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
CYP4F3	4051	broad.mit.edu	37	19	15752390	15752390	+	Silent	SNP	G	G	A	rs150573744	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:15752390G>A	ENST00000221307.7	+	2	213	c.165G>A	c.(163-165)ccG>ccA	p.P55P	CYP4F3_ENST00000586182.1_Silent_p.P55P|CYP4F3_ENST00000585846.1_Silent_p.P55P|CYP4F3_ENST00000591058.1_Silent_p.P55P	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	55					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGCAACCCCCGAAACGGAATT	0.617000													29	41					0	0	0.001786	0	0
KIAA1432	57589	broad.mit.edu	37	9	5772613	5772613	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:5772613C>T	ENST00000414202.2	+	24	3857	c.3666C>T	c.(3664-3666)tcC>tcT	p.S1222S	KIAA1432_ENST00000418622.3_Silent_p.S1143S|KIAA1432_ENST00000449720.2_Silent_p.S1106S	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1222						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AAAGTAGCTCCATGGTGGATG	0.428000													20	6					0	0	0.001523	0	0
IQCA1	79781	broad.mit.edu	37	2	237396737	237396737	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:237396737T>C	ENST00000409907.3	-	4	828	c.554A>G	c.(553-555)aAg>aGg	p.K185R	IQCA1_ENST00000309507.5_Missense_Mutation_p.K181R|IQCA1_ENST00000431676.2_Missense_Mutation_p.K185R			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	185							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATAGATTTGCTTCATGAATAA	0.453000													4	6					0	0	0.000602	0	0
RPN2	6185	broad.mit.edu	37	20	35833181	35833181	+	Silent	SNP	T	T	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:35833181T>G	ENST00000237530.6	+	6	878	c.567T>G	c.(565-567)gcT>gcG	p.A189A	RPN2_ENST00000373622.5_Silent_p.A157A	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	189					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				ACCTTGTTGCTCGCCTGGATG	0.488000													63	65					0	0	0.003610	0	0
CALR3	125972	broad.mit.edu	37	19	16590073	16590073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:16590073C>T	ENST00000269881.3	-	9	1086	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	342	C-domain.|Glu/Lys-rich.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						GCATCCATCTCCCTTTCTGGA	0.532000													29	52					0	0	0.008361	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:82544905G>A	ENST00000423517.2	-	7	12734	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCCTCTACGAAATTCCTGT	0.408000													38	41					0	0	0.004878	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789847	133789847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:133789847G>A	ENST00000321016.8	-	18	4003	c.3773C>T	c.(3772-3774)cCc>cTc	p.P1258L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1258L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1258	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTCTGGGAGGGGGAGCCTGT	0.692000													5	33					0	0	0.001168	0	0
ADAP2	55803	broad.mit.edu	37	17	29261253	29261253	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:29261253C>T	ENST00000330889.3	+	5	783	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	ADAP2_ENST00000580525.1_Silent_p.L156L	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	150	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CTCACAGTTTCTGAGAAGGAA	0.483000													20	29					0	0	0.002780	0	0
ACOX2	8309	broad.mit.edu	37	3	58517093	58517093	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:58517093C>T	ENST00000302819.5	-	7	995	c.703_splice	c.e7-1	p.G235_splice	ACOX2_ENST00000459701.2_Splice_Site_p.G235_splice	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	235					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AATGATGATTCCTTGAAGGAG	0.507000													14	28					0	0	0.002450	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654804	8654804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:8654804C>T	ENST00000595838.1	-	3	374	c.341G>A	c.(340-342)gGa>gAa	p.G114E	ADAMTS10_ENST00000270328.4_Silent_p.G623G|ADAMTS10_ENST00000597188.1_Silent_p.G623G			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	0					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGTAGAATTTCCCACGGAAAG	0.587000													21	44					0	0	0.002299	0	0
OR2F2	135948	broad.mit.edu	37	7	143633082	143633082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:143633082G>A	ENST00000408955.2	+	1	824	c.757G>A	c.(757-759)Ggc>Agc	p.G253S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCTGTGCTACGGCACAACGAT	0.512000													75	11					0	0	0.003610	0	0
ABCA6	23460	broad.mit.edu	37	17	67109458	67109458	+	Missense_Mutation	SNP	G	G	A	rs34123357		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:67109458G>A	ENST00000284425.2	-	15	2120	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	649	ABC transporter 1.				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)					TTGATCTCTGGAAAAGGGATC	0.418000													18	14					0	0	0.007413	0	0
EXPH5	23086	broad.mit.edu	37	11	108383806	108383806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:108383806G>A	ENST00000265843.4	-	6	2538	c.2428C>T	c.(2428-2430)Ctt>Ttt	p.L810F	EXPH5_ENST00000428840.1_Missense_Mutation_p.L734F|EXPH5_ENST00000443411.1_Missense_Mutation_p.L622F|EXPH5_ENST00000525344.1_Missense_Mutation_p.L803F	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	810					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATGAAAGGAAGGGAAGCTGTT	0.378000													53	74					0	0	0.003610	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68249851	68249851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:68249851G>A	ENST00000347230.4	-	21	4156	c.4018C>T	c.(4018-4020)Cgt>Tgt	p.R1340C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R1340C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1340					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGCGGCCACGAAGTTCCTTC	0.592000													34	60					0	0	0.003755	0	0
MGAM	8972	broad.mit.edu	37	7	141802440	141802440	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:141802440G>A	ENST00000475668.2	+	69	8028	c.7974G>A	c.(7972-7974)ggG>ggA	p.G2658G	MGAM_ENST00000549489.2_Silent_p.G1762G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1762					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACCTATGGGAAAGGACTCT	0.418000													15	9					0	0	0.002450	0	0
CGNL1	84952	broad.mit.edu	37	15	57731076	57731076	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:57731076C>T	ENST00000281282.5	+	2	957	c.879C>T	c.(877-879)tcC>tcT	p.S293S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	293	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAGCTCGGTCCCGGAGGTCCT	0.562000													15	10					0	0	0.004990	0	0
PPM1H	57460	broad.mit.edu	37	12	63225985	63225985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:63225985G>A	ENST00000228705.6	-	2	620	c.320C>T	c.(319-321)gCa>gTa	p.A107V		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	107							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CACGGCCCCTGCCTTCTTCTT	0.557000													14	9					0	0	0.002450	0	0
PHACTR1	221692	broad.mit.edu	37	6	13206120	13206120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:13206120G>A	ENST00000379350.1	+	7	867	c.738G>A	c.(736-738)atG>atA	p.M246I	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.M101I|PHACTR1_ENST00000332995.7_Missense_Mutation_p.M246I			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	246						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	p.M246I(1)		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)			AGAAAGTCATGATCTGTATGC	0.602000													152	292					0	0	0.003610	0	0
UAP1	6675	broad.mit.edu	37	1	162536125	162536125	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:162536125C>T	ENST00000271469.3	+	2	569	c.267C>T	c.(265-267)gcC>gcT	p.A89A	UAP1_ENST00000367925.1_Silent_p.A89A|UAP1_ENST00000367924.1_Silent_p.A89A|UAP1_ENST00000367926.4_Silent_p.A89A			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	89					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGCTCCAGGCCTGGGAAAGTG	0.413000													15	46					0	0	0.002450	0	0
OR5D16	390144	broad.mit.edu	37	11	55607076	55607076	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:55607076G>A	ENST00000378396.1	+	1	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACACCGTGGTGATCCCCTTGT	0.403000													34	26					0	0	0.002222	0	0
ERN2	10595	broad.mit.edu	37	16	23703508	23703508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:23703508G>A	ENST00000256797.4	-	18	2557	c.2389C>T	c.(2389-2391)Cac>Tac	p.H797Y	ERN2_ENST00000457008.2_Missense_Mutation_p.H697Y	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	749	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCTCACCGTGGACCTCTTCC	0.612000													58	67					0	0	0.003610	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751744	140751744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140751744G>A	ENST00000576222.1	+	1	1914	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGGTGGACGCAGACTC	0.667000													32	55					0	0	0.002836	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724540	38724540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:38724540C>T	ENST00000342213.2	-	1	1034	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	230						integral to membrane	sugar binding	p.E230K(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCGCCGATTTCGTCCGCGATG	0.637000													89	106					0	0	0.003610	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541288	178541288	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:178541288C>T	ENST00000251582.7	-	22	3317	c.3216G>A	c.(3214-3216)agG>agA	p.R1072R		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1072	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGACTTCCATCCTACAGAATA	0.498000													20	22					0	0	0.002299	0	0
WARS	7453	broad.mit.edu	37	14	100828141	100828141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:100828141G>A	ENST00000355338.2	-	3	835	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	WARS_ENST00000344102.5_Missense_Mutation_p.H32Y|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.H73Y|WARS_ENST00000392882.2_Missense_Mutation_p.H73Y|WARS_ENST00000358655.4_Missense_Mutation_p.H32Y|WARS_ENST00000556645.1_Missense_Mutation_p.H32Y	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	73					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCTGGGCCATGATTACTGGTA	0.488000													64	110					0	0	0.003610	0	0
SPINT1	6692	broad.mit.edu	37	15	41146839	41146839	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:41146839A>T	ENST00000344051.4	+	8	1351	c.1117A>T	c.(1117-1119)Acg>Tcg	p.T373S	SPINT1_ENST00000431806.1_Missense_Mutation_p.T357S|SPINT1_ENST00000562057.1_Missense_Mutation_p.T357S			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	373						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCTGCAGACACGAGTGGCTT	0.602000													32	43					0	0	0.002836	0	0
VPS13D	55187	broad.mit.edu	37	1	12371558	12371558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:12371558C>T	ENST00000358136.3	+	28	6828	c.6698C>T	c.(6697-6699)tCc>tTc	p.S2233F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2233F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2233					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCAATCTCTCCTCAGTCCAC	0.408000													34	37					0	0	0.003755	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64508805	64508805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:64508805G>A	ENST00000303052.7	-	5	823	c.400C>T	c.(400-402)Cga>Tga	p.R134*	CSNK1G1_ENST00000607537.1_Nonsense_Mutation_p.R134*|CTD-2116N17.1_ENST00000606793.1_Nonsense_Mutation_p.R107*|CSNK1G1_ENST00000303032.6_Nonsense_Mutation_p.R134*	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	134	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						GTAAATGTTCGGTCACAGAGG	0.463000													17	23					0	0	0.004990	0	0
NUTM2G	441457	broad.mit.edu	37	9	99691310	99691310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:99691310G>A	ENST00000354649.3	+	1	719	c.4G>A	c.(4-6)Gct>Act	p.A2T	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.A2T	NM_001045477.2	NP_001038942.1			NUT family member 2G																		TGAGGGGATGGCTTCAAATGG	0.537000													51	20					0	0	0.003610	0	0
LRPPRC	10128	broad.mit.edu	37	2	44209439	44209439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:44209439C>T	ENST00000260665.7	-	2	341	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LRPPRC_ENST00000409946.1_Missense_Mutation_p.R95Q|LRPPRC_ENST00000409659.1_Missense_Mutation_p.R95Q	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	95					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCCAGTTCTTCGAACAGAAAG	0.378000													128	199					0	0	0.003610	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202658	140202658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140202658C>T	ENST00000529859.1	+	1	1298	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	PCDHA5_ENST00000529619.1_Missense_Mutation_p.S433L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S433L|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.637000													51	68					0	0	0.003610	0	0
LY6G6C	80740	broad.mit.edu	37	6	31686890	31686890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:31686890G>A	ENST00000375819.2	-	3	526	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F	LY6G6C_ENST00000495859.1_Missense_Mutation_p.L65F	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	121						anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						AGCAGCCAGAGGCCAAGGCCA	0.607000													156	363					0	0	0.003610	0	0
SFMBT2	57713	broad.mit.edu	37	10	7230608	7230608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:7230608G>A	ENST00000361972.4	-	16	1876	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.Q596*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	596					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTCTCTTCCTGGAAATTCCAG	0.428000													36	11					0	0	0.006230	0	0
OR14A16	284532	broad.mit.edu	37	1	247978792	247978792	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:247978792G>A	ENST00000357627.1	-	1	239	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I80I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAGAATTGGCGATAGATTTGG	0.443000													28	26					0	0	0.004656	0	0
ZNF676	163223	broad.mit.edu	37	19	22362962	22362962	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:22362962G>A	ENST00000397121.2	-	3	1874	c.1557C>T	c.(1555-1557)atC>atT	p.I519I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTCAGTAAGGATCGAGGACC	0.398000													18	25					0	0	0.006122	0	0
PHF3	23469	broad.mit.edu	37	6	64404537	64404537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:64404537C>T	ENST00000262043.3	+	6	2903	c.2563C>T	c.(2563-2565)Cct>Tct	p.P855S	PHF3_ENST00000393387.1_Missense_Mutation_p.P855S			Q92576	PHF3_HUMAN	PHD finger protein 3	855					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCAGCTAGCTCCTCTTCGTAA	0.378000													53	86					0	0	0.003610	0	0
AE000661.37	0	broad.mit.edu	37	14	22891808	22891808	+	RNA	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:22891808C>T	ENST00000514473.2	-	0	225				AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|TRDV2_ENST00000390469.2_RNA|AE000661.37_ENST00000535351.1_RNA																							CTGCCACCCTCAGGTGCTCCA	0.488000													47	42					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857890	9857890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:9857890G>A	ENST00000396573.2	-	14	3820	c.3511C>T	c.(3511-3513)Ccc>Tcc	p.P1171S	GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1171S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1171S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1171S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1171S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P1014S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1171					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			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)	TTATGCAAGGGGTTCCGGTTC	0.542000													78	95					0	0	0.003610	0	0
PPFIA4	8497	broad.mit.edu	37	1	203020942	203020942	+	Silent	SNP	A	A	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:203020942A>T	ENST00000367240.2	+	13	2021	c.1494A>T	c.(1492-1494)acA>acT	p.T498T	PPFIA4_ENST00000414050.2_Silent_p.T226T|PPFIA4_ENST00000295706.4_Silent_p.T13T|PPFIA4_ENST00000272198.6_Silent_p.T13T|PPFIA4_ENST00000447715.2_Silent_p.T523T|PPFIA4_ENST00000599966.1_Silent_p.T13T			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	13	SAM 2.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCTGGGCACAACCACACACG	0.637000													15	18					0	0	0.004007	0	0
VWA5A	4013	broad.mit.edu	37	11	124012361	124012361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:124012361G>A	ENST00000456829.2	+	16	2187	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	VWA5A_ENST00000392748.1_Missense_Mutation_p.E646K|VWA5A_ENST00000360334.4_Silent_p.G407G	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	646										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GCCCAGAGGGGAACTTATGTG	0.473000													24	49					0	0	0.004656	0	0
OR2B2	81697	broad.mit.edu	37	6	27879182	27879182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:27879182C>T	ENST00000303324.2	-	1	992	c.916G>A	c.(916-918)Gca>Aca	p.A306T		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AGACTCTTTGCAACCAACCTT	0.378000													26	50					0	0	0.007291	0	0
KCND2	3751	broad.mit.edu	37	7	119914791	119914791	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:119914791G>A	ENST00000331113.4	+	1	1070	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	35					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGCAGGAGAGGAAAAGGACCC	0.637000													80	149					0	0	0.003610	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246133	33246133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:33246133G>A	ENST00000451237.1	+	1	1217	c.937G>A	c.(937-939)Ggt>Agt	p.G313S		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	313					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CAAGCTGGCTGGTGCCACCCA	0.622000													99	55					0	0	0.003610	0	0
TRAJ39	28716	broad.mit.edu	37	14	22970647	22970647	+	RNA	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:22970647C>T	ENST00000390498.1	+	0	63																											GGTCAAACCCCGTGAGTATCT	0.408000													19	33					0	0	0.007413	0	0
GEM	2669	broad.mit.edu	37	8	95262655	95262655	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:95262655C>T	ENST00000297596.2	-	5	1038	c.774G>A	c.(772-774)agG>agA	p.R258R	GEM_ENST00000396194.2_Silent_p.R258R	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	258					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGCTCTCCTTCCTTTTCTGGT	0.552000													26	40					0	0	0.003954	0	0
GPR98	84059	broad.mit.edu	37	5	89979464	89979464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:89979464C>T	ENST00000405460.2	+	28	5822	c.5726C>T	c.(5725-5727)cCt>cTt	p.P1909L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1909					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)		GACTCTGATCCTGATGGTGAT	0.413000													11	15					0	0	0.000978	0	0
DOCK8	81704	broad.mit.edu	37	9	340242	340242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:340242C>T	ENST00000432829.2	+	14	1712	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	DOCK8_ENST00000453981.1_Missense_Mutation_p.P534S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P466S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	534	DHR-1.				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)		GAAACCCTTTCCTGAAAACCG	0.468000													35	12					0	0	0.004289	0	0
AREG	374	broad.mit.edu	37	4	75312457	75312457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:75312457G>A	ENST00000395748.3	+	2	480	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	AREG_ENST00000264487.2_Missense_Mutation_p.E90K|AREG_ENST00000502307.1_Missense_Mutation_p.E90K	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	90					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			GTATGATAACGAACCACAAAT	0.448000													39	55					0	0	0.003610	0	0
KCNJ9	3765	broad.mit.edu	37	1	160053979	160053979	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:160053979G>A	ENST00000368088.3	+	2	401	c.159G>A	c.(157-159)gtG>gtA	p.V53V		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	53					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACGCTGGTGGACCTGCAGT	0.657000													4	10					0	0	0.000248	0	0
LRRC14B	389257	broad.mit.edu	37	5	194850	194850	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:194850G>A	ENST00000328278.3	+	2	955	c.927G>A	c.(925-927)ctG>ctA	p.L309L		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	309										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TGCGAGTACTGGACCTGGCCA	0.647000													7	11					0	0	0.000978	0	0
LRRC32	2615	broad.mit.edu	37	11	76372239	76372239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:76372239C>T	ENST00000407242.2	-	3	640	c.398G>A	c.(397-399)gGg>gAg	p.G133E	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.G133E|LRRC32_ENST00000404995.1_Missense_Mutation_p.G133E	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	133						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGGCTGTTCCCAGACAGGTC	0.687000													25	35					0	0	0.006320	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996436	140996436	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:140996436G>A	ENST00000285879.4	+	4	3532	c.3246G>A	c.(3244-3246)agG>agA	p.R1082R	MAGEC1_ENST00000406005.2_Silent_p.R149R	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1082	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCATTAAGAGGAAAGTAGTAG	0.468000										HNSCC(15;0.026)			87	110					0	0	0.003610	0	0
SRRM2	23524	broad.mit.edu	37	16	2811981	2811981	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:2811981C>T	ENST00000301740.8	+	11	2001	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	484	Arg-rich.|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						TGGGGAGGTCCCGTAGCCCTG	0.557000													14	28					0	0	0.003163	0	0
DNAH2	146754	broad.mit.edu	37	17	7663240	7663240	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:7663240C>T	ENST00000572933.1	+	17	4229	c.2769C>T	c.(2767-2769)ccC>ccT	p.P923P	DNAH2_ENST00000389173.2_Silent_p.P923P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	923	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCGTGAACCCATCCAAACAG	0.562000													77	117					0	0	0.003610	0	0
PROC	5624	broad.mit.edu	37	2	128186044	128186044	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:128186044T>G	ENST00000453608.2	+	8	1081	c.1073T>G	c.(1072-1074)cTg>cGg	p.L358R	PROC_ENST00000234071.3_Missense_Mutation_p.L303R|PROC_ENST00000422777.3_Missense_Mutation_p.L303R|PROC_ENST00000409048.1_Missense_Mutation_p.L337R			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	303	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATCGCACTGCTGCACCTGGCC	0.647000													28	31					0	0	0.006320	0	0
DENND5A	23258	broad.mit.edu	37	11	9225656	9225656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:9225656G>A	ENST00000328194.3	-	4	820	c.500C>T	c.(499-501)cCc>cTc	p.P167L	DENND5A_ENST00000530044.1_Missense_Mutation_p.P167L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	167										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCAGCAGGGGGAGCATGTAG	0.512000													22	42					0	0	0.001523	0	0
TSSC2	650368	broad.mit.edu	37	11	3426096	3426096	+	RNA	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:3426096C>T	ENST00000529482.1	+	0	845																											AAAGGGCCTCCGAGGGAGTAT	0.602000													5	47					0	0	0.003080	0	0
