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
BID	637	broad.mit.edu	37	22	18220990	18220990	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:18220990C>T	ENST00000317361.7	-	5	833	c.507G>A	c.(505-507)cgG>cgA	p.R169R	BID_ENST00000399767.1_Silent_p.R27R|BID_ENST00000342111.5_3'UTR|BID_ENST00000551952.1_Silent_p.R123R|BID_ENST00000399765.1_Silent_p.R27R|BID_ENST00000399774.3_Silent_p.R123R|BID_ENST00000473439.1_5'UTR	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	123					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GGTCCCTGTTCCGGTCCTGCA	0.552000													13	19					0	0	0.001855	0	0
NUP188	23511	broad.mit.edu	37	9	131761556	131761556	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:131761556C>T	ENST00000372577.2	+	33	3642	c.3621C>T	c.(3619-3621)ttC>ttT	p.F1207F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1207					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCAAGGTGTTCTCAGCATTCA	0.562000											OREG0003925	type=REGULATORY REGION|Gene=AK025292|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	43					0	0	0.000958	0	0
PSD2	84249	broad.mit.edu	37	5	139189174	139189174	+	Missense_Mutation	SNP	G	G	A	rs147071263		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:139189174G>A	ENST00000274710.3	+	2	354	c.149G>A	c.(148-150)cGa>cAa	p.R50Q		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	50					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCACGAGCGAAGGGGCACC	0.657000													5	33					0	0	0.000602	0	0
UBR4	23352	broad.mit.edu	37	1	19451079	19451079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:19451079G>A	ENST00000375267.2	-	65	9547	c.9544C>T	c.(9544-9546)Cca>Tca	p.P3182S	UBR4_ENST00000375217.2_Missense_Mutation_p.P3175S|UBR4_ENST00000375226.2_Missense_Mutation_p.P3158S|UBR4_ENST00000375254.3_Missense_Mutation_p.P3182S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3182					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACAGGAGGTGGGATTCGAGAA	0.458000													12	25					0	0	0.001368	0	0
PDE4B	5142	broad.mit.edu	37	1	66458717	66458717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:66458717C>T	ENST00000423207.2	+	1	613	c.128C>T	c.(127-129)cCt>cTt	p.P43L	PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000329654.4_Intron	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CCTACATCTCCTAAAATTTCT	0.443000													11	47					0	0	0.000978	0	0
MYOF	26509	broad.mit.edu	37	10	95070382	95070382	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:95070382A>T	ENST00000371501.4	-	52	6030	c.5908T>A	c.(5908-5910)Ttg>Atg	p.L1970M	MYOF_ENST00000358334.5_Missense_Mutation_p.L1957M|MYOF_ENST00000359263.4_Missense_Mutation_p.L1970M|MYOF_ENST00000371502.4_Missense_Mutation_p.L1960M			Q9NZM1	MYOF_HUMAN	myoferlin	1970					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGGATTTCCAATGTCATCTCC	0.498000													22	50					0	0	0.003954	0	0
PREX2	80243	broad.mit.edu	37	8	68939480	68939480	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:68939480G>A	ENST00000288368.4	+	5	742	c.465G>A	c.(463-465)cgG>cgA	p.R155R	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	155	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTGGAGGACGGAAGAACACAG	0.358000													9	45					0	0	0.004482	0	0
TFDP1	7027	broad.mit.edu	37	13	114287486	114287486	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:114287486C>T	ENST00000375370.5	+	6	572	c.360C>T	c.(358-360)tcC>tcT	p.S120S	TFDP1_ENST00000544902.1_Silent_p.S25S|TFDP1_ENST00000538138.1_Silent_p.S25S|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	120					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GGCATTTCTCCATGAAGGTCT	0.522000										TSP Lung(29;0.18)			12	21					0	0	0.001368	0	0
COLEC12	81035	broad.mit.edu	37	18	346955	346955	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr18:346955G>A	ENST00000400256.3	-	5	874	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	223					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GACCGCTGCAGATTCGTGATG	0.483000													31	90					0	0	0.002836	0	0
HOXA4	3201	broad.mit.edu	37	7	27169137	27169137	+	Silent	SNP	G	G	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:27169137G>T	ENST00000360046.5	-	2	735	c.670C>A	c.(670-672)Cgg>Agg	p.R224R	HOXA3_ENST00000467897.2_Intron|HOXA4_ENST00000428284.2_Silent_p.R224R|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						ACCTGCTGCCGGGTGTAGGCG	0.592000													5	81					0.000602214	0.00217444	0.000602	1	0
PCM1	5108	broad.mit.edu	37	8	17863888	17863888	+	Silent	SNP	A	A	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:17863888A>G	ENST00000325083.8	+	30	5383	c.4944A>G	c.(4942-4944)caA>caG	p.Q1648Q	PCM1_ENST00000327578.8_Silent_p.Q347Q|PCM1_ENST00000524226.1_Silent_p.Q1594Q|PCM1_ENST00000519253.1_Silent_p.Q1640Q	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1648	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTCATAAACAACTTGGAAGTA	0.388000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								10	45					0	0	0.000978	0	0
CAGE1	285782	broad.mit.edu	37	6	7373595	7373595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:7373595G>A	ENST00000502583.1	-	5	2021	c.1457C>T	c.(1456-1458)tCt>tTt	p.S486F	CAGE1_ENST00000296742.7_Missense_Mutation_p.S350F|CAGE1_ENST00000512086.1_Missense_Mutation_p.S486F|CAGE1_ENST00000338150.4_Missense_Mutation_p.S486F|CAGE1_ENST00000379918.4_Missense_Mutation_p.S486F	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	486										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTCCTGTAAAGACAAGAACTC	0.393000													6	30					0	0	0.001984	0	0
SBK2	646643	broad.mit.edu	37	19	56042631	56042631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:56042631G>A	ENST00000413299.1	-	3	372	c.335C>T	c.(334-336)tCg>tTg	p.S112L	SBK2_ENST00000344158.3_Missense_Mutation_p.S112L	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	112	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGCGCCCAGCGAGAGCCCCAC	0.667000													4	17					0	0	0.000248	0	0
GARNL3	84253	broad.mit.edu	37	9	130111261	130111261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:130111261C>T	ENST00000373387.4	+	17	1842	c.1490C>T	c.(1489-1491)cCc>cTc	p.P497L	GARNL3_ENST00000314904.5_Missense_Mutation_p.P497L|GARNL3_ENST00000435213.2_Missense_Mutation_p.P475L	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	497	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGTGCAGATCCCTGGGGCCAG	0.502000													12	41					0	0	0.004007	0	0
MAP3K4	4216	broad.mit.edu	37	6	161469968	161469968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:161469968C>T	ENST00000392142.4	+	3	812	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	MAP3K4_ENST00000348824.7_Missense_Mutation_p.R222C|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R222C|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R222C	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	222					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R222C(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCCAGCAGATCGTTTAAAGTT	0.448000													4	14					0	0	0.000248	0	0
CPN2	1370	broad.mit.edu	37	3	194063009	194063009	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:194063009G>A	ENST00000323830.3	-	2	512	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CPN2_ENST00000429275.1_Silent_p.F141F	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	141					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCAGGTGCTGGAAAAGACCCT	0.602000													12	31					0	0	0.000978	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751121	19751121	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:19751121G>A	ENST00000400113.3	-	4	1106	c.1002C>T	c.(1000-1002)acC>acT	p.T334T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	334					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCTTGATGGTGGCGATGG	0.527000													18	37					0	0	0.004990	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912768	29912768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:29912768G>A	ENST00000308748.5	+	1	728	c.476G>A	c.(475-477)tGg>tAg	p.W159*	ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	159	Gly-rich.				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CGCTACTCCTGGGCTGGGATG	0.692000													11	23					0	0	0.000673	0	0
TSSC2	650368	broad.mit.edu	37	11	3429946	3429946	+	RNA	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:3429946G>A	ENST00000529482.1	+	0	2075																											TGATCCTGCGGGCAAGCTAAA	0.527000													10	30					0	0	0.000443	0	0
DOCK3	1795	broad.mit.edu	37	3	51274943	51274943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:51274943G>A	ENST00000266037.9	+	21	2047	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	675						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AACCTGCTCCGAGACATCAAG	0.473000													9	15					0	0	0.000443	0	0
QSOX1	5768	broad.mit.edu	37	1	180151450	180151450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:180151450C>T	ENST00000367602.3	+	6	822	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	QSOX1_ENST00000367600.5_Missense_Mutation_p.P250S			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	250					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTCCCGAGTCCCCGTGTGAGT	0.597000													33	103					0	0	0.005524	0	0
GEM	2669	broad.mit.edu	37	8	95262690	95262690	+	Missense_Mutation	SNP	C	C	T	rs141202489	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:95262690C>T	ENST00000297596.2	-	5	1003	c.739G>A	c.(739-741)Gag>Aag	p.E247K	GEM_ENST00000396194.2_Missense_Mutation_p.E247K	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	247					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)			TCATTCTTCTCCTTGCTGTCC	0.562000													8	31					0	0	0.000443	0	0
PLCH1	23007	broad.mit.edu	37	3	155203145	155203145	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:155203145C>T	ENST00000460012.1	-	22	3241	c.2884_splice	c.e22+1	p.A962_splice	PLCH1_ENST00000334686.6_Splice_Site_p.A962_splice|PLCH1_ENST00000447496.2_Splice_Site_p.V1000_splice|PLCH1_ENST00000494598.1_Splice_Site_p.D980_splice|PLCH1_ENST00000340059.7_Splice_Site_p.A1000_splice|PLCH1_ENST00000414191.1_Splice_Site_p.A962_splice			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1000					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCATCTTACCTAGAGAGTTT	0.423000													7	30					0	0	0.001984	0	0
VPS13D	55187	broad.mit.edu	37	1	12343341	12343341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:12343341C>T	ENST00000358136.3	+	21	5312	c.5182C>T	c.(5182-5184)Cac>Tac	p.H1728Y	VPS13D_ENST00000356315.4_Missense_Mutation_p.H1728Y	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1728					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)		TCTCCCTTCCCACATGGAAGA	0.478000													18	51					0	0	0.000958	0	0
ZNF831	128611	broad.mit.edu	37	20	57766725	57766725	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:57766725G>A	ENST00000371030.2	+	1	651	c.651G>A	c.(649-651)ggG>ggA	p.G217G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	217						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)					TGGAGGAAGGGGACAAGGCCG	0.687000													21	55					0	0	0.001882	0	0
SLC1A7	6512	broad.mit.edu	37	1	53600048	53600048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:53600048C>T	ENST00000371494.4	-	2	316	c.189G>A	c.(187-189)atG>atA	p.M63I	SLC1A7_ENST00000371491.4_Missense_Mutation_p.M63I	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	63						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GCAGGATCATCATCTTCAGCA	0.532000													11	22					0	0	0.003163	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599059	136599059	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:136599059C>T	ENST00000531224.1	-	4	1212	c.960G>A	c.(958-960)tcG>tcA	p.S320S	BCLAF1_ENST00000353331.4_Silent_p.S318S|BCLAF1_ENST00000530767.1_Silent_p.S320S|BCLAF1_ENST00000527536.1_Silent_p.S320S|BCLAF1_ENST00000392348.2_Silent_p.S318S|BCLAF1_ENST00000527759.1_Silent_p.S318S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	320					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CAGGATAAAACGAGGAACGGC	0.398000													11	68					0	0	0.004007	0	0
ADCY2	108	broad.mit.edu	37	5	7709339	7709339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:7709339C>T	ENST00000338316.4	+	10	1506	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.P293S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	473					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACGACGGAGCCCCCAGCATCT	0.592000													10	29					0	0	0.001368	0	0
MC3R	4159	broad.mit.edu	37	20	54824811	54824811	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:54824811G>A	ENST00000243911.2	+	1	1024	c.912G>A	c.(910-912)ctG>ctA	p.L304L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	341					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCCGGAGCCTGGAATTGCGCA	0.527000													93	117					0	0	0.003610	0	0
