	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:234775147G>A	ENST00000438684.1	-	0	967					NR_024322.1																						AGGTGAAGATGATCTGCTATG	0.522000													19	45					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29055987	29055987	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:29055987A>T	ENST00000257189.4	+	16	2847	c.2764A>T	c.(2764-2766)Atc>Ttc	p.I922F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	922					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCTGTTTCCATCCCTGACCC	0.507000													21	61					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205986450	205986450	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:205986450G>A	ENST00000406610.2	+	8	1149	c.942G>A	c.(940-942)ttG>ttA	p.L314L	PARD3B_ENST00000349953.3_Silent_p.L314L|PARD3B_ENST00000462231.1_Silent_p.L314L|PARD3B_ENST00000358768.2_Silent_p.L314L|PARD3B_ENST00000351153.1_Silent_p.L314L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	314					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ATGGCGTTTTGAAAACCAAAG	0.458000													25	45					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139144933	139144933	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:139144933T>C	ENST00000395297.1	-	20	4294	c.4124A>G	c.(4123-4125)aAc>aGc	p.N1375S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1375										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)			GATCAGGGTGTTGGCAGTGTT	0.527000										HNSCC(54;0.14)			119	221					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227872981	227872981	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:227872981G>A	ENST00000396625.3	-	47	4769	c.4562C>T	c.(4561-4563)cCc>cTc	p.P1521L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1518L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1521	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTAGGCAAAGGGCAGCGTGCT	0.592000													18	30					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64643925	64643925	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:64643925C>T	ENST00000371079.1	+	9	2576	c.2201C>T	c.(2200-2202)tCt>tTt	p.S734F	ROR1_ENST00000545203.1_Missense_Mutation_p.S185F	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	734	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAGATTCCTTCTAGGAGACCA	0.502000													24	25					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405226	68405226	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:68405226C>T	ENST00000219334.5	-	3	1462	c.859G>A	c.(859-861)Ggg>Agg	p.G287R	SMPD3_ENST00000568373.1_Missense_Mutation_p.G287R|SMPD3_ENST00000563226.1_Missense_Mutation_p.G287R	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	287					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCTGAATCCCCGTCCTGCTGA	0.711000													10	24					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164764781	164764781	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:164764781G>A	ENST00000264382.3	-	16	1797	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	579	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCTTATTAGGAAAAACTTTT	0.303000										HNSCC(35;0.089)			18	12					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31600686	31600686	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:31600686C>A	ENST00000170150.3	+	4	476	c.281C>A	c.(280-282)gCa>gAa	p.A94E		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	94						extracellular region	lipid binding										CTGCTGGCAGCAGCTAATTTT	0.542000													57	96					3.07002e-29	3.12888e-29	1	1	0
EHMT2	10919	broad.mit.edu	37	6	31855424	31855424	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:31855424G>A	ENST00000395728.3	-	14	2111	c.2112C>T	c.(2110-2112)ctC>ctT	p.L704L	EHMT2_ENST00000375528.4_Silent_p.L670L|EHMT2_ENST00000375530.4_Silent_p.L613L|EHMT2_ENST00000375537.4_Silent_p.L647L|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	647					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGTGGAAACGGAGCTTCTTCC	0.617000													35	60					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701646	103701646	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr13:103701646G>A	ENST00000245312.3	-	5	1508	c.912C>T	c.(910-912)ttC>ttT	p.F304F		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	304					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TACATCCTAAGAATATTGCGG	0.438000													45	67					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544534	53544534	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:53544534G>A	ENST00000371500.3	+	10	1780	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	PODN_ENST00000312553.5_Missense_Mutation_p.R499Q|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.R357Q	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	451					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCTGCCTCGAAATGTCCAT	0.672000													16	38					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87066160	87066160	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:87066160G>A	ENST00000441037.2	+	18	2632	c.2537G>A	c.(2536-2538)cGa>cAa	p.R846Q	AGBL1_ENST00000421325.2_Missense_Mutation_p.R846Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R577Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	846					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGCATTGGCCGAAGTCCCGTG	0.522000													76	84					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627328	38627328	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:38627328T>G	ENST00000413689.1	-	16	2834	c.2641A>C	c.(2641-2643)Atg>Ctg	p.M881L	SCN5A_ENST00000423572.2_Missense_Mutation_p.M881L|SCN5A_ENST00000455624.2_Missense_Mutation_p.M881L|SCN5A_ENST00000451551.2_Missense_Mutation_p.M881L|SCN5A_ENST00000450102.2_Missense_Mutation_p.M881L|SCN5A_ENST00000449557.2_Missense_Mutation_p.M881L|SCN5A_ENST00000443581.1_Missense_Mutation_p.M881L|SCN5A_ENST00000425664.1_Missense_Mutation_p.M881L|SCN5A_ENST00000414099.2_Missense_Mutation_p.M881L|SCN5A_ENST00000333535.4_Missense_Mutation_p.M881L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	881					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AAGTCCATCATGTGCCAGCGA	0.552000													4	158					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262291	45262291	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:45262291G>A	ENST00000303230.4	-	8	2462	c.2405C>T	c.(2404-2406)tCc>tTc	p.S802F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	802						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGAGGTCTGGAAATCAGAGT	0.657000													26	36					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782145	44782145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:44782145G>A	ENST00000266534.3	+	8	1362	c.1235G>A	c.(1234-1236)tGg>tAg	p.W412*	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Nonsense_Mutation_p.W308*|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	412						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TTCTTTATTTGGTTCTTTGGA	0.408000													21	68					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25556980	25556980	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:25556980G>A	ENST00000329474.6	+	29	3012	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	882					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGAATCCTTAGAGATCGAGCT	0.468000													10	20					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117228699	117228699	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:117228699G>A	ENST00000355044.3	+	24	3640	c.3514G>A	c.(3514-3516)Gaa>Aaa	p.E1172K	ATRNL1_ENST00000423111.2_Missense_Mutation_p.E223K|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1172						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATATCTGGGGAAGAGACTTC	0.224000													8	19					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891305	44891305	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:44891305C>T	ENST00000330997.4	-	4	1166	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	ZNF285_ENST00000591679.1_Missense_Mutation_p.G375R|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G368R	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGCTTTTTCCCTGTGTGTACT	0.473000													20	49					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36766833	36766833	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:36766833G>A	ENST00000399881.3	+	21	2148	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	704						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)		CCTTAGAAACGAACTGGCAAG	0.468000													69	143					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32743947	32743947	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:32743947C>T	ENST00000421745.2	+	57	11691	c.11557C>T	c.(11557-11559)Cac>Tac	p.H3853Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3853					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)					TGGAGCAGGCCACAAATTCCG	0.378000													22	25					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587626	42587626	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:42587626G>A	ENST00000289957.2	+	5	1304	c.1176G>A	c.(1174-1176)ttG>ttA	p.L392L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	392					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTGCTTTTTTGGAAAAAGCTG	0.388000													14	23					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175326	133175326	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:133175326C>T	ENST00000329321.3	+	1	1180	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	237						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTGCTCTCCGTAGCCTTCA	0.607000													25	34					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159856453	159856453	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:159856453G>A	ENST00000426543.2	-	6	815	c.360C>T	c.(358-360)gcC>gcT	p.A120A	CCDC19_ENST00000368099.4_Silent_p.A205A|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	205						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CATCCCGGATGGCATGGCACT	0.468000													72	124					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046879	76046879	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:76046879C>T	ENST00000335749.4	+	3	2305	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	TNRC6C_ENST00000588847.1_Missense_Mutation_p.S579F|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S579F|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S579F|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S579F|TNRC6C_ENST00000588061.1_Missense_Mutation_p.S579F	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	579	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGCCCAAATCCCAACACTGG	0.572000													31	46					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49400749	49400749	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:49400749C>T	ENST00000374201.3	-	16	2445	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R	FRMPD2_ENST00000305531.3_Missense_Mutation_p.G690R|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G683R	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	715					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTTCTGCTCCAGCCTCCTTG	0.517000													11	28					0	0	1	0	0
NEK2	4751	broad.mit.edu	37	1	211842668	211842668	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:211842668G>A	ENST00000366999.4	-	6	910	c.772C>T	c.(772-774)Cat>Tat	p.H258Y	NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Missense_Mutation_p.H258Y|NEK2_ENST00000540251.1_Missense_Mutation_p.H215Y	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	258	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		GAAGGTCGATGGTAATCCTGG	0.378000													34	31					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743848	31743848	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:31743848C>T	ENST00000375686.3	-	3	643	c.406G>A	c.(406-408)Gga>Aga	p.G136R	VWA7_ENST00000467576.1_Intron|VWA7_ENST00000447450.1_Missense_Mutation_p.G136R|VWA7_ENST00000375688.4_Missense_Mutation_p.G136R	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	136						extracellular region											CGCGCGCGTCCCTGACCCAGT	0.657000													65	94					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681990	55681990	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:55681990C>T	ENST00000344514.1	-	1	68	c.69G>A	c.(67-69)atG>atA	p.M23I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGTCACTTTCATCTCTGGGT	0.348000													20	28					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67081799	67081799	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:67081799C>T	ENST00000284425.2	-	31	4170	c.3996G>A	c.(3994-3996)atG>atA	p.M1332I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1332	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCCCAGATATCATTCTAATAG	0.363000													14	18					0	0	1	0	0
TMEM161A	54929	broad.mit.edu	37	19	19232200	19232200	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:19232200G>A	ENST00000450333.2	-	7	559	c.522C>T	c.(520-522)ccC>ccT	p.P174P	TMEM161A_ENST00000162044.9_Silent_p.P277P|TMEM161A_ENST00000587583.2_Silent_p.P252P	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	277					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GGATGAACAGGGGAGACAGGA	0.632000													14	14					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47266709	47266709	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:47266709G>A	ENST00000396220.1	-	24	2875	c.2853C>T	c.(2851-2853)ccC>ccT	p.P951P	PREX1_ENST00000371941.3_Silent_p.P951P			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	951					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTTGTTTGAAGGGTGGGCTGA	0.577000													47	70					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535833	69535833	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:69535833G>A	ENST00000338206.5	-	1	513	c.504C>T	c.(502-504)ccC>ccT	p.P168P		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	168					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TGTACAGAAAGGGTATGTTAA	0.408000													38	264					0	0	1	0	0
MAGED2	10916	broad.mit.edu	37	X	54836575	54836575	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:54836575G>A	ENST00000375068.1	+	3	699	c.466G>A	c.(466-468)Gag>Aag	p.E156K	MAGED2_ENST00000343474.6_Missense_Mutation_p.E138K|MAGED2_ENST00000218439.4_Missense_Mutation_p.E156K|MAGED2_ENST00000375058.1_Missense_Mutation_p.E156K|MAGED2_ENST00000375053.2_Missense_Mutation_p.E156K|MAGED2_ENST00000375062.4_Missense_Mutation_p.E118K|MAGED2_ENST00000396224.1_Missense_Mutation_p.E156K|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375060.1_Missense_Mutation_p.E118K|MAGED2_ENST00000347546.3_Missense_Mutation_p.E100K			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	156										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ACCTGAGCCTGAGAGTGCAGC	0.547000													13	12					0	0	1	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667663	106667663	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:106667663G>A	ENST00000390606.2	-	0	330																											GTTGTCTCTGGAGATGGTGAA	0.542000													119	198					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733458	56733458	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:56733458C>T	ENST00000587340.1	-	7	1672	c.977G>A	c.(976-978)gGa>gAa	p.G326E	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.G209E|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.G180E|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.G326E|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.G325E			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	326					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCCAGCTTGTCCCGGGGATTC	0.557000													14	56					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861122	55861122	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:55861122C>T	ENST00000302124.2	+	1	370	c.339C>T	c.(337-339)ttC>ttT	p.F113F	OR8I2_ENST00000560768.1_Silent_p.F113F			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGAGTGTTTCCTTCTGGGAT	0.428000													52	68					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53566684	53566684	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:53566684G>A	ENST00000342160.3	-	74	12023	c.11566C>T	c.