OR8B12	219858	broad.mit.edu	37	11	124413368	124413368	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:124413368G>A	ENST00000306842.2	-	1	207	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGTTAAAAAGGAAGAAGTACA	0.453000													26	40					0	0	0.003954	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615614	140615614	+	RNA	SNP	G	G	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140615614G>T	ENST00000526308.1	+	0	1677					NR_001281.1													p.P443P(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CCCAGGACCCGCACCTGCCCC	0.647000													5	159					0.00198382	0.00218931	0.001984	1	0
NPAP1	23742	broad.mit.edu	37	15	24923948	24923948	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:24923948G>A	ENST00000329468.2	+	1	3408	c.2934G>A	c.(2932-2934)aaG>aaA	p.K978K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCACAGCAAAGACTTCTGGAT	0.483000													19	40					0	0	0.008871	0	0
SF3A2	8175	broad.mit.edu	37	19	2243473	2243473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:2243473C>T	ENST00000221494.4	+	2	474	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	19					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCCTCCTCCTCCGAGAGC	0.672000													36	45					0	0	0.007835	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602760	96602760	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:96602760C>T	ENST00000371321.3	+	7	1210	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	376					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACGTTAAATTCAGAAACTACC	0.473000													31	13					0	0	0.001786	0	0
POTEC	388468	broad.mit.edu	37	18	14534957	14534957	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:14534957A>C	ENST00000358970.5	-	4	859	c.860T>G	c.(859-861)gTg>gGg	p.V287G	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	287										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAATTTCACCACTTGCTGTTT	0.289000													16	82					0	0	0.008740	0	0
ARNT	405	broad.mit.edu	37	1	150812125	150812125	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:150812125T>C	ENST00000358595.5	-	6	478	c.278A>G	c.(277-279)aAt>aGt	p.N93S	ARNT_ENST00000515192.1_Missense_Mutation_p.N84S|ARNT_ENST00000505755.1_Missense_Mutation_p.N78S|ARNT_ENST00000354396.2_Missense_Mutation_p.N93S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	93					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCACTGTGATTTTCCCTGCA	0.498000			T	ETV6	AML								21	6					0	0	0.001523	0	0
ZNF28	7576	broad.mit.edu	37	19	53303922	53303922	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:53303922G>A	ENST00000438150.2	-	2	1910	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	ZNF28_ENST00000360272.4_Silent_p.F339F|ZNF28_ENST00000457749.2_Silent_p.F392F|ZNF28_ENST00000414252.2_Silent_p.F339F			P17035	ZNF28_HUMAN	zinc finger protein 28	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTTGCGACTGAAAACTTTTT	0.383000													27	107					0	0	0.003954	0	0
ZBTB11	27107	broad.mit.edu	37	3	101383815	101383815	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:101383815A>G	ENST00000312938.4	-	4	2196	c.1616T>C	c.(1615-1617)gTt>gCt	p.V539A		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACCTGTTGAACTGCTGACTT	0.398000													50	63					0	0	0.003610	0	0
F7	2155	broad.mit.edu	37	13	113771805	113771805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:113771805G>A	ENST00000375581.3	+	8	735	c.700G>A	c.(700-702)Gga>Aga	p.G234R	F7_ENST00000541084.1_Missense_Mutation_p.G165R|F7_ENST00000346342.3_Missense_Mutation_p.G212R	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	234	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTTGGTGAATGGAGCTCAGTT	0.572000													49	54					0	0	0.003610	0	0
ZNF839	55778	broad.mit.edu	37	14	102792356	102792356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:102792356G>A	ENST00000442396.2	+	2	338	c.323G>A	c.(322-324)gGa>gAa	p.G108E	ZNF839_ENST00000262236.5_5'UTR|ZNF839_ENST00000558850.1_5'UTR|ZNF839_ENST00000559185.1_5'UTR			A8K0R7	ZN839_HUMAN	zinc finger protein 839	0	Poly-Ser.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTAACGTCTGGAGAAACAAAA	0.478000													13	13					0	0	0.001368	0	0
CD163	9332	broad.mit.edu	37	12	7640090	7640090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:7640090C>T	ENST00000359156.4	-	8	2117	c.1915G>A	c.(1915-1917)Gga>Aga	p.G639R	CD163_ENST00000432237.2_Missense_Mutation_p.G639R|CD163_ENST00000541972.1_Missense_Mutation_p.G627R|CD163_ENST00000396620.3_Missense_Mutation_p.G672R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	639	SRCR 6.				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						TTTCCTTTTCCAAAACGTGCT	0.483000													38	73					0	0	0.002222	0	0
DSCR10	259234	broad.mit.edu	37	21	39580344	39580344	+	RNA	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr21:39580344C>T	ENST00000432141.1	+	0	466					NR_027695.1																						TCCTGGGCTCCAGACAGAAAC	0.587000													45	58					0	0	0.003214	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564905	47564905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:47564905G>A	ENST00000334194.3	+	8	1019	c.1016G>A	c.(1015-1017)aGa>aAa	p.R339K	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	339						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CATCAGCAGAGATGCCGAGAT	0.453000													24	24					0	0	0.003330	0	0
CD84	8832	broad.mit.edu	37	1	160535385	160535385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:160535385C>T	ENST00000368054.3	-	2	232	c.197G>A	c.(196-198)gGa>gAa	p.G66E	CD84_ENST00000534968.1_Intron|CD84_ENST00000368048.3_Missense_Mutation_p.G66E|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000311224.4_Missense_Mutation_p.G66E|CD84_ENST00000368051.3_Missense_Mutation_p.G66E	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	66					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCTGAGTCTCCTGGTGTTAC	0.428000													100	74					0	0	0.003610	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43577766	43577766	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:43577766G>A	ENST00000409746.5	-	9	662	c.591C>T	c.(589-591)acC>acT	p.T197T	PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Silent_p.T197T	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	197						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CCTTATCCAGGGTGCCGATGT	0.587000													46	69					0	0	0.003610	0	0
KDR	3791	broad.mit.edu	37	4	55970857	55970857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:55970857C>T	ENST00000263923.4	-	13	2235	c.1940G>A	c.(1939-1941)aGg>aAg	p.R647K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	647	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGGTCTTCCTGTCTTGAGC	0.463000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			16	14					0	0	0.006122	0	0
BARX2	8538	broad.mit.edu	37	11	129306863	129306863	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:129306863G>A	ENST00000281437.4	+	2	501	c.405G>A	c.(403-405)cgG>cgA	p.R135R	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	135										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AGCCCCGCCGGAGTCGCACCA	0.627000													11	9					0	0	0.000978	0	0
PRDM2	7799	broad.mit.edu	37	1	14105503	14105503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:14105503C>T	ENST00000235372.7	+	8	2069	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R204W|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R204W|PRDM2_ENST00000311066.5_Missense_Mutation_p.R405W	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	405						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACAGATTAACCGGCGGCGACA	0.517000													22	34					0	0	0.002299	0	0
CHD6	84181	broad.mit.edu	37	20	40079728	40079728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:40079728G>A	ENST00000373233.3	-	23	3718	c.3541C>T	c.(3541-3543)Ccc>Tcc	p.P1181S	CHD6_ENST00000309279.7_Missense_Mutation_p.P664S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1181					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCCCTCTGGGGACTGGGGCA	0.542000													32	56					0	0	0.004878	0	0
PRDM2	7799	broad.mit.edu	37	1	14105501	14105501	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:14105501A>C	ENST00000235372.7	+	8	2067	c.1211A>C	c.(1210-1212)aAc>aCc	p.N404T	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.N203T|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.N203T|PRDM2_ENST00000311066.5_Missense_Mutation_p.N404T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	404						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACACAGATTAACCGGCGGCGA	0.517000													20	34					0	0	0.001882	0	0
IQCA1	79781	broad.mit.edu	37	2	237272553	237272553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:237272553C>T	ENST00000409907.3	-	15	2013	c.1739G>A	c.(1738-1740)gGg>gAg	p.G580E	IQCA1_ENST00000309507.5_Missense_Mutation_p.G577E|IQCA1_ENST00000431676.2_Missense_Mutation_p.G539E			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	580							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CATTTTCTTCCCTACCCCAGA	0.507000													30	43					0	0	0.007291	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406235	39406235	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:39406235C>A	ENST00000334109.2	+	1	297	c.263C>A	c.(262-264)tCc>tAc	p.S88Y		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	88	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGTGGGTCCAGCTGTGAC	0.597000													45	68					6.57855e-14	7.3183e-14	0.002222	1	0
ZNF780A	284323	broad.mit.edu	37	19	40581187	40581187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:40581187G>A	ENST00000450241.2	-	6	1371	c.1060C>T	c.(1060-1062)Ccg>Tcg	p.P354S	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.P389S|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.P389S|ZNF780A_ENST00000595687.2_Missense_Mutation_p.P388S|ZNF780A_ENST00000340963.5_Missense_Mutation_p.P388S			O75290	Z780A_HUMAN	zinc finger protein 780A	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATTCAAACGGTTTTTCACCT	0.403000													49	161					0	0	0.003610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492149	85492149	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:85492149G>A	ENST00000393217.2	+	12	2965	c.2904G>A	c.(2902-2904)ttG>ttA	p.L968L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	968										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAGAATCTTTGAAAAATCTTC	0.313000													11	14					0	0	0.000978	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532658	84532658	+	RNA	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:84532658G>A	ENST00000527857.1	+	0	2680					NR_026851.1																						TGGTAGCATTGGTGAGTGAGG	0.428000													18	7					0	0	0.001523	0	0
DFNB31	25861	broad.mit.edu	37	9	117168912	117168912	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:117168912G>A	ENST00000362057.3	-	9	2127	c.1959C>T	c.(1957-1959)tcC>tcT	p.S653S	DFNB31_ENST00000265134.6_Silent_p.S270S|DFNB31_ENST00000374059.3_Silent_p.S302S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	653	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGGGAGACGGAGGCATAGA	0.682000													42	16					0	0	0.002852	0	0
GLIS1	148979	broad.mit.edu	37	1	53975537	53975537	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:53975537G>A	ENST00000312233.2	-	8	2088	c.1522C>T	c.(1522-1524)Ctg>Ttg	p.L508L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	508	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGCTGGGCAGAGGCGGGGGT	0.657000													11	18					0	0	0.003163	0	0
IL4R	3566	broad.mit.edu	37	16	27367137	27367137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:27367137G>A	ENST00000395762.2	+	8	938	c.679G>A	c.(679-681)Gag>Aag	p.E227K	IL4R_ENST00000380922.3_Missense_Mutation_p.E212K|IL4R_ENST00000170630.2_Missense_Mutation_p.E227K|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_Missense_Mutation_p.E227K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	227					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGCCTACAGGGAGCCCTTCGA	0.607000													18	40					0	0	0.007413	0	0
MLX	6945	broad.mit.edu	37	17	40722080	40722080	+	Missense_Mutation	SNP	A	A	G	rs143736694		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:40722080A>G	ENST00000246912.4	+	7	772	c.719A>G	c.(718-720)aAc>aGc	p.N240S	MLX_ENST00000346833.4_Missense_Mutation_p.N156S|MLX_ENST00000435881.2_Missense_Mutation_p.N186S	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	240					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GTCAAGTTCAACGTGTTTCAA	0.537000													36	46					0	0	0.003271	0	0
WNT5B	81029	broad.mit.edu	37	12	1749083	1749083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:1749083G>A	ENST00000397196.2	+	4	794	c.562G>A	c.(562-564)Gga>Aga	p.G188R	WNT5B_ENST00000310594.3_Missense_Mutation_p.G188R|WNT5B_ENST00000537031.1_Missense_Mutation_p.G188R|WNT5B_ENST00000542408.1_Intron	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	188					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CTTTGCCAAAGGATCAGAGGA	0.632000													11	23					0	0	0.008291	0	0
MSRA	4482	broad.mit.edu	37	8	10159066	10159066	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:10159066C>T	ENST00000528246.1	+	5	779	c.156C>T	c.(154-156)gtC>gtT	p.V52V	MSRA_ENST00000441698.2_Silent_p.V78V|MSRA_ENST00000518255.1_Silent_p.V118V|MSRA_ENST00000382490.5_Silent_p.V75V|MSRA_ENST00000317173.4_Silent_p.V118V	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	118					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATGCAGAAGTCGTCCGAGTGG	0.428000													21	8					0	0	0.001882	0	0
SPATA31A2	642265	broad.mit.edu	37	9	39888169	39888169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:39888169G>A	ENST00000456183.2	+	4	1185	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R		NM_001040065.1	NP_001035154.1			SPATA31 subfamily A, member 2																		CTGGAACATGGGAGAGAACTC	0.473000													83	34					0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57829779	57829779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:57829779G>A	ENST00000371030.2	+	5	5015	c.5015G>A	c.(5014-5016)cGa>cAa	p.R1672Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1672						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GATGAAGACCGATTAGTTATA	0.453000													19	28					0	0	0.001882	0	0
SCN11A	11280	broad.mit.edu	37	3	38968362	38968362	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:38968362G>A	ENST00000450244.1	-	4	747	c.549C>T	c.(547-549)ttC>ttT	p.F183F	SCN11A_ENST00000444237.2_Silent_p.F183F|SCN11A_ENST00000302328.3_Silent_p.F183F|SCN11A_ENST00000456224.3_Silent_p.F183F			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	183					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)	CATCCAGAATGAAACCTCTTG	0.343000													33	59					0	0	0.001786	0	0
MUC16	94025	broad.mit.edu	37	19	9063144	9063144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:9063144G>A	ENST00000397910.4	-	3	24505	c.24302C>T	c.(24301-24303)tCa>tTa	p.S8101L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8103	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						GCCAGGAGTTGATGTGGAGAC	0.483000													32	55					0	0	0.001786	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480495	140480495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140480495G>A	ENST00000231130.2	+	1	262	c.262G>A	c.(262-264)Gag>Aag	p.E88K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		88	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGAATGAGAAATTGGA	0.488000													39	57					0	0	0.006999	0	0
MUC5B	727897	broad.mit.edu	37	11	1258233	1258233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:1258233G>A	ENST00000447027.1	+	25	3203	c.3145G>A	c.(3145-3147)Ggg>Agg	p.G1049R	MUC5B_ENST00000529681.1_Missense_Mutation_p.G1046R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1046	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCCGTGGTGGGGGACGCACT	0.657000													9	8					0	0	0.004482	0	0
INA	9118	broad.mit.edu	37	10	105048212	105048212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:105048212C>T	ENST00000369849.4	+	3	1335	c.1286C>T	c.(1285-1287)cCt>cTt	p.P429L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	429	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTGCTCCCACCTAGAATCCTC	0.498000													47	11					0	0	0.003610	0	0
ASH1L	55870	broad.mit.edu	37	1	155450034	155450034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:155450034G>A	ENST00000368346.3	-	3	3266	c.2627C>T	c.(2626-2628)tCc>tTc	p.S876F	ASH1L_ENST00000392403.3_Missense_Mutation_p.S876F			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	876					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGTTTGAAGGAAGGGATTTC	0.418000													57	143					0	0	0.003610	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554577	44554577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:44554577C>T	ENST00000330682.2	-	1	1872	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTGAGTTTATCGTCGGGAGAA	0.567000													26	296					0	0	0.002445	0	0
OBSCN	84033	broad.mit.edu	37	1	228494759	228494759	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:228494759G>A	ENST00000570156.2	+	56	15029	c.14955G>A	c.(14953-14955)caG>caA	p.Q4985Q	OBSCN_ENST00000366707.4_Silent_p.Q1662Q|OBSCN_ENST00000422127.1_Silent_p.Q4028Q|OBSCN_ENST00000366709.4_Silent_p.Q1147Q|OBSCN_ENST00000284548.11_Silent_p.Q4028Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4028	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATGGTGCAGGATGGTGCAG	0.642000													15	32					0	0	0.003163	0	0
FOXG1	2290	broad.mit.edu	37	14	29237290	29237290	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:29237290A>C	ENST00000382535.3	+	2	1174	c.805A>C	c.(805-807)Acc>Ccc	p.T269P	FOXG1_ENST00000313071.4_Missense_Mutation_p.T269P			P55316	FOXG1_HUMAN	forkhead box G1	269					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CATCGGCGGCACCACGGGCAA	0.682000													13	22					0	0	0.002450	0	0
DNAH10	196385	broad.mit.edu	37	12	124333344	124333344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:124333344G>A	ENST00000409039.3	+	33	5688	c.5663G>A	c.(5662-5664)cGa>cAa	p.R1888Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1888	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1888Q(1)|p.R480Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGTTTAATCGAATCGATGCT	0.517000													10	17					0	0	0.008291	0	0
GRIA3	2892	broad.mit.edu	37	X	122551445	122551445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:122551445G>A	ENST00000264357.5	+	11	1985	c.1693G>A	c.(1693-1695)Gga>Aga	p.G565R	GRIA3_ENST00000371251.1_Missense_Mutation_p.G565R|GRIA3_ENST00000541091.1_Missense_Mutation_p.G549R|GRIA3_ENST00000542149.1_Missense_Mutation_p.G565R|GRIA3_ENST00000371256.5_Missense_Mutation_p.G565R	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	565					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGCTTACATTGGAGTCAGCGT	0.438000													119	150					0	0	0.003610	0	0
PDE1A	5136	broad.mit.edu	37	2	183104853	183104853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:183104853C>T	ENST00000435564.1	-	3	582	c.382G>A	c.(382-384)Gga>Aga	p.G128R	PDE1A_ENST00000410103.1_Missense_Mutation_p.G128R|PDE1A_ENST00000409365.1_Missense_Mutation_p.G112R|PDE1A_ENST00000536095.1_Missense_Mutation_p.G24R|PDE1A_ENST00000358139.2_Missense_Mutation_p.G128R|PDE1A_ENST00000351439.5_Missense_Mutation_p.G112R|PDE1A_ENST00000456212.1_Missense_Mutation_p.G128R|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000331935.6_Missense_Mutation_p.G128R|PDE1A_ENST00000346717.4_Missense_Mutation_p.G94R	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	128					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACAAAAATTCCAGCTTGAACA	0.393000													32	39					0	0	0.003271	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829910	106829910	+	RNA	SNP	A	A	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:106829910A>G	ENST00000390616.2	-	0	98																											GAACAGAGAAACCCACAGTGA	0.572000													18	12					0	0	0.006122	0	0
OR51F2	119694	broad.mit.edu	37	11	4843571	4843571	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:4843571A>G	ENST00000322110.5	+	1	1021	c.956A>G	c.(955-957)aAg>aGg	p.K319R	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATTATCAAGGTCTTAATT	0.368000													41	60					0	0	0.002522	0	0
COL9A2	1298	broad.mit.edu	37	1	40771413	40771413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:40771413C>T	ENST00000372748.3	-	21	1177	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	361	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGAGAATCCAGGAAGGCCC	0.612000													17	34					0	0	0.004990	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256358	140256358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140256358C>T	ENST00000398631.2	+	1	1301	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.627000													74	96					0	0	0.003610	0	0
LRFN1	57622	broad.mit.edu	37	19	39804582	39804582	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:39804582G>A	ENST00000248668.4	-	1	1394	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	465	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTAGACGAGGGAGTCATCAA	0.632000													9	80					0	0	0.006214	0	0
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	T	rs121913292		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:89692905G>T	ENST00000371953.3	+	5	1746	c.389G>T	c.(388-390)cGa>cTa	p.R130L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403000	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			31	15					3.99451e-17	4.45263e-17	0.001786	1	0
ADH4	127	broad.mit.edu	37	4	100057678	100057678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:100057678C>T	ENST00000508393.1	-	6	743	c.578G>A	c.(577-579)aGa>aAa	p.R193K	ADH4_ENST00000423445.1_Missense_Mutation_p.R193K|ADH4_ENST00000265512.7_Missense_Mutation_p.R174K|ADH4_ENST00000505590.1_Missense_Mutation_p.R193K|RP11-696N14.1_ENST00000500358.2_RNA			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	174					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	CAGACAAACTCTCTCTAAATT	0.388000													24	41					0	0	0.004656	0	0
LAT2	7462	broad.mit.edu	37	7	73634332	73634332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:73634332C>T	ENST00000460943.1	+	6	1110	c.221C>T	c.(220-222)cCc>cTc	p.P74L	LAT2_ENST00000344995.5_Missense_Mutation_p.P74L|LAT2_ENST00000275635.7_Missense_Mutation_p.P74L|LAT2_ENST00000398475.1_Missense_Mutation_p.P74L	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	74					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						GACATGGCACCCACAAGGTAG	0.637000													18	27					0	0	0.007413	0	0
CARD10	29775	broad.mit.edu	37	22	37892455	37892455	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:37892455C>T	ENST00000403299.1	-	14	2276		c.e14+1		CARD10_ENST00000251973.5_Splice_Site|CARD10_ENST00000406271.3_Splice_Site			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10						activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCCAGACTTACCCTTCGAGTC	0.647000													21	33					0	0	0.003954	0	0
POU6F2	11281	broad.mit.edu	37	7	39491250	39491250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:39491250C>T	ENST00000518318.2	+	8	1394	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	POU6F2_ENST00000559001.1_Missense_Mutation_p.S396F|POU6F2_ENST00000403058.1_Missense_Mutation_p.S451F			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	451	Ser-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						tcctcttcttcctcctcatcc	0.547000													6	10					0	0	0.001984	0	0
GRM1	2911	broad.mit.edu	37	6	146480485	146480485	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:146480485G>A	ENST00000392299.2	+	3	1172	c.700_splice	c.e3-1	p.G234_splice	GRM1_ENST00000507907.1_Splice_Site_p.G234_splice|GRM1_ENST00000361719.2_Splice_Site_p.G234_splice|GRM1_ENST00000492807.2_Splice_Site_p.G234_splice|GRM1_ENST00000355289.4_Splice_Site_p.G234_splice|GRM1_ENST00000282753.1_Splice_Site_p.G234_splice			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	234					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCTGGACAGGGAATTATGGGG	0.473000													39	17					0	0	0.002522	0	0