GLB1	2720	broad.mit.edu	37	3	33038624	33038624	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:33038624G>A	ENST00000307363.5	-	16	2091	c.1947C>T	c.(1945-1947)acC>acT	p.T649T	GLB1_ENST00000399402.3_Silent_p.T619T|GLB1_ENST00000445488.2_Silent_p.T697T|GLB1_ENST00000307377.8_Silent_p.T518T	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	649					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GATGATCGTAGGTCACAGATG	0.507000													25	73					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179583311	179583311	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:179583311C>T	ENST00000589042.1	-	85	24746	c.24522G>A	c.(24520-24522)gtG>gtA	p.V8174V	TTN_ENST00000591111.1_Silent_p.V7857V|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V6930V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7857	Ig-like 64.						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)			CCAATCTTTTCACAAAGGTGG	0.418000													16	39					0	0	0.004990	0	0
OR8K3	219473	broad.mit.edu	37	11	56085949	56085949	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:56085949A>G	ENST00000312711.1	+	1	167	c.167A>G	c.(166-168)cAa>cGa	p.Q56R		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCAGGTTGCAAACCCCTATG	0.418000													38	121					0	0	0.001287	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445936	29445936	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:29445936C>T	ENST00000544604.2	+	8	1942	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S	ZNRF3_ENST00000402174.1_Silent_p.S489S|ZNRF3_ENST00000406323.3_Silent_p.S489S|ZNRF3_ENST00000332811.4_Silent_p.S489S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	589						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TCCGCAGCTCCCTCAGCAGCG	0.672000													27	58					0	0	0.002096	0	0
ZNF431	170959	broad.mit.edu	37	19	21365782	21365782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:21365782C>T	ENST00000311048.7	+	5	820	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TAAAAGAATTCATATTAGAGA	0.333000													7	32					0	0	0.003080	0	0
ABHD17A	81926	broad.mit.edu	37	19	1881302	1881302	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:1881302G>A	ENST00000292577.7	-	2	697	c.264C>T	c.(262-264)gtC>gtT	p.V88V	ABHD17A_ENST00000590661.1_Silent_p.V88V|ABHD17A_ENST00000250974.9_Silent_p.V88V	NM_001130111.1	NP_001123583.1			abhydrolase domain containing 17A																		TGGTGGGGAAGACCTCGATGG	0.692000													10	33					0	0	0.002780	0	0
EDAR	10913	broad.mit.edu	37	2	109513597	109513597	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:109513597C>T	ENST00000409271.1	-	12	1652	c.1209G>A	c.(1207-1209)gtG>gtA	p.V403V	EDAR_ENST00000258443.2_Silent_p.V371V|EDAR_ENST00000376651.1_Silent_p.V403V			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	371	Death.		T -> M (in EDA).		apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCCACGTTTTCACAACAGCCT	0.567000													26	50					0	0	0.001786	0	0
NOLC1	9221	broad.mit.edu	37	10	103921611	103921611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:103921611C>T	ENST00000405356.1	+	12	2135	c.1900C>T	c.(1900-1902)Cca>Tca	p.P634S	NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Missense_Mutation_p.P343S|NOLC1_ENST00000605788.1_Missense_Mutation_p.P624S|NOLC1_ENST00000488254.2_Missense_Mutation_p.P625S			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	624					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGCATCATCCCCATTCCGAAG	0.473000													12	36					0	0	0.002450	0	0
ZNF711	7552	broad.mit.edu	37	X	84520196	84520196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:84520196G>A	ENST00000360700.4	+	6	1737	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	ZNF711_ENST00000395402.1_Missense_Mutation_p.R262Q|ZNF711_ENST00000542798.1_Missense_Mutation_p.R80Q|ZNF711_ENST00000276123.3_Missense_Mutation_p.R284Q|ZNF711_ENST00000373165.3_Missense_Mutation_p.R284Q			Q9Y462	ZN711_HUMAN	zinc finger protein 711	284					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GACCAGAGCCGAATGCAGCGG	0.398000													21	8					0	0	0.001882	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552888	43552888	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:43552888G>A	ENST00000430334.3	-	4	634	c.501C>T	c.(499-501)ttC>ttT	p.F167F	PLEKHM1_ENST00000421073.2_Silent_p.F78F	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	167	RUN.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGCCCTGCAGGAAGCTAAGGA	0.607000													7	47					0	0	0.001984	0	0
MGAM	8972	broad.mit.edu	37	7	141765418	141765418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:141765418C>T	ENST00000475668.2	+	39	4703	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1550	Glucoamylase.				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)	TTTGGCATATCCTATGTGAGT	0.498000													41	40					0	0	0.003610	0	0
DNMBP	23268	broad.mit.edu	37	10	101654768	101654768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:101654768G>A	ENST00000342239.3	-	11	3254	c.3163C>T	c.(3163-3165)Cga>Tga	p.R1055*	DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000543621.1_Nonsense_Mutation_p.R277*|DNMBP_ENST00000324109.4_Nonsense_Mutation_p.R1031*			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1031	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTTGCATTCGGAAGTTTTTT	0.363000													5	16					0	0	0.000602	0	0
LRP1B	53353	broad.mit.edu	37	2	141079558	141079558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:141079558C>T	ENST00000389484.3	-	82	13585	c.12614G>A	c.(12613-12615)gGc>gAc	p.G4205D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4205					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)		ATTGCAGGTGCCATTAATCAA	0.378000										TSP Lung(27;0.18)			23	78					0	0	0.003954	0	0
FBN3	84467	broad.mit.edu	37	19	8191396	8191396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:8191396G>A	ENST00000600128.1	-	20	2924	c.2510C>T	c.(2509-2511)aCc>aTc	p.T837I	FBN3_ENST00000270509.2_Missense_Mutation_p.T837I|FBN3_ENST00000601739.1_Missense_Mutation_p.T837I			Q75N90	FBN3_HUMAN	fibrillin 3	837	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGCCCCGAGGGTGGCGCAGCA	0.662000													8	17					0	0	0.004482	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346714	140346714	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:140346714G>A	ENST00000289269.5	+	1	895	c.363G>A	c.(361-363)ttG>ttA	p.L121L	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		121	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCAGCTTGGAAGTGCTGG	0.627000													17	33					0	0	0.001216	0	0
PDHA2	5161	broad.mit.edu	37	4	96762199	96762199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:96762199C>T	ENST00000295266.4	+	1	961	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	300					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R300C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGTCAGTTATCGTACACGAGA	0.433000													10	39					0	0	0.000978	0	0
ACPP	55	broad.mit.edu	37	3	132071612	132071612	+	Missense_Mutation	SNP	G	G	A	rs140885758		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:132071612G>A	ENST00000336375.5	+	9	1003	c.913G>A	c.(913-915)Gga>Aga	p.G305R	ACPP_ENST00000351273.7_Missense_Mutation_p.G305R|ACPP_ENST00000475741.1_Missense_Mutation_p.G272R	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	305						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGTTTACAACGGACTCCTTCC	0.433000													4	59					0	0	0.000602	0	0
RPS20	6224	broad.mit.edu	37	8	56985769	56985769	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:56985769G>A	ENST00000519807.1	-	4	365	c.240C>T	c.(238-240)ttC>ttT	p.F80F	RPS20_ENST00000009589.3_Silent_p.F80F|RPS20_ENST00000521262.1_Silent_p.F80F|RPS20_ENST00000519606.1_3'UTR|RPS20_ENST00000524349.1_Silent_p.F25F|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000520627.1_Silent_p.F25F|RPS20_ENST00000523936.1_3'UTR	NM_001146227.1	NP_001139699.1	P60866	RS20_HUMAN	ribosomal protein S20	80					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			TTCTCATCTGGAAACGATCCC	0.413000													25	98					0	0	0.001271	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636489	43636489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:43636489G>A	ENST00000431635.2	-	5	698	c.550C>T	c.(550-552)Cct>Tct	p.P184S	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.P129S	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	129					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCTTCGTAGGGACTTTGAGC	0.473000													41	98					0	0	0.002222	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887371	12887371	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:12887371C>T	ENST00000535591.1	-	3	681	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	162										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGTCTAGGTTCACCATTTTCA	0.463000													97	234					0	0	0.003610	0	0
GRK7	131890	broad.mit.edu	37	3	141497384	141497384	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:141497384C>T	ENST00000264952.2	+	1	395	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	86	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGGCAACCTTCCTAGAGGACG	0.662000													6	37					0	0	0.001984	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871350	8871350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:8871350C>T	ENST00000256707.3	-	30	4997	c.4816G>A	c.(4816-4818)Gac>Aac	p.D1606N	KIDINS220_ENST00000427284.1_Missense_Mutation_p.D1587N|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D1587N|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D1507N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1606					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCTGGGAGTCATCCGCCACT	0.488000													9	34					0	0	0.004482	0	0
PCSK5	5125	broad.mit.edu	37	9	78804604	78804604	+	Silent	SNP	C	C	T	rs138803714		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:78804604C>T	ENST00000545128.1	+	20	3106	c.2568C>T	c.(2566-2568)tgC>tgT	p.C856C	PCSK5_ENST00000376752.4_Silent_p.C856C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	856	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTACAAGCTGCCCTAGTGGGT	0.403000													14	50					0	0	0.002450	0	0
PNKP	11284	broad.mit.edu	37	19	50367223	50367223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:50367223G>A	ENST00000322344.3	-	7	851	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	PNKP_ENST00000596014.1_Nonsense_Mutation_p.Q248*|PNKP_ENST00000600573.1_Nonsense_Mutation_p.Q248*|PNKP_ENST00000600910.1_Nonsense_Mutation_p.Q248*	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	248					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		AGCCATACCTGGAAGGGGACC	0.632000								Other BER factors					9	18					0	0	0.000673	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149376714	149376714	+	RNA	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:149376714C>T	ENST00000415338.1	-	0	1061																											CTGTGACATCCCCACTCCTGG	0.502000													22	32					0	0	0.002299	0	0
FAM209B	388799	broad.mit.edu	37	20	55108414	55108414	+	Missense_Mutation	SNP	C	C	T	rs140276541		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:55108414C>T	ENST00000371325.1	+	1	113	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	6						integral to membrane											ACGCTGAAATCGTCCCTGGTC	0.572000													55	110					0	0	0.003610	0	0
RPTN	126638	broad.mit.edu	37	1	152128685	152128685	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:152128685T>C	ENST00000316073.3	-	3	954	c.890A>G	c.(889-891)cAg>cGg	p.Q297R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	297	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGTCCGTCTGACCGTAGTG	0.512000													113	423					0	0	0.003610	0	0
FAT1	2195	broad.mit.edu	37	4	187534446	187534446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:187534446G>A	ENST00000441802.2	-	13	9489	c.9280C>T	c.(9280-9282)Cat>Tat	p.H3094Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3094	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACGAGAAGATGATAAACAGCT	0.468000										HNSCC(5;0.00058)			16	36					0	0	0.000958	0	0
PCDH15	65217	broad.mit.edu	37	10	55721651	55721651	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:55721651C>T	ENST00000373965.2	-	23	3285	c.2889_splice	c.e23-1	p.G964_splice	PCDH15_ENST00000414778.1_Splice_Site_p.G962_splice|PCDH15_ENST00000395445.1_Splice_Site_p.G964_splice|PCDH15_ENST00000395432.2_Splice_Site_p.G920_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Splice_Site_p.G957_splice|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Splice_Site_p.G957_splice|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Splice_Site_p.G568_splice|PCDH15_ENST00000395438.1_Splice_Site_p.G957_splice|PCDH15_ENST00000437009.1_Splice_Site_p.G886_splice|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Splice_Site_p.G935_splice|PCDH15_ENST00000320301.6_Splice_Site_p.G957_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	957	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCAGGTAATCCCtaaaataa	0.308000										HNSCC(58;0.16)			17	19					0	0	0.004990	0	0