(11566-11568)Ctg>Ttg	p.L3856L	HUWE1_ENST00000262854.6_Silent_p.L3856L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3856					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGTCCCACAGCTCGTCCAAA	0.572000													15	45					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120998648	120998648	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:120998648C>T	ENST00000325954.4	+	7	1548	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	RNF10_ENST00000413266.2_Missense_Mutation_p.P363S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	363					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAGCACACTCCCGAGTCCTG	0.532000													19	28					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147488359	147488359	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:147488359G>A	ENST00000359874.3	+	18	1724	c.1651G>A	c.(1651-1653)Ggg>Agg	p.G551R	SPINK5_ENST00000256084.7_Missense_Mutation_p.G551R|SPINK5_ENST00000398454.1_Missense_Mutation_p.G551R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	551	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			agaagaaaaagggaaagtcga	0.363000													33	10					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200869275	200869275	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:200869275G>A	ENST00000367342.4	+	4	679	c.479G>A	c.(478-480)gGg>gAg	p.G160E	C1orf106_ENST00000413687.2_Missense_Mutation_p.G75E	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	160										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTCAAACCAGGGGAAAAGGCC	0.612000													8	17					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129201020	129201020	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:129201020C>T	ENST00000308167.5	-	9	2047	c.1668G>A	c.(1666-1668)atG>atA	p.M556I	ELF4_ENST00000335997.7_Missense_Mutation_p.M556I	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	556					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCAGCCCCTCCATGGGGGCCC	0.602000			T	ERG	AML								58	95					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157684347	157684347	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:157684347C>T	ENST00000502773.1	-	6	1423	c.933G>A	c.(931-933)ttG>ttA	p.L311L	PDGFC_ENST00000422544.2_Silent_p.L248L|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000542208.1_Silent_p.L156L|PDGFC_ENST00000541126.1_Silent_p.L148L	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	311					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TCTTTGGTCTCAACTGAAGGA	0.458000													32	41					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231060694	231060694	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:231060694G>A	ENST00000366661.4	-	14	1621	c.1614C>T	c.(1612-1614)gtC>gtT	p.V538V	TTC13_ENST00000366662.4_Silent_p.V485V|TTC13_ENST00000414259.1_Silent_p.V485V	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	538							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CGGCTTGCATGACCTCCAATG	0.463000													49	56					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43248361	43248361	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:43248361G>A	ENST00000255226.6	+	15	2771	c.1955G>A	c.(1954-1956)gGg>gAg	p.G652E	SLC14A2_ENST00000586448.1_Missense_Mutation_p.G652E|SLC14A2_ENST00000589658.1_Missense_Mutation_p.G129E	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	652						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGCTGGTGGGGCTGCTGATG	0.572000													9	30					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121293252	121293252	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:121293252C>T	ENST00000297848.3	+	31	4048	c.3778C>T	c.(3778-3780)Cca>Tca	p.P1260S	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1260S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1165S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1260	Nonhelical region (NC4).|TSP N-terminal.				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)			CAATGTGTTTCCATGTTACCA	0.368000													19	26					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122334584	122334584	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:122334584T>A	ENST00000310366.4	+	1	123	c.28T>A	c.(28-30)Tta>Ata	p.L10I	PARP15_ENST00000493645.1_Missense_Mutation_p.L10I|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000464300.2_Intron|PARP15_ENST00000465304.1_Intron	NM_152615.1	NP_689828.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ATTAATATTTTTACACAATAT	0.328000													17	27					0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857201	101857201	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:101857201G>A	ENST00000604957.1	+	1	2754	c.132G>A	c.(130-132)ctG>ctA	p.L44L	ARMCX5_ENST00000372742.1_Silent_p.L44L|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Silent_p.L44L|ARMCX5_ENST00000246174.2_Silent_p.L44L|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000537008.1_Silent_p.L44L|ARMCX5_ENST00000541409.1_Silent_p.L44L	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	44							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGCAGAACTGAAAACAGAAT	0.542000													26	39					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135276343	135276343	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:135276343G>T	ENST00000285968.6	+	11	1645	c.1619G>T	c.(1618-1620)aGt>aTt	p.S540I	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	540					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AATGGTAGTAGTCATGGTAAG	0.393000													13	32					3.32936e-07	3.35363e-07	1	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250856	140250856	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:140250856C>T	ENST00000398640.2	+	1	2168	c.2168C>T	c.(2167-2169)tCg>tTg	p.S723L	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGTGGTCGGCAACGCCC	0.672000													29	20					0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46447858	46447858	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:46447858G>A	ENST00000262158.2	-	4	1451	c.1165C>T	c.(1165-1167)Ccg>Tcg	p.P389S	SMAD7_ENST00000589634.1_Missense_Mutation_p.P388S|SMAD7_ENST00000591805.1_Missense_Mutation_p.P174S	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	389	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					CCCGTCCACGGCTGCTGCATA	0.582000													14	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179560091	179560091	+	Silent	SNP	T	T	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:179560091T>G	ENST00000589042.1	-	115	31478	c.31254A>C	c.(31252-31254)gcA>gcC	p.A10418A	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.A10101A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.A9174A|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10101	Glu-rich.|Pro-rich.						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)			GAGGTGGTGGTGCTTTCTTTT	0.348000													12	47					0	0	1	0	0
VPS29	51699	broad.mit.edu	37	12	110930957	110930957	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:110930957G>A	ENST00000549578.1	-	3	340	c.275C>T	c.(274-276)cCa>cTa	p.P92L	VPS29_ENST00000360579.7_Missense_Mutation_p.P96L|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.P124L|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000549970.1_5'UTR	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	92					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATCTCCCCATGGAATAACTTG	0.403000													17	17					0	0	1	0	0
MOB3B	79817	broad.mit.edu	37	9	27359173	27359173	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:27359173C>T	ENST00000262244.5	-	3	904	c.480G>A	c.(478-480)cgG>cgA	p.R160R	MOB3B_ENST00000603061.1_5'UTR	NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	160							metal ion binding|protein binding										GGACAAAGACCCGGAAAAGGC	0.458000													74	50					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221832	59221832	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:59221832G>A	ENST00000262717.4	+	12	2708	c.2310G>A	c.(2308-2310)tcG>tcA	p.S770S	CDH20_ENST00000538374.1_Silent_p.S770S|CDH20_ENST00000536675.2_Silent_p.S770S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	770					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGTCGGACTCGGAACAGAGCT	0.687000													7	5					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074690	9074690	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:9074690C>T	ENST00000397910.4	-	3	12959	c.12756G>A	c.(12754-12756)atG>atA	p.M4252I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4254	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTGCCTCCATATTCGTCA	0.473000													13	49					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801553	148801553	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:148801553G>A	ENST00000378061.2	-	4	1542	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	470					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGGCGCAGGGGAAGGGCTTTT	0.667000													26	42					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128630798	128630798	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:128630798C>T	ENST00000371122.4	-	12	1684	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	SMARCA1_ENST00000371121.3_Missense_Mutation_p.E519K|SMARCA1_ENST00000371123.1_Missense_Mutation_p.E519K	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	519	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CAATAATCTTCCAAAATATCC	0.393000													53	75					0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1648489	1648489	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:1648489G>A	ENST00000324015.3	+	3	161	c.84G>A	c.(82-84)atG>atA	p.M28I	SERPINF2_ENST00000450523.2_Missense_Mutation_p.M28I|SERPINF2_ENST00000382061.4_Missense_Mutation_p.M28I	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	28					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TGAGCGCCATGGAGCCCTTGG	0.667000													3	4					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48337165	48337165	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:48337165G>A	ENST00000285737.4	+	11	1837	c.1744G>A	c.(1744-1746)Gga>Aga	p.G582R	LONP2_ENST00000535754.1_Missense_Mutation_p.G538R	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	582					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGGCAGAAGGACAGCATAA	0.512000													17	83					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169690785	169690785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:169690785C>T	ENST00000444448.2	+	9	930	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	NOSTRIN_ENST00000421711.2_Nonsense_Mutation_p.Q124*|NOSTRIN_ENST00000397206.2_Nonsense_Mutation_p.Q74*|NOSTRIN_ENST00000445023.2_Nonsense_Mutation_p.Q74*|NOSTRIN_ENST00000458381.2_Nonsense_Mutation_p.Q152*|NOSTRIN_ENST00000397209.2_Nonsense_Mutation_p.Q124*|NOSTRIN_ENST00000317647.7_Nonsense_Mutation_p.Q152*			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	152					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AGCACTTTTCCAGCTTGTAGA	0.443000													18	31					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035873	56035873	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:56035873C>T	ENST00000244728.5	-	4	1091	c.694G>A	c.(694-696)Gat>Aat	p.D232N	COL21A1_ENST00000370819.1_Missense_Mutation_p.D232N|COL21A1_ENST00000535941.1_Missense_Mutation_p.D232N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	232	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAAAGAATATCAAATCCCCTT	0.313000													27	35					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520943	52520943	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:52520943G>A	ENST00000216286.5	-	4	863	c.864C>T	c.(862-864)tcC>tcT	p.S288S	NID2_ENST00000541773.1_Silent_p.S235S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	288						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGTGGGCAGCGGAAAGGTCTC	0.517000													16	27					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11725780	11725780	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:11725780G>A	ENST00000262442.3	+	47	8944	c.8876G>A	c.(8875-8877)gGa>gAa	p.G2959E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2959E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2959	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCTGTGGGAAACAAGCTA	0.542000													49	80					0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167570384	167570384	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:167570384G>A	ENST00000366834.1	-	1	1433	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	312						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CTCTGGGGTTGAAATCTGGGG	0.542000													37	47					0	0	1	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591344	234591344	+	Missense_Mutation	SNP	G	G	A	rs144940363		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:234591344G>A	ENST00000373426.3	+	1	761	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2												p.R254Q(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGGTTGTTGCGAACTGACTTT	0.423000													97	167					0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43201582	43201582	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:43201582G>A	ENST00000539749.1	-	3	698	c.508C>T	c.(508-510)Cct>Tct	p.P170S	CLDN19_ENST00000372539.3_Missense_Mutation_p.P198L|CLDN19_ENST00000296387.1_Missense_Mutation_p.P198L	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	171					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGCCGATAGGGCTGTGGGCT	0.701000													5	5					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51025756	51025756	+	Silent	SNP	A	A	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:51025756A>G	ENST00000442544.2	+	27	4603	c.3987A>G	c.(3985-3987)agA>agG	p.R1329R	DCC_ENST00000581580.1_Silent_p.R962R|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1329					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCAAGCAGAACCATCCCCA	0.537000													20	93					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692946	135692946	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:135692946C>T	ENST00000513104.1	-	2	412	c.130G>A	c.(130-132)Gag>Aag	p.E44K	TRPC7_ENST00000355180.3_Missense_Mutation_p.E44K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E44K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	44					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGCGCTCCTCCTCGGGCGTC	0.612000													49	91					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634890	179634890	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:179634890C>T	ENST00000589042.1	-	36	8762	c.8538G>A	c.(8536-8538)agG>agA	p.R2846R	TTN_ENST00000359218.5_Silent_p.R2800R|TTN_ENST00000460472.2_Silent_p.R2800R|TTN_ENST00000360870.5_Silent_p.R2846R|TTN_ENST00000591111.1_Silent_p.R2846R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R2846R|TTN_ENST00000342175.6_Silent_p.R2800R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2584							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)			TGTGGACTTTCCTTTCTGAGA	0.458000													37	81					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42173353	42173353	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:42173353G>A	ENST00000320955.6	-	13	2764	c.2537C>T	c.(2536-2538)cCt>cTt	p.P846L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	846					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCATCCCCAGGGCCAGGGTG	0.602000													3	36					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103252111	103252111	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:103252111C>T	ENST00000424685.2	-	21	3001	c.2842G>A	c.(2842-2844)Gtg>Atg	p.V948M	RELN_ENST00000343529.5_Missense_Mutation_p.V948M|RELN_ENST00000428762.1_Missense_Mutation_p.V948M			P78509	RELN_HUMAN	reelin	948					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAGCTTCACCTGGTTGTCC	0.463000													11	15					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423263	26423263	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr22:26423263C>T	ENST00000335473.7	+	43	7573	c.7323C>T	c.(7321-7323)ttC>ttT	p.F2441F	MYO18B_ENST00000536101.1_Silent_p.F2441F|MYO18B_ENST00000407587.2_Silent_p.F2442F	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2441						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGTGGACTTCGATGACTTCC	0.562000													60	86					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36985129	36985129	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:36985129G>A	ENST00000282516.8	+	10	2346	c.1847G>A	c.(1846-1848)aGt>aAt	p.S616N	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.S616N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	616					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)			ATGAAACAAAGTGAAAGTAGA	0.343000													10	49					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256907	63256907	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:63256907G>A	ENST00000323865.3	-	1	873	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	214					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.L214I(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CGCCCATAGAGAACCAGCATG	0.582000													73	130					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739232	38739232	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:38739232C>T	ENST00000449082.2	-	27	5478	c.5479G>A	c.