CHRDL1	91851	broad.mit.edu	37	X	109931860	109931860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:109931860C>T	ENST00000218054.4	-	9	1143	c.947G>A	c.(946-948)gGa>gAa	p.G316E	CHRDL1_ENST00000372045.1_Missense_Mutation_p.G310E|CHRDL1_ENST00000482160.1_Missense_Mutation_p.G237E|CHRDL1_ENST00000372042.1_Missense_Mutation_p.G317E|CHRDL1_ENST00000444321.2_Missense_Mutation_p.G316E|CHRDL1_ENST00000394797.4_Missense_Mutation_p.G316E|CHRDL1_ENST00000434224.1_Missense_Mutation_p.G237E	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	310	VWFC 3.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GCAGCATTTTCCGTCTATTTT	0.443000													56	81					0	0	0.003610	0	0
CD2	914	broad.mit.edu	37	1	117311171	117311171	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:117311171G>A	ENST00000369478.3	+	5	930	c.822G>A	c.(820-822)caG>caA	p.Q274Q		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	274					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CAACCCCTCAGAATCCAGCAA	0.567000													12	18					0	0	0.000978	0	0
SGOL2	151246	broad.mit.edu	37	2	201438006	201438006	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:201438006C>T	ENST00000357799.4	+	7	3035	c.2937C>T	c.(2935-2937)tcC>tcT	p.S979S		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	979					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTTTAGATTCCTACAAAGTAG	0.294000													21	32					0	0	0.001523	0	0
SMG1	23049	broad.mit.edu	37	16	18908210	18908210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:18908210G>A	ENST00000446231.2	-	2	573	c.161C>T	c.(160-162)tCc>tTc	p.S54F	SMG1_ENST00000389467.3_Missense_Mutation_p.S54F|SMG1_ENST00000565224.1_Missense_Mutation_p.S28F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	54	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCCATAAGAGGAAGAACCACC	0.403000													10	11					0	0	0.000978	0	0
RFX6	222546	broad.mit.edu	37	6	117250008	117250008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:117250008C>T	ENST00000332958.2	+	18	2501	c.2485C>T	c.(2485-2487)Cgt>Tgt	p.R829C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	829					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGCAGCATTCGTTCACTGCC	0.448000													35	48					0	0	0.002445	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432890	111432890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:111432890C>T	ENST00000393934.3	+	3	1351	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000477665.1_Missense_Mutation_p.H261Y	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	261					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GGGCTCCTTCCATGTCTCCCA	0.557000													18	28					0	0	0.008871	0	0
RNF112	7732	broad.mit.edu	37	17	19319073	19319073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:19319073G>A	ENST00000461366.1	+	14	1696	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	494							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GACACCATGCGGAACCTCCTC	0.597000													17	27					0	0	0.004990	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18776907	18776907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:18776907G>A	ENST00000380548.4	+	19	3019	c.2680G>A	c.(2680-2682)Gcg>Acg	p.A894T		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	894	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCCAAGACGGCGGTGGTGCT	0.682000													14	0					0	0	0.002450	0	0
AMOT	154796	broad.mit.edu	37	X	112022752	112022752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:112022752G>A	ENST00000371959.3	-	10	2629	c.2630C>T	c.(2629-2631)gCt>gTt	p.A877V	AMOT_ENST00000371962.1_Missense_Mutation_p.A645V|AMOT_ENST00000524145.1_Missense_Mutation_p.A877V|AMOT_ENST00000304758.1_Missense_Mutation_p.A468V	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	877					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gggagcaacagctgcagTTTT	0.602000													22	20					0	0	0.001882	0	0
TTLL10	254173	broad.mit.edu	37	1	1120496	1120496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:1120496C>T	ENST00000379288.3	+	9	1366	c.1189C>T	c.(1189-1191)Cca>Tca	p.P397S	TTLL10_ENST00000379289.1_Intron|TTLL10_ENST00000379290.1_Intron	NM_153254.2	NP_694986.2	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	0	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAAGGTGCGTCCACTGTGCCC	0.652000													14	21					0	0	0.001855	0	0
WDR45B	56270	broad.mit.edu	37	17	80579641	80579641	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:80579641G>A	ENST00000392325.4	-	6	656	c.462C>T	c.(460-462)tcC>tcT	p.S154S	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2			WD repeat domain 45B																		AGGCCAGGAGGGAGTTGTTAC	0.572000													5	17					0	0	0.001984	0	0
FAM47C	442444	broad.mit.edu	37	X	37027258	37027258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:37027258C>T	ENST00000358047.3	+	1	827	c.775C>T	c.(775-777)Cac>Tac	p.H259Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	259										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCACCTGGAGCC	0.617000													47	38					0	0	0.003610	0	0
CYP2F1	1572	broad.mit.edu	37	19	41626256	41626256	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:41626256C>T	ENST00000331105.2	+	4	411	c.339C>T	c.(337-339)atC>atT	p.I113I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	113					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCCCAGGCATCGCCTTCTCCA	0.552000													117	40					0	0	0.003610	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672809	141672809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:141672809C>T	ENST00000547270.1	-	1	764	c.681G>A	c.(679-681)atG>atA	p.M227I		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	227					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATAGACCTTCATTGTCCTCA	0.483000													39	4					0	0	0.008740	0	0
TTN	7273	broad.mit.edu	37	2	179458480	179458480	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:179458480A>T	ENST00000589042.1	-	298	58771	c.58547T>A	c.(58546-58548)aTt>aAt	p.I19516N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I17875N|TTN_ENST00000342175.6_Missense_Mutation_p.I10643N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I10451N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I16948N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I10576N|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17875	Fibronectin type-III 41.						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)			CTTCTCAATAATATAATTGGT	0.393000													26	32					0	0	0.007291	0	0
DSCAM	1826	broad.mit.edu	37	21	41450636	41450636	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr21:41450636G>A	ENST00000400454.1	-	26	5166	c.4689C>T	c.(4687-4689)ttC>ttT	p.F1563F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1563	Fibronectin type-III 6.				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	p.F1563F(1)		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)				TCAGCGTAGCGAAGTTGGCCT	0.592000													12	22					0	0	0.001855	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764768	77764768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:77764768G>A	ENST00000521891.2	+	10	6059	c.5611G>A	c.(5611-5613)Gaa>Aaa	p.E1871K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1845K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1826K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1826K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1826						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)			ACCAAAGCAGGAATTTATAAG	0.433000										HNSCC(33;0.089)			7	5					0	0	0.000978	0	0
TBCEL	219899	broad.mit.edu	37	11	120916475	120916475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:120916475C>T	ENST00000422003.2	+	2	264	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C	TBCEL_ENST00000529397.1_Missense_Mutation_p.R26C	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	26						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCCTTATCGCCGTGGCCCGGG	0.423000													17	28					0	0	0.004990	0	0
ZNF536	9745	broad.mit.edu	37	19	30934835	30934835	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:30934835C>T	ENST00000355537.3	+	2	513	c.366C>T	c.(364-366)gaC>gaT	p.D122D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACATCGAGGACGACGCCCGCA	0.637000													11	38					0	0	0.001368	0	0
RASL11A	387496	broad.mit.edu	37	13	27847287	27847287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:27847287C>T	ENST00000241463.4	+	4	1003	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	129	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		ACCCCTTTATCAGCACATCCG	0.562000													32	44					0	0	0.002445	0	0
LPA	4018	broad.mit.edu	37	6	160998268	160998268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:160998268G>A	ENST00000447678.1	-	29	4651	c.4531C>T	c.(4531-4533)Cga>Tga	p.R1511*	LPA_ENST00000316300.5_Nonsense_Mutation_p.R1511*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4019	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GATATGCCTCGATAACTCCGT	0.453000													52	13					0	0	0.003610	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	37					0	0	0.000248	0	0
TXLNB	167838	broad.mit.edu	37	6	139564297	139564297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:139564297G>A	ENST00000358430.3	-	10	1653	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	474						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTCTTCATCGGAGTTGTGCTG	0.463000													47	12					0	0	0.003610	0	0
GON4L	54856	broad.mit.edu	37	1	155730261	155730261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:155730261G>A	ENST00000437809.1	-	24	5205	c.5083C>T	c.(5083-5085)Cct>Tct	p.P1695S	GON4L_ENST00000368331.1_Missense_Mutation_p.P1695S|GON4L_ENST00000271883.5_Missense_Mutation_p.P1695S			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1695	PAH 1.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTTGCTCAGGTAACAGGAAA	0.483000													21	66					0	0	0.002299	0	0
CTCFL	140690	broad.mit.edu	37	20	56094368	56094368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:56094368G>A	ENST00000426658.2	-	3	1481	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	CTCFL_ENST00000539382.1_Missense_Mutation_p.R69C|CTCFL_ENST00000502686.2_Missense_Mutation_p.R12C|CTCFL_ENST00000433949.2_Missense_Mutation_p.R274C|CTCFL_ENST00000422109.2_Missense_Mutation_p.R274C|CTCFL_ENST00000429804.2_Missense_Mutation_p.R274C|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.R274C|CTCFL_ENST00000423479.2_Missense_Mutation_p.R274C|CTCFL_ENST00000371196.2_Missense_Mutation_p.R274C|CTCFL_ENST00000422869.2_Missense_Mutation_p.R274C|CTCFL_ENST00000432255.2_Missense_Mutation_p.R274C			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	274					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTCATATGACGATTAAAACTT	0.443000													28	60					0	0	0.006320	0	0
UROC1	131669	broad.mit.edu	37	3	126220660	126220660	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:126220660A>G	ENST00000383579.3	-	10	1067	c.1034T>C	c.(1033-1035)tTc>tCc	p.F345S	UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGCCTGGAGAAGCCCGAGGG	0.587000													26	48					0	0	0.008361	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													3	10					0	0	0.004672	0	0
COG7	91949	broad.mit.edu	37	16	23424809	23424809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:23424809G>A	ENST00000307149.5	-	10	1554	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	457					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCCTGGAAGAGGGAGTTGGGA	0.468000													43	50					0	0	0.002852	0	0
CARD10	29775	broad.mit.edu	37	22	37912264	37912264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:37912264C>T	ENST00000403299.1	-	4	631	c.415G>A	c.(415-417)Gag>Aag	p.E139K	CARD10_ENST00000251973.5_Missense_Mutation_p.E139K			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	139					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CGTCGCACCTCTGTCATCAAG	0.632000													6	12					0	0	0.001984	0	0
C3orf67	200844	broad.mit.edu	37	3	58855130	58855130	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:58855130G>A	ENST00000472469.1	-	8	1162	c.324C>T	c.(322-324)gcC>gcT	p.A108A	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Silent_p.A188A|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000482387.1_Silent_p.A188A			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	188										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GTATCAGCAAGGCTGACATTT	0.388000													29	27					0	0	0.007291	0	0
GRPR	2925	broad.mit.edu	37	X	16170679	16170679	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:16170679A>G	ENST00000380289.2	+	3	1464	c.1066A>G	c.(1066-1068)Acc>Gcc	p.T356A		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	356					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					AAGGAGTACAACCTGCATGAC	0.527000													157	100					0	0	0.003610	0	0
ANKFN1	162282	broad.mit.edu	37	17	54517700	54517700	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:54517700T>C	ENST00000566473.2	+	8	932	c.932T>C	c.(931-933)aTg>aCg	p.M311T	ANKFN1_ENST00000318698.2_Missense_Mutation_p.M311T			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	311	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAATGGAGTATGTCCGAAGAC	0.448000													46	53					0	0	0.003610	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227279642	227279642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:227279642C>T	ENST00000366769.3	-	16	3591	c.2300G>A	c.(2299-2301)cGa>cAa	p.R767Q	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R767Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R767Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R767Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R686Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R767Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R767Q	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	767					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CACTTTTTCTCGTTCATATTG	0.323000													19	16					0	0	0.002780	0	0
MFSD4	148808	broad.mit.edu	37	1	205554093	205554093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:205554093G>A	ENST00000367147.4	+	5	1042	c.949G>A	c.(949-951)Gta>Ata	p.V317I	MFSD4_ENST00000539267.1_Missense_Mutation_p.V317I|MFSD4_ENST00000536357.1_Missense_Mutation_p.V230I	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	317					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGGCGCCCTGGTACTGTTCAT	0.607000											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	50					0	0	0.003610	0	0
NOVA1	4857	broad.mit.edu	37	14	26918122	26918122	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:26918122C>T	ENST00000539517.2	-	5	884	c.567G>A	c.(565-567)aaG>aaA	p.K189K	NOVA1_ENST00000465357.2_Silent_p.K165K|NOVA1_ENST00000267422.7_Silent_p.K67K	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	192	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TAGCACCTCCCTTCCCTATTA	0.423000													38	59					0	0	0.002522	0	0
ATF2	1386	broad.mit.edu	37	2	175962221	175962221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:175962221G>A	ENST00000264110.2	-	11	1227	c.929C>T	c.(928-930)tCt>tTt	p.S310F	ATF2_ENST00000392543.2_Intron|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409635.1_Missense_Mutation_p.S252F|ATF2_ENST00000538946.1_Missense_Mutation_p.S292F|ATF2_ENST00000392544.1_Missense_Mutation_p.S310F|ATF2_ENST00000345739.5_Missense_Mutation_p.S252F|ATF2_ENST00000426833.3_Missense_Mutation_p.S292F|ATF2_ENST00000409437.1_Missense_Mutation_p.S194F	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	310					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CTGCGGTCGAGATTCCTCTGA	0.433000													33	45					0	0	0.005524	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325507	37325507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:37325507G>A	ENST00000262825.5	+	5	672	c.455G>A	c.(454-456)tGg>tAg	p.W152*	CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.W152*|CSF2RB_ENST00000403662.3_Nonsense_Mutation_p.W152*|CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.W93*	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	152	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTGCTGACCTGGAGTGTGGCC	0.617000													51	51					0	0	0.003610	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905792	132905792	+	Missense_Mutation	SNP	G	G	C	rs143919579	by1000genomes	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:132905792G>C	ENST00000409867.1	-	6	938	c.689C>G	c.(688-690)tCt>tGt	p.S230C	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like									p.S230C(2)		endometrium(1)|kidney(3)	4						TGTTCCTTCAGATGTTCCTTC	0.443000													3	17					0	0	0.000602	0	0
GABRE	2564	broad.mit.edu	37	X	151123444	151123444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:151123444C>T	ENST00000370328.3	-	9	1303	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCGCTCCTCTCCATCACTTCC	0.647000													8	9					0	0	0.003080	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857021	9857021	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:9857021G>A	ENST00000396573.2	-	14	4689	c.4380C>T	c.(4378-4380)atC>atT	p.I1460I	GRIN2A_ENST00000396575.2_Silent_p.I1460I|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000330684.3_Silent_p.I1460I|GRIN2A_ENST00000535259.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1460					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			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)	CATCAGATTCGATACTAGGCA	0.363000													9	24					0	0	0.004482	0	0
BRDT	676	broad.mit.edu	37	1	92446853	92446853	+	Silent	SNP	A	A	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:92446853A>G	ENST00000370389.2	+	11	2484	c.1560A>G	c.(1558-1560)gaA>gaG	p.E520E	BRDT_ENST00000362005.3_Silent_p.E593E|BRDT_ENST00000394530.3_Silent_p.E547E|BRDT_ENST00000399546.2_Silent_p.E593E|BRDT_ENST00000402388.1_Silent_p.E593E	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CCAAAGAAGAACTTCACTCAC	0.328000													21	29					0	0	0.001882	0	0
MUC3A	4584	broad.mit.edu	37	7	100549481	100549481	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:100549481G>A	ENST00000379458.4	+	2	62	c.61_splice	c.e2-1	p.*21_splice	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCCAATGCAGGAACTTTATCC	0.522000													31	61					0	0	0.002096	0	0
MXRA5	25878	broad.mit.edu	37	X	3238986	3238986	+	Silent	SNP	T	T	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:3238986T>C	ENST00000217939.6	-	5	4894	c.4740A>G	c.(4738-4740)gtA>gtG	p.V1580V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1580						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)				TACTACCAAATACTTGCTTTT	0.468000													62	151					0	0	0.003610	0	0
SMARCA5	8467	broad.mit.edu	37	4	144457813	144457813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:144457813C>T	ENST00000283131.3	+	11	1939	c.1477C>T	c.(1477-1479)Cct>Tct	p.P493S		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	493	Helicase C-terminal.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CAAGCTGCTCCCTAAGTTAAA	0.378000													9	12					0	0	0.008291	0	0
GRM8	2918	broad.mit.edu	37	7	126544728	126544728	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:126544728C>A	ENST00000339582.2	-	4	1545	c.737G>T	c.(736-738)tGc>tTc	p.C246F	GRM8_ENST00000405249.1_Missense_Mutation_p.C246F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.C246F|GRM8_ENST00000358373.3_Missense_Mutation_p.C246F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	246					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTGAGCAATGCAAACACCACC	0.373000										HNSCC(24;0.065)			22	43					1.36565e-18	1.52842e-18	0.002780	1	0
C1QTNF5	114902	broad.mit.edu	37	11	119214576	119214576	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:119214576G>A	ENST00000445041.2	-	0	1233				MFRP_ENST00000555262.1_Silent_p.Y358Y|MFRP_ENST00000449574.2_Silent_p.Y358Y|MFRP_ENST00000360167.4_Intron|MFRP_ENST00000530681.1_Silent_p.Y358Y	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN	C1q and tumor necrosis factor related protein 5						embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ACACCTCCACGTAGTCAAACT	0.572000													45	51					0	0	0.003610	0	0
OR6C74	254783	broad.mit.edu	37	12	55641806	55641806	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:55641806C>T	ENST00000343870.4	+	1	825	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ACATGGTGGTCGTGTCCATTT	0.388000													34	46					0	0	0.006999	0	0
GDF5	8200	broad.mit.edu	37	20	34022048	34022048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:34022048C>T	ENST00000374372.1	-	4	1668	c.1165G>A	c.(1165-1167)Ggc>Agc	p.G389S	GDF5OS_ENST00000374375.1_Missense_Mutation_p.P31L|GDF5_ENST00000374369.3_Missense_Mutation_p.G389S			P43026	GDF5_HUMAN	growth differentiation factor 5	389					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGTCGCTTGCCCTGGCGAGTG	0.592000													69	83					0	0	0.003610	0	0
LGALS9	3965	broad.mit.edu	37	17	25970616	25970616	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:25970616C>T	ENST00000395473.2	+	5	1978	c.510C>T	c.(508-510)ttC>ttT	p.F170F	LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000413914.2_Silent_p.F113F|LGALS9_ENST00000313648.6_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	170					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CTGTCTGTTTCCCACCCAGGC	0.607000													12	23					0	0	0.006122	0	0
LRRC42	115353	broad.mit.edu	37	1	54418140	54418140	+	Silent	SNP	A	A	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:54418140A>G	ENST00000371370.3	+	3	989	c.468A>G	c.(466-468)cgA>cgG	p.R156R	LRRC42_ENST00000319223.4_Silent_p.R156R	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	156										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTGTTTGCGAAACAGGTGGG	0.478000													15	30					0	0	0.003163	0	0
CNGA2	1260	broad.mit.edu	37	X	150912755	150912755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:150912755G>A	ENST00000329903.4	+	6	1813	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	594					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AACCAGCATGGAGGTCGACGT	0.577000													54	100					0	0	0.003610	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420705	55420705	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:55420705G>T	ENST00000242994.3	+	2	860	c.482G>T	c.(481-483)gGg>gTg	p.G161V		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	161					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTGTGTAAAGGGCTCTCTCAG	0.517000													31	31					1.13719e-10	1.26001e-10	0.008361	1	0
COL18A1	80781	broad.mit.edu	37	21	46888517	46888517	+	Silent	SNP	C	C	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr21:46888517C>G	ENST00000359759.4	+	2	1734	c.1713C>G	c.(1711-1713)ccC>ccG	p.P571P	COL18A1_ENST00000400337.2_Silent_p.P156P|COL18A1_ENST00000355480.5_Silent_p.P336P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	571	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCGGCTCCCCGCCTTCGTCG	0.627000													36	58					0	0	0.004289	0	0
ACTRT3	84517	broad.mit.edu	37	3	169485997	169485997	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:169485997G>A	ENST00000330368.2	-	2	716	c.342C>T	c.(340-342)aaC>aaT	p.N114N		NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN	actin-related protein T3	114						cytoplasm|cytoskeleton											TCTGTTGCCGGTTGGCCAGTG	0.498000													20	5					0	0	0.008871	0	0
EFNA4	1945	broad.mit.edu	37	1	155039320	155039320	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:155039320C>T	ENST00000368409.3	+	2	321	c.228C>T	c.(226-228)taC>taT	p.Y76Y	EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron|EFNA4_ENST00000359751.4_Silent_p.Y76Y|EFNA4_ENST00000427683.2_Silent_p.Y76Y	NM_005227.2	NP_005218.1			ephrin-A4											breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TTGCTTTGTACATGGTGGACT	0.627000													32	25					0	0	0.002836	0	0