CCDC37	348807	broad.mit.edu	37	3	126142215	126142215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:126142215G>A	ENST00000393425.1	+	12	1232	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	CCDC37_ENST00000505024.1_Missense_Mutation_p.G378E|CCDC37_ENST00000352312.1_Missense_Mutation_p.G377E			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	377										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GACAGCGATGGGGAGGTGAAT	0.657000													7	22					0	0	0.000443	0	0
CPXM2	119587	broad.mit.edu	37	10	125516860	125516860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:125516860C>T	ENST00000241305.3	-	12	1940	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	596					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TAGCTGAAATCGTTCAGACCT	0.493000													14	28					0	0	0.001855	0	0
OBSCN	84033	broad.mit.edu	37	1	228451886	228451886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:228451886C>T	ENST00000570156.2	+	18	5281	c.5207C>T	c.(5206-5208)gCc>gTc	p.A1736V	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1552V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A208V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1552V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	724	Fibronectin type-III 2.				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)				GGGACCAGTGCCACGCTGAGC	0.642000													11	68					0	0	0.000978	0	0
AKT2	208	broad.mit.edu	37	19	40747872	40747872	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:40747872G>A	ENST00000392038.2	-	6	844	c.546C>T	c.(544-546)atC>atT	p.I182I	AKT2_ENST00000579047.1_Silent_p.I120I|AKT2_ENST00000311278.6_Silent_p.I182I|AKT2_ENST00000424901.1_Silent_p.I182I	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	182	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CCTTCCGCAGGATCTTCATGG	0.592000			A		"""ovarian, pancreatic """								62	161					0	0	0.003610	0	0
KLRC4-KLRK1	100528032	broad.mit.edu	37	12	10560383	10560383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:10560383G>A	ENST00000539300.1	-	4	319	c.320C>T	c.(319-321)tCa>tTa	p.S107L	KLRC4_ENST00000309384.1_Missense_Mutation_p.H116Y																							TGGCCACAATGACGTGCTAAA	0.318000													63	91					0	0	0.003610	0	0
RNF17	56163	broad.mit.edu	37	13	25433165	25433165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:25433165G>A	ENST00000255324.5	+	26	3689	c.3637G>A	c.(3637-3639)Gaa>Aaa	p.E1213K	RNF17_ENST00000339524.3_Missense_Mutation_p.E265K|RNF17_ENST00000381921.1_Missense_Mutation_p.E1213K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1213					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.E1213*(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATGACAAATGAAATTCAAAG	0.308000													7	21					0	0	0.001984	0	0
TPO	7173	broad.mit.edu	37	2	1480905	1480905	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:1480905C>T	ENST00000345913.4	+	8	958	c.867C>T	c.(865-867)ttC>ttT	p.F289F	TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.F289F|TPO_ENST00000337415.3_Silent_p.F289F|TPO_ENST00000329066.4_Silent_p.F289F|TPO_ENST00000382201.3_Silent_p.F289F|TPO_ENST00000349624.3_Intron|TPO_ENST00000382198.1_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	289					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GTCTGCCCTTCTACCGCTCTT	0.697000													12	26					0	0	0.001368	0	0
ESYT1	23344	broad.mit.edu	37	12	56530608	56530608	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:56530608C>T	ENST00000394048.5	+	16	1977	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	ESYT1_ENST00000541590.1_Silent_p.I581I|ESYT1_ENST00000267113.4_Silent_p.I581I	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	571						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAGAACTCATCCTGGACCAGT	0.552000													34	38					0	0	0.002096	0	0
DNAH5	1767	broad.mit.edu	37	5	13829655	13829655	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:13829655C>T	ENST00000265104.4	-	38	6512	c.6408G>A	c.(6406-6408)acG>acA	p.T2136T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2136	AAA 1 (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)					GTTTGTAGAGCGTGAAAAACT	0.453000									Kartagener syndrome				24	48					0	0	0.001061	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													4	35					0	0	0.000248	0	0
ITGB4	3691	broad.mit.edu	37	17	73752699	73752699	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:73752699G>A	ENST00000200181.3	+	36	5084		c.e36+1		ITGB4_ENST00000450894.3_Splice_Site|ITGB4_ENST00000339591.3_Splice_Site|ITGB4_ENST00000449880.2_Splice_Site|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Splice_Site	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4						cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCTGCCAGGTGAGTTGCCT	0.662000													28	39					0	0	0.005443	0	0
LAMA3	3909	broad.mit.edu	37	18	21427530	21427530	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr18:21427530T>A	ENST00000313654.9	+	32	4275	c.4034T>A	c.(4033-4035)tTc>tAc	p.F1345Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.F1345Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1345	Domain III B.|Laminin EGF-like 10.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACACTCATTCAGCTTCCAC	0.657000													14	24					0	0	0.002450	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251645	24251645	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:24251645G>A	ENST00000538205.1	+	5	658	c.111G>A	c.(109-111)acG>acA	p.T37T	ADAMDEC1_ENST00000522298.1_Silent_p.T37T|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.T116T	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	116					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAATTACCACGAAACCTGAGA	0.458000													9	21					0	0	0.000443	0	0
LGR5	8549	broad.mit.edu	37	12	71971717	71971717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:71971717G>A	ENST00000266674.5	+	14	1532	c.1221G>A	c.(1219-1221)tgG>tgA	p.W407*	LGR5_ENST00000540815.2_Nonsense_Mutation_p.W383*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.W335*			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	407						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ATTTGGCTTGGAACAAAATTG	0.308000													131	494					0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55533670	55533670	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:55533670C>T	ENST00000220676.1	+	2	292	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	48	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.F48F(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCCCAATTCGGCGGGGTCA	0.552000													25	35					0	0	0.004656	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582483	136582483	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:136582483G>T	ENST00000531224.1	-	12	2929	c.2677C>A	c.(2677-2679)Caa>Aaa	p.Q893K	BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q842K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q720K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q844K|BCLAF1_ENST00000031135.9_Missense_Mutation_p.Q111K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q842K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q891K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	893					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATCCCCTTGGTATTTGTCA	0.413000													21	151					3.62473e-10	1.31764e-09	0.001882	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8216517	8216517	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:8216517C>T	ENST00000361926.3	+	3	989	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ARHGEF15_ENST00000421050.1_Silent_p.F293F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	293					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCACCATTTTCGGGGACCCCC	0.592000													7	38					0	0	0.004482	0	0
AMBRA1	55626	broad.mit.edu	37	11	46565585	46565585	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:46565585C>T	ENST00000458649.2	-	6	976	c.558G>A	c.(556-558)gtG>gtA	p.V186V	AMBRA1_ENST00000298834.3_Silent_p.V186V|AMBRA1_ENST00000528950.1_Silent_p.V186V|AMBRA1_ENST00000314845.3_Silent_p.V186V|AMBRA1_ENST00000533727.1_Silent_p.V186V|AMBRA1_ENST00000534300.1_Silent_p.V186V|AMBRA1_ENST00000426438.1_Silent_p.V186V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	186					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GATCAAATCTCACCAGACTAA	0.373000													22	48					0	0	0.003330	0	0
ADAM29	11086	broad.mit.edu	37	4	175898197	175898197	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:175898197G>A	ENST00000359240.3	+	5	2191	c.1521G>A	c.(1519-1521)agG>agA	p.R507R	ADAM29_ENST00000514159.1_Silent_p.R507R|ADAM29_ENST00000404450.4_Silent_p.R507R|ADAM29_ENST00000445694.1_Silent_p.R507R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	507	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTGTAGGAGGATTTTTGGTG	0.448000													26	67					0	0	0.004656	0	0
NPAP1	23742	broad.mit.edu	37	15	24921149	24921149	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:24921149C>T	ENST00000329468.2	+	1	609	c.135C>T	c.(133-135)cgC>cgT	p.R45R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCACCCCGCGCCCTTTCCGCG	0.766000													12	27					0	0	0.004007	0	0
TRPC6	7225	broad.mit.edu	37	11	101374914	101374914	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:101374914C>T	ENST00000344327.3	-	2	1210	c.786G>A	c.(784-786)caG>caA	p.Q262Q	TRPC6_ENST00000532133.1_Silent_p.Q262Q|TRPC6_ENST00000360497.4_Silent_p.Q262Q|TRPC6_ENST00000348423.4_Silent_p.Q262Q	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	262					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGTCATGCTTCTGTTTCTGGT	0.468000													35	96					0	0	0.004878	0	0
ART3	419	broad.mit.edu	37	4	77003601	77003601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:77003601C>T	ENST00000355810.4	+	3	813	c.694C>T	c.(694-696)Caa>Taa	p.Q232*	ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Nonsense_Mutation_p.Q232*|ART3_ENST00000349321.3_Nonsense_Mutation_p.Q232*	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	232					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGAGGTTTTTCAAGTGTCACA	0.393000													12	35					0	0	0.000978	0	0
BAZ2B	29994	broad.mit.edu	37	2	160284896	160284896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:160284896C>T	ENST00000392783.2	-	12	2785	c.2290G>A	c.(2290-2292)Ggg>Agg	p.G764R	BAZ2B_ENST00000355831.2_Missense_Mutation_p.G764R|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G762R|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G664R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	764	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAAGGCGCCCTCCAAAGTTT	0.343000													19	111					0	0	0.001882	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521271	125521271	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:125521271T>C	ENST00000431078.1	+	15	2618	c.2254T>C	c.(2254-2256)Tcc>Ccc	p.S752P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	752	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGCTTTCTTTCCTTCAAAGA	0.413000													4	23					0	0	0.001168	0	0
STARD8	9754	broad.mit.edu	37	X	67938118	67938118	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:67938118C>T	ENST00000252336.6	+	5	1494	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	STARD8_ENST00000374599.3_Silent_p.A454A|STARD8_ENST00000374597.3_Silent_p.A374A	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	374					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGTCCCCAGCCTGGGCCCAGG	0.627000													7	8					0	0	0.003080	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210448	100210448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:100210448G>A	ENST00000393950.2	+	1	316	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	MOSPD3_ENST00000424091.2_Missense_Mutation_p.V12M|MOSPD3_ENST00000379527.2_Missense_Mutation_p.V12M|MOSPD3_ENST00000223054.4_Missense_Mutation_p.V12M	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	12						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGGAGCTGGTGGGTccggg	0.726000													11	22					0	0	0.000673	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607052	131607052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:131607052C>T	ENST00000253754.3	+	5	627	c.563C>T	c.(562-564)tCc>tTc	p.S188F	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.S188F|PDLIM4_ENST00000484620.1_3'UTR	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	188							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCTGGGCTCCGAGGTGTAC	0.667000													15	20					0	0	0.004007	0	0
RGP1	9827	broad.mit.edu	37	9	35749252	35749252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:35749252G>A	ENST00000456972.2	+	1	50	c.50G>A	c.(49-51)aGg>aAg	p.R17K	GBA2_ENST00000545786.1_Intron			Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	0										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCCGGAAGGGACTCCGCG	0.766000													5	5					0	0	0.001984	0	0