(5479-5481)Gag>Aag	p.E1827K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1827					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATAAACTTCTCCTCCATATTT	0.428000													32	43					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159650885	159650885	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:159650885G>A	ENST00000297267.9	+	10	1419	c.1219G>A	c.(1219-1221)Gga>Aga	p.G407R	FNDC1_ENST00000340366.6_Intron	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	407	Fibronectin type-III 4.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAAACCATTTGGAGCAAAGTC	0.498000													104	140					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57918084	57918084	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:57918084C>T	ENST00000574161.1	+	5	638	c.519C>T	c.(517-519)ggC>ggT	p.G173G	GCOM1_ENST00000572390.1_Silent_p.G173G|GCOM1_ENST00000587652.1_Silent_p.G173G|GCOM1_ENST00000380569.2_Silent_p.G173G|GCOM1_ENST00000380561.2_Silent_p.G142G|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380568.3_Silent_p.G173G|GCOM1_ENST00000396180.1_Silent_p.G142G|MYZAP_ENST00000267853.5_Silent_p.G173G|MYZAP_ENST00000380565.4_Silent_p.G173G|POLR2M_ENST00000380563.2_5'UTR	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		173					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						ATTCCATTGGCCTGCAAGTAC	0.473000													7	27					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153129912	153129912	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:153129912G>A	ENST00000370060.1	-	25	3376	c.3187C>T	c.(3187-3189)Ctt>Ttt	p.L1063F	L1CAM_ENST00000543994.1_Missense_Mutation_p.L1065F|L1CAM_ENST00000361699.4_Missense_Mutation_p.L1063F|L1CAM_ENST00000361981.3_Missense_Mutation_p.L1058F|L1CAM_ENST00000370055.1_Missense_Mutation_p.L1058F|L1CAM_ENST00000370057.3_Missense_Mutation_p.L1063F|L1CAM_ENST00000538883.1_Missense_Mutation_p.L1065F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1063	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGGCGAAAGGGAAGCCCCA	0.597000													63	101					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76343953	76343953	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:76343953T>A	ENST00000263187.3	+	11	1594	c.1490T>A	c.(1489-1491)tTt>tAt	p.F497Y		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	497					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATAAATGAATTTCTTGACATA	0.328000								Mismatch excision repair (MMR)					25	29					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223781102	223781102	+	Silent	SNP	A	A	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:223781102A>G	ENST00000357430.3	+	5	975	c.444A>G	c.(442-444)ggA>ggG	p.G148G	ACSL3_ENST00000392066.3_Silent_p.G148G	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	148					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTAATTTTGGAAATGGATTAC	0.378000			T	ETV1	prostate								24	30					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3011088	3011088	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:3011088G>A	ENST00000262953.6	-	12	1206	c.944C>T	c.(943-945)cCc>cTc	p.P315L	TLE2_ENST00000426948.2_Missense_Mutation_p.P329L|TLE2_ENST00000590536.1_Missense_Mutation_p.P316L|TLE2_ENST00000443826.3_Missense_Mutation_p.P193L|TLE2_ENST00000455444.2_Missense_Mutation_p.P193L|TLE2_ENST00000447365.2_Missense_Mutation_p.P24S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000591529.1_Missense_Mutation_p.P329L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	315	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGCCCGGGGGTGGAAGC	0.647000													9	16					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106734677	106734677	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:106734677G>A	ENST00000299045.3	+	9	1390	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	406										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GACCCTGATGGAAAGAGGTTT	0.378000													33	44					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748330	111748330	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:111748330G>A	ENST00000261726.6	+	15	1898	c.1744G>A	c.(1744-1746)Ggg>Agg	p.G582R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	582						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TTACGTGCTGGGGCTGTCGCA	0.612000													46	113					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566257	27566257	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:27566257G>A	ENST00000359541.2	-	2	594	c.165C>T	c.(163-165)acC>acT	p.T55T	GTF3C2_ENST00000264720.3_Silent_p.T55T			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	55						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCAAAGGGGTAGGTAATG	0.507000													88	121					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31904654	31904654	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:31904654C>T	ENST00000396184.3	-	8	856	c.652G>A	c.(652-654)Gtg>Atg	p.V218M	PDE1C_ENST00000396182.2_Missense_Mutation_p.V218M|PDE1C_ENST00000321453.7_Missense_Mutation_p.V218M|PDE1C_ENST00000396193.1_Missense_Mutation_p.V278M|PDE1C_ENST00000396191.1_Missense_Mutation_p.V218M	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	218	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTGTATCCCACTTCCAGGGCC	0.453000													31	34					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022245	107022245	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:107022245C>T	ENST00000369701.3	+	26	3827	c.3600C>T	c.(3598-3600)gtC>gtT	p.V1200V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1200						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACACGCGGGTCATAGGTACAT	0.537000													19	14					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691754	153691754	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:153691754G>A	ENST00000304337.2	-	2	1223	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	135	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GATTTAAAACGATCCAGCCAA	0.413000													31	49					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459825	107459825	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:107459825G>A	ENST00000409382.3	-	2	1219	c.609C>T	c.(607-609)ttC>ttT	p.F203F	ST6GAL2_ENST00000361686.4_Silent_p.F203F|ST6GAL2_ENST00000409087.3_Silent_p.F203F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	203					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCCGGTACAGGAAGGCCCTGG	0.622000													28	38					0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37145457	37145457	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:37145457C>T	ENST00000361487.6	+	4	1051	c.826C>T	c.(826-828)Cct>Tct	p.P276S	PAX9_ENST00000402703.2_Missense_Mutation_p.P276S|PAX9_ENST00000554201.1_Silent_p.L85L|PAX9_ENST00000557107.1_3'UTR			P55771	PAX9_HUMAN	paired box 9	276					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CAGCATGGCTCCTTACCCTAC	0.512000													45	62					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2641562	2641562	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:2641562G>A	ENST00000380843.4	-	5	421	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	IDH3B_ENST00000380851.5_Missense_Mutation_p.R131W|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	131					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	p.R131W(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	TACCTCAGCCGCATATCATAG	0.567000													3	43					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121757	50121757	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:50121757C>T	ENST00000374160.3	-	1	520	c.444G>A	c.(442-444)gaG>gaA	p.E148E	RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Silent_p.E148E|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	148						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GGAGCCCTACCTCGTGGAGCT	0.557000													10	16					0	0	1	0	0
TMEM243	79161	broad.mit.edu	37	7	86825970	86825970	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:86825970G>A	ENST00000433078.1	-	5	780	c.339C>T	c.(337-339)ttC>ttT	p.F113F	TMEM243_ENST00000481425.1_5'UTR|TMEM243_ENST00000257637.3_Silent_p.F113F					transmembrane protein 243, mitochondrial																		CCACATCATGGAAGTACAGGT	0.373000													18	27					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13228185	13228185	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:13228185A>T	ENST00000379350.1	+	8	1253	c.1124A>T	c.(1123-1125)aAt>aTt	p.N375I	PHACTR1_ENST00000457702.2_Missense_Mutation_p.N230I|PHACTR1_ENST00000332995.7_Missense_Mutation_p.N375I|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	375						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTGATGACAATAAAGAAAAT	0.483000													57	89					0	0	1	0	0
TSPAN2	10100	broad.mit.edu	37	1	115615589	115615589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:115615589G>A	ENST00000369516.2	-	2	140	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	TSPAN2_ENST00000369514.2_Missense_Mutation_p.R37W|TSPAN2_ENST00000369515.2_Missense_Mutation_p.R37W	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	37						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCTCCGAACCGAAACCATAGT	0.507000													31	46					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2819159	2819159	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:2819159C>T	ENST00000301740.8	+	12	8444	c.7895C>T	c.(7894-7896)tCc>tTc	p.S2632F	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2632	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						tcctcctcttcctcttcttct	0.587000													27	39					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31537407	31537407	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:31537407G>A	ENST00000261592.5	-	8	1608	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Silent_p.I152I|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Silent_p.I363I|NOL4_ENST00000535475.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	437						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGATAGCCTGGATCTTTTCTT	0.473000													24	15					0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40366930	40366930	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr22:40366930C>T	ENST00000344138.4	+	8	1098	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	GRAP2_ENST00000544756.1_Silent_p.L207L|GRAP2_ENST00000399090.2_Silent_p.L166L|GRAP2_ENST00000543252.1_Silent_p.L239L|GRAP2_ENST00000540310.1_Silent_p.L213L|GRAP2_ENST00000407075.3_Silent_p.L279L	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	279	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCCGGGCGCTGTATGACTT	0.672000													23	43					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48605560	48605560	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:48605560C>T	ENST00000323776.5	+	16	2627	c.2465C>T	c.(2464-2466)tCc>tTc	p.S822F	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S785F	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	785					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTGGGCCATTCCATGTGGCTG	0.522000													7	21					0	0	1	0	0
PRMT7	54496	broad.mit.edu	37	16	68373835	68373835	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:68373835C>T	ENST00000339507.5	+	9	1721	c.891C>T	c.(889-891)gcC>gcT	p.A297A	PRMT7_ENST00000441236.1_Silent_p.A247A|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Silent_p.A247A|PRMT7_ENST00000348497.4_Silent_p.A223A			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	297					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GCACCATGGCCCCCTTCTGGG	0.567000													17	13					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109286781	109286781	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:109286781T>A	ENST00000228476.3	+	6	680	c.476T>A	c.(475-477)tTc>tAc	p.F159Y	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	159					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGAGTGAAGTTCTTCCAGCGG	0.552000													17	20					0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129498724	129498724	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:129498724C>T	ENST00000543953.1	+	7	661	c.612C>T	c.(610-612)ttC>ttT	p.F204F	SLC25A14_ENST00000545805.1_Silent_p.F239F|SLC25A14_ENST00000218197.5_Silent_p.F239F|SLC25A14_ENST00000361980.5_Silent_p.F236F|SLC25A14_ENST00000339231.3_Silent_p.F267F|SLC25A14_ENST00000467496.1_3'UTR			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	239					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TAACTCACTTCGTGTAAGTAG	0.388000													29	36					0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67059570	67059570	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:67059570C>T	ENST00000447274.2	+	6	1564	c.389C>T	c.(388-390)cCc>cTc	p.P130L	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.P217L|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.P130L|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.P130L			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	130										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCATGCGGCCCAGCGAGGAG	0.637000													43	73					0	0	1	0	0
MOSPD1	56180	broad.mit.edu	37	X	134033426	134033426	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:134033426C>T	ENST00000370783.3	-	2	224	c.38G>A	c.(37-39)gGa>gAa	p.G13E	MOSPD1_ENST00000370779.4_Missense_Mutation_p.G13E|MOSPD1_ENST00000491609.1_5'UTR|MOSPD1_ENST00000370777.1_Missense_Mutation_p.G13E	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	13					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					AGGAAGATTTCCTTCCACTAA	0.398000													55	57					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962343	165962343	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:165962343G>A	ENST00000512596.1	+	3	1335	c.1119G>A	c.(1117-1119)agG>agA	p.R373R	TRIM60_ENST00000508504.1_Silent_p.R373R|TRIM60_ENST00000341062.5_Silent_p.R373R	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	373	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GTCTTCTTAGGAACTGGCAGG	0.478000													42	75					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187722	121187722	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:121187722G>A	ENST00000321339.1	+	1	73	c.64G>A	c.(64-66)Gtg>Atg	p.V22M		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	22					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TCTGCGCCCGGTGCGCTGCTG	0.731000													23	24					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26756521	26756521	+	Silent	SNP	A	A	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:26756521A>G	ENST00000264866.4	+	21	1811	c.1533A>G	c.(1531-1533)ttA>ttG	p.L511L	TBC1D19_ENST00000511789.1_Silent_p.L446L	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	511						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TTTCTACTTTAAAAGTTATGC	0.318000													21	36					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227895189	227895189	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:227895189G>A	ENST00000396625.3	-	41	4150	c.3943C>T	c.(3943-3945)Cca>Tca	p.P1315S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1315S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1315	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P1315S(2)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCACATCCTGGAAAGCCTTTG	0.517000													41	73					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164780173	164780173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:164780173G>A	ENST00000264382.3	-	9	1068	c.1006C>T	c.(1006-1008)Caa>Taa	p.Q336*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	336	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.Q336*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGATACTGTTGAACTACTTGT	0.323000										HNSCC(35;0.089)			10	14					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47614453	47614453	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr21:47614453G>A	ENST00000397728.3	-	20	2018	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	LSS_ENST00000457828.2_Missense_Mutation_p.S567F|LSS_ENST00000356396.4_Missense_Mutation_p.S647F|LSS_ENST00000522411.1_Missense_Mutation_p.S636F	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	647					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					ATGGATCTGGGACTGGGCACT	0.632000													19	22					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857944	9857944	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:9857944C>T	ENST00000396573.2	-	14	3766	c.3457G>A	c.