TNRC6B	23112	broad.mit.edu	37	22	40521847	40521847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:40521847C>T	ENST00000301923.9	+	3	328	c.26C>T	c.(25-27)tCg>tTg	p.S9L	TNRC6B_ENST00000402203.1_Missense_Mutation_p.S9L	NM_001024843.1	NP_001020014.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	0					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGAGAAGTATCGGAAGAAAGC	0.378000													8	14					0	0	0.006214	0	0
FAT2	2196	broad.mit.edu	37	5	150947900	150947900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:150947900G>A	ENST00000261800.5	-	1	605	c.593C>T	c.(592-594)cCc>cTc	p.P198L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	198	Cadherin 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCGCTGGTGGGATGGATGGC	0.532000													34	50					0	0	0.003271	0	0
FAM163A	148753	broad.mit.edu	37	1	179783102	179783102	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:179783102C>T	ENST00000341785.4	+	5	678	c.282C>T	c.(280-282)caC>caT	p.H94H		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	94						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CCGCGAGCCACTGCACTACCT	0.657000													38	26					0	0	0.003610	0	0
DEDD	9191	broad.mit.edu	37	1	161092181	161092181	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:161092181G>T	ENST00000392188.1	-	6	1037	c.803C>A	c.(802-804)tCc>tAc	p.S268Y	DEDD_ENST00000545495.1_Missense_Mutation_p.S238Y|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Missense_Mutation_p.S238Y|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000458050.2_Missense_Mutation_p.S238Y|DEDD_ENST00000368005.1_Missense_Mutation_p.S268Y			O75618	DEDD_HUMAN	death effector domain containing	238					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGGTCCCGGGACTTGAGGAT	0.522000													52	55					4.45325e-31	5.01444e-31	0.003610	1	0
VANGL2	57216	broad.mit.edu	37	1	160389254	160389254	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:160389254G>C	ENST00000368061.2	+	4	1129	c.655G>C	c.(655-657)Gcc>Ccc	p.A219P		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	219					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGCAGTTCGCCGTGTCGCT	0.622000													78	51					0	0	0.003610	0	0
BMP7	655	broad.mit.edu	37	20	55777679	55777679	+	Splice_Site	SNP	C	C	T	rs142693632		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:55777679C>T	ENST00000395863.3	-	3	1117	c.611_splice	c.e3-1	p.R204_splice	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Splice_Site_p.R204_splice|BMP7_ENST00000395864.3_Splice_Site_p.R204_splice	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	204					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GATCCGATTCCCTGCGAGAGA	0.622000													20	27					0	0	0.008871	0	0
TRAV21	28662	broad.mit.edu	37	14	22521111	22521111	+	RNA	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:22521111C>T	ENST00000390449.3	+	0	139																											ACTGCAGTTTCACTGATAGCG	0.478000													25	38					0	0	0.003954	0	0
GPR141	353345	broad.mit.edu	37	7	37780780	37780780	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:37780780T>C	ENST00000447769.1	+	4	1074	c.785T>C	c.(784-786)gTt>gCt	p.V262A	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.V262A|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	262						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AACAGCAAGGTTGCATTTTAT	0.378000													42	51					0	0	0.008740	0	0
UBXN10	127733	broad.mit.edu	37	1	20517684	20517684	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:20517684G>A	ENST00000375099.3	+	2	714	c.630G>A	c.(628-630)agG>agA	p.R210R		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	210	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CAGGCCAAAGGTTTGTACGCC	0.488000													35	49					0	0	0.006230	0	0
SHKBP1	92799	broad.mit.edu	37	19	41086326	41086326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:41086326C>T	ENST00000291842.5	+	7	546	c.497C>T	c.(496-498)cCc>cTc	p.P166L	SHKBP1_ENST00000600733.1_Missense_Mutation_p.P166L	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	166						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGATGCCCCCCAACCTTGGC	0.627000													12	45					0	0	0.000978	0	0
CNR2	1269	broad.mit.edu	37	1	24202038	24202038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:24202038C>T	ENST00000536471.1	-	3	328	c.70G>A	c.(70-72)Gat>Aat	p.D24N	CNR2_ENST00000374472.4_Missense_Mutation_p.D24N			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	24					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	ATCATGTAATCCTTCATAGGG	0.537000													60	73					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179615521	179615521	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:179615521T>G	ENST00000360870.5	-	46	11828	c.11606A>C	c.(11605-11607)gAa>gCa	p.E3869A	TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9698							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)			AGACACATTTTCAGGAGTCTC	0.368000													26	30					0	0	0.003954	0	0
ZFHX3	463	broad.mit.edu	37	16	72992789	72992789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:72992789G>A	ENST00000268489.5	-	2	1928	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	419					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGCCCCAGGGGGACTGAGGT	0.637000													54	82					0	0	0.003610	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926339	106926339	+	RNA	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:106926339G>A	ENST00000434710.1	-	0	282																											ACTAATAAGAGAGACCCACTC	0.517000													42	48					0	0	0.006999	0	0
FGD5	152273	broad.mit.edu	37	3	14905670	14905670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:14905670C>T	ENST00000285046.5	+	2	2671	c.2561C>T	c.(2560-2562)tCg>tTg	p.S854L	FGD5_ENST00000543601.1_Missense_Mutation_p.S613L	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	854					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						TGTCCCATCTCGTCGGCAGCC	0.532000													24	48					0	0	0.002299	0	0
TIE1	7075	broad.mit.edu	37	1	43786956	43786956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:43786956C>T	ENST00000372476.3	+	20	3203	c.3124C>T	c.(3124-3126)Ctt>Ttt	p.L1042F	TIE1_ENST00000433781.2_Missense_Mutation_p.L687F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1042	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTTGGAGTCCTTCTTTGGGA	0.552000													53	76					0	0	0.003610	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519312	113519312	+	Missense_Mutation	SNP	C	C	T	rs76910192	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:113519312C>T	ENST00000284601.3	-	4	1903	c.1835G>A	c.(1834-1836)gGg>gAg	p.G612E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	612					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCAGTTATCCCTCCTAAAGC	0.393000													43	63					0	0	0.003214	0	0
CHIA	27159	broad.mit.edu	37	1	111854982	111854982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:111854982C>T	ENST00000369740.1	+	4	329	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F	CHIA_ENST00000353665.6_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.L76F	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	76					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	p.L76V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGATGTGACTCTCTACCAAGC	0.453000													33	43					0	0	0.004878	0	0
SLC16A14	151473	broad.mit.edu	37	2	230924038	230924038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:230924038C>T	ENST00000295190.4	-	2	489	c.31G>A	c.(31-33)Gat>Aat	p.D11N		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	11						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCTTCAAAATCATACCCAATA	0.373000													22	30					0	0	0.002299	0	0
MRO	83876	broad.mit.edu	37	18	48335729	48335729	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:48335729G>A	ENST00000428869.2	-	4	300	c.42C>T	c.(40-42)tcC>tcT	p.S14S	MRO_ENST00000436348.2_Intron|MRO_ENST00000256425.2_Silent_p.S14S|MRO_ENST00000588444.1_Silent_p.S14S|MRO_ENST00000587291.1_Intron|MRO_ENST00000398439.3_Silent_p.S14S|MRO_ENST00000431965.2_Intron			Q9BYG7	MSTRO_HUMAN	maestro	14						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		AAGTAGGGATGGAAAGGGGCT	0.428000													15	25					0	0	0.008871	0	0
SCN11A	11280	broad.mit.edu	37	3	38991749	38991749	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:38991749C>T	ENST00000450244.1	-	1	303	c.105G>A	c.(103-105)aaG>aaA	p.K35K	SCN11A_ENST00000444237.2_Silent_p.K35K|SCN11A_ENST00000302328.3_Silent_p.K35K|SCN11A_ENST00000456224.3_Silent_p.K35K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	35					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)	TCTTTTTCTCCTTTTGGATGG	0.512000													59	75					0	0	0.003610	0	0
MXRA8	54587	broad.mit.edu	37	1	1290450	1290450	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:1290450C>T	ENST00000309212.6	-	5	591	c.561G>A	c.(559-561)gtG>gtA	p.V187V	MXRA8_ENST00000342753.4_Silent_p.V86V|MXRA8_ENST00000445648.2_Silent_p.V187V	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	187	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCCGCGGTTCACGCAGGTCA	0.766000													7	3					0	0	0.008291	0	0
SLC6A1	6529	broad.mit.edu	37	3	11061952	11061952	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:11061952C>T	ENST00000287766.4	+	6	946	c.525C>T	c.(523-525)tcC>tcT	p.S175S	SLC6A1_ENST00000536032.1_5'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	175					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCTGCTTCTCCAACTACAGCA	0.592000													9	9					0	0	0.006214	0	0
VWC2L	402117	broad.mit.edu	37	2	215279114	215279114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:215279114G>A	ENST00000312504.5	+	2	999	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.R66Q	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	66	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGGGAGAACGATTTTTCCCT	0.458000													16	21					0	0	0.004990	0	0
M1AP	130951	broad.mit.edu	37	2	74842097	74842097	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:74842097G>A	ENST00000290536.5	-	3	536	c.420C>T	c.(418-420)tcC>tcT	p.S140S	M1AP_ENST00000536235.1_Silent_p.S140S|M1AP_ENST00000409585.1_Silent_p.S140S|M1AP_ENST00000358434.2_5'UTR	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TTACCTCCAGGGAGGTATAGG	0.468000													18	25					0	0	0.004990	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991400	52991400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:52991400G>A	ENST00000371544.3	-	2	815	c.553C>T	c.(553-555)Cca>Tca	p.P185S	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P185S|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.P185S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	185					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AAGGAGCTTGGAATTTTTTTT	0.408000													62	110					0	0	0.003610	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340161	29340161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:29340161G>A	ENST00000269205.5	-	1	682	c.494C>T	c.(493-495)aCc>aTc	p.T165I	SLC25A52_ENST00000579441.2_Missense_Mutation_p.T155I	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	155					transport	integral to membrane|mitochondrial inner membrane											ATAAGTGTTGGTAAATTTGTC	0.463000													47	56					0	0	0.002852	0	0
RASD2	23551	broad.mit.edu	37	22	35947777	35947777	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:35947777G>C	ENST00000216127.4	+	3	1141	c.499G>C	c.(499-501)Gcc>Ccc	p.A167P		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	167					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CGAGAACTGCGCCTACTTCGA	0.627000													12	19					0	0	0.001368	0	0
BAHD1	22893	broad.mit.edu	37	15	40751525	40751525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:40751525C>T	ENST00000561234.1	+	2	1121	c.862C>T	c.(862-864)Cct>Tct	p.P288S	BAHD1_ENST00000416165.1_Missense_Mutation_p.P288S|BAHD1_ENST00000560846.1_Missense_Mutation_p.P288S			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	288	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ATCTGCAACTCCTTGTGGGCC	0.642000													25	37					0	0	0.005443	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057665	63057665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:63057665G>A	ENST00000332793.6	+	1	30	c.28G>A	c.(28-30)Gtt>Att	p.V10I	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	10						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGAGTCAAGTTGGAGGCCT	0.438000													18	27					0	0	0.006122	0	0
EFNA4	1945	broad.mit.edu	37	1	155039319	155039319	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:155039319A>T	ENST00000368409.3	+	2	320	c.227A>T	c.(226-228)tAc>tTc	p.Y76F	EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron|EFNA4_ENST00000359751.4_Missense_Mutation_p.Y76F|EFNA4_ENST00000427683.2_Missense_Mutation_p.Y76F	NM_005227.2	NP_005218.1			ephrin-A4											breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TTTGCTTTGTACATGGTGGAC	0.627000													32	25					0	0	0.002836	0	0
CCNB2	9133	broad.mit.edu	37	15	59406661	59406661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:59406661G>A	ENST00000288207.2	+	4	477	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CCNB2_ENST00000559622.1_Missense_Mutation_p.E15K	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	96					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TCCCACACCTGAGGATGTCTC	0.443000													32	43					0	0	0.005524	0	0
CEP164	22897	broad.mit.edu	37	11	117209316	117209316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:117209316C>T	ENST00000278935.3	+	3	161	c.14C>T	c.(13-15)cCc>cTc	p.P5L		NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	5	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GCTGGACGACCCCTCCGCATA	0.493000													44	58					0	0	0.003610	0	0
HPD	3242	broad.mit.edu	37	12	122296617	122296617	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:122296617C>T	ENST00000289004.4	-	2	41	c.6G>A	c.(4-6)acG>acA	p.T2T	HPD_ENST00000543163.1_5'UTR	NM_002150.2	NP_002141.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	2					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CACTGTAAGTCGTCTAAGGAG	0.522000													22	38					0	0	0.001882	0	0
FBXO38	81545	broad.mit.edu	37	5	147785841	147785841	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:147785841A>T	ENST00000340253.5	+	7	920	c.752A>T	c.(751-753)tAt>tTt	p.Y251F	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Missense_Mutation_p.Y251F|FBXO38_ENST00000394370.3_Missense_Mutation_p.Y251F|FBXO38_ENST00000513826.1_Missense_Mutation_p.Y251F			Q6PIJ6	FBX38_HUMAN	F-box protein 38	251						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTGAAATATGTCCCTTTA	0.358000													29	39					0	0	0.008361	0	0
RASEF	158158	broad.mit.edu	37	9	85607903	85607903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:85607903C>T	ENST00000376447.3	-	15	2218	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	653					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AGCCTTGTTTCCTACCAGCAT	0.483000													39	8					0	0	0.004289	0	0
OR8D2	283160	broad.mit.edu	37	11	124189897	124189897	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:124189897A>G	ENST00000357438.2	-	1	287	c.197T>C	c.(196-198)tTg>tCg	p.L66S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AATGAAAGACAAATGACTGAG	0.418000													23	30					0	0	0.003954	0	0
ATP11C	286410	broad.mit.edu	37	X	138864759	138864759	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:138864759G>A	ENST00000370557.1	-	18	2926	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	ATP11C_ENST00000327569.3_Silent_p.F636F|ATP11C_ENST00000370543.1_Silent_p.F636F|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Silent_p.F636F|ATP11C_ENST00000359686.2_Silent_p.F636F			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	636					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAATATCATCGAAAACTTTTT	0.328000													27	33					0	0	0.005443	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679273	37679273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:37679273C>T	ENST00000379800.3	-	1	530	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	41	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCTACGTCCTCGCCGTTGGTG	0.537000													27	44					0	0	0.005443	0	0
NOL4	8715	broad.mit.edu	37	18	31537311	31537311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:31537311C>T	ENST00000261592.5	-	8	1704	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.M184I|NOL4_ENST00000538587.1_Missense_Mutation_p.M395I|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	469						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						CACTTCTTTTCATCCGCCTGC	0.423000													26	44					0	0	0.001786	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145770964	145770964	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:145770964G>A	ENST00000276826.5	-	5	2391	c.2190C>T	c.(2188-2190)ccC>ccT	p.P730P	ARHGAP39_ENST00000540274.1_Silent_p.P730P|ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Silent_p.P730P			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	730	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCACGATCATGGGCTTCTTGA	0.617000													44	36					0	0	0.008740	0	0
SOAT2	8435	broad.mit.edu	37	12	53512134	53512134	+	Splice_Site	SNP	G	G	A	rs141651111	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:53512134G>A	ENST00000301466.3	+	8	839	c.778_splice	c.e8-1	p.G260_splice		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	260					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TCCTCCCCAGGTGAGGGGATC	0.577000													20	28					0	0	0.008871	0	0
TRPV6	55503	broad.mit.edu	37	7	142575028	142575028	+	Silent	SNP	C	C	T	rs145023704		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:142575028C>T	ENST00000359396.3	-	4	599	c.354G>A	c.(352-354)caG>caA	p.Q118Q	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	118					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCAGTGCAGTCTGACCTGGCC	0.622000													51	6					0	0	0.003610	0	0
HBB	3043	broad.mit.edu	37	11	5247992	5247992	+	Missense_Mutation	SNP	C	C	T	rs41417446		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:5247992C>T	ENST00000335295.3	-	2	305	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	44			E -> Q (in Hoshida/Chaya).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CCAAAGGACTCAAAGAACCTC	0.527000									Sickle Cell Trait				28	34					0	0	0.001786	0	0
TRPC4	7223	broad.mit.edu	37	13	38266349	38266349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:38266349G>A	ENST00000379705.3	-	4	1878	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	TRPC4_ENST00000379673.2_Missense_Mutation_p.P341S|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341S|TRPC4_ENST00000379681.3_Missense_Mutation_p.P341S|TRPC4_ENST00000338947.5_Missense_Mutation_p.P168S|TRPC4_ENST00000379679.1_Missense_Mutation_p.P168S|TRPC4_ENST00000355779.2_Missense_Mutation_p.P341S|TRPC4_ENST00000447043.1_Missense_Mutation_p.P341S|TRPC4_ENST00000358477.2_Missense_Mutation_p.P341S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	341					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAGAAGACAGGAAAAAGAAGT	0.473000													12	21					0	0	0.001368	0	0
SENP3	26168	broad.mit.edu	37	17	7467989	7467989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:7467989C>T	ENST00000321337.7	+	3	1083	c.763C>T	c.(763-765)Cca>Tca	p.P255S	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Missense_Mutation_p.P255S	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	255					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				ACAATCTGGGCCAGAAGGGGA	0.587000													14	39					0	0	0.002450	0	0
SOX4	6659	broad.mit.edu	37	6	21595096	21595096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:21595096G>A	ENST00000244745.1	+	1	1125	c.331G>A	c.(331-333)Gag>Aag	p.E111K	SOX4_ENST00000543472.1_Missense_Mutation_p.E111K	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	111					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TTTCATTCGAGAGGCGGAGCG	0.602000													12	5					0	0	0.000978	0	0
PLG	5340	broad.mit.edu	37	6	161152796	161152796	+	Silent	SNP	G	G	A	rs141539231		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:161152796G>A	ENST00000308192.9	+	12	1521	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	486	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.G486G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTGGGAATGGGAAAGGATACC	0.498000													28	8					0	0	0.007291	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433084	140433084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140433084C>T	ENST00000306549.3	+	1	2106	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		677					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGGATCCAACCAAGCA	0.448000													59	69					0	0	0.003610	0	0
MARCO	8685	broad.mit.edu	37	2	119727775	119727775	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:119727775C>T	ENST00000541757.1	+	4	431	c.51C>T	c.(49-51)tcC>tcT	p.S17S	MARCO_ENST00000327097.4_Silent_p.S95S			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	95					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CGTCCTTCTCCTTGCTGCAGT	0.627000													38	34					0	0	0.006999	0	0
CAPS2	84698	broad.mit.edu	37	12	75672694	75672694	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:75672694G>A	ENST00000393284.3	-	17	1726	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409445.3_Intron|CAPS2_ENST00000442339.2_Silent_p.I197I|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000409799.1_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	0							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GAGTACGTAAGATGTTAACAA	0.333000													22	22					0	0	0.001523	0	0
APOB	338	broad.mit.edu	37	2	21238130	21238130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:21238130C>T	ENST00000233242.1	-	23	3638	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1171					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.E1171K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCTTCTCTTCATCTGAAAAT	0.408000													139	198					0	0	0.003610	0	0
TRAV19	28664	broad.mit.edu	37	14	22476215	22476215	+	RNA	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:22476215G>A	ENST00000390447.3	+	0	262																											TGAAACCCGTGATACTACTTA	0.428000													17	21					0	0	0.004990	0	0
SLC9C1	285335	broad.mit.edu	37	3	111996575	111996575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:111996575G>A	ENST00000305815.5	-	5	703	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P151S	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	151					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.P151T(1)									GTTAGCATGGGATCTGAACTC	0.318000													46	35					0	0	0.003610	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997405	19997405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:19997405C>T	ENST00000391403.2	-	1	473	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	124						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GATTTCTCTTCTTTTAACTCT	0.378000													58	84					0	0	0.003610	0	0
TECTA	7007	broad.mit.edu	37	11	121008491	121008491	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:121008491C>T	ENST00000392793.1	+	11	3574	c.3303C>T	c.(3301-3303)atC>atT	p.I1101I	TECTA_ENST00000264037.2_Silent_p.I1101I			O75443	TECTA_HUMAN	tectorin alpha	1101	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTCCTGCATCGTCTCAGGCT	0.587000													22	24					0	0	0.001523	0	0
CSPP1	79848	broad.mit.edu	37	8	68049808	68049808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:68049808C>T	ENST00000262210.5	+	15	1961	c.1930C>T	c.(1930-1932)Cct>Tct	p.P644S	CSPP1_ENST00000412460.1_Missense_Mutation_p.P350S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	679						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGGTGGTGCTCCTCTCAGGGA	0.338000													12	11					0	0	0.001368	0	0