ADAM7	8756	broad.mit.edu	37	8	24350590	24350590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:24350590G>A	ENST00000175238.6	+	16	1773	c.1690G>A	c.(1690-1692)Ggg>Agg	p.G564R	RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G336R|ADAM7_ENST00000380789.1_Missense_Mutation_p.G564R|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	564	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTGCACTGGAGGGGAGCTTTC	0.403000													14	53					0	0	0.004990	0	0
PCDH8	5100	broad.mit.edu	37	13	53420448	53420448	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:53420448G>A	ENST00000377942.3	-	1	2327	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	PCDH8_ENST00000338862.4_Silent_p.F708F	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	708	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTGTTACCACGAAGCTGACAG	0.726000													9	16					0	0	0.004482	0	0
PNCK	139728	broad.mit.edu	37	X	152938025	152938025	+	Missense_Mutation	SNP	G	G	A	rs139296709	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:152938025G>A	ENST00000393831.2	-	3	630	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C	PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Missense_Mutation_p.R83C|PNCK_ENST00000340888.3_Missense_Mutation_p.R66C|PNCK_ENST00000447676.2_Missense_Mutation_p.R149C|PNCK_ENST00000370142.1_Missense_Mutation_p.R66C|PNCK_ENST00000370150.1_Missense_Mutation_p.R66C	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	66	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCACCTACGGAGCACTGCG	0.682000													22	17					0	0	0.004656	0	0
PRPF8	10594	broad.mit.edu	37	17	1587789	1587789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:1587789G>A	ENST00000572621.1	-	1	342	c.77C>T	c.(76-78)tCg>tTg	p.S26L	PRPF8_ENST00000304992.6_Missense_Mutation_p.S26L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	26						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.S26L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTTCTCCTCCGACATGTAGTC	0.701000													22	48					0	0	0.001061	0	0
SP100	6672	broad.mit.edu	37	2	231307783	231307783	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:231307783A>T	ENST00000264052.5	+	3	594	c.239A>T	c.(238-240)gAt>gTt	p.D80V	SP100_ENST00000409112.1_Missense_Mutation_p.D80V|SP100_ENST00000409897.1_Missense_Mutation_p.D45V|SP100_ENST00000409824.1_Missense_Mutation_p.D55V|SP100_ENST00000341950.4_Missense_Mutation_p.D80V|SP100_ENST00000427101.2_Missense_Mutation_p.D55V|SP100_ENST00000409341.1_Missense_Mutation_p.D80V|SP100_ENST00000340126.4_Missense_Mutation_p.D80V	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	80	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGCCTCCGTGATCGTGATCTC	0.358000													6	110					0	0	0.003080	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													4	37					0	0	0.004482	0	0
CHD9	80205	broad.mit.edu	37	16	53272403	53272403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:53272403C>T	ENST00000566029.1	+	12	2991	c.2782C>T	c.(2782-2784)Cgt>Tgt	p.R928C	CHD9_ENST00000447540.1_Missense_Mutation_p.R928C|CHD9_ENST00000398510.3_Missense_Mutation_p.R928C|CHD9_ENST00000564845.1_Missense_Mutation_p.R928C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	928	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAGAGAATTTCGTACGTGGAC	0.403000													63	51					0	0	0.003610	0	0
KCNA4	3739	broad.mit.edu	37	11	30034030	30034030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:30034030G>A	ENST00000328224.6	-	2	1429	c.196C>T	c.(196-198)Cag>Tag	p.Q66*		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	66						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCGCGTGACTGGTGGTGGTGG	0.657000													16	38					0	0	0.004990	0	0
KSR1	8844	broad.mit.edu	37	17	25783803	25783803	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:25783803A>G	ENST00000319524.6	+	1	134	c.134A>G	c.(133-135)cAg>cGg	p.Q45R	KSR1_ENST00000509603.2_Missense_Mutation_p.Q45R			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	43					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGGCAGCTCCAGAAGCTCATC	0.711000													4	23					0	0	0.000602	0	0
USP2	9099	broad.mit.edu	37	11	119228485	119228485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:119228485G>A	ENST00000260187.2	-	10	1777	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	USP2_ENST00000525735.1_Missense_Mutation_p.P286S|USP2_ENST00000455332.2_Missense_Mutation_p.P252S	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	495	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AAGATCTTTGGGAACCTCTGG	0.502000													85	284					0	0	0.003610	0	0
SELV	348303	broad.mit.edu	37	19	40009605	40009605	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:40009605C>T	ENST00000423711.1	+	5	1051	c.951C>T	c.(949-951)gtC>gtT	p.V317V	SELV_ENST00000335426.4_Silent_p.V317V			P59797	SELV_HUMAN		317					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGACTGGTCCATTCCAAGA	0.587000													41	99					0	0	0.002522	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270155	1270155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:1270155G>A	ENST00000348261.5	+	35	6471	c.6223G>A	c.(6223-6225)Gga>Aga	p.G2075R	CACNA1H_ENST00000565831.1_Missense_Mutation_p.G2069R|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G2069R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2075					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCATACCTTCGGACAGCGCTG	0.721000													11	8					0	0	0.000673	0	0
LRTM1	57408	broad.mit.edu	37	3	54959082	54959082	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:54959082A>T	ENST00000273286.5	-	2	330	c.168T>A	c.(166-168)caT>caA	p.H56Q	LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	56						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TATCTTGTAAATGCAGCGTTC	0.443000													12	34					0	0	0.000978	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182852601	182852601	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:182852601G>A	ENST00000409137.3	+	2	360	c.117G>A	c.(115-117)gtG>gtA	p.V39V	PPP1R1C_ENST00000452904.1_Silent_p.V39V|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000409702.1_Silent_p.V39V|PPP1R1C_ENST00000280295.3_Silent_p.V46V	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	39					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			CATCACTTGTGATTCTCAATG	0.418000													40	131					0	0	0.003214	0	0
KRT37	8688	broad.mit.edu	37	17	39577720	39577720	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:39577720C>T	ENST00000225550.3	-	6	1139	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	380	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TCTGCCGCTCCAGGTCGGCCC	0.602000													15	36					0	0	0.003163	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627091	43627091	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:43627091G>A	ENST00000332857.6	-	4	1624	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TTTCAGGTAGGGAGAGAGCTT	0.468000													168	431					0	0	0.003610	0	0
SNAI2	6591	broad.mit.edu	37	8	49831426	49831426	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:49831426G>A	ENST00000396822.1	-	4	1104	c.747C>T	c.(745-747)acC>acT	p.T249T	SNAI2_ENST00000020945.1_Silent_p.T249T			O43623	SNAI2_HUMAN	snail family zinc finger 2	249					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTCTGGAGAAGGTTTTGGAGC	0.448000													27	105					0	0	0.001512	0	0
RIBC1	158787	broad.mit.edu	37	X	53455528	53455528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:53455528G>A	ENST00000457095.1	+	5	701	c.497G>A	c.(496-498)aGg>aAg	p.R166K	RIBC1_ENST00000490702.1_3'UTR|RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Missense_Mutation_p.R166K	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	166										lung(2)	2						AACTTGGAAAGGCAACAGCAG	0.552000													10	9					0	0	0.000443	0	0
CLCN2	1181	broad.mit.edu	37	3	184075585	184075585	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:184075585G>A	ENST00000265593.4	-	6	846	c.675C>T	c.(673-675)ctC>ctT	p.L225L	CLCN2_ENST00000457512.1_Silent_p.L225L|CLCN2_ENST00000434054.2_Silent_p.L181L|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Silent_p.L225L	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	225						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TACCCCCAAAGAGGGAGAGGA	0.637000													12	30					0	0	0.002450	0	0
OR2A12	346525	broad.mit.edu	37	7	143792812	143792812	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:143792812C>T	ENST00000408949.2	+	1	672	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTTCTGCGTTCATCTTAGTGG	0.527000													44	184					0	0	0.003610	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64608226	64608226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:64608226C>T	ENST00000498707.1	-	17	2768	c.2426G>A	c.(2425-2427)gGa>gAa	p.G809E	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G781E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	809	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AACAAAGTTTCCATTTAGCAA	0.393000													101	351					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82580556	82580556	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:82580556C>T	ENST00000423517.2	-	6	9685	c.9348G>A	c.(9346-9348)agG>agA	p.R3116R	PCLO_ENST00000333891.8_Silent_p.R3116R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3047					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						CAGACAAATCCCTCACTGTGG	0.448000													26	17					0	0	0.005443	0	0
DSG4	147409	broad.mit.edu	37	18	28979241	28979241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr18:28979241G>A	ENST00000359747.4	+	9	1041	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D338N	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	338	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAGATGCTGGATTATGAACA	0.378000													18	85					0	0	0.006122	0	0
PSMD4	5710	broad.mit.edu	37	1	151237936	151237936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:151237936C>T	ENST00000368884.3	+	6	585	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	PSMD4_ENST00000368881.4_Missense_Mutation_p.H169Y	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	169	VWFA.				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|DNA repair|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 transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AACCGGTTCTCATCTGGTGAC	0.522000													35	69					0	0	0.004878	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463406	5463406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:5463406C>T	ENST00000296564.7	+	13	4181	c.3959C>T	c.(3958-3960)cCa>cTa	p.P1320L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1320										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAACCAACCCCACAAGCAGCT	0.493000													4	14					0	0	0.000248	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763536	140763536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:140763536C>T	ENST00000518325.1	+	1	1070	c.1070C>T	c.(1069-1071)cCt>cTt	p.P357L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCAATCCCTGAAGACACA	0.428000													12	39					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9059418	9059418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:9059418G>A	ENST00000397910.4	-	3	28231	c.28028C>T	c.(28027-28029)tCa>tTa	p.S9343L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9345	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						GGAGGTGTCTGATGACATTGT	0.512000													28	76					0	0	0.005443	0	0
TNR	7143	broad.mit.edu	37	1	175334325	175334325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:175334325C>T	ENST00000367674.1	-	12	3116	c.2408G>A	c.(2407-2409)aGa>aAa	p.R803K	TNR_ENST00000263525.2_Missense_Mutation_p.R803K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	803	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGAATGAGTCTGTCTGCTGG	0.537000													15	45					0	0	0.002450	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210447	100210447	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:100210447G>A	ENST00000393950.2	+	1	315	c.33G>A	c.(31-33)ctG>ctA	p.L11L	MOSPD3_ENST00000424091.2_Silent_p.L11L|MOSPD3_ENST00000379527.2_Silent_p.L11L|MOSPD3_ENST00000223054.4_Silent_p.L11L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	11						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCAGGAGCTGGTGGGTccgg	0.726000													11	21					0	0	0.000673	0	0
NLN	57486	broad.mit.edu	37	5	65073320	65073320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:65073320G>A	ENST00000380985.5	+	4	695	c.517G>A	c.(517-519)Ggg>Agg	p.G173R	NLN_ENST00000502464.1_Missense_Mutation_p.G69R	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	173					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AATTAAAATGGGGAAAAGAAA	0.338000													14	44					0	0	0.004990	0	0