(3457-3459)Gat>Aat	p.D1153N	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1153N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1153N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D996N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1153N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1153N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1153					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.D1153N(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)	TCACTGGGATCCTGGTAGGGG	0.522000													71	102					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113276376	113276376	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:113276376C>T	ENST00000401783.2	-	4	1311	c.975G>A	c.(973-975)tcG>tcA	p.S325S	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.S325S|SVEP1_ENST00000374461.1_Silent_p.S302S|SVEP1_ENST00000374469.1_Silent_p.S302S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	325					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGTATGTCCCCGATGGGCAAG	0.483000													12	2					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496743	52496743	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:52496743C>T	ENST00000602063.1	-	6	1935	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	ZNF615_ENST00000376716.5_Missense_Mutation_p.G529E|ZNF615_ENST00000598071.1_Missense_Mutation_p.G540E|ZNF615_ENST00000594083.1_Missense_Mutation_p.G540E|ZNF615_ENST00000391795.3_Missense_Mutation_p.G534E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	529					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)		TCGTTGATGTCCCATTAGCCG	0.448000													46	48					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328349	57328349	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:57328349G>A	ENST00000326441.9	-	10	1824	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.I361I|PEG3_ENST00000598410.1_Silent_p.I363I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.I487I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	487					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I487M(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCACACTGTGGATAAAGGACT	0.463000													43	72					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128864288	128864288	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:128864288A>C	ENST00000274487.4	+	6	1373	c.1228A>C	c.(1228-1230)Aaa>Caa	p.K410Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	410	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGAATTTGGCAAAAAGAATGA	0.373000													8	61					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126243897	126243897	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:126243897G>A	ENST00000368357.3	+	14	2792	c.2440G>A	c.(2440-2442)Ggg>Agg	p.G814R	NCOA7_ENST00000392477.2_Missense_Mutation_p.G814R|NCOA7_ENST00000229634.9_Missense_Mutation_p.G699R	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	814	TLD.				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GTTAGAGCACGGGACCAGCTT	0.512000													37	39					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283065	152283065	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:152283065C>T	ENST00000368799.1	-	3	4332	c.4297G>A	c.(4297-4299)Gaa>Aaa	p.E1433K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1433	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)			CCAGAGCTTTCCCCTGACTGG	0.567000									Ichthyosis				182	172					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20766748	20766748	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:20766748T>G	ENST00000404938.2	+	22	3363	c.2711T>G	c.(2710-2712)cTt>cGt	p.L904R	ABCB5_ENST00000258738.6_Missense_Mutation_p.L459R	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	459					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAGAGATGCTTCAGACTCAA	0.373000													18	29					0	0	1	0	0
FAM177B	400823	broad.mit.edu	37	1	222922866	222922866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:222922866C>T	ENST00000445590.2	+	5	567	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	FAM177B_ENST00000360827.2_Nonsense_Mutation_p.Q101*	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	101										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						ACCCAAATATCAGTATGTGTT	0.383000													13	23					0	0	1	0	0
ABHD17A	81926	broad.mit.edu	37	19	1881297	1881297	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:1881297G>A	ENST00000292577.7	-	2	702	c.269C>T	c.(268-270)cCc>cTc	p.P90L	ABHD17A_ENST00000250974.9_Missense_Mutation_p.P90L|ABHD17A_ENST00000590661.1_Missense_Mutation_p.P90L	NM_001130111.1	NP_001123583.1			abhydrolase domain containing 17A																		GCTCTTGGTGGGGAAGACCTC	0.687000													20	57					0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66352821	66352821	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:66352821G>A	ENST00000448504.2	+	6	1376	c.580G>A	c.(580-582)Gac>Aac	p.D194N	ARSG_ENST00000452479.2_Missense_Mutation_p.D30N|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	194					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCTTCAAAGAGACTGTTACAC	0.463000													18	33					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889986	51889986	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:51889986C>T	ENST00000371117.3	-	32	4897	c.4622G>A	c.(4621-4623)aGa>aAa	p.R1541K	PKHD1_ENST00000340994.4_Missense_Mutation_p.R1541K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1541	IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCAAGTCTCTTGTCTGGCA	0.443000													26	27					0	0	1	0	0
MED22	6837	broad.mit.edu	37	9	136208418	136208418	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:136208418G>A	ENST00000491289.1	-	5	1121	c.540C>T	c.(538-540)ccC>ccT	p.P180P	MED22_ENST00000486395.1_3'UTR|MED22_ENST00000343730.5_Silent_p.P180P|MED22_ENST00000476080.1_3'UTR|MED22_ENST00000344469.5_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	180					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CCACCTGTAGGGGGCCAGCAC	0.677000													14	7					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123987880	123987880	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:123987880G>A	ENST00000360013.3	+	5	868	c.741G>A	c.(739-741)cgG>cgA	p.R247R	KALRN_ENST00000460856.1_Silent_p.R247R|KALRN_ENST00000240874.3_Silent_p.R247R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	247					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTGGACCGGGAGGGGCAGC	0.622000													10	19					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116101408	116101408	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:116101408C>T	ENST00000410059.1	+	3	671	c.191C>T	c.(190-192)tCg>tTg	p.S64L	DPP10_ENST00000310323.8_Missense_Mutation_p.S57L|DPP10_ENST00000409163.1_Missense_Mutation_p.S14L|DPP10_ENST00000393147.2_Missense_Mutation_p.S68L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	64					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTCACAAATTCGTCAGAAACC	0.348000													16	29					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10621555	10621555	+	Silent	SNP	C	C	T	rs145668374		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:10621555C>T	ENST00000254958.5	-	25	3590	c.3075G>A	c.(3073-3075)ggG>ggA	p.G1025G	JAG1_ENST00000423891.2_Silent_p.G866G	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1025					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGATCGGGTTCCCATCATCCC	0.413000									Alagille Syndrome				22	42					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140596039	140596039	+	Missense_Mutation	SNP	G	G	A	rs138168445	byFrequency	TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:140596039G>A	ENST00000341948.4	+	1	2531	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		782					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGGAAAGAAATACAAGG	0.438000													26	21					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58018198	58018198	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:58018198G>A	ENST00000282292.4	+	4	875	c.735G>A	c.(733-735)agG>agA	p.R245R	ZNF773_ENST00000598770.1_Silent_p.R244R|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CTGGAGAAAGGCCTTATGGGT	0.428000													28	58					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78612101	78612101	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:78612101G>C	ENST00000396137.4	+	10	3400	c.2938G>C	c.(2938-2940)Gct>Cct	p.A980P	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	980					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CGAAGAGGAGGCTTTACCTTG	0.443000													7	21					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229622	38229622	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:38229622G>A	ENST00000339503.4	-	8	2096	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V	ZNF573_ENST00000392138.1_Missense_Mutation_p.A503V|ZNF573_ENST00000357309.3_Missense_Mutation_p.A502V|ZNF573_ENST00000536220.1_Missense_Mutation_p.A502V|ZNF573_ENST00000590414.2_Missense_Mutation_p.A590V	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CATTTTAAAGGCCTTTCCACA	0.398000													23	34					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132529956	132529956	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:132529956C>T	ENST00000333577.4	+	39	7094	c.6985C>T	c.(6985-6987)Cgc>Tgc	p.R2329C	EP400_ENST00000389561.2_Missense_Mutation_p.R2293C|EP400_ENST00000330386.6_Missense_Mutation_p.R2212C|EP400_ENST00000389562.2_Missense_Mutation_p.R2292C|EP400_ENST00000332482.4_Missense_Mutation_p.R2256C			Q96L91	EP400_HUMAN	E1A binding protein p400	2329					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCTGAAAATTCGCAGAGAGGG	0.577000													22	24					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13260469	13260469	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:13260469C>T	ENST00000262487.3	+	3	573	c.567C>T	c.(565-567)ttC>ttT	p.F189F	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	189						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						ACAGCAACTTCCTCAACCCCC	0.572000													26	66					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925897	27925897	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:27925897G>A	ENST00000244623.1	+	1	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATACACTTAGGAACAAGGAGG	0.393000													32	57					0	0	1	0	0
RSPH3	83861	broad.mit.edu	37	6	159420903	159420903	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:159420903G>A	ENST00000252655.1	-	1	295	c.106C>T	c.(106-108)Cct>Tct	p.P36S	RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RSPH3_ENST00000297262.3_Missense_Mutation_p.P36S	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	36										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GCGGCACAAGGGACTTCCGGC	0.692000													21	34					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10312881	10312881	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:10312881C>T	ENST00000403437.2	-	16	1706	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	538	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CACTCCTCTTCCAGGATGGAG	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				36	46					0	0	1	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733415	106733415	+	RNA	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:106733415C>T	ENST00000390610.2	-	0	139																											CACCTCAGCCCCAGACTGTAC	0.592000													74	110					0	0	1	0	0
TSPAN3	10099	broad.mit.edu	37	15	77346606	77346606	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:77346606C>A	ENST00000267970.4	-	4	619	c.346G>T	c.(346-348)Gat>Tat	p.D116Y	TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000346495.2_Missense_Mutation_p.D91Y|TSPAN3_ENST00000558745.1_5'UTR|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000424443.3_Missense_Mutation_p.D52Y|TSPAN3_ENST00000559494.1_Missense_Mutation_p.D27Y	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	116						integral to membrane				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		ATGCTGCGATCAACCTCATTT	0.388000													17	34					2.23348e-06	2.24322e-06	1	1	0
SLC35G5	83650	broad.mit.edu	37	8	11188893	11188893	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:11188893C>T	ENST00000382435.4	+	1	497	c.278C>T	c.(277-279)cCc>cTc	p.P93L		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	93	DUF6 1.					integral to membrane											CGTGGCGACCCCCTTCTGGGA	0.597000													10	330					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7682777	7682777	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:7682777C>T	ENST00000256861.6	-	4	419	c.341G>A	c.(340-342)aGa>aAa	p.R114K	ITIH5_ENST00000397145.2_Missense_Mutation_p.R114K|ITIH5_ENST00000397146.2_Missense_Mutation_p.R114K|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	114	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTTCTTTTCTCTCTCTGTAAT	0.373000													22	67					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97356825	97356825	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:97356825G>A	ENST00000389672.5	+	14	2721	c.2683G>A	c.(2683-2685)Gct>Act	p.A895T	EPHA6_ENST00000514100.1_Missense_Mutation_p.A287T|EPHA6_ENST00000502694.1_Missense_Mutation_p.A287T|EPHA6_ENST00000442602.2_3'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	800	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGACCTAGCGGCTCGGAATAT	0.453000													58	72					0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35259951	35259951	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:35259951G>A	ENST00000342280.4	+	2	225	c.137G>A	c.(136-138)gGt>gAt	p.G46D		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	46					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCAGTGTGGGGTGACGAGCAA	0.607000													43	74					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156887205	156887205	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:156887205G>A	ENST00000311946.7	+	1	179	c.63G>A	c.(61-63)ctG>ctA	p.L21L	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Silent_p.L21L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	21						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCCCACCCCTGGGTCCGGACC	0.771000													3	0					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886083	88886083	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:88886083G>A	ENST00000319675.3	-	1	213	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	39								p.F39F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AATAGTTGGCGAATCTGAGGA	0.522000													32	43					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327243	52327243	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:52327243G>A	ENST00000339223.4	+	2	421	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	FPR3_ENST00000595991.1_Missense_Mutation_p.R81Q	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	81					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.R81Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTACCATTCCGAATGGTCTCA	0.468000													55	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633423	179633423	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:179633423G>A	ENST00000589042.1	-	38	9364	c.9140C>T	c.(9139-9141)tCa>tTa	p.S3047L	TTN_ENST00000359218.5_Missense_Mutation_p.S3001L|TTN_ENST00000460472.2_Missense_Mutation_p.S3001L|TTN_ENST00000360870.5_Missense_Mutation_p.S3047L|TTN_ENST00000591111.1_Missense_Mutation_p.S3047L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S3047L|TTN_ENST00000342175.6_Missense_Mutation_p.S3001L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2786	Ig-like 17.						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)			TGTGGCTGTTGATGTTGCTTT	0.373000													20	25					0	0	1	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197742	142197742	+	RNA	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:142197742C>T	ENST00000471935.1	-	0	235																											GGGCCCTGTCCCAGGATCTGC	0.463000													41	44					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79937584	79937584	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:79937584C>T	ENST00000373275.4	-	39	4623	c.4407G>A	c.(4405-4407)ggG>ggA	p.G1469G	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1469										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						GTTTCTGCTTCCCTTTTGGAC	0.358000													26	51					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27185451	27185451	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:27185451G>A	ENST00000222728.3	-	2	552	c.528C>T	c.