ATG2A	23130	broad.mit.edu	37	11	64676581	64676581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:64676581C>T	ENST00000421419.2	-	16	2360	c.2246G>A	c.(2245-2247)tGg>tAg	p.W749*	ATG2A_ENST00000377264.3_Nonsense_Mutation_p.W749*			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	749							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCCACCTCCCACTGTGTGCT	0.647000													13	32					0	0	0.003163	0	0
ERCC5	2073	broad.mit.edu	37	13	103525627	103525627	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:103525627C>T	ENST00000355739.4	+	14	4321	c.2898C>T	c.(2896-2898)ttC>ttT	p.F966F	ERCC5_ENST00000375954.1_Silent_p.F199F	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGCGGTATTTCGGCTGGAACA	0.383000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				44	67					0	0	0.003610	0	0
CES2	8824	broad.mit.edu	37	16	66975424	66975424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:66975424C>T	ENST00000317091.4	+	7	2107	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	CES2_ENST00000417689.1_Missense_Mutation_p.P375S	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	311					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CAAGATGATCCCCGGAGTGGT	0.567000													18	29					0	0	0.001523	0	0
ATF6B	1388	broad.mit.edu	37	6	32085370	32085370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:32085370G>A	ENST00000375201.4	-	13	1562	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	ATF6B_ENST00000375203.3_Missense_Mutation_p.S509F			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	509					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ACACCTCAGGGACTCAGTGCG	0.602000													118	96					0	0	0.003610	0	0
SMURF2	64750	broad.mit.edu	37	17	62553786	62553786	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:62553786G>A	ENST00000262435.9	-	13	1558	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	457	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTGAATACTGGAAGAGGCCAT	0.333000													35	50					0	0	0.004878	0	0
NRK	203447	broad.mit.edu	37	X	105178249	105178249	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:105178249G>A	ENST00000428173.2	+	20	3618		c.e20-1		NRK_ENST00000243300.9_Splice_Site			Q7Z2Y5	NRK_HUMAN	Nik related kinase								ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACTTCTTTTAGGAGCCAGGTG	0.418000										HNSCC(51;0.14)			34	49					0	0	0.004289	0	0
TRPC5	7224	broad.mit.edu	37	X	111090435	111090435	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:111090435T>C	ENST00000262839.2	-	6	2525	c.1607A>G	c.(1606-1608)aAc>aGc	p.N536S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	536					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTAAAGCTGGTTCAGTCCATT	0.448000													54	78					0	0	0.003610	0	0
MYH11	4629	broad.mit.edu	37	16	15931898	15931898	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:15931898A>T	ENST00000338282.6	-	2	318	c.212T>A	c.(211-213)gTt>gAt	p.V71D	MYH11_ENST00000452625.2_Missense_Mutation_p.V71D|MYH11_ENST00000576790.1_Missense_Mutation_p.V71D|MYH11_ENST00000396324.3_Missense_Mutation_p.V71D|MYH11_ENST00000300036.5_Missense_Mutation_p.V71D	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	71	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATCTTTCCCAACCGTGACCTT	0.572000			T	CBFB	AML								81	111					0	0	0.003610	0	0
PLK2	10769	broad.mit.edu	37	5	57750791	57750791	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:57750791A>C	ENST00000274289.3	-	13	2113	c.1813T>G	c.(1813-1815)Tgg>Ggg	p.W605G	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	605					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GATTTTAGCCACTGAAGGAGG	0.428000													75	129					0	0	0.003610	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358311	16358311	+	Missense_Mutation	SNP	A	A	G	rs139001368		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:16358311A>G	ENST00000375692.1	+	17	1857	c.1729A>G	c.(1729-1731)Acc>Gcc	p.T577A	CLCNKA_ENST00000420078.1_Missense_Mutation_p.T577A|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.T577A|CLCNKA_ENST00000439316.2_Missense_Mutation_p.T534A			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	577	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CACAGACGTGACCGAGTATCC	0.607000													4	62					0	0	0.000248	0	0
BTNL8	79908	broad.mit.edu	37	5	180326349	180326349	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:180326349G>A	ENST00000400707.3	+	0	228				BTNL8_ENST00000340184.4_Silent_p.K13K|BTNL8_ENST00000231229.4_Silent_p.K13K|BTNL8_ENST00000511704.1_Silent_p.K13K|BTNL8_ENST00000508408.1_Silent_p.K13K	NM_001159709.1	NP_001153181.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8							integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCTCCTCAAGCTGGGATCAG	0.458000													105	136					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82582113	82582113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:82582113C>T	ENST00000423517.2	-	5	8493	c.8156G>A	c.(8155-8157)gGa>gAa	p.G2719E	PCLO_ENST00000333891.8_Missense_Mutation_p.G2719E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2650					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCAATTTTCCATCTTCTTT	0.373000													15	14					0	0	0.003163	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728345	104728345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:104728345G>A	ENST00000372582.1	+	6	1494	c.738G>A	c.(736-738)atG>atA	p.M246I	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.M246I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	246	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTTCCCCATGGAGAATCAGC	0.413000													36	53					0	0	0.008740	0	0
TSSC2	650368	broad.mit.edu	37	11	3426099	3426099	+	RNA	SNP	G	G	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:3426099G>C	ENST00000529482.1	+	0	845																											GGGCCTCCGAGGGAGTATTAC	0.597000													5	47					0	0	0.004482	0	0
ABCC8	6833	broad.mit.edu	37	11	17483244	17483244	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:17483244G>A	ENST00000302539.4	-	5	833	c.708C>T	c.(706-708)ttC>ttT	p.F236F	ABCC8_ENST00000389817.3_Silent_p.F236F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	236					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CAGTCTTGATGAAGGCGTTCA	0.602000													243	308					0	0	0.003610	0	0
COL6A6	131873	broad.mit.edu	37	3	130345347	130345347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:130345347G>A	ENST00000358511.6	+	24	4928	c.4897G>A	c.(4897-4899)Gga>Aga	p.G1633R	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1633R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1633	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGGAGATCTGGGAGAAAAAGG	0.413000													32	48					0	0	0.002445	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522294	144522294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:144522294G>A	ENST00000262577.5	-	11	2763	c.2732C>T	c.(2731-2733)tCc>tTc	p.S911F		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	911					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGAGATGAAGGAAGGCAGCTT	0.667000													26	17					0	0	0.004656	0	0
CLOCK	9575	broad.mit.edu	37	4	56325372	56325372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:56325372C>T	ENST00000309964.4	-	9	866	c.616G>A	c.(616-618)Gag>Aag	p.E206K	CLOCK_ENST00000513440.1_Missense_Mutation_p.E206K|CLOCK_ENST00000381322.1_Missense_Mutation_p.E206K	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	206					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GTAGATGGCTCCTTTGGGTCT	0.294000													20	26					0	0	0.001882	0	0
SOHLH2	54937	broad.mit.edu	37	13	36788623	36788623	+	Missense_Mutation	SNP	G	G	A	rs12873478		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:36788623G>A	ENST00000379881.3	-	1	129	c.41C>T	c.(40-42)tCg>tTg	p.S14L	CCDC169-SOHLH2_ENST00000511166.1_Intron|SOHLH2_ENST00000554962.1_Intron|SOHLH2_ENST00000317764.6_Missense_Mutation_p.S14L	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TACCTGGCCCGAGATCTGGCA	0.672000													9	17					0	0	0.000978	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223937	142223937	+	RNA	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:142223937G>A	ENST00000390367.3	-	0	246																											AGGCAACTGTGAATCATCTAC	0.517000													36	20					0	0	0.003755	0	0
HHIP	64399	broad.mit.edu	37	4	145636452	145636452	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:145636452G>A	ENST00000296575.3	+	10	2203	c.1547_splice	c.e10-1	p.G516_splice		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	516						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCTGTTGTAGGAATTTCCTAA	0.373000													17	23					0	0	0.006122	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:219449406C>T	ENST00000273064.6	+	4	767	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_ENST00000542068.1_Missense_Mutation_p.P131L|RQCD1_ENST00000509807.2_Missense_Mutation_p.P131L|RQCD1_ENST00000295701.5_Missense_Mutation_p.P131L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000													104	118					0	0	0.003610	0	0
OR10T2	128360	broad.mit.edu	37	1	158369042	158369042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:158369042G>A	ENST00000334438.1	-	1	214	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGTGTAGCAGGACTCAGAAAA	0.502000													36	21					0	0	0.004289	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862791	9862791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:9862791C>T	ENST00000396573.2	-	13	2821	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.E838K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E838K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E838K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E838K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E681K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	838					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			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)	AAGAGGTGCTCCCAGATGAAG	0.592000													27	30					0	0	0.003954	0	0
JPH3	57338	broad.mit.edu	37	16	87717753	87717753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:87717753C>T	ENST00000284262.2	+	3	1408	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	389	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCCAGGACCTCCCACTCTCGG	0.662000													12	14					0	0	0.001855	0	0
TDG	6996	broad.mit.edu	37	12	104373635	104373635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:104373635C>T	ENST00000392872.3	+	3	427	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.P61S	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	65					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAAAGAAAACCCAGAACAAC	0.333000								Base excision repair (BER), DNA glycosylases					4	31					0	0	0.000248	0	0
SPTLC3	55304	broad.mit.edu	37	20	13134715	13134715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:13134715G>A	ENST00000399002.2	+	10	1619	c.1345G>A	c.(1345-1347)Gga>Aga	p.G449R	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	449					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCAGGAAATGGGATTCATTAT	0.423000													29	34					0	0	0.005443	0	0
ZNF676	163223	broad.mit.edu	37	19	22363491	22363491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:22363491C>T	ENST00000397121.2	-	3	1345	c.1028G>A	c.(1027-1029)gGg>gAg	p.G343E		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G343A(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAAGCTTTCCCGCATTCTTC	0.408000													15	43					0	0	0.003163	0	0
FAM170A	340069	broad.mit.edu	37	5	118969986	118969986	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:118969986C>T	ENST00000515256.1	+	3	715	c.543C>T	c.(541-543)ctC>ctT	p.L181L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	181						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CCAGAAACCTCCTGTCTGACA	0.547000													39	54					0	0	0.008740	0	0
PRSS54	221191	broad.mit.edu	37	16	58314215	58314215	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:58314215C>T	ENST00000219301.4	-	7	1495	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000543437.1_Silent_p.R268R|PRSS54_ENST00000567164.1_Silent_p.R367R|CCDC113_ENST00000219299.4_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	367					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCAAAAATCCTACCTTCCC	0.473000													18	19					0	0	0.006122	0	0
MOV10L1	54456	broad.mit.edu	37	22	50563824	50563824	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:50563824C>T	ENST00000262794.5	+	11	1656	c.1573C>T	c.(1573-1575)Ctg>Ttg	p.L525L	MOV10L1_ENST00000395858.3_Silent_p.L525L|MOV10L1_ENST00000540615.1_Silent_p.L505L|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.L525L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	525					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.L525L(1)|p.L505L(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTTCCAGCTTCTGAACATGTC	0.438000													21	32					0	0	0.001523	0	0
TMCO3	55002	broad.mit.edu	37	13	114164616	114164616	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr13:114164616C>T	ENST00000434316.2	+	7	1461	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	TMCO3_ENST00000375391.1_Silent_p.L368L|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	368						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ATTTGGCTTGCTGTGGGGGCA	0.493000													45	58					0	0	0.003610	0	0
OC90	729330	broad.mit.edu	37	8	133036941	133036941	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:133036941G>A	ENST00000262283.5	-	18	1956	c.1857C>T	c.(1855-1857)aaC>aaT	p.N619N	OC90_ENST00000603859.1_Silent_p.N407N|OC90_ENST00000443356.2_Silent_p.N423N|OC90_ENST00000254627.3_Silent_p.N407N			Q02509	OC90_HUMAN	otoconin 90	423					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGAGGCTTTGGTTAAAGGAGG	0.617000													19	15					0	0	0.008871	0	0
C8orf34	116328	broad.mit.edu	37	8	69434100	69434100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:69434100G>A	ENST00000337103.4	+	5	2091	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	C8orf34_ENST00000348340.2_Missense_Mutation_p.E192K|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.E278K|C8orf34_ENST00000539993.1_Missense_Mutation_p.E192K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	192					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGGTAGAGAAGAAAATGATGC	0.428000													18	29					0	0	0.001523	0	0
SPINT1	6692	broad.mit.edu	37	15	41146840	41146840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:41146840C>T	ENST00000344051.4	+	8	1352	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	SPINT1_ENST00000431806.1_Missense_Mutation_p.T357M|SPINT1_ENST00000562057.1_Missense_Mutation_p.T357M			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	373						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TCTGCAGACACGAGTGGCTTT	0.607000													32	43					0	0	0.003271	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618462	175618462	+	Missense_Mutation	SNP	C	C	T	rs145421881		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:175618462C>T	ENST00000348749.5	-	6	624	c.547G>A	c.(547-549)Gac>Aac	p.D183N	CHRNA1_ENST00000261007.5_Missense_Mutation_p.D208N|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Missense_Mutation_p.D183N|CHRNA1_ENST00000409219.1_Missense_Mutation_p.D183N|CHRNA1_ENST00000409542.1_Missense_Mutation_p.D101N	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	208					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TCTGGCTGGTCGCTTTCCTGA	0.572000													7	12					0	0	0.003080	0	0
THSD7B	80731	broad.mit.edu	37	2	137917931	137917931	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:137917931G>A	ENST00000409968.1	+	6	1696	c.1518G>A	c.(1516-1518)ggG>ggA	p.G506G	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Silent_p.G506G|THSD7B_ENST00000413152.2_Silent_p.G475G|THSD7B_ENST00000543459.1_Intron					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)		ATCCTCAGGGGAAAAAAGGTG	0.468000													15	31					0	0	0.006122	0	0
LINC00173	100287569	broad.mit.edu	37	12	116972508	116972508	+	RNA	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:116972508C>T	ENST00000480237.1	+	0	779					NR_027345.1																						ACAGTGCCATCATTTACTGCC	0.458000													16	39					0	0	0.003163	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148791	103148791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:103148791G>A	ENST00000295269.4	+	12	2498	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	681					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTTCCTAGATGATGACAGCAG	0.443000													38	52					0	0	0.002522	0	0
OR4C6	219432	broad.mit.edu	37	11	55433566	55433566	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:55433566G>A	ENST00000314259.3	+	1	953	c.924G>A	c.(922-924)ggG>ggA	p.G308G		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTTTGGCTGGGAAATAACTGC	0.423000													10	14					0	0	0.006214	0	0
DNAH5	1767	broad.mit.edu	37	5	13770902	13770902	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:13770902G>A	ENST00000265104.4	-	56	9665	c.9561C>T	c.(9559-9561)ttC>ttT	p.F3187F	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3187	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCCATATATGAACTTATAGC	0.458000									Kartagener syndrome				17	40					0	0	0.006122	0	0
FAM83B	222584	broad.mit.edu	37	6	54804573	54804573	+	Silent	SNP	C	C	T	rs142915319	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:54804573C>T	ENST00000306858.7	+	5	920	c.804C>T	c.(802-804)tcC>tcT	p.S268S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	268										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGTTGAGTCCTTTGATGAAG	0.403000													31	38					0	0	0.003271	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884669	228884669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:228884669G>A	ENST00000392056.3	-	7	947	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P301S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	301						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)		TTGGCTGAGGGATCTAGACTC	0.403000													72	83					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13714710	13714710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:13714710C>T	ENST00000265104.4	-	75	13033	c.12929G>A	c.(12928-12930)aGc>aAc	p.S4310N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4310					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACCTCAGGGCTGTCATAGGC	0.502000									Kartagener syndrome				18	23					0	0	0.006122	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81066066	81066066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:81066066C>T	ENST00000334512.5	+	22	3205	c.2633C>T	c.(2632-2634)cCa>cTa	p.P878L	ZMIZ1_ENST00000446377.2_Missense_Mutation_p.P31L	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	878	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCGCCTCCCCCAGGGGGCACC	0.642000													32	7					0	0	0.001786	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540517	169540517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:169540517G>A	ENST00000340806.6	+	1	808	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	270										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAACCGCCTGGAGAAGGTGCC	0.622000													15	2					0	0	0.003163	0	0
FRMD7	90167	broad.mit.edu	37	X	131216398	131216398	+	Missense_Mutation	SNP	G	G	A	rs139411571	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:131216398G>A	ENST00000298542.4	-	9	1073	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	FRMD7_ENST00000464296.1_Missense_Mutation_p.R285C|FRMD7_ENST00000370879.1_Missense_Mutation_p.R180C	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	300					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TACCTATAGCGGAAACTGGAA	0.438000													172	253					0	0	0.003610	0	0
DMD	1756	broad.mit.edu	37	X	32407792	32407792	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:32407792C>T	ENST00000357033.4	-	32	4551		c.e32-1		DMD_ENST00000378677.2_Splice_Site	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTAATTTTTTCTGTAAGGACA	0.328000													28	67					0	0	0.005443	0	0
ALB	213	broad.mit.edu	37	4	74283809	74283809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:74283809C>T	ENST00000295897.4	+	12	1522	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.S286F|ALB_ENST00000503124.1_Missense_Mutation_p.S328F|ALB_ENST00000401494.3_Missense_Mutation_p.S363F|ALB_ENST00000509063.1_Missense_Mutation_p.S478F	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	478	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.S478F(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CTTTAGCTATCCGTGGTCCTG	0.443000											OREG0007698	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ALB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	18	38					0	0	0.006122	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158798	18158798	+	Missense_Mutation	SNP	G	G	A	rs143238196		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:18158798G>A	ENST00000396275.2	+	3	410	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	17						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G17R(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACCAATCAACGGACGTGAGGA	0.537000													44	86					0	0	0.003610	0	0
DOCK2	1794	broad.mit.edu	37	5	169423153	169423153	+	Silent	SNP	G	G	A	rs150071550	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:169423153G>A	ENST00000256935.8	+	30	3137	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T	DOCK2_ENST00000540750.1_Silent_p.T80T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.T511T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1019	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGAACACACGAACTTTGAGT	0.502000													20	33					0	0	0.002780	0	0
LGALS9	3965	broad.mit.edu	37	17	25974412	25974412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:25974412G>A	ENST00000395473.2	+	10	2343	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	LGALS9_ENST00000310394.5_Missense_Mutation_p.R248Q|LGALS9_ENST00000302228.5_Missense_Mutation_p.R260Q|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	292	Beta-galactoside binding 2 (By similarity).|Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TCTGAGGAGCGAAGTCTGCCC	0.597000													15	21					0	0	0.003163	0	0
GABRE	2564	broad.mit.edu	37	X	151123445	151123445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:151123445C>T	ENST00000370328.3	-	9	1302	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CGCTCCTCTCCATCACTTCCC	0.642000													8	9					0	0	0.003080	0	0
AQP1	358	broad.mit.edu	37	7	30962230	30962230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:30962230G>A	ENST00000311813.4	+	3	656	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	AQP1_ENST00000409899.1_Missense_Mutation_p.V86M|AQP1_ENST00000409611.1_Missense_Mutation_p.V150M|AQP1_ENST00000441328.2_Missense_Mutation_p.V118M|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.V378M|AQP1_ENST00000434909.2_Missense_Mutation_p.V261M	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				TGGCTCCGCGGTGATCACACA	0.577000													112	131					0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38791338	38791338	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:38791338G>A	ENST00000359357.3	+	26	3324	c.3069_splice	c.e26-1	p.E1024_splice	DNAH8_ENST00000449981.2_Splice_Site_p.E1241_splice|DNAH8_ENST00000441566.1_Splice_Site_p.E1024_splice					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						CTTACCACAGGAATTTTTGGC	0.308000													40	25					0	0	0.003214	0	0
PLXNA3	55558	broad.mit.edu	37	X	153699655	153699655	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:153699655G>A	ENST00000369682.3	+	31	5539	c.5364G>A	c.(5362-5364)gtG>gtA	p.V1788V		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1788					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGAGCTGGGTGGAGAGGTGGG	0.657000													51	60					0	0	0.003610	0	0