C6orf15	29113	broad.mit.edu	37	6	31079793	31079793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:31079793G>A	ENST00000259870.3	-	2	346	c.343C>T	c.(343-345)Cct>Tct	p.P115S		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	115										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ATCTGCCAAGGATCCTCAGGG	0.652000													17	55					0	0	0.001523	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482325	156482325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:156482325G>A	ENST00000339252.3	-	2	798	c.266C>T	c.(265-267)tCt>tTt	p.S89F	HAVCR1_ENST00000522693.1_Missense_Mutation_p.S89F|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S89F|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S89F|HAVCR1_ENST00000425854.1_Missense_Mutation_p.S89F	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	89	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGGTCAAAGAGACATCCCT	0.468000													164	444					0	0	0.003610	0	0
DEFB118	117285	broad.mit.edu	37	20	29960927	29960927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:29960927G>A	ENST00000253381.2	+	2	359	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	109					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTGAGGCGGGAAGGGGAACT	0.433000													24	49					0	0	0.004656	0	0
SLC6A19	340024	broad.mit.edu	37	5	1217042	1217042	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:1217042C>T	ENST00000304460.10	+	8	1211	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	385					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTGCGACATCAACGCCTTCC	0.657000													36	99					0	0	0.004289	0	0
ELL	8178	broad.mit.edu	37	19	18557180	18557180	+	Missense_Mutation	SNP	C	C	T	rs115932129	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:18557180C>T	ENST00000262809.4	-	10	1714	c.1643G>A	c.(1642-1644)cGg>cAg	p.R548Q		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	548					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GGTGAACCGCCGCGTGATGCG	0.657000			T	MLL	AL								7	20					0	0	0.001984	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956224	18956224	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:18956224G>A	ENST00000302797.3	-	1	332	c.108C>T	c.(106-108)atC>atT	p.I36I	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	36			I -> V (in dbSNP:rs11024885).		acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAGGGAAACGATGCACGTCA	0.557000													35	207					0	0	0.004878	0	0
PATL1	219988	broad.mit.edu	37	11	59410478	59410478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:59410478G>A	ENST00000300146.9	-	16	2008	c.1924C>T	c.(1924-1926)Ctc>Ttc	p.L642F		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	642	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TAGAGAAGGAGAGAGAAGGGA	0.473000													28	50					0	0	0.004656	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	67					0	0	0.000602	0	0
MTUS2	23281	broad.mit.edu	37	13	29598914	29598914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:29598914G>A	ENST00000431530.3	+	1	167	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	27						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAATAATAATGAAAGCATCTT	0.458000													12	37					0	0	0.000978	0	0
ASTN2	23245	broad.mit.edu	37	9	119202937	119202937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:119202937C>T	ENST00000313400.4	-	22	3833	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K	ASTN2_ENST00000373996.3_Missense_Mutation_p.E1241K|ASTN2_ENST00000288520.5_Missense_Mutation_p.E346K|ASTN2_ENST00000361477.3_Missense_Mutation_p.E297K|ASTN2_ENST00000361209.2_Missense_Mutation_p.E1194K|ASTN2_ENST00000341734.4_Missense_Mutation_p.E297K			O75129	ASTN2_HUMAN	astrotactin 2	1245						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCAAACTTTTCATAGTGAGAG	0.512000													9	56					0	0	0.000443	0	0
ELL	8178	broad.mit.edu	37	19	18557179	18557179	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:18557179C>T	ENST00000262809.4	-	10	1715	c.1644G>A	c.(1642-1644)cgG>cgA	p.R548R		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	548					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GGGTGAACCGCCGCGTGATGC	0.657000			T	MLL	AL								7	19					0	0	0.001984	0	0
RETNLB	84666	broad.mit.edu	37	3	108475928	108475928	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:108475928G>A	ENST00000295755.6	-	1	303	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	35					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GAACATCCTTGATCTTCTTAT	0.502000													11	16					0	0	0.000978	0	0
NOX5	79400	broad.mit.edu	37	15	69347777	69347777	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:69347777G>A	ENST00000260364.5	+	16	2350	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	NOX5_ENST00000455873.3_Silent_p.E666E|NOX5_ENST00000530406.2_Silent_p.E673E|NOX5_ENST00000388866.3_Silent_p.E701E|NOX5_ENST00000448182.3_Silent_p.E655E			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	701					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCAACAAGGAGAAGAAAGACT	0.582000													13	60					0	0	0.003163	0	0
C11orf74	119710	broad.mit.edu	37	11	36654869	36654869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:36654869G>A	ENST00000446510.2	+	3	271	c.172G>A	c.(172-174)Gat>Aat	p.D58N	C11orf74_ENST00000347206.4_Intron|C11orf74_ENST00000334307.5_Missense_Mutation_p.D58N|C11orf74_ENST00000534635.1_Intron			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	58										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GTTTGGAACTGATTCTTCAGA	0.338000													14	39					0	0	0.006122	0	0
OR9A2	135924	broad.mit.edu	37	7	142723915	142723915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:142723915G>A	ENST00000350513.2	-	1	367	c.305C>T	c.(304-306)tCc>tTc	p.S102F		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GGTCCCACAGGAAAAGTTGAG	0.463000													13	57					0	0	0.001368	0	0
RIN3	79890	broad.mit.edu	37	14	93154411	93154411	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr14:93154411C>T	ENST00000216487.7	+	10	2931	c.2772C>T	c.(2770-2772)ttC>ttT	p.F924F	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	924	Ras-associating.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ACCGGCTGTTCGTGCTGGTGG	0.731000													8	13					0	0	0.000443	0	0
RBM27	54439	broad.mit.edu	37	5	145609352	145609352	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:145609352C>T	ENST00000265271.5	+	5	634	c.468C>T	c.(466-468)taC>taT	p.Y156Y	RBM27_ENST00000506502.1_Silent_p.Y156Y	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	156	Arg-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAATTGTACCGTGAGAAGT	0.468000													27	88					0	0	0.003954	0	0
MYCBP2	23077	broad.mit.edu	37	13	77636771	77636771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:77636771G>A	ENST00000407578.2	-	74	13000	c.12734C>T	c.(12733-12735)tCg>tTg	p.S4245L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.S4207L|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S4207L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCTCCCCGAGGAGAGACG	0.423000													7	72					0	0	0.003080	0	0
TRANK1	9881	broad.mit.edu	37	3	36872818	36872818	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:36872818C>T	ENST00000429976.2	-	21	8371	c.8124G>A	c.(8122-8124)agG>agA	p.R2708R	TRANK1_ENST00000428977.2_Silent_p.R2158R|TRANK1_ENST00000301807.6_Silent_p.R2158R			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2708					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCTGGGCTCCCTGGCCTCCT	0.577000													3	16					0	0	0.004672	0	0
RRN3	54700	broad.mit.edu	37	16	15166902	15166902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:15166902G>A	ENST00000198767.6	-	12	1116	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	RRN3_ENST00000563559.1_Missense_Mutation_p.R345C|RRN3_ENST00000540462.1_Missense_Mutation_p.R163C|RRN3_ENST00000429751.2_Missense_Mutation_p.R315C|RRN3_ENST00000327307.7_Missense_Mutation_p.R312C|PDXDC1_ENST00000535621.2_Intron	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	345					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						ATCAGGTCGCGATATAGATCC	0.383000													32	31					0	0	0.001287	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102526637	102526637	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:102526637C>T	ENST00000321521.9	+	28	3957	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	PPIP5K2_ENST00000414217.1_Silent_p.S1128S|PPIP5K2_ENST00000358359.3_Silent_p.S1149S|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1149					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTCTTGCTTCCATTGCTTCTC	0.373000													20	69					0	0	0.001882	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499593	59499593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:59499593G>A	ENST00000307144.4	+	1	552	c.454G>A	c.(454-456)Gga>Aga	p.G152R	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	152					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CCAAGAAAAGGGAGAAACGCG	0.423000													28	70					0	0	0.001271	0	0
DSCAM	1826	broad.mit.edu	37	21	41496239	41496239	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr21:41496239C>T	ENST00000400454.1	-	20	4056	c.3579G>A	c.(3577-3579)gcG>gcA	p.A1193A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1193	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTTCACACCCGCGGGAGGAC	0.597000													18	31					0	0	0.000958	0	0
PKD1L1	168507	broad.mit.edu	37	7	47886648	47886648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:47886648G>A	ENST00000289672.2	-	32	5032	c.4982C>T	c.(4981-4983)tCc>tTc	p.S1661F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1661					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATCCAATAAGGATAAATAGCC	0.388000													5	39					0	0	0.000602	0	0
CSMD2	114784	broad.mit.edu	37	1	34166119	34166119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:34166119G>A	ENST00000373381.4	-	23	3907	c.3731C>T	c.(3730-3732)tCc>tTc	p.S1244F	CSMD2_ENST00000373380.1_Missense_Mutation_p.S117F|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1204	Sushi 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGACTTACTGGAAAAGTGCAG	0.438000													11	37					0	0	0.000673	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	66					0	0	0.000602	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457192	110457192	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:110457192C>T	ENST00000378402.5	+	38	5198	c.5094C>T	c.(5092-5094)ttC>ttT	p.F1698F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1698	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1701fs*7(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGGTCATTTCCCATGTAAAG	0.438000										HNSCC(38;0.096)			57	126					0	0	0.003610	0	0
FAM120C	54954	broad.mit.edu	37	X	54185883	54185883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:54185883G>A	ENST00000375180.2	-	2	922	c.866C>T	c.(865-867)aCc>aTc	p.T289I	FAM120C_ENST00000328235.4_Missense_Mutation_p.T289I	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	289										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GAACTGGTTGGTAGTGAGGTT	0.483000													16	28					0	0	0.004990	0	0
VTCN1	79679	broad.mit.edu	37	1	117699392	117699392	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:117699392G>A	ENST00000369458.3	-	3	327	c.249C>T	c.(247-249)ttC>ttT	p.F83F	VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Silent_p.F86F|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	83	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGCCTTCTTTGAACTCATGGA	0.468000													23	70					0	0	0.003330	0	0
THBS1	7057	broad.mit.edu	37	15	39874527	39874527	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:39874527C>T	ENST00000260356.5	+	3	366	c.201C>T	c.(199-201)atC>atT	p.I67I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	67	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCAACCTGATCCCCCCTGTGC	0.622000													7	34					0	0	0.001984	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763535	140763535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:140763535C>T	ENST00000518325.1	+	1	1069	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCTCAATCCCTGAAGACAC	0.428000													12	40					0	0	0.001368	0	0
COL4A5	1287	broad.mit.edu	37	X	107815064	107815064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:107815064G>A	ENST00000328300.6	+	8	706	c.462G>A	c.(460-462)atG>atA	p.M154I	COL4A5_ENST00000361603.2_Missense_Mutation_p.M154I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	154	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.M154I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCCAGGTATGAAGGTAAGCA	0.348000									Alport syndrome with Diffuse Leiomyomatosis				22	13					0	0	0.002780	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660783	8660783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:8660783C>T	ENST00000270328.4	-	11	1608	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G448S			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	448	Peptidase M12B.				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						AGCCCCAGGCCCGAGCTGCCT	0.602000													33	100					0	0	0.002445	0	0