(526-528)ttC>ttT	p.F176F	HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GGTAGCGGTTGAAGTGGAACT	0.622000													83	120					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863220	154863220	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:154863220C>T	ENST00000287907.2	+	1	1187	c.611C>T	c.(610-612)tCc>tTc	p.S204F	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	204						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCCGTGTTCTCCACCGTAGGC	0.602000													20	27					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071404	240071404	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:240071404C>T	ENST00000255380.4	+	5	1432	c.653C>T	c.(652-654)cCg>cTg	p.P218L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	218					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACTGTGCCTCCGGGAGAGTGC	0.483000													68	73					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88125550	88125550	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:88125550C>T	ENST00000507897.1	+	5	513	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	C6ORF165_ENST00000369562.4_Missense_Mutation_p.L144F			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	144										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CCGCTCTGGCCTTGGATCCCC	0.388000													20	26					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110864021	110864021	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr13:110864021C>T	ENST00000375820.4	-	8	563		c.e8-1		COL4A1_ENST00000543140.1_Splice_Site	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGTGGTCCCTAAAAAAGAA	0.279000													26	39					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182648	133182648	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:133182648G>A	ENST00000388996.4	-	8	1588	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P390S|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P270S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	390					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCCTGTTGGGGTTGGTAGCA	0.522000													10	24					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4791058	4791058	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:4791058G>A	ENST00000380383.1	-	1	110	c.111C>T	c.(109-111)tcC>tcT	p.S37S	OR51F1_ENST00000343430.3_Silent_p.S30S|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	30						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGAAAGGAATGGAGATCCAGA	0.458000													4	16					0	0	1	0	0
FADS6	283985	broad.mit.edu	37	17	72878688	72878688	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:72878688G>A	ENST00000310226.6	-	3	524	c.510C>T	c.(508-510)ctC>ctT	p.L170L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	176					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGCGATGGGGAGGAGGAAAG	0.627000													6	7					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526291	84526291	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:84526291G>A	ENST00000360700.4	+	10	2767	c.1881G>A	c.(1879-1881)ctG>ctA	p.L627L	ZNF711_ENST00000276123.3_Silent_p.L581L|ZNF711_ENST00000542798.1_Silent_p.L423L|ZNF711_ENST00000395402.1_Silent_p.L589L|ZNF711_ENST00000373165.3_Silent_p.L581L			Q9Y462	ZN711_HUMAN	zinc finger protein 711	581					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						AACGCCATCTGGATTTGTTTC	0.413000													10	21					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152806003	152806003	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:152806003C>G	ENST00000367255.5	-	13	1753	c.1152G>C	c.(1150-1152)ttG>ttC	p.L384F	SYNE1_ENST00000341594.5_Missense_Mutation_p.L384F|SYNE1_ENST00000466159.2_Missense_Mutation_p.L384F|SYNE1_ENST00000367253.4_Missense_Mutation_p.L384F|SYNE1_ENST00000413186.2_Missense_Mutation_p.L384F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L391F|SYNE1_ENST00000367248.3_Missense_Mutation_p.L374F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L391F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L384F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	384					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)		ATTGTTTTACCAATGCTTGGT	0.333000										HNSCC(10;0.0054)			16	17					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1761851	1761851	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:1761851G>A	ENST00000381241.3	+	9	1265	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	ASMT_ENST00000381229.4_Missense_Mutation_p.D328N|ASMT_ENST00000381233.3_Missense_Mutation_p.D281N	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	328					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGCTTCAGAGACTTCCAGTT	0.488000													46	53					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179721084	179721084	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:179721084T>A	ENST00000420890.2	-	18	2882	c.2765A>T	c.(2764-2766)aAt>aTt	p.N922I	CCDC141_ENST00000295723.5_Missense_Mutation_p.N347I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	347							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAACTTCAAATTATTGAATTT	0.294000													14	20					0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55838811	55838811	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:55838811G>A	ENST00000302000.6	-	3	764	c.670C>T	c.(670-672)Cct>Tct	p.P224S	PYGO1_ENST00000563719.1_Missense_Mutation_p.P224S	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	224	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTTGGGGGAGGAATAAAAGAA	0.383000													54	63					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434073	69434073	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:69434073C>T	ENST00000317746.2	-	1	172	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	44					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ACAAGCTCTTCCAGGATTGTC	0.428000													131	243					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510706	48510706	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:48510706A>T	ENST00000446524.1	+	1	438	c.362A>T	c.(361-363)tAt>tTt	p.Y121F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TATGACTGCTATGTGGCCATC	0.478000													48	38					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266485	65266485	+	RNA	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:65266485C>T	ENST00000534336.1	+	0	1253					NR_002819.2																						TGTTCTCCGTCTATAAATACG	0.537000													33	57					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054378	21054378	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:21054378G>A	ENST00000381545.3	+	15	2061	c.1842G>A	c.(1840-1842)agG>agA	p.R614R	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.R614R|LST3_ENST00000540229.1_Silent_p.R614R|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.R614R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	614					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGGCTTGTAGGATATATAATT	0.348000													26	46					0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55743298	55743298	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:55743298G>A	ENST00000412770.2	-	19	2744	c.2178C>T	c.(2176-2178)agC>agT	p.S726S	PPP6R1_ENST00000587283.1_Silent_p.S726S	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	726	Pro-rich.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						AGACTCGGGGGCTGGTCGGGG	0.687000													6	14					0	0	1	0	0
SLC16A11	162515	broad.mit.edu	37	17	6945477	6945477	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:6945477G>A	ENST00000308009.1	-	3	1361	c.1024C>T	c.(1024-1026)Ctg>Ttg	p.L342L	SLC16A11_ENST00000447225.1_Silent_p.L310L	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	342						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GCGGCCAGCAGGGGACCCCCC	0.726000													4	6					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799916	212799916	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:212799916C>T	ENST00000294829.3	+	1	2128	c.1697C>T	c.(1696-1698)gCc>gTc	p.A566V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	566										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTGGCCATCGCCGAGACAGCA	0.542000													32	80					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39992307	39992307	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:39992307G>A	ENST00000332312.3	-	3	677	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	162						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TCTGCTGTAGGAAGGGGGCCT	0.657000													22	40					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202590132	202590132	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:202590132G>T	ENST00000264276.6	-	20	3666	c.3294C>A	c.(3292-3294)gaC>gaA	p.D1098E	ALS2_ENST00000457679.2_Missense_Mutation_p.D410E	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1098					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCACATAATGGTCTTCTTTGT	0.378000													78	139					1.72036e-36	1.75854e-36	1	1	0
RHAG	6005	broad.mit.edu	37	6	49574863	49574863	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:49574863C>T	ENST00000371175.4	-	8	1164	c.1138_splice	c.e8+1	p.G380_splice	RHAG_ENST00000229810.7_Splice_Site_p.R339_splice	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	380			G -> V (in RHN).		carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TTATGCTGACCTGTCATCAGA	0.393000													5	17					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149513293	149513293	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:149513293A>T	ENST00000261799.4	-	6	1259	c.790T>A	c.(790-792)Ttc>Atc	p.F264I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	264	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCAAGAGGAAGTCAGTCACC	0.597000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								43	27					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180322292	180322292	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:180322292C>T	ENST00000412756.2	+	5	667	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	TTC14_ENST00000296015.4_Missense_Mutation_p.H200Y|TTC14_ENST00000382584.4_Missense_Mutation_p.H200Y	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	200	S1 motif.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGACAGATACCATGAAAAGCT	0.318000													11	27					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479173	14479173	+	RNA	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:14479173C>T	ENST00000581457.1	-	0	735					NR_024076.1																						TCCCCTTTGGCTTTTTCAATC	0.507000													10	21					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138969268	138969268	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:138969268C>T	ENST00000288561.8	+	15	3617	c.3368C>T	c.(3367-3369)cCa>cTa	p.P1123L	UBN2_ENST00000473989.2_Missense_Mutation_p.P1206L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1206	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTGTCTACTCCACATAGACCA	0.463000													18	36					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524606	9524606	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:9524606G>A	ENST00000592904.1	-	5	3071	c.995C>T	c.(994-996)tCc>tTc	p.S332F	ZNF266_ENST00000588221.1_Missense_Mutation_p.S332F|ZNF266_ENST00000592292.1_Missense_Mutation_p.S332F|ZNF266_ENST00000588933.1_Missense_Mutation_p.S332F|ZNF266_ENST00000361451.2_Missense_Mutation_p.S332F|ZNF266_ENST00000361151.1_Missense_Mutation_p.S332F|ZNF266_ENST00000590306.1_Missense_Mutation_p.S332F			Q14584	ZN266_HUMAN	zinc finger protein 266	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						ATTTCTAAAGGATTTTCCACA	0.378000													45	49					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17113599	17113599	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:17113599G>A	ENST00000377833.4	-	19	2516	c.2451C>T	c.(2449-2451)tgC>tgT	p.C817C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	817	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTCATCCCCGCAAGCTGTAA	0.403000													3	41					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40297477	40297477	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr13:40297477C>G	ENST00000416691.1	+	16	1692	c.1592C>G	c.(1591-1593)gCa>gGa	p.A531G	COG6_ENST00000455146.3_Missense_Mutation_p.A531G	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	531					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TAGATCGAAGCACATTTGGAC	0.373000													8	10					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41038915	41038915	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:41038915G>A	ENST00000399564.4	-	21	2587	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	MROH2B_ENST00000506092.2_Missense_Mutation_p.P268S	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGCTTCTTGGGAGCATGGAGG	0.498000													18	23					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639169	7639169	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:7639169A>C	ENST00000359156.4	-	10	2586	c.2384T>G	c.(2383-2385)aTt>aGt	p.I795S	CD163_ENST00000541972.1_Missense_Mutation_p.I783S|CD163_ENST00000396620.3_Missense_Mutation_p.I828S|CD163_ENST00000432237.2_Missense_Mutation_p.I795S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	795	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCACTGCCAAATGCGGGATTC	0.502000													83	105					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101797333	101797333	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:101797333G>A	ENST00000375001.3	+	18	2540	c.2117G>A	c.(2116-2118)gGg>gAg	p.G706E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	706	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGACCCCCGGGGAAAAAGGGA	0.617000													29	14					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54985298	54985298	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:54985298C>T	ENST00000375006.3	-	5	515	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E127K|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E84K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	149	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TAACCATGTTCTTTTGCAAAC	0.473000													95	124					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59609928	59609928	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:59609928G>A	ENST00000541311.1	-	4	658	c.424C>T	c.(424-426)Ccc>Tcc	p.P142S	GIF_ENST00000257248.2_Missense_Mutation_p.P167S			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	167					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						ACATTGAAGGGAGAGGAGTTG	0.572000													37	62					0	0	1	0	0
MED22	6837	broad.mit.edu	37	9	136208419	136208419	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:136208419G>A	ENST00000491289.1	-	5	1120	c.539C>T	c.(538-540)cCc>cTc	p.P180L	MED22_ENST00000486395.1_3'UTR|MED22_ENST00000343730.5_Missense_Mutation_p.P180L|MED22_ENST00000476080.1_3'UTR|MED22_ENST00000344469.5_3'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	180					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CACCTGTAGGGGGCCAGCACT	0.677000													14	7					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512845	101512845	+	RNA	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:101512845C>T	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA																							CATGTCGAATCGTACAGGGTC	0.488000													19	29					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650119	93650119	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:93650119G>A	ENST00000375754.4	+	12	1818	c.1670G>A	c.(1669-1671)aGc>aAc	p.S557N	SYK_ENST00000375751.4_Missense_Mutation_p.S534N|SYK_ENST00000375746.1_Missense_Mutation_p.S557N|SYK_ENST00000375747.1_Missense_Mutation_p.S534N	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	557	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GATGTCTGGAGCTTTGGAGTG	0.498000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								67	33					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025507	79025507	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:79025507C>T	ENST00000446378.2	+	2	950	c.919C>T	c.(919-921)Ctc>Ttc	p.L307F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	307						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAGGCGCACTCTCCAAAGG	0.418000													44	48					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059680	146059680	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:146059680G>A	ENST00000454497.2	-	21	2189	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	OTUD4_ENST00000447906.2_Silent_p.F749F|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	748							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGCCTCTTGGAACCAGGGAT	0.522000													30	43					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798107	7798107	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:7798107C>A	ENST00000303635.7	+	16	3954	c.3747C>A	c.(3745-3747)aaC>aaA	p.N1249K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N1249K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATAAATTGAACCCTGAGTACT	0.468000			T	WWTR1	epitheliod hemangioendothelioma								17	56					1.5739e-10	1.58768e-10	1	1	0