MET	4233	broad.mit.edu	37	7	116436101	116436101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:116436101C>T	ENST00000397752.3	+	21	4296	c.4096C>T	c.(4096-4098)Cct>Tct	p.P1366S	MET_ENST00000539704.1_Missense_Mutation_p.P236S|MET_ENST00000318493.6_Missense_Mutation_p.P1384S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1366	Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGCTCCGTATCCTTCTCTGTT	0.468000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				54	80					0	0	0.003610	0	0
KLRD1	3824	broad.mit.edu	37	12	10467363	10467363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:10467363C>T	ENST00000381908.3	+	6	774	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	KLRD1_ENST00000336164.4_Missense_Mutation_p.R171C|KLRD1_ENST00000350274.5_Missense_Mutation_p.R140C|KLRD1_ENST00000381907.4_Missense_Mutation_p.R171C|KLRD1_ENST00000543777.1_Missense_Mutation_p.R150C|KLRD1_ENST00000543420.1_3'UTR			Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	171	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						AGATAAAAATCGTTATATCTG	0.333000													31	44					0	0	0.001786	0	0
PCDH18	54510	broad.mit.edu	37	4	138442574	138442574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:138442574G>A	ENST00000344876.4	-	4	3403	c.3017C>T	c.(3016-3018)tCg>tTg	p.S1006L	PCDH18_ENST00000511115.1_Missense_Mutation_p.S186L|PCDH18_ENST00000510305.1_Missense_Mutation_p.S217L|PCDH18_ENST00000507846.1_Missense_Mutation_p.S785L|PCDH18_ENST00000412923.2_Missense_Mutation_p.S1005L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1006	Interaction with DAB1 (By similarity).				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)					GCTCATTTCCGAGAGCAGAGA	0.527000													25	24					0	0	0.007291	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478632	21478632	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:21478632A>C	ENST00000281523.2	-	5	1021	c.503T>G	c.(502-504)gTt>gGt	p.V168G	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	168	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGTTGTCATAACACTGCTTTT	0.443000													41	65					0	0	0.002852	0	0
CATSPERB	79820	broad.mit.edu	37	14	92170938	92170938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:92170938C>T	ENST00000256343.3	-	7	730	c.574G>A	c.(574-576)Gat>Aat	p.D192N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	192					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)				AATGCCACATCATTGGCACAG	0.383000													35	60					0	0	0.002445	0	0
WBP11	51729	broad.mit.edu	37	12	14943565	14943565	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:14943565G>A	ENST00000261167.2	-	10	1367	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	WBP11_ENST00000537574.1_Silent_p.S378S	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	378					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CATCAGAATGGGATTCCTCTT	0.498000													23	31					0	0	0.002780	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907865	12907865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:12907865C>T	ENST00000317869.6	-	2	503	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACCTGCGTTTCCTCGGTTCAC	0.483000													15	94					0	0	0.004007	0	0
DOCK1	1793	broad.mit.edu	37	10	129237477	129237477	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:129237477C>T	ENST00000280333.6	+	49	5293	c.5184C>T	c.(5182-5184)atC>atT	p.I1728I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1728					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGGCTGTGATCCTTTCGGAAA	0.502000													4	2					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179433574	179433574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:179433574G>A	ENST00000589042.1	-	326	77509	c.77285C>T	c.(77284-77286)aCt>aTt	p.T25762I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T24121I|TTN_ENST00000342175.6_Missense_Mutation_p.T16889I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T16697I|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T23194I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T16822I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24121	Fibronectin type-III 87.						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)			TTCCCCTTGAGTTAGGTTGGT	0.403000													48	43					0	0	0.003610	0	0
ZW10	9183	broad.mit.edu	37	11	113604494	113604494	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:113604494G>A	ENST00000200135.3	-	16	2406	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	754					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTACTTCACTGGAAGAGAACG	0.423000													37	26					0	0	0.003271	0	0
AMER1	139285	broad.mit.edu	37	X	63410355	63410355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:63410355C>T	ENST00000330258.3	-	2	3084	c.2812G>A	c.(2812-2814)Gga>Aga	p.G938R	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTCCATTCTCCTTCTTCCTCC	0.587000													33	26					0	0	0.004289	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093385	30093385	+	RNA	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:30093385C>T	ENST00000567636.1	+	0	1760					NR_003558.1																						GATCTGCCCCCCTGGGCTTTT	0.498000													14	26					0	0	0.001855	0	0
MYH6	4624	broad.mit.edu	37	14	23855281	23855281	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:23855281G>A	ENST00000405093.3	-	34	5089	c.5019C>T	c.(5017-5019)atC>atT	p.I1673I	MYH6_ENST00000356287.3_Silent_p.I1673I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1673					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCACGATGGCGATGTTCTCCT	0.647000													15	38					0	0	0.002450	0	0
DENND3	22898	broad.mit.edu	37	8	142151390	142151390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:142151390C>T	ENST00000519811.1	+	4	660	c.590C>T	c.(589-591)cCc>cTc	p.P197L	DENND3_ENST00000262585.2_Missense_Mutation_p.P117L|DENND3_ENST00000518347.1_Missense_Mutation_p.P197L|DENND3_ENST00000424248.1_Missense_Mutation_p.P117L			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	117	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCAGGTTTCCCTATTACAAC	0.582000													58	120					0	0	0.003610	0	0
TENM1	10178	broad.mit.edu	37	X	123657415	123657415	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:123657415G>A	ENST00000422452.2	-	17	2895	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F	TENM1_ENST00000371130.3_Silent_p.F944F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCTCAGGCAGGAAAGGGGATC	0.458000													31	28					0	0	0.008361	0	0
LRRTM2	26045	broad.mit.edu	37	5	138209494	138209494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:138209494C>T	ENST00000274711.6	-	2	1134	c.756G>A	c.(754-756)tgG>tgA	p.W252*	CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000302763.7_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	252						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTAAAGTGCCCCAGGTCCACT	0.423000													164	222					0	0	0.003610	0	0
OR11L1	391189	broad.mit.edu	37	1	248004495	248004495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:248004495C>T	ENST00000355784.2	-	1	759	c.704G>A	c.(703-705)aGa>aAa	p.R235K		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAAGGTCTTTCTCCGGCCAGA	0.507000													29	49					0	0	0.007291	0	0
SENP1	29843	broad.mit.edu	37	12	48458952	48458952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:48458952G>A	ENST00000004980.5	-	12	1649	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	SENP1_ENST00000448372.1_Missense_Mutation_p.R391C|SENP1_ENST00000549595.1_Missense_Mutation_p.R391C|SENP1_ENST00000551330.1_Missense_Mutation_p.R391C|SENP1_ENST00000549518.1_Missense_Mutation_p.R391C|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	391					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AGAGGTACACGAAGATGTAGT	0.358000													11	16					0	0	0.008291	0	0
AKAP3	10566	broad.mit.edu	37	12	4736158	4736158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:4736158G>A	ENST00000545990.2	-	5	2434	c.1910C>T	c.(1909-1911)cCc>cTc	p.P637L	AKAP3_ENST00000228850.1_Missense_Mutation_p.P637L	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	637					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TAGCCTGGGGGGAGAAGACGC	0.542000													15	20					0	0	0.002450	0	0
TEK	7010	broad.mit.edu	37	9	27212783	27212783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:27212783C>T	ENST00000380036.4	+	17	3207	c.2765C>T	c.(2764-2766)aCg>aTg	p.T922M	TEK_ENST00000519097.1_Missense_Mutation_p.T774M|TEK_ENST00000406359.4_Missense_Mutation_p.T879M	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	922	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GTGCTGGAGACGGACCCAGCA	0.592000													13	3					0	0	0.001855	0	0
HBG2	3048	broad.mit.edu	37	11	5275573	5275573	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:5275573C>T	ENST00000380259.2	-	7	1504	c.264G>A	c.(262-264)caG>caA	p.Q88Q	HBG2_ENST00000336906.4_Silent_p.Q88Q|HBG2_ENST00000380252.1_Silent_p.Q78Q					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCACTCAGCTGGGCAAAGG	0.517000													42	98					0	0	0.002852	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810729	140810729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140810729G>A	ENST00000252085.3	+	1	545	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTTTCGTGAAAGTGAATT	0.413000													40	99					0	0	0.007835	0	0
SCN5A	6331	broad.mit.edu	37	3	38620851	38620851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:38620851C>T	ENST00000413689.1	-	18	3557	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	SCN5A_ENST00000455624.2_Missense_Mutation_p.E1121K|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1121K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1122K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1122K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1121K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1122K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1122					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)	GCCTGGGGTTCCGCTTTCCAC	0.657000													5	6					0	0	0.000602	0	0
MCF2	4168	broad.mit.edu	37	X	138697137	138697137	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:138697137C>T	ENST00000520602.1	-	13	1731	c.1446G>A	c.(1444-1446)agG>agA	p.R482R	MCF2_ENST00000519895.1_Silent_p.R482R|MCF2_ENST00000338585.6_Silent_p.R422R|MCF2_ENST00000370578.4_Silent_p.R567R|MCF2_ENST00000370576.4_Silent_p.R422R|MCF2_ENST00000536274.1_Silent_p.R383R|MCF2_ENST00000414978.1_Silent_p.R482R|MCF2_ENST00000370573.4_Silent_p.R422R			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	422					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTGCCAGGTTCCTGAAACCAG	0.398000													108	134					0	0	0.003610	0	0
ERC2	26059	broad.mit.edu	37	3	56330286	56330286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:56330286G>A	ENST00000288221.6	-	3	1090	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	279						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)		TTCCTCAAAAGGAACAGCTCC	0.493000													100	168					0	0	0.003610	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158799	18158799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:18158799G>A	ENST00000396275.2	+	3	411	c.50G>A	c.(49-51)gGa>gAa	p.G17E		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	17						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCAATCAACGGACGTGAGGAG	0.537000													45	87					0	0	0.003610	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	by1000genomes	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:16734855C>T	ENST00000579062.1	-	0	460																		p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632000													5	19					0	0	0.001984	0	0
FAM135A	57579	broad.mit.edu	37	6	71238106	71238106	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:71238106T>G	ENST00000418814.2	+	16	4340	c.3726T>G	c.(3724-3726)gaT>gaG	p.D1242E	FAM135A_ENST00000457062.2_Missense_Mutation_p.D1029E|FAM135A_ENST00000361499.3_Missense_Mutation_p.D1046E|FAM135A_ENST00000370479.3_Missense_Mutation_p.D1029E|FAM135A_ENST00000505868.1_Missense_Mutation_p.D1242E|FAM135A_ENST00000505769.1_Missense_Mutation_p.D822E	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1242			D -> G (in dbSNP:rs2747701).							breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGAAGAGGATGGTTCTGAAG	0.403000													24	32					0	0	0.002780	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				51	7					0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126373578	126373578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:126373578C>T	ENST00000394329.3	+	9	11420	c.11407C>T	c.(11407-11409)Cat>Tat	p.H3803Y	FAT4_ENST00000335110.5_Missense_Mutation_p.H2101Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3803	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H3803Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCTGTGGATCATGACTCCTG	0.483000													23	32					0	0	0.002299	0	0
AC005609.1	0	broad.mit.edu	37	5	140242880	140242880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140242880C>T	ENST00000502505.1	-	1	344	c.96G>A	c.(94-96)atG>atA	p.M32I	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron																							TGTACCTGATCATCGCCATCT	0.652000													9	17					0	0	0.008291	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488820	20488820	+	RNA	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr15:20488820C>T	ENST00000555186.1	+	0	303					NR_038836.1																						GAACCCCCACCTGCTTGGCTC	0.423000													15	87					0	0	0.003163	0	0
MYOCD	93649	broad.mit.edu	37	17	12649307	12649307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:12649307C>T	ENST00000425538.1	+	9	1243	c.1043C>T	c.(1042-1044)cCt>cTt	p.P348L	MYOCD_ENST00000343344.4_Missense_Mutation_p.P348L|MYOCD_ENST00000395988.1_Missense_Mutation_p.P252L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	348					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCTTGTCTCCTGTCAAAAAC	0.428000													63	58					0	0	0.003610	0	0
IQCA1	79781	broad.mit.edu	37	2	237272552	237272552	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:237272552C>T	ENST00000409907.3	-	15	2014	c.1740G>A	c.(1738-1740)ggG>ggA	p.G580G	IQCA1_ENST00000309507.5_Silent_p.G577G|IQCA1_ENST00000431676.2_Silent_p.G539G			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	580							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCATTTTCTTCCCTACCCCAG	0.512000													29	44					0	0	0.006320	0	0
DNAH1	25981	broad.mit.edu	37	3	52428618	52428618	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:52428618C>T	ENST00000420323.2	+	67	11025	c.10764C>T	c.(10762-10764)tcC>tcT	p.S3588S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3653					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTTCTCTTCCGACTTCGTGA	0.577000													14	27					0	0	0.001855	0	0
LILRB4	11006	broad.mit.edu	37	19	55179188	55179188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:55179188G>A	ENST00000391736.1	+	13	1459	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	LILRB4_ENST00000430952.2_Missense_Mutation_p.E381K|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Missense_Mutation_p.E382K|LILRB4_ENST00000391733.3_Missense_Mutation_p.E383K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	382						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ACTGTCTGGGGAATTCCTGGA	0.592000													13	71					0	0	0.002450	0	0
MOCS1	4337	broad.mit.edu	37	6	39895171	39895171	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:39895171G>A	ENST00000373186.4	-	1	284	c.147C>T	c.(145-147)ttC>ttT	p.F49F	MOCS1_ENST00000340692.5_Silent_p.F49F|MOCS1_ENST00000373188.2_Silent_p.F49F|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000432280.2_Silent_p.F20F|MOCS1_ENST00000425303.2_Silent_p.F49F|MOCS1_ENST00000308559.7_Silent_p.F49F|MOCS1_ENST00000373175.4_Silent_p.F20F	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	49	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCTCCCGCAGGAACTGCCTCC	0.657000													21	11					0	0	0.008871	0	0
TMEM108	66000	broad.mit.edu	37	3	133099648	133099648	+	Missense_Mutation	SNP	G	G	A	rs79118437		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:133099648G>A	ENST00000515826.1	+	3	1216	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	TMEM108_ENST00000393130.3_Missense_Mutation_p.D365N|TMEM108_ENST00000321871.6_Missense_Mutation_p.D365N|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	365						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGCTGCCTTCGATACCAGTGT	0.592000													27	31					0	0	0.006320	0	0
CNTN4	152330	broad.mit.edu	37	3	2787269	2787269	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:2787269G>A	ENST00000397461.1	+	5	630	c.246G>A	c.(244-246)ggG>ggA	p.G82G	CNTN4_ENST00000418658.1_Silent_p.G82G|CNTN4_ENST00000427331.1_Silent_p.G82G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	82	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			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)		TTGTTGAAGGGAGCTTGTTGA	0.413000													32	51					0	0	0.004289	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098186	13098186	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:13098186C>T	ENST00000399002.2	+	8	1240	c.966C>T	c.(964-966)atC>atT	p.I322I	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	322					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGCCCCAGATCATAGCTCTAA	0.507000													64	115					0	0	0.003610	0	0
ITGB8	3696	broad.mit.edu	37	7	20418902	20418902	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:20418902G>C	ENST00000222573.3	+	4	1301	c.617G>C	c.(616-618)aGg>aCg	p.R206T	ITGB8_ENST00000537992.1_Missense_Mutation_p.R71T	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	206	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CACCCCGAAAGGATTCATAAT	0.338000													11	21					0	0	0.001368	0	0
PTPRT	11122	broad.mit.edu	37	20	40727111	40727111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:40727111C>T	ENST00000373198.3	-	28	4097	c.3862G>A	c.(3862-3864)Gat>Aat	p.D1288N	PTPRT_ENST00000373201.1_Missense_Mutation_p.D1256N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1276N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D1265N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D1269N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D1275N|PTPRT_ENST00000373187.1_Missense_Mutation_p.D1266N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1266	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.D1288N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGTTGTAATCGAACACCAGC	0.587000													35	18					0	0	0.004878	0	0
DEDD	9191	broad.mit.edu	37	1	161092180	161092180	+	Silent	SNP	G	G	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:161092180G>C	ENST00000392188.1	-	6	1038	c.804C>G	c.(802-804)tcC>tcG	p.S268S	DEDD_ENST00000545495.1_Silent_p.S238S|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Silent_p.S238S|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000458050.2_Silent_p.S238S|DEDD_ENST00000368005.1_Silent_p.S268S			O75618	DEDD_HUMAN	death effector domain containing	238					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAGGTCCCGGGACTTGAGGA	0.522000													51	55					0	0	0.003610	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45642860	45642860	+	RNA	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:45642860G>A	ENST00000427229.2	+	0	19																											CACCTCCTAGGAAATATGCAG	0.428000													7	1					0	0	0.001984	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887961	30887961	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:30887961C>T	ENST00000392772.2	-	10	887		c.e10-1		SEC14L4_ENST00000255858.7_Splice_Site|SEC14L4_ENST00000540456.1_Splice_Site|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Splice_Site			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)							integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CATAGTTGATCTGTGGGTGAA	0.617000													24	35					0	0	0.005443	0	0
TAL1	6886	broad.mit.edu	37	1	47685844	47685844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:47685844G>A	ENST00000371883.3	-	4	1126	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Missense_Mutation_p.P182S|TAL1_ENST00000294339.3_Missense_Mutation_p.P182S			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	182					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TTGGTGTGGGGACCTGGAGAT	0.552000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								11	13					0	0	0.000978	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939636	12939636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:12939636C>T	ENST00000235349.5	-	4	1236	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	389										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGGATTTCCACAGAAGCT	0.522000													130	173					0	0	0.003610	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218372	130218372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:130218372G>A	ENST00000276211.5	+	5	1084	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.E235K|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.E111K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	247	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCAATTCATTGAAAAACATGG	0.478000													12	15					0	0	0.001368	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033912	110033912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:110033912C>T	ENST00000369870.3	+	10	1742	c.1727C>T	c.(1726-1728)cCt>cTt	p.P576L	ATXN7L2_ENST00000459635.1_3'UTR	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	576										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAGTTATCCCCTGGCCCTACC	0.592000													236	288					0	0	0.003610	0	0
OR11H12	440153	broad.mit.edu	37	14	19378109	19378109	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:19378109G>A	ENST00000550708.1	+	1	588	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGTTCCTGATCCCCATTG	0.478000													37	121					0	0	0.003610	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10575720	10575720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:10575720C>T	ENST00000396560.2	+	12	1890	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S	ATF7IP2_ENST00000396559.1_Silent_p.H532H|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.P99S|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P555S|ATF7IP2_ENST00000324570.5_Silent_p.H532H	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	555				P -> L (in Ref. 5; BAD97212).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GCACCTGCCACCTCTCCCAGA	0.423000													19	33					0	0	0.001882	0	0
SLC4A10	57282	broad.mit.edu	37	2	162813628	162813628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:162813628G>A	ENST00000375514.5	+	20	2901	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	SLC4A10_ENST00000415876.2_Missense_Mutation_p.E861K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E891K|SLC4A10_ENST00000446997.1_Missense_Mutation_p.E891K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E861K	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	891					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTAAAACTGGAATCAGAATG	0.478000													16	16					0	0	0.004990	0	0
PSMD3	5709	broad.mit.edu	37	17	38142870	38142870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:38142870G>A	ENST00000264639.4	+	3	628	c.454G>A	c.(454-456)Gga>Aga	p.G152R	PSMD3_ENST00000541736.1_Missense_Mutation_p.G14R	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	152					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCCCCGCACGGGAAAAGCTGC	0.507000													69	99					0	0	0.003610	0	0
C4BPA	722	broad.mit.edu	37	1	207287489	207287489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:207287489G>A	ENST00000367070.3	+	3	381	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	63	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGCCCCGATGGATATTACGTT	0.478000													53	113					0	0	0.003610	0	0