SLC6A13	6540	broad.mit.edu	37	12	344336	344336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:344336G>A	ENST00000343164.4	-	7	803	c.751C>T	c.(751-753)Cga>Tga	p.R251*	SLC6A13_ENST00000445055.2_Nonsense_Mutation_p.R159*	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	251					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTCACCCCTCGAATTAACAGG	0.537000													25	26					0	0	0.003330	0	0
FLG2	388698	broad.mit.edu	37	1	152327262	152327262	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:152327262G>A	ENST00000388718.5	-	3	3072	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1000	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACCATGTTGGCCATAATTAG	0.498000													165	207					0	0	0.003610	0	0
GLIS3	169792	broad.mit.edu	37	9	3937029	3937029	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:3937029G>A	ENST00000324333.10	-	4	1599	c.1407_splice	c.e4+1	p.T469_splice	GLIS3_ENST00000381971.3_Splice_Site_p.T624_splice|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	469					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CATTCTTACGGTGTCCAGATG	0.557000													26	46					0	0	0.001271	0	0
LRRC6	23639	broad.mit.edu	37	8	133623588	133623588	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:133623588G>A	ENST00000519595.1	-	9	1094	c.996C>T	c.(994-996)atC>atT	p.I332I	LRRC6_ENST00000250173.1_Silent_p.I332I|LRRC6_ENST00000518642.1_Silent_p.I332I			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	332	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CATCAACATCGATTAAAGAGG	0.299000													16	47					0	0	0.000958	0	0
HECW2	57520	broad.mit.edu	37	2	197086970	197086970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:197086970G>A	ENST00000260983.2	-	24	4293	c.4111C>T	c.(4111-4113)Ctc>Ttc	p.L1371F	HECW2_ENST00000409111.1_Missense_Mutation_p.L1015F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1371	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGAACGTGAGGTCTAGGATG	0.448000													16	55					0	0	0.004007	0	0
KIF2B	84643	broad.mit.edu	37	17	51900899	51900899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:51900899G>A	ENST00000268919.4	+	1	661	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	169					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTGCAGCAGGAGATCCGAGC	0.547000													35	61					0	0	0.001287	0	0
CACNA1E	777	broad.mit.edu	37	1	181727218	181727218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:181727218G>A	ENST00000526775.1	+	30	4573	c.4408G>A	c.(4408-4410)Gcc>Acc	p.A1470T	CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1489T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1440T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1421T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1489T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1096T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1470T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1489					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCCATGATCGCCTTGAATAC	0.552000													6	63					0	0	0.001168	0	0
BAGE2	85319	broad.mit.edu	37	21	11039377	11039377	+	RNA	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr21:11039377C>T	ENST00000470054.1	-	0	826									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGACATTTTCATTTCTTCAC	0.338000													12	126					0	0	0.000978	0	0
NPNT	255743	broad.mit.edu	37	4	106888537	106888537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:106888537G>A	ENST00000379987.2	+	11	1754	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	NPNT_ENST00000453617.2_Missense_Mutation_p.G530E|NPNT_ENST00000427316.2_Missense_Mutation_p.G543E|NPNT_ENST00000305572.8_Missense_Mutation_p.G484E|NPNT_ENST00000506666.1_Missense_Mutation_p.G514E|NPNT_ENST00000514622.1_Missense_Mutation_p.G484E	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	513	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GCCCTGTGGGGAAGAAATGGT	0.582000													12	32					0	0	0.001368	0	0
FAM114A1	92689	broad.mit.edu	37	4	38933073	38933073	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:38933073C>T	ENST00000358869.2	+	11	1339	c.1161_splice	c.e11-1	p.A388_splice	FAM114A1_ENST00000515037.1_Splice_Site_p.A181_splice	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	388						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTCTGCAGGCCATGAAGAGG	0.453000													14	35					0	0	0.003163	0	0
CD1C	911	broad.mit.edu	37	1	158262023	158262023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:158262023C>T	ENST00000368170.3	+	3	757	c.478C>T	c.(478-480)Caa>Taa	p.Q160*		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	160					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAGTTTGGCCCAAAGTGTCTG	0.458000													71	208					0	0	0.003610	0	0
HCN3	57657	broad.mit.edu	37	1	155255737	155255737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:155255737G>A	ENST00000368358.3	+	6	1467	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	487						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	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)			ACGCCTCACCGATGGATCCTA	0.657000													68	105					0	0	0.003610	0	0
FRAS1	80144	broad.mit.edu	37	4	79400617	79400617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:79400617G>A	ENST00000264895.6	+	56	8628	c.8188G>A	c.(8188-8190)Gat>Aat	p.D2730N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2725	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCAGGCTCTGATTTTAAATC	0.463000													12	29					0	0	0.001855	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358708	16358708	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:16358708C>T	ENST00000375692.1	+	18	1895	c.1767C>T	c.(1765-1767)atC>atT	p.I589I	CLCNKA_ENST00000439316.2_Silent_p.I546I|CLCNKA_ENST00000420078.1_Silent_p.I589I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Silent_p.I589I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	589	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)	AGTCCCAGATCCTGGTAGGCA	0.622000													12	45					0	0	0.002450	0	0
GRID1	2894	broad.mit.edu	37	10	88123843	88123843	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:88123843G>A	ENST00000327946.7	-	2	175	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	30						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CGTTCTCCTCGAAGATGGCAC	0.597000										Multiple Myeloma(13;0.14)			13	25					0	0	0.002450	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182605	140182605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:140182605C>T	ENST00000522353.2	+	1	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA3_ENST00000532566.2_Missense_Mutation_p.S608L|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.677000													15	53					0	0	0.003163	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324474	79324474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:79324474G>A	ENST00000428286.1	-	8	2839	c.1639C>T	c.(1639-1641)Cct>Tct	p.P547S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P906S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	906					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTAGTTTTAGGATCCACTAAA	0.428000													46	121					0	0	0.003610	0	0
HP	3240	broad.mit.edu	37	16	72094402	72094402	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:72094402G>A	ENST00000355906.5	+	7	892	c.834G>A	c.(832-834)gtG>gtA	p.V278V	HP_ENST00000565574.1_Silent_p.V219V|HP_ENST00000562526.1_Intron|HP_ENST00000570083.1_Silent_p.V219V|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Silent_p.V219V	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	278	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TAGGGCGTGTGGGTTATGTTT	0.453000													29	14					0	0	0.001786	0	0
TSSC2	650368	broad.mit.edu	37	11	3429945	3429945	+	RNA	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:3429945G>A	ENST00000529482.1	+	0	2074																											CTGATCCTGCGGGCAAGCTAA	0.532000													11	32					0	0	0.000673	0	0
CACNA1D	776	broad.mit.edu	37	3	53779704	53779704	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:53779704C>T	ENST00000288139.3	+	25	3238	c.3120C>T	c.(3118-3120)atC>atT	p.I1040I	CACNA1D_ENST00000350061.5_Silent_p.I1020I|CACNA1D_ENST00000422281.2_Silent_p.I1020I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1020					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACATCATGATCGTCACCACCC	0.532000													20	60					0	0	0.004656	0	0
ABCA13	154664	broad.mit.edu	37	7	48237956	48237956	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:48237956C>T	ENST00000435803.1	+	3	310	c.287_splice	c.e3+1	p.R96_splice		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	96					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCATCATTTTCGGTAAGAGAA	0.403000													4	26					0	0	0.000248	0	0
MSN	4478	broad.mit.edu	37	X	64959629	64959629	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:64959629C>T	ENST00000360270.5	+	13	1780	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	536					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GAGATGAGTCCAAGAAGACTG	0.522000			T	ALK	ALCL								22	17					0	0	0.001882	0	0
AGFG2	3268	broad.mit.edu	37	7	100153332	100153332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:100153332C>T	ENST00000300176.4	+	6	973	c.851C>T	c.(850-852)tCg>tTg	p.S284L	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	284					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTCAAGCCTCGTTCCAGGCC	0.532000													95	93					0	0	0.003610	0	0
KIAA0922	23240	broad.mit.edu	37	4	154523767	154523767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:154523767C>T	ENST00000409663.3	+	23	2576	c.2524C>T	c.(2524-2526)Cgc>Tgc	p.R842C	KIAA0922_ENST00000409959.3_Missense_Mutation_p.R843C|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R759C	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	842						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCTAGAATTTCGCTTCACTCT	0.498000													22	61					0	0	0.001882	0	0
FLG2	388698	broad.mit.edu	37	1	152326343	152326343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:152326343C>T	ENST00000388718.5	-	3	3991	c.3919G>A	c.(3919-3921)Gtt>Att	p.V1307I	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1307							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTGCGAACTGTGGATCCT	0.473000													50	245					0	0	0.003610	0	0
MPP6	51678	broad.mit.edu	37	7	24663358	24663358	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:24663358C>T	ENST00000396475.2	+	3	371	c.72C>T	c.(70-72)ttC>ttT	p.F24F	MPP6_ENST00000409761.1_Intron|MPP6_ENST00000222644.4_Silent_p.F24F	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	24	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACCTAATTTTCCTCAAGGGAA	0.348000													7	70					0	0	0.001984	0	0
CSH1	1442	broad.mit.edu	37	17	61972654	61972654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:61972654C>T	ENST00000329882.8	-	4	705	c.635G>A	c.(634-636)gGa>gAa	p.G212E	CSH1_ENST00000316193.8_Intron|CSH1_ENST00000453363.3_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TATCCATTTTCCTCCCTCCCC	0.537000									Russell-Silver syndrome				31	100					0	0	0.002445	0	0
IFNG	3458	broad.mit.edu	37	12	68551791	68551791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:68551791G>A	ENST00000229135.3	-	3	399	c.268C>T	c.(268-270)Caa>Taa	p.Q90*	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	90					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	ACACTCTTTTGGATGCTCTGG	0.363000													37	60					0	0	0.003271	0	0
PNCK	139728	broad.mit.edu	37	X	152938026	152938026	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:152938026G>A	ENST00000393831.2	-	3	629	c.195C>T	c.(193-195)ctC>ctT	p.L65L	PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Silent_p.L82L|PNCK_ENST00000340888.3_Silent_p.L65L|PNCK_ENST00000447676.2_Silent_p.L148L|PNCK_ENST00000370142.1_Silent_p.L65L|PNCK_ENST00000370150.1_Silent_p.L65L	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	65	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCACCTACGGAGCACTGCGA	0.682000													21	18					0	0	0.004656	0	0
UBLCP1	134510	broad.mit.edu	37	5	158710336	158710336	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:158710336A>T	ENST00000296786.6	+	10	1244	c.918A>T	c.(916-918)aaA>aaT	p.K306N		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	306						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAATCACAAATATTGGGAAA	0.289000													20	84					0	0	0.002780	0	0
WDR90	197335	broad.mit.edu	37	16	716594	716594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:716594C>T	ENST00000549091.1	+	38	4978	c.4886C>T	c.(4885-4887)aCg>aTg	p.T1629M	WDR90_ENST00000315764.4_Intron|WDR90_ENST00000293879.4_Missense_Mutation_p.T1627M|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Missense_Mutation_p.T226M	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1627										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCTGCCACCACGGAGGTAAAC	0.652000													18	14					0	0	0.001523	0	0