DNAJC21	134218	broad.mit.edu	37	5	34933970	34933970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:34933970C>T	ENST00000382021.2	+	2	375	c.148C>T	c.(148-150)Caa>Taa	p.Q50*	DNAJC21_ENST00000342382.4_Nonsense_Mutation_p.Q50*|DNAJC21_ENST00000303525.7_Nonsense_Mutation_p.Q50*	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	50	J.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TAAATTAATCCAAGCAGCATA	0.393000													8	28					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48273883	48273883	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:48273883G>A	ENST00000225964.5	-	13	983	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	289	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGCTGCCAGGCTCACCCTGT	0.552000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	147					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118230490	118230490	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:118230490A>T	ENST00000402510.2	-	8	1232	c.1233T>A	c.(1231-1233)aaT>aaA	p.N411K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	411										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTTTGCGGGGATTTAAAGTCA	0.473000													22	29					0	0	1	0	0
KLF15	28999	broad.mit.edu	37	3	126071390	126071390	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:126071390G>A	ENST00000296233.3	-	2	606	c.376C>T	c.(376-378)Cct>Tct	p.P126S		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	126						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TCACCCAAAGGAAACTCGGGC	0.627000													14	13					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89498386	89498386	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:89498386C>T	ENST00000336596.2	+	14	2583	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	EPHA3_ENST00000494014.1_Silent_p.I786I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	786	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GAGGGAAGATCCCAATCAGGT	0.408000										TSP Lung(6;0.00050)			38	51					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													3	15					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451479	138451479	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:138451479G>A	ENST00000344876.4	-	1	2150	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	PCDH18_ENST00000412923.2_Silent_p.I588I|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.I368I|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	588	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGGAATGGTGATTTCTGCCG	0.458000													79	132					0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139313516	139313516	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:139313516C>T	ENST00000371717.3	+	11	1230	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	PMPCA_ENST00000399219.3_Silent_p.I276I|PMPCA_ENST00000462616.1_3'UTR	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	407					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGGTAGAAATCATCACAAAGG	0.562000													26	21					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34671594	34671594	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:34671594C>T	ENST00000374789.3	-	9	1598	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T	PARD3_ENST00000545260.1_Missense_Mutation_p.A381T|PARD3_ENST00000350537.4_Missense_Mutation_p.A425T|PARD3_ENST00000374790.3_Missense_Mutation_p.A381T|PARD3_ENST00000544292.1_Missense_Mutation_p.A155T|PARD3_ENST00000340077.5_Missense_Mutation_p.A425T|PARD3_ENST00000374794.3_Missense_Mutation_p.A381T|PARD3_ENST00000374773.1_Missense_Mutation_p.A425T|PARD3_ENST00000374788.3_Missense_Mutation_p.A425T|PARD3_ENST00000545693.1_Missense_Mutation_p.A425T|PARD3_ENST00000374776.1_Missense_Mutation_p.A425T|PARD3_ENST00000346874.4_Missense_Mutation_p.A425T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	425					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GAGGGGTGTGCGCTATGAGGT	0.527000													9	65					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48577374	48577374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:48577374G>T	ENST00000396577.3	+	21	2772	c.2557G>T	c.(2557-2559)Gaa>Taa	p.E853*	SLC12A1_ENST00000558405.1_Nonsense_Mutation_p.E853*|SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.E853*	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	853					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGTGAAGAGGAAAGTGGAGG	0.363000													45	70					7.05377e-20	7.15735e-20	1	1	0
ZNF597	146434	broad.mit.edu	37	16	3486500	3486500	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:3486500G>A	ENST00000301744.4	-	4	1434	c.1199C>T	c.(1198-1200)aCc>aTc	p.T400I	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CCCACACACGGTACATTTAAA	0.393000													15	24					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188158	152188158	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:152188158C>T	ENST00000368801.2	-	3	6022	c.5947G>A	c.(5947-5949)Ggc>Agc	p.G1983S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1983					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCGGAGCCAGACTCATAT	0.587000													43	478					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44130945	44130945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:44130945C>T	ENST00000222374.2	-	4	538	c.490G>A	c.(490-492)Gag>Aag	p.E164K		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	164	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CCTTTCAGCTCCTTGCGGTCC	0.642000													62	103					0	0	1	0	0
LUZP4	51213	broad.mit.edu	37	X	114536577	114536577	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:114536577G>A	ENST00000371920.3	+	2	119	c.112G>A	c.(112-114)Gag>Aag	p.E38K	LUZP4_ENST00000451986.2_5'UTR	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	38						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AATCTATAAAGAGTTAGAAGG	0.308000													40	73					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9457363	9457363	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:9457363G>A	ENST00000378501.2	+	35	3474		c.e35-1		PLCB4_ENST00000278655.4_Intron|PLCB4_ENST00000414679.2_Intron|PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000378493.1_Intron	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGTACAAACAGCTTTTGAAAT	0.358000													9	13					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193077	28193077	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr22:28193077G>A	ENST00000302326.4	-	1	4409	c.3455C>T	c.(3454-3456)cCc>cTc	p.P1152L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1152							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GATCTCCAGGGGGTGGATCTC	0.706000			T	ETV6	"""AML, meningioma"""								7	13					0	0	1	0	0
AGPAT4	56895	broad.mit.edu	37	6	161557644	161557644	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:161557644C>T	ENST00000320285.4	-	9	1277	c.1065G>A	c.(1063-1065)atG>atA	p.M355I	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.M193I	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	355					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TCACACCAATCATCCATCGAA	0.532000													22	36					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387879	46387879	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:46387879G>A	ENST00000302165.3	-	1	1497	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTCCGGCTCGGGGGATGCCTT	0.741000													17	18					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468816	10468816	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:10468816C>T	ENST00000382483.3	-	4	3015	c.2792G>A	c.(2791-2793)gGg>gAg	p.G931E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	931					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGCCTCCCCCACTCCTCAA	0.667000													15	34					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284407	223284407	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:223284407G>A	ENST00000540964.1	-	4	2428	c.1967C>T	c.(1966-1968)aCc>aTc	p.T656I	TLR5_ENST00000342210.6_Missense_Mutation_p.T656I			O60602	TLR5_HUMAN	toll-like receptor 5	656			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGTGAGGATGGTCATGAGGAA	0.468000													27	35					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8486293	8486293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:8486293G>A	ENST00000381196.4	-	25	3067	c.2524C>T	c.(2524-2526)Cag>Tag	p.Q842*	PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q829*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q842*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q820*|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q842*|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	842	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGTGCCACTGAATAAGAGCA	0.493000										TSP Lung(15;0.13)			36	9					0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100185200	100185200	+	Missense_Mutation	SNP	C	C	T	rs149529384		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:100185200C>T	ENST00000414213.1	-	10	1611	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	FRRS1_ENST00000287474.5_Missense_Mutation_p.R337Q			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	337	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CTTGTAAATTCGACCTGCAAA	0.358000													17	36					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532058	92532058	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:92532058G>A	ENST00000298047.6	+	9	5896	c.5879G>A	c.(5878-5880)gGa>gAa	p.G1960E	FAT3_ENST00000409404.2_Missense_Mutation_p.G1960E|FAT3_ENST00000525166.1_Missense_Mutation_p.G1810E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1960	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGTCTGATGGAAAGTTCTAC	0.413000										TCGA Ovarian(4;0.039)			40	29					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212812260	212812260	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:212812260G>A	ENST00000342788.4	-	3	626	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	ERBB4_ENST00000436443.1_Missense_Mutation_p.R106C|ERBB4_ENST00000402597.1_Missense_Mutation_p.R106C|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	106					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTTGTCCCACGAATAATGCGT	0.383000										TSP Lung(8;0.080)			19	19					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042197	73042197	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:73042197G>A	ENST00000604411.1	+	0	30158				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TGTTATTTAGGGACTAAGCCA	0.443000													7	3					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2150220	2150220	+	Missense_Mutation	SNP	G	G	A	rs144246138		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:2150220G>A	ENST00000262304.4	-	28	9867	c.9659C>T	c.(9658-9660)tCg>tTg	p.S3220L	PKD1_ENST00000423118.1_Missense_Mutation_p.S3220L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3220	PLAT.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCTCCACCGAAAGCCAGTC	0.652000													21	115					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35759725	35759725	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:35759725G>A	ENST00000440995.2	+	25	3509	c.3509G>A	c.(3508-3510)gGa>gAa	p.G1170E	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.G1175E			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1175					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATTACTGGGGAATGGAAAGT	0.383000													44	71					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139838948	139838948	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:139838948C>T	ENST00000303045.6	-	6	1368	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	COL22A1_ENST00000435777.1_Missense_Mutation_p.E308K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	308	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TACCAGTCTTCCTTCCGAGAG	0.507000										HNSCC(7;0.00092)			30	44					0	0	1	0	0
C1orf192	257177	broad.mit.edu	37	1	161335374	161335374	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:161335374T>G	ENST00000367974.1	-	4	295	c.290A>C	c.(289-291)cAg>cCg	p.Q97P		NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	97										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGATTTTTCTGTATCCATTT	0.502000													74	98					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14620503	14620503	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:14620503G>A	ENST00000403951.2	-	19	2015	c.1596C>T	c.(1594-1596)tgC>tgT	p.C532C	DGKB_ENST00000407950.1_Silent_p.C524C|DGKB_ENST00000258767.5_Silent_p.C532C|DGKB_ENST00000406247.3_Silent_p.C532C|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.C532C|DGKB_ENST00000402815.1_Silent_p.C531C|DGKB_ENST00000444700.2_Silent_p.C513C			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	532	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CCCATCGCAGGCATCTTGCTA	0.418000													15	28					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128643452	128643452	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:128643452G>A	ENST00000368227.3	-	3	593	c.227C>T	c.(226-228)tCc>tTc	p.S76F	PTPRK_ENST00000368210.3_Missense_Mutation_p.S76F|PTPRK_ENST00000368215.3_Missense_Mutation_p.S76F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S76F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.S76F|PTPRK_ENST00000368213.5_Missense_Mutation_p.S76F|PTPRK_ENST00000525459.1_Missense_Mutation_p.S76F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S76F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	76	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TATCATATAGGAACCTGAAAT	0.353000													31	58					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57687991	57687991	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:57687991G>C	ENST00000562631.1	+	5	1246	c.714G>C	c.(712-714)tgG>tgC	p.W238C	GPR56_ENST00000567835.1_Missense_Mutation_p.W238C|GPR56_ENST00000544297.1_Missense_Mutation_p.W63C|GPR56_ENST00000379696.3_Missense_Mutation_p.W238C|GPR56_ENST00000540164.2_Missense_Mutation_p.W238C|GPR56_ENST00000568909.1_Missense_Mutation_p.W238C|GPR56_ENST00000562558.1_Missense_Mutation_p.W238C|GPR56_ENST00000568908.1_Missense_Mutation_p.W238C|GPR56_ENST00000538815.1_Missense_Mutation_p.W238C|GPR56_ENST00000388813.5_Missense_Mutation_p.W238C|GPR56_ENST00000379694.4_Missense_Mutation_p.W68C|GPR56_ENST00000388812.4_Missense_Mutation_p.W238C|GPR56_ENST00000456916.1_Missense_Mutation_p.W238C			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	238					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCACGGTGTGGAAGCTCCAGC	0.652000													12	35					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488780	20488780	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:20488780G>A	ENST00000555186.1	+	0	263					NR_038836.1																						AAGATTTTGGGAGAGACCTCT	0.413000													23	220					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36871055	36871055	+	Splice_Site	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:36871055C>T	ENST00000429976.2	-	22	8924	c.8677_splice	c.e22+1	p.G2893_splice	TRANK1_ENST00000301807.6_Splice_Site_p.G2343_splice|TRANK1_ENST00000428977.2_Splice_Site_p.G2343_splice			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2893					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GACTCCTTACCTTCCTTCTTT	0.532000													18	32					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158896490	158896490	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:158896490G>A	ENST00000262178.2	-	4	500	c.315C>T	c.(313-315)ttC>ttT	p.F105F	VIPR2_ENST00000402066.1_Silent_p.F246F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	105					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AGGCATCGACGAAATCTGGGA	0.498000													32	53					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347149	71347149	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:71347149G>A	ENST00000413702.1	+	4	976	c.688G>A	c.(688-690)Gct>Act	p.A230T	MUC7_ENST00000304887.5_Missense_Mutation_p.A230T|MUC7_ENST00000456088.1_Missense_Mutation_p.A230T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	230	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ATCTTCCTCAGCTCCACCAGA	0.587000													98	129					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19257566	19257566	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:19257566C>T	ENST00000602424.2	-	8	1386	c.660G>A	c.(658-660)ggG>ggA	p.G220G	MEF2B_ENST00000409224.1_Silent_p.G223G|MEF2B_ENST00000162023.5_Silent_p.G220G|MEF2B_ENST00000410050.1_Silent_p.G220G|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.G237G|MEF2B_ENST00000409447.2_Intron|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.G220G|MEF2B_ENST00000424583.2_Silent_p.G220G	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TGTTTAGTCCCCCTCGGGGCC	0.662000													15	26					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088080	92088080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:92088080C>T	ENST00000256343.3	-	19	2288	c.2132G>A	c.(2131-2133)tGg>tAg	p.W711*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	711					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATATATTTTCCATGTTCGTCC	0.368000													32	59					0	0	1	0	0