OR11H12	440153	broad.mit.edu	37	14	19377829	19377829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:19377829G>A	ENST00000550708.1	+	1	308	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGTTCCTGGGAAATTTCTCC	0.413000													50	62					0	0	0.003610	0	0
PASD1	139135	broad.mit.edu	37	X	150832597	150832597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:150832597C>T	ENST00000370357.4	+	11	1093	c.848C>T	c.(847-849)tCc>tTc	p.S283F		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	283						nucleus	signal transducer activity	p.S283F(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCCTTATCCTTGCAAGAC	0.473000													26	60					0	0	0.006320	0	0
PTH	5741	broad.mit.edu	37	11	13514139	13514139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:13514139C>T	ENST00000282091.1	-	3	275	c.161G>A	c.(160-162)tGg>tAg	p.W54*	PTH_ENST00000529816.1_Nonsense_Mutation_p.W54*	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	54	Important for receptor binding.				bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		CTTACGCAGCCATTCTACTCT	0.493000													29	43					0	0	0.007291	0	0
PIK3R5	23533	broad.mit.edu	37	17	8791773	8791773	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:8791773T>A	ENST00000447110.1	-	10	1455	c.1331A>T	c.(1330-1332)gAg>gTg	p.E444V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.E444V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E444V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	444					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGAGCTGCCCTCCAGGCTCCG	0.677000													9	5					0	0	0.006214	0	0
SASS6	163786	broad.mit.edu	37	1	100587028	100587028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:100587028G>A	ENST00000287482.5	-	5	529	c.389C>T	c.(388-390)cCt>cTt	p.P130L	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	130					centriole replication	centriole		p.P130L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATGCTTAAAAGGATTTGTCTC	0.348000													21	23					0	0	0.008871	0	0
BMP5	653	broad.mit.edu	37	6	55639005	55639005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:55639005C>T	ENST00000370830.3	-	4	1567	c.869G>A	c.(868-870)gGa>gAa	p.G290E	BMP5_ENST00000446683.2_Missense_Mutation_p.G290E	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	290					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCTGTCTTCCCACAAGACC	0.423000													28	60					0	0	0.007291	0	0
SCAF4	57466	broad.mit.edu	37	21	33057751	33057751	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr21:33057751G>A	ENST00000286835.7	-	18	2638	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	SCAF4_ENST00000399804.1_Silent_p.S752S|SCAF4_ENST00000434667.3_Silent_p.S737S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	752						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAGGAGGAATGGATACTGGTG	0.453000													38	54					0	0	0.007835	0	0
FCRL4	83417	broad.mit.edu	37	1	157567718	157567718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:157567718G>A	ENST00000271532.1	-	1	152	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	6						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGCCAGCAAGGACGCCCACAG	0.547000													20	16					0	0	0.001882	0	0
AICDA	57379	broad.mit.edu	37	12	8757440	8757440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:8757440G>A	ENST00000229335.6	-	4	609	c.506C>T	c.(505-507)tCa>tTa	p.S169L	AICDA_ENST00000537228.1_Missense_Mutation_p.S159L	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	169					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GAGACGAACTGAATTTTCATG	0.378000													69	91					0	0	0.003610	0	0
NKIRAS1	28512	broad.mit.edu	37	3	23952324	23952324	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:23952324G>A	ENST00000443659.2	-	2	849	c.72C>T	c.(70-72)ctC>ctT	p.L24L	NKIRAS1_ENST00000415901.2_Silent_p.L24L|NKIRAS1_ENST00000437230.1_Silent_p.L24L|NKIRAS1_ENST00000425478.2_Silent_p.L24L|NKIRAS1_ENST00000416026.2_Silent_p.L24L|NKIRAS1_ENST00000421515.2_Silent_p.L24L|NKIRAS1_ENST00000412028.1_Silent_p.L24L|NKIRAS1_ENST00000388759.3_Silent_p.L24L			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	24					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TTCCATAAAGGAGCTGCTCCA	0.418000													11	12					0	0	0.008291	0	0
BSND	7809	broad.mit.edu	37	1	55474160	55474160	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:55474160G>A	ENST00000371265.4	+	4	1076	c.822G>A	c.(820-822)aaG>aaA	p.K274K		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	274						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CAAGGACAAAGGTGGAGGAGA	0.597000													16	24					0	0	0.004007	0	0
STAB1	23166	broad.mit.edu	37	3	52547918	52547918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:52547918G>A	ENST00000321725.6	+	32	3444	c.3368G>A	c.(3367-3369)gGg>gAg	p.G1123E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1123					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)		CCCCCCCGAGGGGATGTGCCC	0.622000													56	108					0	0	0.003610	0	0
TXN2	25828	broad.mit.edu	37	22	36863860	36863860	+	Silent	SNP	C	C	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:36863860C>A	ENST00000216185.2	-	4	958	c.492G>T	c.(490-492)ctG>ctT	p.L164L	TXN2_ENST00000403313.1_Silent_p.L164L|TXN2_ENST00000416967.1_Silent_p.L62L|TXN2_ENST00000487725.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	164	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						GTCAGCCAATCAGCTTCTTCA	0.587000													31	28					2.20262e-25	2.47015e-25	0.002836	1	0
AGMAT	79814	broad.mit.edu	37	1	15901252	15901252	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:15901252C>T	ENST00000375826.3	-	6	1127	c.985_splice	c.e6+1	p.G329_splice	DNAJC16_ENST00000375849.1_Intron|DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	329					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTACTCACCAGAAAGATCA	0.478000													20	35					0	0	0.001523	0	0
DEFA6	1671	broad.mit.edu	37	8	6782433	6782433	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:6782433G>A	ENST00000297436.2	-	2	250	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	70					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AATGGCAAGTGAAAGCCCTTG	0.493000													28	10					0	0	0.007291	0	0
TSIX	9383	broad.mit.edu	37	X	73044289	73044289	+	RNA	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:73044289G>A	ENST00000604411.1	+	0	32250				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						tTTGGCTGTGGCTAAATGAAA	0.343000													8	9					0	0	0.006214	0	0
FLNA	2316	broad.mit.edu	37	X	153582086	153582086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:153582086G>A	ENST00000422373.1	-	35	5920	c.5672C>T	c.(5671-5673)tCt>tTt	p.S1891F	FLNA_ENST00000360319.4_Missense_Mutation_p.S1891F|FLNA_ENST00000369856.3_Intron|FLNA_ENST00000344736.4_Missense_Mutation_p.S1859F|FLNA_ENST00000369850.3_Missense_Mutation_p.S1899F	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1899					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					AATGGCCAGAGACAGGCCCCC	0.632000											OREG0003596	type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	8					0	0	0.001984	0	0
EBF2	64641	broad.mit.edu	37	8	25708175	25708175	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:25708175G>T	ENST00000520164.1	-	15	2168	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Missense_Mutation_p.P396H	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	544					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCTGATGACAGGGGCAAAGGC	0.512000													44	11					8.01111e-26	9.00234e-26	0.002522	1	0
FAM134A	79137	broad.mit.edu	37	2	220044464	220044464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:220044464C>T	ENST00000430297.2	+	3	534	c.398C>T	c.(397-399)cCa>cTa	p.P133L		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	133						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATCATCCCCAGAGGAGCCA	0.572000													42	64					0	0	0.003610	0	0
FAM71F1	84691	broad.mit.edu	37	7	128356957	128356957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:128356957C>T	ENST00000315184.5	+	2	393	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.P35L	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	114										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCTGCCCCTCCCCAACATCCT	0.567000													18	19					0	0	0.006122	0	0
ZNF480	147657	broad.mit.edu	37	19	52825260	52825260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:52825260C>T	ENST00000595962.1	+	5	823	c.757C>T	c.(757-759)Cat>Tat	p.H253Y	ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.H176Y|ZNF480_ENST00000334564.7_Missense_Mutation_p.H210Y	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTGTAGAATTCATACTGGAGA	0.368000													15	44					0	0	0.002450	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757297	56757297	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:56757297G>A	ENST00000326855.2	+	1	951	c.909G>A	c.(907-909)gtG>gtA	p.V303V		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTTTAAAAGTGATAGGGAAAA	0.299000													8	12					0	0	0.003080	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946364	16946364	+	RNA	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:16946364G>A	ENST00000412962.1	-	0	1155																											TCTCGGCCAGGAGGAGGCCCT	0.657000													3	14					0	0	0.004672	0	0
ISL1	3670	broad.mit.edu	37	5	50687119	50687119	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:50687119G>A	ENST00000230658.7	+	5	1362	c.777G>A	c.(775-777)ggG>ggA	p.G259G	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Intron	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	259	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				ATATCCAGGGGATGACAGGAA	0.517000													15	23					0	0	0.004990	0	0
SEPT6	23157	broad.mit.edu	37	X	118771077	118771077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:118771077G>A	ENST00000394610.1	-	7	1133	c.869C>T	c.(868-870)aCc>aTc	p.T290I	SEPT6_ENST00000354416.3_Missense_Mutation_p.T290I|SEPT6_ENST00000354228.4_Missense_Mutation_p.T290I|SEPT6_ENST00000360156.7_Missense_Mutation_p.T290I|SEPT6_ENST00000489216.1_Missense_Mutation_p.T290I|SEPT6_ENST00000394616.4_Missense_Mutation_p.T232I|SEPT6_ENST00000394617.2_Missense_Mutation_p.T320I|SEPT6_ENST00000343984.5_Missense_Mutation_p.T290I	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	290					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CCGGGTGTGGGTCTGCTCCCG	0.577000			T	MLL	AML								36	51					0	0	0.006999	0	0
GAD1	2571	broad.mit.edu	37	2	171702538	171702538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:171702538G>A	ENST00000358196.3	+	10	1517	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	323					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AATTCCAGCTGATTTTGAGGC	0.353000													29	36					0	0	0.001786	0	0
TNXB	7148	broad.mit.edu	37	6	32065114	32065114	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:32065114A>C	ENST00000375244.3	-	3	717	c.516T>G	c.(514-516)gaT>gaG	p.D172E	TNXB_ENST00000479795.1_Missense_Mutation_p.D172E|TNXB_ENST00000375247.2_Missense_Mutation_p.D172E			P22105	TENX_HUMAN	tenascin XB	172					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGATCTCAGCATCTGTGGGGT	0.622000													229	179					0	0	0.003610	0	0
CFH	3075	broad.mit.edu	37	1	196706034	196706034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:196706034G>A	ENST00000367429.4	+	16	2734	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	832	Sushi 14.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTATCGGGATGGAGAAAAAGT	0.358000													22	13					0	0	0.002780	0	0
DHX58	79132	broad.mit.edu	37	17	40260089	40260089	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:40260089T>A	ENST00000251642.3	-	7	938	c.716A>T	c.(715-717)cAa>cTa	p.Q239L		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	239					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTCATGGATTTGGTCCATGAG	0.562000													39	54					0	0	0.002222	0	0
TBCE	6905	broad.mit.edu	37	1	235605135	235605135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:235605135G>A	ENST00000543662.1	+	15	1536	c.1430G>A	c.(1429-1431)gGt>gAt	p.G477D	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.G426D|TBCE_ENST00000406207.1_Missense_Mutation_p.G426D			Q15813	TBCE_HUMAN	tubulin folding cofactor E	426					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			ACAGAATATGGTGCACCTGAA	0.338000													30	17					0	0	0.008361	0	0
OR1E1	8387	broad.mit.edu	37	17	3301279	3301279	+	Silent	SNP	G	G	A	rs144699002		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:3301279G>A	ENST00000322608.2	-	1	425	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						CCACCAGGGCGAGACAGAGCA	0.572000											OREG0007321	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR1E1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	19	31					0	0	0.002299	0	0
PHKB	5257	broad.mit.edu	37	16	47699866	47699866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:47699866C>T	ENST00000299167.8	+	25	2375	c.2350C>T	c.(2350-2352)Cgt>Tgt	p.R784C	PHKB_ENST00000566044.1_Missense_Mutation_p.R777C|PHKB_ENST00000323584.5_Intron|PHKB_ENST00000455779.1_Intron			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	784	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGTTGTACGCCGTGCAGCAAG	0.458000													24	25					0	0	0.004656	0	0
SYTL4	94121	broad.mit.edu	37	X	99944858	99944858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:99944858C>T	ENST00000372981.1	-	9	1093	c.907G>A	c.(907-909)Gat>Aat	p.D303N	SYTL4_ENST00000372989.1_Missense_Mutation_p.D303N|SYTL4_ENST00000263033.5_Missense_Mutation_p.D303N|SYTL4_ENST00000455616.1_Missense_Mutation_p.D303N|SYTL4_ENST00000276141.6_Missense_Mutation_p.D303N|SYTL4_ENST00000454200.2_Missense_Mutation_p.D304N			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	303					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTACCATATCCACATTGAGG	0.403000													19	27					0	0	0.001523	0	0
GALNT16	57452	broad.mit.edu	37	14	69795228	69795228	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:69795228G>A	ENST00000337827.4	+	6	957	c.630G>A	c.(628-630)ctG>ctA	p.L210L	GALNT16_ENST00000448469.3_Silent_p.L210L|GALNT16_ENST00000553669.1_Silent_p.L210L	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		TCACCTTTCTGGATAGCCACT	0.642000													68	89					0	0	0.003610	0	0
SYT4	6860	broad.mit.edu	37	18	40850433	40850433	+	Missense_Mutation	SNP	C	C	A	rs149020215	byFrequency	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:40850433C>A	ENST00000255224.3	-	4	1519	c.1151G>T	c.(1150-1152)cGa>cTa	p.R384L	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Missense_Mutation_p.R366L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	384	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.R384Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TACCTCATTTCGGGACCCCCT	0.458000													41	54					1.30998e-17	1.46317e-17	0.005524	1	0
SEMG1	6406	broad.mit.edu	37	20	43836294	43836294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:43836294C>T	ENST00000372781.3	+	2	413	c.356C>T	c.(355-357)tCa>tTa	p.S119L	SEMG1_ENST00000244069.6_Missense_Mutation_p.S119L	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATGATAAATCAAAAGGTCAT	0.418000													26	23					0	0	0.003954	0	0
LARP4	113251	broad.mit.edu	37	12	50867196	50867196	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:50867196A>G	ENST00000398473.2	+	14	1657		c.e14-1		LARP4_ENST00000347328.5_Splice_Site|LARP4_ENST00000518444.1_Splice_Site|LARP4_ENST00000293618.8_Splice_Site|LARP4_ENST00000429001.3_Splice_Site	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4								nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TTTTACTTTAAGGATAATGAA	0.373000													19	5					0	0	0.007413	0	0
NR3C1	2908	broad.mit.edu	37	5	142689668	142689668	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:142689668G>A	ENST00000343796.2	-	4	2455	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	NR3C1_ENST00000424646.2_Silent_p.L462L|NR3C1_ENST00000394464.2_Silent_p.L488L|NR3C1_ENST00000394466.2_Silent_p.L489L|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000504572.1_Silent_p.L489L|NR3C1_ENST00000416954.2_Silent_p.L91L|NR3C1_ENST00000503201.1_Silent_p.L488L|NR3C1_ENST00000415690.2_Silent_p.L488L|NR3C1_ENST00000231509.3_Silent_p.L489L	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	488	Hinge.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TTACCTTCCAGGTTCATTCCA	0.343000													18	17					0	0	0.008871	0	0
ASH1L	55870	broad.mit.edu	37	1	155450917	155450917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:155450917G>A	ENST00000368346.3	-	3	2383	c.1744C>T	c.(1744-1746)Cca>Tca	p.P582S	ASH1L_ENST00000392403.3_Missense_Mutation_p.P582S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	582					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAAAGTAATGGATTAGGAGCC	0.403000													21	56					0	0	0.008871	0	0
LCMT1	51451	broad.mit.edu	37	16	25172473	25172473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:25172473C>T	ENST00000399069.3	+	6	672	c.517C>T	c.(517-519)Cga>Tga	p.R173*	LCMT1_ENST00000380966.4_Intron|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	173							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AGCAGATCTCCGAGACCTGTC	0.348000													5	7					0	0	0.000602	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969478	5969478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:5969478G>A	ENST00000284898.6	-	18	1755	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P510S|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.P323S|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P519S	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	519					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CTGCCGAGGGGAAGGTCCCGA	0.612000													39	42					0	0	0.005524	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526002	176526002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:176526002G>A	ENST00000367662.3	+	2	1708	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E182K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	182					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E182K(2)|p.E182*(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACCCTGAACGAACCCAAACC	0.587000													108	60					0	0	0.003610	0	0
GRM1	2911	broad.mit.edu	37	6	146480484	146480484	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:146480484G>A	ENST00000392299.2	+	3	1171	c.700_splice	c.e3-1	p.G234_splice	GRM1_ENST00000507907.1_Splice_Site_p.G234_splice|GRM1_ENST00000361719.2_Splice_Site_p.G234_splice|GRM1_ENST00000492807.2_Splice_Site_p.G234_splice|GRM1_ENST00000355289.4_Splice_Site_p.G234_splice|GRM1_ENST00000282753.1_Splice_Site_p.G234_splice			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	234					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTCTGGACAGGGAATTATGGG	0.478000													39	17					0	0	0.002522	0	0
CLK2	1196	broad.mit.edu	37	1	155239385	155239385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:155239385G>A	ENST00000368361.4	-	3	608	c.293C>T	c.(292-294)tCc>tTc	p.S98F	CLK2_ENST00000536801.1_Missense_Mutation_p.S98F|CLK2_ENST00000361168.5_Missense_Mutation_p.S98F|CLK2_ENST00000355560.4_Missense_Mutation_p.S97F			P49760	CLK2_HUMAN	CDC-like kinase 2	98						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATATTCATAGGAATGCCGATA	0.587000								Other conserved DNA damage response genes					123	91					0	0	0.003610	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794861	18794861	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:18794861C>T	ENST00000377428.2	+	1	492	c.402C>T	c.(400-402)ttC>ttT	p.F134F	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		CCGGAAAGTTCAAAGTGAGTG	0.463000													27	40					0	0	0.007291	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291413	141291413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:141291413C>T	ENST00000247452.3	-	3	708	c.361G>A	c.(361-363)Ggg>Agg	p.G121R		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	121						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTATCCTCCCCTTTCTGGCTG	0.547000										HNSCC(46;0.14)			25	55					0	0	0.007291	0	0
KCNK9	51305	broad.mit.edu	37	8	140630676	140630676	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:140630676G>T	ENST00000520439.1	-	2	1013	c.950C>A	c.(949-951)tCc>tAc	p.S317Y	KCNK9_ENST00000303015.1_Missense_Mutation_p.S317Y			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	317						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGCGCTGAAGGAGTTCTGCGG	0.592000													23	83					1.50039e-11	1.66576e-11	0.001882	1	0
PRLR	5618	broad.mit.edu	37	5	35065416	35065416	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:35065416C>T	ENST00000382002.5	-	10	2070	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.K447K|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Silent_p.K447K|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	548					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCCCGGACACCTTGGCATACT	0.493000													35	26					0	0	0.003755	0	0
EPCAM	4072	broad.mit.edu	37	2	47606944	47606944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:47606944G>A	ENST00000263735.4	+	7	1052	c.694G>A	c.(694-696)Gac>Aac	p.D232N	EPCAM_ENST00000405271.1_Missense_Mutation_p.D260N	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	232					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TAAGAAAATGGACCTGACAGT	0.343000													23	36					0	0	0.003954	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572100	76572100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:76572100C>T	ENST00000307431.8	+	20	3465	c.3080C>T	c.(3079-3081)gCt>gTt	p.A1027V	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.A1031V|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A979V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A955V	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1028					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGCTCCCACGCTGCTTCATTT	0.363000													21	28					0	0	0.008871	0	0
SMCHD1	23347	broad.mit.edu	37	18	2688675	2688675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:2688675C>T	ENST00000320876.6	+	7	1141	c.803C>T	c.(802-804)tCt>tTt	p.S268F	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S268F	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	268					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTTGTGCTTTCTAAAGAAGAT	0.279000													6	4					0	0	0.004482	0	0
FBXW10	10517	broad.mit.edu	37	17	18653121	18653121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:18653121G>A	ENST00000308799.4	+	3	976	c.757G>A	c.(757-759)Gat>Aat	p.D253N	FBXW10_ENST00000301938.4_Missense_Mutation_p.D253N|FBXW10_ENST00000395667.1_Missense_Mutation_p.D253N|FBXW10_ENST00000395665.4_Missense_Mutation_p.D253N			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	253										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GCCAGGGTACGATCCCTGCAA	0.483000													57	124					0	0	0.003610	0	0
UBE3B	89910	broad.mit.edu	37	12	109926454	109926454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:109926454G>A	ENST00000342494.3	+	7	1120	c.525G>A	c.(523-525)tgG>tgA	p.W175*	UBE3B_ENST00000340074.5_Nonsense_Mutation_p.W175*|UBE3B_ENST00000280774.5_Nonsense_Mutation_p.W175*|UBE3B_ENST00000540230.1_Nonsense_Mutation_p.W175*|UBE3B_ENST00000434735.2_Nonsense_Mutation_p.W175*|UBE3B_ENST00000537063.1_Nonsense_Mutation_p.W175*|UBE3B_ENST00000536398.1_Nonsense_Mutation_p.W175*	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	175					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTTCAACGTGGAAAATTCTTC	0.458000													88	133					0	0	0.003610	0	0
DENND5A	23258	broad.mit.edu	37	11	9225655	9225655	+	Silent	SNP	G	G	A	rs146129513		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:9225655G>A	ENST00000328194.3	-	4	821	c.501C>T	c.(499-501)ccC>ccT	p.P167P	DENND5A_ENST00000530044.1_Silent_p.P167P	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	167										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATCAGCAGGGGGAGCATGTA	0.512000													22	43					0	0	0.001523	0	0