ITPR1	3708	broad.mit.edu	37	3	4859857	4859857	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:4859857C>T	ENST00000354582.6	+	59	8264	c.7914C>T	c.(7912-7914)atC>atT	p.I2638I	AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000456211.2_Silent_p.I2590I|ITPR1_ENST00000443694.2_Silent_p.I2638I|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000423119.2_Silent_p.I2605I|ITPR1_ENST00000357086.4_Silent_p.I2605I|ITPR1_ENST00000302640.8_Silent_p.I2638I|ITPR1_ENST00000544951.1_Silent_p.I616I|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000441894.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2653					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGTGCTTCATCGTCCTGGTGA	0.468000													10	27					0	0	0.000673	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153275001	153275001	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:153275001G>A	ENST00000290722.1	-	5	664	c.612C>T	c.(610-612)gtC>gtT	p.V204V		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	204					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGATGATGATGACATATTTGG	0.478000													48	86					0	0	0.003610	0	0
SCG3	29106	broad.mit.edu	37	15	51993377	51993377	+	Silent	SNP	A	A	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:51993377A>G	ENST00000220478.3	+	10	1546	c.1143A>G	c.(1141-1143)ggA>ggG	p.G381G	SCG3_ENST00000542355.2_Silent_p.G149G	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	381					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGGAATATGGAAGCTTGAAGG	0.413000													24	64					0	0	0.002780	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190438	209190438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:209190438C>T	ENST00000264380.4	+	20	3061	c.2903C>T	c.(2902-2904)cCt>cTt	p.P968L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	968					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GCGGGTCTCCCTTGTGCTTTC	0.507000													27	50					0	0	0.004656	0	0
USH2A	7399	broad.mit.edu	37	1	216246511	216246511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:216246511C>T	ENST00000366943.2	-	28	6090	c.5704G>A	c.(5704-5706)Gga>Aga	p.G1902R	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1902R|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1902	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGTCATTTCCCCTGCAGTTA	0.488000										HNSCC(13;0.011)			18	16					0	0	0.006122	0	0
LPHN2	23266	broad.mit.edu	37	1	82372750	82372750	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:82372750C>A	ENST00000370728.1	+	6	767	c.122C>A	c.(121-123)tCc>tAc	p.S41Y	LPHN2_ENST00000370715.1_Missense_Mutation_p.S41Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.S41Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.S41Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.S41Y|LPHN2_ENST00000359929.3_Missense_Mutation_p.S41Y|LPHN2_ENST00000319517.6_Missense_Mutation_p.S41Y|LPHN2_ENST00000370725.1_Missense_Mutation_p.S41Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.S41Y|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_Missense_Mutation_p.S41Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.S41Y|LPHN2_ENST00000370721.1_Missense_Mutation_p.S41Y|LPHN2_ENST00000394879.1_Missense_Mutation_p.S41Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.S41Y			O95490	LPHN2_HUMAN	latrophilin 2	41	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGAGAATTATCCTGTGAAGGT	0.393000													10	40					6.40141e-05	0.000231656	0.000978	1	0
ZNF160	90338	broad.mit.edu	37	19	53571746	53571746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:53571746G>A	ENST00000601421.1	-	3	2809	c.1933C>T	c.(1933-1935)Caa>Taa	p.Q645*	ZNF160_ENST00000429604.1_Nonsense_Mutation_p.Q681*|ZNF160_ENST00000418871.1_Nonsense_Mutation_p.Q681*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.Q681*			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	681					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTGCCACATTGATTACATTTG	0.433000													25	75					0	0	0.003330	0	0
PDILT	204474	broad.mit.edu	37	16	20387405	20387405	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:20387405G>A	ENST00000302451.4	-	4	776	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	176					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGAAGCCAACGATGACCAAGG	0.522000													21	24					0	0	0.002299	0	0
KCNQ2	3785	broad.mit.edu	37	20	62071036	62071036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:62071036C>T	ENST00000354587.3	-	6	1018	c.842G>A	c.(841-843)gGg>gAg	p.G281E	KCNQ2_ENST00000370224.1_Missense_Mutation_p.G281E|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G281E|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G281E|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G281E|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G281E|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G281E|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G281E|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G281E|KCNQ2_ENST00000370222.3_Missense_Mutation_p.G281E|KCNQ2_ENST00000370221.1_Missense_Mutation_p.G281E|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G281E			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	281					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTACTTGTCCCCGTAGCCAAT	0.642000													23	65					0	0	0.003954	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971116	21971116	+	Missense_Mutation	SNP	G	G	A	rs11552823		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:21971116G>A	ENST00000304494.5	-	2	512	c.242C>T	c.(241-243)cCc>cTc	p.P81L	CDKN2A_ENST00000446177.1_Missense_Mutation_p.P81L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P30L|CDKN2A_ENST00000361570.3_Silent_p.T136T|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P30L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P30L|CDKN2A_ENST00000530628.2_Silent_p.T95T|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P30L|CDKN2A_ENST00000579755.1_Silent_p.T95T|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P81L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P30L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P81L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	81			P -> L (in some patients with melanoma; impairs the function; dbSNP:rs11552823).|P -> T (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P81L(8)|p.P81H(2)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCGTGCACGGGTCGGGTGAG	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			48	79					0	0	0.003610	0	0
ARSH	347527	broad.mit.edu	37	X	2933118	2933118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:2933118G>A	ENST00000381130.2	+	4	448	c.448G>A	c.(448-450)Gac>Aac	p.D150N		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	150						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACTTTTAAGCGACTGCCAGGC	0.532000													10	6					0	0	0.000673	0	0
GFI1	2672	broad.mit.edu	37	1	92946641	92946641	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:92946641C>T	ENST00000370332.1	-	4	621	c.303G>A	c.(301-303)tcG>tcA	p.S101S	GFI1_ENST00000294702.5_Silent_p.S101S|GFI1_ENST00000427103.1_Silent_p.S101S	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	101					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TTGACTTCTCCGAGGCTGTGG	0.682000													7	12					0	0	0.004482	0	0
PCLO	27445	broad.mit.edu	37	7	82579037	82579037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:82579037G>A	ENST00000423517.2	-	6	11204	c.10867C>T	c.(10867-10869)Ctt>Ttt	p.L3623F	PCLO_ENST00000333891.8_Missense_Mutation_p.L3623F|PCLO_ENST00000437081.1_Missense_Mutation_p.L343F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3554					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						GGTGAGTAAAGGACTTTGGGG	0.478000													89	56					0	0	0.003610	0	0
LAMA3	3909	broad.mit.edu	37	18	21338382	21338382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr18:21338382C>T	ENST00000313654.9	+	7	1211	c.970C>T	c.(970-972)Cac>Tac	p.H324Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.H324Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	324	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGCCAGCACCACACCTGTGG	0.562000													9	19					0	0	0.000443	0	0
ACTL8	81569	broad.mit.edu	37	1	18152383	18152383	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:18152383T>G	ENST00000375406.1	+	3	686	c.470T>G	c.(469-471)gTg>gGg	p.V157G		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	157						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CTGACCCGCGTGCAGCCTTTC	0.637000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	24					0	0	0.000602	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661398	176661398	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:176661398C>T	ENST00000367662.3	+	6	3732	c.2568C>T	c.(2566-2568)acC>acT	p.T856T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	856					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCGGACAGACCAACAAGTCCC	0.517000													36	159					0	0	0.001287	0	0
MBD5	55777	broad.mit.edu	37	2	149240855	149240855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:149240855C>T	ENST00000407073.1	+	10	3692	c.2695C>T	c.(2695-2697)Cat>Tat	p.H899Y	MBD5_ENST00000404807.1_Missense_Mutation_p.H899Y	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	899						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCACGCACTTCATTTTCCATC	0.498000													44	159					0	0	0.002222	0	0
RELN	5649	broad.mit.edu	37	7	103202089	103202089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:103202089C>T	ENST00000424685.2	-	36	5578	c.5419G>A	c.(5419-5421)Gat>Aat	p.D1807N	RELN_ENST00000428762.1_Missense_Mutation_p.D1807N|RELN_ENST00000343529.5_Missense_Mutation_p.D1807N			P78509	RELN_HUMAN	reelin	1807					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCATTGAAATCGTCTTTAAGA	0.453000													11	42					0	0	0.000978	0	0
RNF20	56254	broad.mit.edu	37	9	104319879	104319879	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:104319879G>A	ENST00000389120.3	+	16	2472		c.e16+1			NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase						histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAAGACTCAGGTAATTAGGAT	0.393000													7	28					0	0	0.004482	0	0
CDH9	1007	broad.mit.edu	37	5	26881619	26881619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:26881619C>T	ENST00000231021.4	-	12	2168	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	666					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTATCTTCTTCCCCGCCGCCT	0.428000													49	128					0	0	0.003610	0	0
P2RY14	9934	broad.mit.edu	37	3	150931748	150931748	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:150931748T>A	ENST00000309170.3	-	3	669	c.357A>T	c.(355-357)agA>agT	p.R119S	MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.R119S|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	119						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTTATAATATCTGTCAAAGC	0.453000													16	34					0	0	0.003163	0	0
NRXN1	9378	broad.mit.edu	37	2	51254859	51254859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:51254859G>A	ENST00000404971.1	-	2	1892	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	NRXN1_ENST00000402717.3_Missense_Mutation_p.R185C|NRXN1_ENST00000401669.2_Missense_Mutation_p.R185C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R185C|NRXN1_ENST00000406316.2_Missense_Mutation_p.R185C|NRXN1_ENST00000406859.3_Missense_Mutation_p.R185C|NRXN1_ENST00000405581.1_Missense_Mutation_p.R185C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	185	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACGTCACGAATCCACCCC	0.706000													5	9					0	0	0.000602	0	0
EDIL3	10085	broad.mit.edu	37	5	83360657	83360657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:83360657G>A	ENST00000296591.5	-	8	1232	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.R262C	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	272	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATGTTTCCACGAAACACCTGT	0.338000													8	37					0	0	0.003080	0	0
TMC2	117532	broad.mit.edu	37	20	2582822	2582822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:2582822C>T	ENST00000358864.1	+	11	1303	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	430						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGATTTCTTCGTGTCCTGGC	0.388000													17	57					0	0	0.004990	0	0
ACAN	176	broad.mit.edu	37	15	89401563	89401563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:89401563G>A	ENST00000439576.2	+	12	6121	c.5747G>A	c.(5746-5748)aGc>aAc	p.S1916N	ACAN_ENST00000559004.1_Missense_Mutation_p.S1916N|ACAN_ENST00000352105.7_Missense_Mutation_p.S1916N|ACAN_ENST00000561243.1_Missense_Mutation_p.S1916N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1916					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATTGGGAGCAGCCTGCCCTCG	0.522000													15	53					0	0	0.003163	0	0