SSR2	6746	broad.mit.edu	37	1	155988122	155988122	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:155988122G>A	ENST00000295702.4	-	3	264	c.193C>T	c.(193-195)Cct>Tct	p.P65S	SSR2_ENST00000496742.1_Intron|SSR2_ENST00000480567.1_Missense_Mutation_p.P65S|SSR2_ENST00000529008.1_Missense_Mutation_p.P65S	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	65					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTTCTGGAGGGAAGGAATCA	0.463000													22	25					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784754	9784754	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:9784754G>A	ENST00000304374.2	+	1	1497	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	367					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACTTTCAGAAGGTGTTTGCCC	0.577000													36	37					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32422814	32422814	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:32422814T>A	ENST00000282587.5	+	10	621	c.584T>A	c.(583-585)cTt>cAt	p.L195H	SLC30A6_ENST00000538303.1_Missense_Mutation_p.L166H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L195H|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000406369.1_Missense_Mutation_p.L121H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L235H	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	195						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGTATCTTCCTTCCCCGAATG	0.348000													38	49					0	0	1	0	0
AMD1	262	broad.mit.edu	37	6	111213950	111213950	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:111213950C>T	ENST00000368885.3	+	7	964	c.628C>T	c.(628-630)Cgt>Tgt	p.R210C	AMD1_ENST00000451850.2_Missense_Mutation_p.R90C|AMD1_ENST00000368882.3_Missense_Mutation_p.R62C|AMD1_ENST00000368877.5_Missense_Mutation_p.R181C|AMD1_ENST00000368876.1_Missense_Mutation_p.R141C	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	210					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GAGTGGAATTCGTGACCTGAT	0.428000													34	42					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113173608	113173608	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr9:113173608C>T	ENST00000401783.2	-	37	6719	c.6383G>A	c.(6382-6384)aGa>aAa	p.R2128K	SVEP1_ENST00000374469.1_Missense_Mutation_p.R2105K|SVEP1_ENST00000297826.5_Missense_Mutation_p.R54K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2128	Sushi 12.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGCCCACCTCTCATACATTC	0.488000													24	14					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73330618	73330618	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:73330618G>A	ENST00000224721.6	+	7	716	c.711G>A	c.(709-711)atG>atA	p.M237I	CDH23_ENST00000299366.7_Missense_Mutation_p.M277I|CDH23_ENST00000461841.3_Missense_Mutation_p.M277I|CDH23_ENST00000398809.4_Missense_Mutation_p.M232I|CDH23_ENST00000398842.3_Missense_Mutation_p.M232I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	232	Cadherin 3.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCAGGACATGGACCCCATCT	0.532000											OREG0020254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	24					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9226302	9226302	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:9226302G>A	ENST00000293614.1	-	1	137	c.138C>T	c.(136-138)ctC>ctT	p.L46L	OR7G1_ENST00000541538.1_Silent_p.L46L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L46L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TGACAGCCAGGAGAATGAGCA	0.488000													36	126					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874981	36874981	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:36874981C>T	ENST00000429976.2	-	21	6208	c.5961G>A	c.(5959-5961)gaG>gaA	p.E1987E	TRANK1_ENST00000301807.6_Silent_p.E1437E|TRANK1_ENST00000428977.2_Silent_p.E1437E			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1987					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAAGTGGGCCTCCGCAATGC	0.507000													11	18					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076362	93076362	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:93076362G>A	ENST00000510627.4	-	1	981	c.908C>T	c.(907-909)cCc>cTc	p.P303L	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	303						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TGTATAGTGGGGGATATCCAC	0.612000													26	24					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236189429	236189429	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:236189429G>A	ENST00000264187.6	-	8	1833	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	NID1_ENST00000366595.3_Missense_Mutation_p.S584F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	584	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCGGGTGGAGGAGGAAGTGAT	0.557000													6	38					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182647	133182647	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:133182647G>A	ENST00000388996.4	-	8	1589	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P390L|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P270L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	390					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AATCCTGTTGGGGTTGGTAGC	0.527000													11	24					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324783	3324783	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:3324783G>A	ENST00000291231.1	+	1	922	c.922G>A	c.(922-924)Ggc>Agc	p.G308S		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TGATGTTCAGGGCGCTCTGTG	0.493000													46	48					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53674496	53674496	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:53674496C>T	ENST00000342160.3	-	5	623	c.166G>A	c.(166-168)Gac>Aac	p.D56N	HUWE1_ENST00000218328.8_Missense_Mutation_p.D56N|HUWE1_ENST00000262854.6_Missense_Mutation_p.D56N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	56					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCAACAGGTCCACCCAGTGA	0.483000													58	81					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694905	219694905	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:219694905C>T	ENST00000439262.2	-	4	449	c.354G>A	c.(352-354)gaG>gaA	p.E118E	PRKAG3_ENST00000392098.3_Silent_p.E143E|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000529249.1_Silent_p.E143E	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	143					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCCCAGGCCTCTGTGGCTG	0.637000													24	37					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35778720	35778720	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:35778720A>C	ENST00000187397.4	+	16	1966	c.1510A>C	c.(1510-1512)Acc>Ccc	p.T504P	ARPP21_ENST00000444190.1_Missense_Mutation_p.T450P|ARPP21_ENST00000417925.1_Missense_Mutation_p.T470P|ARPP21_ENST00000458225.1_Missense_Mutation_p.T470P|ARPP21_ENST00000337271.5_Missense_Mutation_p.T450P	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	504						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAACCCACCCACCAGTCAGCA	0.587000													42	70					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275679	71275679	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:71275679C>T	ENST00000399575.2	+	3	808	c.634C>T	c.(634-636)Cct>Tct	p.P212S		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	212	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CGCCAACCGTCCTCACACAGT	0.453000													37	84					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101592063	101592063	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:101592063C>A	ENST00000284395.5	+	25	3978	c.3578C>A	c.(3577-3579)aCg>aAg	p.T1193K	LRRK1_ENST00000388948.3_Missense_Mutation_p.T1196K|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1196					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTGTCCTGACGGCCATCGAG	0.637000													30	34					7.26314e-15	7.35899e-15	1	1	0
SEPT6	23157	broad.mit.edu	37	X	118767428	118767428	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:118767428C>T	ENST00000394610.1	-	8	1248	c.984G>A	c.(982-984)agG>agA	p.R328R	SEPT6_ENST00000489216.1_Silent_p.R328R|SEPT6_ENST00000394616.4_Silent_p.R270R|SEPT6_ENST00000394617.2_Silent_p.R358R|SEPT6_ENST00000343984.5_Silent_p.R328R|SEPT6_ENST00000354228.4_Silent_p.R328R|SEPT6_ENST00000360156.7_Silent_p.R328R|SEPT6_ENST00000354416.3_Silent_p.R328R	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	328					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.R328R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GGAACTCGTTCCTTTTGGCCT	0.448000			T	MLL	AML								75	124					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13367344	13367344	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:13367344G>A	ENST00000254508.5	-	33	4677	c.4595C>T	c.(4594-4596)tCc>tTc	p.S1532F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1532					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AACCGTCACGGATCCCACGGC	0.642000													46	85					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103906742	103906742	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:103906742C>T	ENST00000278070.2	+	9	4032	c.3993C>T	c.(3991-3993)atC>atT	p.I1331I	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Silent_p.I298I	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ACATCACCATCAAACCTGTCT	0.597000													10	31					0	0	1	0	0
SKAP2	8935	broad.mit.edu	37	7	26883681	26883681	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:26883681C>T	ENST00000345317.2	-	4	588	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	92					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TTTATCATATCGTTCTGAGGC	0.403000													60	95					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000394968.1_Silent_p.T89T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000													17	29					0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11727949	11727949	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:11727949C>T	ENST00000361113.5	+	4	839	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CAGTTTATTTCGTATACATGA	0.398000													20	34					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1339598	1339598	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:1339598G>A	ENST00000446702.2	+	7	1311	c.684G>A	c.(682-684)aaG>aaA	p.K228K	CNTN6_ENST00000350110.2_Silent_p.K228K|CNTN6_ENST00000539053.1_Silent_p.K156K			Q9UQ52	CNTN6_HUMAN	contactin 6	228	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATGAACCAAAGATTGAAGTGC	0.348000													31	73					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406253	3406253	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:3406253C>T	ENST00000304936.2	+	1	365	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTATGTCTTCCTTTGGCTGGG	0.567000													22	35					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176594872	176594872	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:176594872C>T	ENST00000280187.7	-	4	391	c.346G>A	c.(346-348)Gat>Aat	p.D116N	GPM6A_ENST00000515090.1_Missense_Mutation_p.D109N|GPM6A_ENST00000506894.1_Missense_Mutation_p.D105N|GPM6A_ENST00000393658.2_Missense_Mutation_p.D116N	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	116						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATTTTGAAATCCCCATAGAGA	0.438000													20	31					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171358304	171358304	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:171358304G>A	ENST00000334231.6	+	28	3326	c.3326G>A	c.(3325-3327)gGa>gAa	p.G1109E	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Intron|MYO3B_ENST00000408978.4_Missense_Mutation_p.G1100E			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1100	IQ 2.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCCTGGAGAGGATATGATGCT	0.378000													15	29					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17322820	17322820	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:17322820C>T	ENST00000594824.1	+	40	6322	c.6175C>T	c.(6175-6177)Ccc>Tcc	p.P2059S	MYO9B_ENST00000595618.1_3'UTR|MYO9B_ENST00000397274.2_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2059	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGTGAAGACCCCCCGGCGGAC	0.736000													8	11					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916065	97916065	+	RNA	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:97916065T>A	ENST00000534948.1	+	0	843							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAATTGGGACTTTTTTGGTTA	0.289000													29	27					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931517	150931517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:150931517C>T	ENST00000309170.3	-	3	900	c.588G>A	c.(586-588)tgG>tgA	p.W196*	P2RY14_ENST00000424796.2_Nonsense_Mutation_p.W196*|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	196						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAAACACAATCCAGAAGATGG	0.383000													36	64					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55530916	55530916	+	Silent	SNP	G	G	A	rs150310143	byFrequency	TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:55530916G>A	ENST00000219070.4	+	10	2060	c.1551G>A	c.(1549-1551)ccG>ccA	p.P517P	MMP2_ENST00000570308.1_Silent_p.P441P|MMP2_ENST00000543485.1_Silent_p.P441P|MMP2_ENST00000437642.2_Silent_p.P467P	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	517	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CTGAGCTCCCGGAAAAGATTG	0.617000													17	57					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10279986	10279986	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:10279986C>T	ENST00000254976.2	+	7	689	c.478C>T	c.(478-480)Ctc>Ttc	p.L160F	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.L160F|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	160	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	CATCGGGAACCTCCGTCACAT	0.502000													43	75					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159856305	159856305	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:159856305T>C	ENST00000426543.2	-	6	963	c.508A>G	c.(508-510)Att>Gtt	p.I170V	CCDC19_ENST00000368099.4_Missense_Mutation_p.I255V|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	255						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTTTACCTAATTCTTTCCTCC	0.468000													62	87					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172607409	172607409	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:172607409C>T	ENST00000351008.3	-	11	1844	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	554					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTTTTGCCTTCGAGCAGTTCT	0.378000													43	66					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11701013	11701013	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:11701013G>A	ENST00000262442.3	+	43	8391	c.8323G>A	c.(8323-8325)Gaa>Aaa	p.E2775K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2775K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2775					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAGTCTTGGGAACTTTTGAC	0.493000													12	25					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61524287	61524287	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:61524287C>T	ENST00000266070.4	-	13	3454	c.3129G>A	c.(3127-3129)gaG>gaA	p.E1043E	DIDO1_ENST00000395340.1_Silent_p.E1043E|DIDO1_ENST00000395335.2_Silent_p.E1043E|DIDO1_ENST00000395343.1_Silent_p.E1043E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1043					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGTGTCTCCCTCTGGAGGGG	0.403000													19	37					0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145895521	145895521	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:145895521C>T	ENST00000311104.2	-	1	232	c.156G>A	c.