VSIG1	340547	broad.mit.edu	37	X	107320491	107320491	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:107320491G>A	ENST00000415430.3	+	8	1313	c.1152G>A	c.(1150-1152)ctG>ctA	p.L384L	VSIG1_ENST00000217957.5_Silent_p.L348L	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	348						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						ACATCGAGCTGGAGCTGGAGC	0.567000													26	30					0	0	0.003330	0	0
SNX13	23161	broad.mit.edu	37	7	17833866	17833866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:17833866G>A	ENST00000428135.3	-	26	2875	c.2677C>T	c.(2677-2679)Cgt>Tgt	p.R893C	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000409389.1_3'UTR	NM_015132.4	NP_055947.1	Q9Y5W8	SNX13_HUMAN	sorting nexin 13	904					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCAAAAACACGAAGAATACCT	0.363000													11	18					0	0	0.008291	0	0
ITGAM	3684	broad.mit.edu	37	16	31336029	31336029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:31336029G>A	ENST00000544665.3	+	18	2289	c.2218G>A	c.(2218-2220)Gga>Aga	p.G740R	ITGAM_ENST00000287497.8_Missense_Mutation_p.G739R	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	739					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTCTCTGGTGGGAACGCCATT	0.587000													10	21					0	0	0.001368	0	0
ADAM32	203102	broad.mit.edu	37	8	39027493	39027493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:39027493C>T	ENST00000379907.4	+	10	1019	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	ADAM32_ENST00000519315.1_Missense_Mutation_p.R298C|ADAM32_ENST00000437682.2_Missense_Mutation_p.R305C	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	298	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R297S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GTGTATTACTCGTTATTCTGC	0.254000													18	38					0	0	0.003330	0	0
KCNH8	131096	broad.mit.edu	37	3	19559536	19559536	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:19559536C>T	ENST00000328405.2	+	15	2855	c.2589C>T	c.(2587-2589)acC>acT	p.T863T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	863						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGAGGAGACCAAGCAGCAGA	0.408000													41	32					0	0	0.006999	0	0
GPR115	221393	broad.mit.edu	37	6	47682091	47682091	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:47682091C>T	ENST00000283303.2	+	6	1368	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	GPR115_ENST00000371220.1_Silent_p.I427I|GPR115_ENST00000327753.3_Silent_p.I370I	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	370	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGTTGGATATCAGGAACGAAG	0.458000													38	28					0	0	0.004289	0	0
DPRX	503834	broad.mit.edu	37	19	54140083	54140083	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:54140083C>T	ENST00000376650.1	+	3	468	c.417C>T	c.(415-417)gtC>gtT	p.V139V		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ACCTCAAGGTCCCTGCAAATG	0.527000													60	187					0	0	0.003610	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577418	67577418	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:67577418G>A	ENST00000310421.4	-	1	2034	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	592					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAGTAATAGGGAAAGCTTCTG	0.393000													32	52					0	0	0.002096	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795544	142795544	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:142795544T>A	ENST00000370498.1	-	2	887	c.134A>T	c.(133-135)aAa>aTa	p.K45I		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	45										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTATTGTTTTTGTCTTTTG	0.413000													26	43					0	0	0.004656	0	0
ROBO4	54538	broad.mit.edu	37	11	124757060	124757060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:124757060G>A	ENST00000306534.3	-	15	2733	c.2248C>T	c.(2248-2250)Ccc>Tcc	p.P750S	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P605S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	750	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ATGGGGATGGGGGCTGCTGGC	0.637000													41	42					0	0	0.006999	0	0
PDE9A	5152	broad.mit.edu	37	21	44151975	44151975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr21:44151975G>A	ENST00000291539.6	+	5	418	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.E79K|PDE9A_ENST00000328862.6_Missense_Mutation_p.E94K|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.E53K|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000349112.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	120					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GCCCCGGAGGGAAGGAGCATT	0.622000													19	39					0	0	0.008871	0	0
C6	729	broad.mit.edu	37	5	41158798	41158798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:41158798G>A	ENST00000263413.3	-	13	2210	c.1946C>T	c.(1945-1947)cCt>cTt	p.P649L	C6_ENST00000337836.5_Missense_Mutation_p.P649L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	649	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATTTTCTGGAGGAACTGGCTG	0.398000													22	25					0	0	0.003954	0	0
HTT	3064	broad.mit.edu	37	4	3210615	3210615	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr4:3210615C>G	ENST00000355072.5	+	46	6413	c.6268C>G	c.(6268-6270)Ctg>Gtg	p.L2090V		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2090					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCACGTGTCACTGGAAACAGT	0.582000													7	9					0	0	0.003080	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616293	77616293	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr8:77616293G>A	ENST00000521891.2	+	0	418				ZFHX4_ENST00000518282.1_De_novo_Start_InFrame|ZFHX4_ENST00000050961.6_De_novo_Start_InFrame|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_De_novo_Start_InFrame	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4							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)			TGACAGGCTGGATGAAATGAG	0.433000										HNSCC(33;0.089)			10	7					0	0	0.006214	0	0
SOGA1	140710	broad.mit.edu	37	20	35467644	35467644	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr20:35467644G>A	ENST00000237536.4	-	2	1229	c.888C>T	c.(886-888)atC>atT	p.I296I	SOGA1_ENST00000279034.5_Silent_p.I58I|SOGA1_ENST00000357779.3_Silent_p.I58I	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	58										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCAGACCACGGATAAGCTCGC	0.657000													42	71					0	0	0.003610	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570536	47570536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:47570536G>A	ENST00000253048.5	-	15	3026	c.2989C>T	c.(2989-2991)Ccc>Tcc	p.P997S	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	997							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCGGGCACGGGGGGCACTGCG	0.736000													35	138					0	0	0.003755	0	0
LRP6	4040	broad.mit.edu	37	12	12311842	12311842	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:12311842G>A	ENST00000261349.4	-	12	2788	c.2712C>T	c.(2710-2712)tgC>tgT	p.C904C	LRP6_ENST00000543091.1_Silent_p.C904C	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	904	EGF-like 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCACAGCCAAGCAGAGGTGGG	0.507000													171	307					0	0	0.003610	0	0
QRICH1	54870	broad.mit.edu	37	3	49083867	49083867	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:49083867A>T	ENST00000395443.2	-	5	2134	c.1662T>A	c.(1660-1662)tgT>tgA	p.C554*	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Nonsense_Mutation_p.C554*|QRICH1_ENST00000424300.1_Nonsense_Mutation_p.C554*	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	554										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCTTTTGAATACACAGGAAAA	0.388000													33	43					0	0	0.003271	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:99932099C>T	ENST00000524871.1	+	10	1426	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S379F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S379F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S305F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S379F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	379	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAAAAATTCCTTTCGTGGA	0.408000													22	27					0	0	0.001882	0	0
IGHA1	3493	broad.mit.edu	37	14	106173562	106173562	+	RNA	SNP	T	T	C			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:106173562T>C	ENST00000390547.2	-	0	1004																											CATGGGTGGGTTTACCCGCCA	0.627000													12	77					0	0	0.001368	0	0
PHKA2	5256	broad.mit.edu	37	X	18911701	18911701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:18911701C>T	ENST00000379942.4	-	33	4275	c.3610G>A	c.(3610-3612)Gct>Act	p.A1204T	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1204					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCACTCGGAGCGCTGTCATAA	0.522000													153	107					0	0	0.003610	0	0
AURKB	9212	broad.mit.edu	37	17	8108286	8108286	+	Missense_Mutation	SNP	G	G	A	rs144169786		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:8108286G>A	ENST00000316199.6	-	9	1018	c.941C>T	c.(940-942)tCg>tTg	p.S314L	AURKB_ENST00000578549.1_Missense_Mutation_p.S281L|AURKB_ENST00000585124.1_Missense_Mutation_p.S313L|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000534871.1_Missense_Mutation_p.S272L			Q96GD4	AURKB_HUMAN	aurora kinase B	313	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						CAGCCGTTCCGAGGGGTTATG	0.632000													15	26					0	0	0.003163	0	0
OR52L1	338751	broad.mit.edu	37	11	6007845	6007845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:6007845G>A	ENST00000332249.4	-	1	370	c.316C>T	c.(316-318)Cat>Tat	p.H106Y		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGTGGGCATGAACCAGGAGC	0.547000													14	14					0	0	0.004007	0	0
TBX18	9096	broad.mit.edu	37	6	85446847	85446847	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:85446847C>T	ENST00000369663.5	-	8	1717	c.1380G>A	c.(1378-1380)gtG>gtA	p.V460V	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	460					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)		TGCTGCTGCTCACGCCCACAT	0.577000													36	40					0	0	0.003755	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540572	169540572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:169540572G>A	ENST00000340806.6	+	1	863	c.863G>A	c.(862-864)gGa>gAa	p.G288E		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	288										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CTCTACCTGGGAAACACCGGC	0.627000													19	7					0	0	0.003330	0	0
DHX38	9785	broad.mit.edu	37	16	72142723	72142723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr16:72142723C>T	ENST00000268482.3	+	24	3789	c.3280C>T	c.(3280-3282)Cgc>Tgc	p.R1094C	DHX38_ENST00000536867.1_Missense_Mutation_p.R406C	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1094					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CGTGAACATCCGCACAGGGAT	0.542000													9	17					0	0	0.004482	0	0
COL1A2	1278	broad.mit.edu	37	7	94030901	94030901	+	Missense_Mutation	SNP	G	G	A	rs74315131		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr7:94030901G>A	ENST00000297268.6	+	6	719	c.248G>A	c.(247-249)gGa>gAa	p.G83E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	83			Missing (in EDS7B).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAGTATGATGGAAAAGGAGTT	0.279000										HNSCC(75;0.22)			37	61					0	0	0.003214	0	0
SAPCD2	89958	broad.mit.edu	37	9	139960001	139960001	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr9:139960001G>A	ENST00000409687.3	-	3	931	c.804C>T	c.(802-804)cgC>cgT	p.R268R		NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN	suppressor APC domain containing 2	268						cytoplasm|nucleus											GGCCCAGGCGGCGCTGGCGCT	0.677000													23	6					0	0	0.002780	0	0
DCHS1	8642	broad.mit.edu	37	11	6648377	6648377	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:6648377G>A	ENST00000299441.3	-	14	6304	c.5893C>T	c.(5893-5895)Ctg>Ttg	p.L1965L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1965	Cadherin 19.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGTAGGCGCAGAGGACTGGTG	0.617000													43	74					0	0	0.003610	0	0
EP300	2033	broad.mit.edu	37	22	41551054	41551054	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr22:41551054C>T	ENST00000263253.7	+	17	4417	c.3198C>T	c.(3196-3198)taC>taT	p.Y1066Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1066					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGGCACTTTACCGTCAGGATC	0.383000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				81	117					0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47390533	47390533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:47390533C>T	ENST00000285039.7	-	28	4120	c.3821G>A	c.(3820-3822)cGg>cAg	p.R1274Q	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.R415Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1274					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGCGAGTCGCCGCTGGTCGGC	0.612000													24	37					0	0	0.003954	0	0
NPHS1	4868	broad.mit.edu	37	19	36333452	36333452	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:36333452C>T	ENST00000378910.5	-	18	2334	c.2334_splice	c.e18-1	p.G779_splice	NPHS1_ENST00000353632.6_Splice_Site_p.G779_splice	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	779	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.G779*(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCATCTTCTCCCTGGAGGCCC	0.572000													24	97					0	0	0.002299	0	0
ZBED2	79413	broad.mit.edu	37	3	111312403	111312403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr3:111312403G>A	ENST00000317012.4	-	2	1654	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	216							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TAAACAAAATGGAAGGGATGT	0.453000													14	22					0	0	0.004007	0	0
RERE	473	broad.mit.edu	37	1	8416175	8416175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:8416175G>A	ENST00000337907.3	-	22	5105	c.4471C>T	c.(4471-4473)Cgc>Tgc	p.R1491C	RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.R1491C|RERE_ENST00000377464.1_Missense_Mutation_p.R1223C|RERE_ENST00000476556.1_Missense_Mutation_p.R937C	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1491	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTGGGTGGCGAAGCATCTCG	0.632000													84	105					0	0	0.003610	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		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)		agcagcaacaacagcagcagc	0.567000													5	40					0	0	0.001168	0	0
HBBP1	3044	broad.mit.edu	37	11	5264433	5264433	+	RNA	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:5264433C>T	ENST00000454892.1	-	0	63					NR_001589.1																						AACAGCTTTTCCGAAGGAGAT	0.493000													15	15					0	0	0.004990	0	0
DEDD	9191	broad.mit.edu	37	1	161092179	161092179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:161092179G>A	ENST00000392188.1	-	6	1039	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	DEDD_ENST00000545495.1_Missense_Mutation_p.R239W|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Missense_Mutation_p.R239W|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000458050.2_Missense_Mutation_p.R239W|DEDD_ENST00000368005.1_Missense_Mutation_p.R269W			O75618	DEDD_HUMAN	death effector domain containing	239					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCCAGGTCCCGGGACTTGAGG	0.522000													51	55					0	0	0.003610	0	0
F8	2157	broad.mit.edu	37	X	154215554	154215554	+	Missense_Mutation	SNP	T	T	A	rs5987076		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:154215554T>A	ENST00000360256.4	-	5	828	c.628A>T	c.(628-630)Acc>Tcc	p.T210S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	210	F5/8 type A 1.|Plastocyanin-like 2.				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)	TTGTGCAAGGTCTGTGTCTTT	0.343000													19	27					0	0	0.008871	0	0
OR8B8	26493	broad.mit.edu	37	11	124310277	124310277	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:124310277G>A	ENST00000328064.2	-	1	777	c.705C>T	c.(703-705)tcC>tcT	p.S235S		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGAAGGCTTTGGACCTGCCCT	0.468000													46	53					0	0	0.003610	0	0
FOXR2	139628	broad.mit.edu	37	X	55650562	55650562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:55650562C>T	ENST00000339140.3	+	1	730	c.418C>T	c.(418-420)Cct>Tct	p.P140S		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	140					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						TGAGCAGTCTCCTTTACAGAA	0.517000													21	30					0	0	0.002299	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093384	30093384	+	RNA	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:30093384C>T	ENST00000567636.1	+	0	1759					NR_003558.1																						GGATCTGCCCCCCTGGGCTTT	0.498000													14	26					0	0	0.001855	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282858	69282858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chrX:69282858G>A	ENST00000338352.2	+	1	518	c.484G>A	c.(484-486)Gtg>Atg	p.V162M		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	162	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGACCAGCTGGTGTTCAGCGT	0.632000													9	7					0	0	0.004482	0	0
HSD17B14	51171	broad.mit.edu	37	19	49335008	49335008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:49335008G>A	ENST00000263278.4	-	5	552	c.286C>T	c.(286-288)Cca>Tca	p.P96S	HSD17B14_ENST00000599157.1_Intron	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	96					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GGCCTCTGTGGGGGTGGGTCT	0.622000													117	48					0	0	0.003610	0	0
PRDM1	639	broad.mit.edu	37	6	106552701	106552701	+	Splice_Site	SNP	A	A	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:106552701A>T	ENST00000369096.4	+	5	900	c.664_splice	c.e5-1	p.T222_splice	PRDM1_ENST00000369089.3_Splice_Site_p.T88_splice|PRDM1_ENST00000369091.2_Splice_Site_p.T186_splice	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	222					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T186fs*9(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TTATTTCAGCACAAACACAGA	0.428000			"""D, N, Mis, F, S"""		DLBCL								76	117					0	0	0.003610	0	0
CDH19	28513	broad.mit.edu	37	18	64172126	64172126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr18:64172126C>T	ENST00000262150.2	-	12	2534	c.2242G>A	c.(2242-2244)Gat>Aat	p.D748N		NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	748					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTAAGGTAATCATAGCTTTCA	0.413000													20	25					0	0	0.007413	0	0
AP1M1	8907	broad.mit.edu	37	19	16318952	16318952	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:16318952C>T	ENST00000291439.3	+	4	839	c.390C>T	c.(388-390)atC>atT	p.I130I	AP1M1_ENST00000444449.2_Silent_p.I130I|AP1M1_ENST00000541844.1_Silent_p.I58I|AP1M1_ENST00000590756.1_Silent_p.I58I|AP1M1_ENST00000429941.2_Silent_p.I130I	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	130					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						ACAGCAAGATCCTGCAGGAGT	0.592000													18	43					0	0	0.007413	0	0
HTR7	3363	broad.mit.edu	37	10	92509351	92509351	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr10:92509351C>T	ENST00000371721.3	-	2	782	c.539_splice	c.e2-1	p.R180_splice	HTR7_ENST00000371719.2_Splice_Site_p.R180_splice|HTR7_ENST00000336152.3_Splice_Site_p.R180_splice|HTR7_ENST00000277874.6_Splice_Site_p.R180_splice			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	180					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TCCCAAGGTACCTAGTGGAGA	0.532000													28	8					0	0	0.005443	0	0
LRP1B	53353	broad.mit.edu	37	2	141773412	141773412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr2:141773412C>T	ENST00000389484.3	-	13	3014	c.2043G>A	c.(2041-2043)atG>atA	p.M681I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	681					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)		TGAATCCATCCATCCAGGCCT	0.418000										TSP Lung(27;0.18)			19	37					0	0	0.002299	0	0
CD101	9398	broad.mit.edu	37	1	117560848	117560848	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:117560848C>T	ENST00000256652.4	+	6	1741	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	CD101_ENST00000369470.1_Silent_p.S561S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	561	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGACCTGTCCTGTGTCGTGA	0.478000													14	17					0	0	0.004007	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072568	34072568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr17:34072568G>A	ENST00000254466.6	-	6	1975	c.1948C>T	c.(1948-1950)Cct>Tct	p.P650S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P634S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	650					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGTCATAAGGACCCCCAGGC	0.632000													84	97					0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237798220	237798220	+	Silent	SNP	G	G	A			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:237798220G>A	ENST00000366574.2	+	44	7037	c.6720G>A	c.(6718-6720)ctG>ctA	p.L2240L	RYR2_ENST00000542537.1_Silent_p.L2224L|RYR2_ENST00000360064.6_Silent_p.L2238L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2240	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACACCACTGGATGTGGCTG	0.423000													7	16					0	0	0.003080	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751468	140751468	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr5:140751468T>G	ENST00000576222.1	+	1	1638	c.1507T>G	c.(1507-1509)Tcc>Gcc	p.S503A	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTCGTCCTACGTGTC	0.652000													37	37					0	0	0.004289	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073478	74073478	+	Silent	SNP	C	C	T			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:74073478C>T	ENST00000370367.3	+	3	602	c.549C>T	c.(547-549)ctC>ctT	p.L183L		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		AGCAGTCTCTCCAGGCTGCCA	0.667000													23	20					0	0	0.003330	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				9	43	---	---	---	---					
OR2T29	343563	broad.mit.edu	37	1	248722428	248722429	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr1:248722428_248722429insCG	ENST00000328570.3	-	1	368_369	c.364_365insCG	c.(364-366)ggcfs	p.G122fs	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCATAGGCCATGGTGGCTAGA	0.540													3	4	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1																						GGACTAGGAGAAAAAAAGGTA	0.517													9	38	---	---	---	---					
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)del	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58								p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748													6	10	---	---	---	---					
TYR	7299	broad.mit.edu	37	11	88911404	88911412	+	In_Frame_Del	DEL	TTCATGGGA	TTCATGGGA	-	rs61753252		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr11:88911404_88911412delTTCATGGGA	ENST00000263321.5	+	1	785_793	c.283_291delTTCATGGGA	c.(283-291)del	p.FMG95del	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	95					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTCTGGCAACTTCATGGGATTCAACTGTG	0.507													12	32	---	---	---	---					
IGHV4-28	28400	broad.mit.edu	37	14	106780957	106780957	+	RNA	DEL	G	G	-	rs34740110		TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr14:106780957delG	ENST00000390612.2	-	0	60																											TTCTTGCACAGGAGGTCCAGG	0.502													9	26	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20243404	20243405	+	RNA	DEL	AC	AC	-			TCGA-EE-A2GS-06A-12D-A197-08	TCGA-EE-A2GS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0385fffc-6192-4326-890f-7d3c4f112482	e31a8373-dfc6-4910-8045-be33cfe544c2	g.chr19:20243404_20243405delAC	ENST00000590606.1	-	0	188				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							TCCCTGGAAAACACACACACAC	0.411													7	63	---	---	---	---					