(154-156)gtG>gtA	p.V52V		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	52						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGGTTTCCCACGAAGCCCA	0.552000													47	19					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38528884	38528884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:38528884C>T	ENST00000263409.4	-	3	363	c.201G>A	c.(199-201)tgG>tgA	p.W67*	LIFR_ENST00000453190.2_Nonsense_Mutation_p.W67*|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	67	Fibronectin type-III 1.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGGGTGCTTTCCAAGAACAGT	0.413000			T	PLAG1	salivary adenoma								4	8					0	0	1	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45847976	45847976	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr15:45847976G>A	ENST00000409454.1	+	0	971																											AGCCACAGCCGAAGCCCAGAA	0.488000													20	43					0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104777761	104777761	+	RNA	SNP	A	A	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:104777761A>C	ENST00000532510.1	-	0	1671																											TGCAAACTGCATCCTCCAGGT	0.458000													7	0					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256531	115256531	+	Silent	SNP	T	T	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:115256531T>C	ENST00000369535.4	-	3	433	c.180A>G	c.(178-180)ggA>ggG	p.G60G		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	60			G -> E (in NS6; hypermorphic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(4)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTCTTCTTGTCCAGCTGTAT	0.463000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			41	101					0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122254176	122254176	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr4:122254176G>A	ENST00000394427.2	-	4	1008	c.597C>T	c.(595-597)atC>atT	p.I199I	QRFPR_ENST00000334383.5_Silent_p.I199I	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	199						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CTAAGCAGCAGATGTGTTCCT	0.398000													4	67					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19476152	19476152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:19476152C>T	ENST00000436810.2	+	14	1412	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	SLC47A1_ENST00000395585.1_Silent_p.L488L|SLC47A1_ENST00000575023.1_Silent_p.L186L|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000457293.1_Silent_p.L488L|SLC47A1_ENST00000270570.4_Silent_p.L488L			Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	0						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ATTCTGCTCTCCCTCAGGATC	0.512000													23	24					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63316496	63316496	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr14:63316496G>A	ENST00000322893.7	-	8	1712	c.1444C>T	c.(1444-1446)Cat>Tat	p.H482Y	KCNH5_ENST00000420622.2_Missense_Mutation_p.H482Y|KCNH5_ENST00000394968.1_Missense_Mutation_p.H424Y	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	482					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGCATCTCATGGTATCGGTTG	0.373000													22	46					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833420	125833420	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:125833420G>A	ENST00000393434.2	-	18	2411	c.2062C>T	c.(2062-2064)Ctc>Ttc	p.L688F	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L688F|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L587F|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L698F|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	688	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCTTGTTGAGGTCACAGTCA	0.597000													29	57					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	607077	607077	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:607077T>A	ENST00000264555.5	+	14	1749	c.1621T>A	c.(1621-1623)Ttt>Att	p.F541I	PHRF1_ENST00000416188.2_Missense_Mutation_p.F540I|PHRF1_ENST00000413872.2_Missense_Mutation_p.F539I|PHRF1_ENST00000533464.1_Missense_Mutation_p.F537I	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	541							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCAGTTTCTTTTCAGCGAAA	0.498000													3	46					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179081458	179081458	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:179081458G>C	ENST00000502732.1	-	10	1840	c.1637C>G	c.(1636-1638)tCc>tGc	p.S546C	ABL2_ENST00000504405.1_Missense_Mutation_p.S510C|ABL2_ENST00000367623.4_Missense_Mutation_p.S525C|ABL2_ENST00000392043.3_Missense_Mutation_p.S525C|ABL2_ENST00000408940.3_Missense_Mutation_p.S510C|ABL2_ENST00000344730.3_Missense_Mutation_p.S531C|ABL2_ENST00000507173.1_Missense_Mutation_p.S525C|ABL2_ENST00000511413.1_Missense_Mutation_p.S546C|ABL2_ENST00000512653.1_Missense_Mutation_p.S531C	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	546					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGAAATGCTGGAGTCATGGAA	0.408000			T	ETV6	AML								8	26					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31600687	31600687	+	Silent	SNP	A	A	G			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr20:31600687A>G	ENST00000170150.3	+	4	477	c.282A>G	c.(280-282)gcA>gcG	p.A94A		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	94						extracellular region	lipid binding										TGCTGGCAGCAGCTAATTTTA	0.547000													55	96					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61166520	61166520	+	Splice_Site	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr18:61166520G>A	ENST00000382771.4	+	6	1027	c.735_splice	c.e6+1	p.K245_splice	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	245				K -> Q (in Ref. 5; CAE45703).	cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GCTTGGAGAAGGTAAGGAGAA	0.522000													8	21					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149375253	149375253	+	RNA	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:149375253G>A	ENST00000415338.1	-	0	1061																											ACTGTGAAAGGTATTGTATTG	0.403000													19	48					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861700	55861700	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr11:55861700G>A	ENST00000302124.2	+	1	948	c.917G>A	c.(916-918)aGa>aAa	p.R306K	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTCATACATAGAAAACTTTTT	0.353000													5	13					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32933082	32933082	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:32933082C>T	ENST00000383763.4	+	4	2449	c.2386C>T	c.(2386-2388)Cgc>Tgc	p.R796C		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	796					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGTTCCTGCGCCCACAAGG	0.592000													48	56					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72959133	72959133	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:72959133G>A	ENST00000425042.2	-	4	508	c.431C>T	c.(430-432)tCc>tTc	p.S144F	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1			HID1 domain containing																		CAGGAGCAGGGACTCGGCCAG	0.657000													12	18					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200944728	200944728	+	Missense_Mutation	SNP	C	C	T	rs144049379		TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:200944728C>T	ENST00000332129.2	-	32	4790	c.4474G>A	c.(4474-4476)Gat>Aat	p.D1492N	KIF21B_ENST00000360529.5_Missense_Mutation_p.D1492N|KIF21B_ENST00000422435.2_Missense_Mutation_p.D1505N|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1505N	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1505					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCGATGCCATCGTAGTGCGGG	0.612000													23	23					0	0	1	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77529009	77529009	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chrX:77529009G>A	ENST00000373304.3	-	3	527	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	79					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TAGACCACACGGAGAGGCAGT	0.423000													24	24					0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52455730	52455730	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr3:52455730C>T	ENST00000327906.3	+	8	1300	c.640C>T	c.(640-642)Cct>Tct	p.P214S	PHF7_ENST00000478707.1_Missense_Mutation_p.P214S|PHF7_ENST00000347025.2_Missense_Mutation_p.P214S	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	214						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AAAAGAGTTTCCTCAAGAAAT	0.438000													23	37					0	0	1	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881427	111881427	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:111881427C>T	ENST00000393256.3	+	2	378	c.105C>T	c.(103-105)tcC>tcT	p.S35S	BCL2L11_ENST00000405953.1_Silent_p.S35S|BCL2L11_ENST00000308659.8_Silent_p.S35S|BCL2L11_ENST00000393253.2_Silent_p.S35S|BCL2L11_ENST00000357757.2_Silent_p.S35S|BCL2L11_ENST00000337565.5_Silent_p.S35S	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	35					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CCCCTACCTCCCTACAGACAG	0.612000													25	45					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773798	140773798	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:140773798C>T	ENST00000398604.2	+	1	1418	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCATCTTTTCCTTGACTGCA	0.562000													18	4					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071483	53071483	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr8:53071483T>C	ENST00000276480.7	-	15	2464	c.1781A>G	c.(1780-1782)aAc>aGc	p.N594S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	594						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGTGGCTTGTTGGAGAGGAT	0.542000													62	83					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48605561	48605561	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:48605561C>T	ENST00000323776.5	+	16	2628	c.2466C>T	c.(2464-2466)tcC>tcT	p.S822S	MYCBPAP_ENST00000436259.2_Silent_p.S785S	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	785					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGGGCCATTCCATGTGGCTGA	0.522000													7	22					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4577948	4577948	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:4577948C>T	ENST00000301396.4	-	13	2096	c.1871G>A	c.(1870-1872)gGg>gAg	p.G624E	PELP1_ENST00000572293.1_Missense_Mutation_p.G530E|PELP1_ENST00000436683.2_Missense_Mutation_p.G333E|PELP1_ENST00000574876.1_Missense_Mutation_p.G480E|PELP1_ENST00000269230.7_Missense_Mutation_p.G478E			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	480					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						ATCAGGGCTCCCCCGCGGGCT	0.587000													13	23					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891381	18891381	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:18891381C>T	ENST00000317658.3	+	1	337	c.179C>T	c.(178-180)tCt>tTt	p.S60F		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	60					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.S60Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CAAAAATATTCTGTACCACTC	0.418000													30	41					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65346688	65346688	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr5:65346688C>T	ENST00000284037.5	+	20	2370	c.1981C>T	c.(1981-1983)Cca>Tca	p.P661S	ERBB2IP_ENST00000380938.2_Missense_Mutation_p.P661S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.P661S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.P661S|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.P661S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.P661S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.P661S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.P657S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.P661S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	661					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTGTTCTTCTCCATCTCGGAT	0.333000													20	35					0	0	1	0	0
MIEF2	125170	broad.mit.edu	37	17	18168060	18168060	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr17:18168060G>A	ENST00000323019.4	+	4	1558	c.1347G>A	c.(1345-1347)gaG>gaA	p.E449E	SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_Silent_p.E460E	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		449						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GCCTACAGGAGCCCGAGGGGC	0.572000													30	45					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139095027	139095027	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:139095027C>T	ENST00000332797.6	+	1	371	c.216C>T	c.(214-216)acC>acT	p.T72T		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	72										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GCCCCAATACCCTTCTTCTTC	0.627000													50	64					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17373552	17373552	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr7:17373552G>A	ENST00000242057.4	+	7	1365	c.722G>A	c.(721-723)gGg>gAg	p.G241E		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	241					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AATTTCCAAGGGAAGTTAAAG	0.353000													21	37					0	0	1	0	0
RAB35	11021	broad.mit.edu	37	12	120536876	120536876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr12:120536876G>A	ENST00000229340.5	-	4	498	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	RAB35_ENST00000534951.1_Missense_Mutation_p.H104Y|RAB35_ENST00000432953.2_5'UTR|RAB35_ENST00000543364.1_5'UTR	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	104					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		TTGATTTCGTGAAGCCACCGC	0.592000													38	43					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524937	112524937	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr1:112524937C>T	ENST00000369697.1	-	1	481	c.412G>A	c.(412-414)Gac>Aac	p.D138N	KCND3_ENST00000315987.2_Missense_Mutation_p.D138N|KCND3_ENST00000302127.4_Missense_Mutation_p.D138N			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	138						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCTTGCGGTCCTTGTACTCC	0.622000													20	46					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38879280	38879280	+	Silent	SNP	C	C	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr6:38879280C>T	ENST00000359357.3	+	64	9380	c.9126C>T	c.(9124-9126)taC>taT	p.Y3042Y	DNAH8_ENST00000449981.2_Silent_p.Y3259Y|DNAH8_ENST00000441566.1_Silent_p.Y3006Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCAAATCTTACCTCTCATTTA	0.373000													10	36					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731240	45731240	+	Silent	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:45731240G>A	ENST00000413988.1	-	4	325	c.285C>T	c.(283-285)ttC>ttT	p.F95F	EXOC3L2_ENST00000252482.3_Silent_p.F95F	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	95										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		ACCTCTGCAGGAACTCTGCCA	0.622000													11	22					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43871819	43871819	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr2:43871819G>T	ENST00000282406.4	+	2	117	c.7G>T	c.(7-9)Gag>Tag	p.E3*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	3						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAATATGGCAGAGCTTTCTGA	0.318000													4	9					0.150653	0.150653	1	1	0
APBA3	9546	broad.mit.edu	37	19	3760036	3760036	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr19:3760036G>A	ENST00000316757.3	-	2	427	c.227C>T	c.(226-228)cCa>cTa	p.P76L		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	76					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCCACCTGGGGATGGGCC	0.647000													34	45					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72285869	72285882	+	Frame_Shift_Del	DEL	CAAGGTGGCCCCTG	CAAGGTGGCCCCTG	-			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr10:72285869_72285882delCAAGGTGGCCCCTG	ENST00000263563.6	+	2	430_443	c.162_175delCAAGGTGGCCCCTG	c.(160-177)aattfs	p.NKVAPV54fs		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.A57E(1)									TCATCCCCAACAAGGTGGCCCCTGTTGTGATCAC	0.593													8	30	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81134589	81134589	+	RNA	DEL	T	T	-			TCGA-EB-A4XL-01A-11D-A27K-08	TCGA-EB-A4XL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2dd691a-b7ea-4bfe-a438-1826c920f570	4ad849cd-8779-494d-b84c-80ef598d5828	g.chr16:81134589delT	ENST00000533478.1	-	0	5573				PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTTATTGTAATTTTTTTTACT	0.363													3	4	---	---	---	---