PIAS1	8554	broad.mit.edu	37	15	68434638	68434638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:68434638G>A	ENST00000545237.1	+	5	1312	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	PIAS1_ENST00000249636.6_Missense_Mutation_p.G189R			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	189	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GGATATTTCTGGGACCAAATG	0.338000													8	21					0	0	0.000673	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024621	203024621	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:203024621A>G	ENST00000367240.2	+	15	2355	c.1828A>G	c.(1828-1830)Acc>Gcc	p.T610A	PPFIA4_ENST00000272198.6_Missense_Mutation_p.T125A|PPFIA4_ENST00000295706.4_Missense_Mutation_p.T125A|PPFIA4_ENST00000414050.2_Missense_Mutation_p.T338A|PPFIA4_ENST00000599966.1_Missense_Mutation_p.T125A|PPFIA4_ENST00000447715.2_Missense_Mutation_p.T609A			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	125	SAM 3.				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						GACGCGTGTAACCAGTGGCAG	0.617000													33	31					0	0	0.002445	0	0
LILRA4	23547	broad.mit.edu	37	19	54849758	54849758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:54849758C>T	ENST00000291759.4	-	3	320	c.264G>A	c.(262-264)atG>atA	p.M88I		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	88	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTCCCACATCATGGATGGGA	0.527000													25	77					0	0	0.005443	0	0
TTLL13P	440307	broad.mit.edu	37	15	90794035	90794035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:90794035C>T	ENST00000561573.1	+	2	437	c.173C>T	c.(172-174)gCc>gTc	p.A58V	TTLL13_ENST00000339615.5_Missense_Mutation_p.A58V|TTLL13_ENST00000438251.1_Missense_Mutation_p.A58V																							CCCATTATGGCCACAAAAATT	0.468000													25	105					0	0	0.005443	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190437	209190437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:209190437C>T	ENST00000264380.4	+	20	3060	c.2902C>T	c.(2902-2904)Cct>Tct	p.P968S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	968					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGCGGGTCTCCCTTGTGCTTT	0.507000													28	51					0	0	0.001061	0	0
FGGY	55277	broad.mit.edu	37	1	60139762	60139762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:60139762C>T	ENST00000371218.4	+	15	1725	c.1541C>T	c.(1540-1542)gCt>gTt	p.A514V	FGGY_ENST00000303721.7_Missense_Mutation_p.A490V|FGGY_ENST00000371212.1_Missense_Mutation_p.A402V|FGGY_ENST00000371210.1_Missense_Mutation_p.A191V	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	490					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GTGGGTGCTGCTGTTCTGGGT	0.612000													6	30					0	0	0.003080	0	0
MYOM2	9172	broad.mit.edu	37	8	2057230	2057230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:2057230G>A	ENST00000262113.4	+	25	3229	c.3088G>A	c.(3088-3090)Ggg>Agg	p.G1030R	MYOM2_ENST00000523438.1_Missense_Mutation_p.G455R	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1030					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTTTGATAAGGGGCGGGTTCG	0.438000													10	35					0	0	0.000978	0	0
TARS2	80222	broad.mit.edu	37	1	150471004	150471004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:150471004C>T	ENST00000369064.3	+	11	1299	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.S340F|TARS2_ENST00000369054.2_Missense_Mutation_p.S292F|TARS2_ENST00000463555.1_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	422					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CGGCCCAGATCCTGGCGGGAA	0.657000													15	70					0	0	0.004990	0	0
LRTM2	654429	broad.mit.edu	37	12	1940101	1940101	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:1940101G>A	ENST00000543818.1	+	4	910	c.67_splice	c.e4-1	p.W23_splice	CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000535041.1_Splice_Site_p.W23_splice|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Splice_Site_p.W23_splice	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	23						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TCCCACCAAGGGATCACCTGC	0.592000													7	21					0	0	0.003080	0	0
F2	2147	broad.mit.edu	37	11	46750981	46750981	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:46750981G>A	ENST00000311907.5	+	12	1580	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K	F2_ENST00000530231.1_Silent_p.K469K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	508	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCAACCTGAAGGAGACGTGGA	0.632000													27	60					0	0	0.002096	0	0
EVC2	132884	broad.mit.edu	37	4	5624385	5624385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:5624385C>T	ENST00000310917.2	-	14	2871	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K	EVC2_ENST00000344938.1_Missense_Mutation_p.E794K|EVC2_ENST00000344408.5_Missense_Mutation_p.E794K	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	794						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCCTCTCCTCCCCCTCCAGC	0.662000													10	21					0	0	0.000673	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378025	55378025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:55378025C>T	ENST00000326321.3	+	9	1240	c.1207C>T	c.(1207-1209)Cac>Tac	p.H403Y	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.H403Y|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.H386Y	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	403					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACAGTTGGATCACTGCGTTTT	0.512000													65	211					0	0	0.003610	0	0
GALNTL5	168391	broad.mit.edu	37	7	151684324	151684324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:151684324G>A	ENST00000392800.2	+	5	870	c.616G>A	c.(616-618)Ggg>Agg	p.G206R	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G206R	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	206	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.G206fs*25(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AAAGAGAGAGGGGCTGATTCG	0.428000													8	80					0	0	0.004482	0	0
ARMC9	80210	broad.mit.edu	37	2	232079550	232079550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:232079550C>T	ENST00000349938.4	+	4	378	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	62							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ACAGAAGGATCTTGTCGCTGC	0.468000													17	64					0	0	0.006122	0	0
ITGB4	3691	broad.mit.edu	37	17	73739891	73739891	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:73739891G>A	ENST00000200181.3	+	26	3247	c.3060G>A	c.(3058-3060)ggG>ggA	p.G1020G	ITGB4_ENST00000450894.3_Silent_p.G1020G|ITGB4_ENST00000339591.3_Silent_p.G1020G|ITGB4_ENST00000449880.2_Silent_p.G1020G|ITGB4_ENST00000579662.1_Silent_p.G1020G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1020	Calx-beta.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGACGGCGGGAAGTCCCAGG	0.701000													6	20					0	0	0.001168	0	0
MYO18A	399687	broad.mit.edu	37	17	27421799	27421799	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:27421799A>C	ENST00000527372.1	-	30	4759	c.4579T>G	c.(4579-4581)Tct>Gct	p.S1527A	MYO18A_ENST00000533112.1_Missense_Mutation_p.S1527A|MYO18A_ENST00000531253.1_Missense_Mutation_p.S1527A|MYO18A_ENST00000354329.4_Missense_Mutation_p.S1527A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1527					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCTTGGGAAGAAATGTCCTGG	0.527000													27	89					0	0	0.001061	0	0
RTP1	132112	broad.mit.edu	37	3	186917640	186917640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:186917640G>A	ENST00000312295.4	+	2	604	c.574G>A	c.(574-576)Gag>Aag	p.E192K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	192					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGAGTTCTGCGAGGCCTGCCA	0.701000													15	30					0	0	0.003163	0	0
NT5C1B	93034	broad.mit.edu	37	2	18766227	18766227	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:18766227C>T	ENST00000304081.4	-	4	376	c.276G>A	c.(274-276)acG>acA	p.T92T	NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000359846.2_Silent_p.T152T|NT5C1B-RDH14_ENST00000532967.1_Silent_p.T152T|NT5C1B_ENST00000600945.1_Silent_p.T152T	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TCCGGGAGCTCGTGGAGCTGC	0.662000													4	16					0	0	0.000248	0	0
POLQ	10721	broad.mit.edu	37	3	121207238	121207238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:121207238G>A	ENST00000264233.5	-	16	4668	c.4540C>T	c.(4540-4542)Cct>Tct	p.P1514S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1514					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACTTCTGAAGGAAGGGGTTCT	0.323000								DNA polymerases (catalytic subunits)					21	47					0	0	0.001216	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190876	42190876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:42190876G>A	ENST00000006724.3	-	2	542	c.341C>T	c.(340-342)aCc>aTc	p.T114I	CEACAM7_ENST00000401731.1_Missense_Mutation_p.T114I|CEACAM7_ENST00000338196.4_Missense_Mutation_p.T114I|CEACAM7_ENST00000602225.1_Missense_Mutation_p.T114I|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	114	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GTCATTGTGGGTGACGTTCTG	0.428000													44	112					0	0	0.003610	0	0
LTBP1	4052	broad.mit.edu	37	2	33585818	33585818	+	Silent	SNP	A	A	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:33585818A>G	ENST00000404816.2	+	27	4508	c.4155A>G	c.(4153-4155)gaA>gaG	p.E1385E	LTBP1_ENST00000402934.1_Silent_p.E1004E|LTBP1_ENST00000354476.3_Silent_p.E1386E|LTBP1_ENST00000272273.5_Silent_p.E283E|LTBP1_ENST00000418533.2_Silent_p.E1017E|LTBP1_ENST00000390003.4_Silent_p.E1060E|LTBP1_ENST00000404525.1_Silent_p.E1006E|LTBP1_ENST00000407925.1_Silent_p.E1059E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1385	TB 3.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATAACTGCGAAATCTTCCCCT	0.498000													19	49					0	0	0.001216	0	0
LTF	4057	broad.mit.edu	37	3	46490375	46490375	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:46490375C>T	ENST00000231751.4	-	9	1486	c.1191G>A	c.(1189-1191)gaG>gaA	p.E397E	LTF_ENST00000417439.1_Silent_p.E397E|LTF_ENST00000426532.2_Silent_p.E353E	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	397	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CGATGCAGTCCTCTGTGGTGG	0.642000													15	39					0	0	0.006122	0	0
TTC27	55622	broad.mit.edu	37	2	32983364	32983364	+	Silent	SNP	A	A	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:32983364A>G	ENST00000317907.4	+	13	1689	c.1458A>G	c.(1456-1458)gaA>gaG	p.E486E		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	486							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCTAGGCAGAAGAAATCCTTA	0.368000													16	42					0	0	0.003163	0	0
DNAH5	1767	broad.mit.edu	37	5	13753555	13753555	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:13753555C>T	ENST00000265104.4	-	63	10763	c.10659G>A	c.(10657-10659)cgG>cgA	p.R3553R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3553					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)					ATGGAATTTTCCGGGCTTTCA	0.398000									Kartagener syndrome				38	97					0	0	0.001287	0	0
TGM4	7047	broad.mit.edu	37	3	44926977	44926977	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:44926977G>A	ENST00000296125.4	+	2	248	c.180G>A	c.(178-180)ctG>ctA	p.L60L		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	60					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AACTGAAACTGGAATTCAGCA	0.577000													7	24					0	0	0.003080	0	0
SELPLG	6404	broad.mit.edu	37	12	109016856	109016856	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:109016856A>G	ENST00000388962.3	-	3	1357	c.1198T>C	c.(1198-1200)Ttc>Ctc	p.F400L	SELPLG_ENST00000550948.1_Missense_Mutation_p.F410L|SELPLG_ENST00000228463.6_Missense_Mutation_p.F426L	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	410					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TAAGGGAGGAAGCTGTGCAGG	0.652000													5	13					0	0	0.000602	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895885	24895885	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:24895885C>T	ENST00000382071.2	+	4	1066	c.981C>T	c.(979-981)ttC>ttT	p.F327F	C1QTNF9_ENST00000332018.4_Silent_p.F327F			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	327	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TCACAGGGTTCCTTCTGTTCA	0.483000													32	67					0	0	0.001485	0	0
ANK2	287	broad.mit.edu	37	4	114170951	114170951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:114170951G>A	ENST00000357077.4	+	10	976	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	ANK2_ENST00000394537.3_Missense_Mutation_p.R308Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R287Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R308Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	308					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTGCTGCACGAAGTGGGCAT	0.458000													15	58					0	0	0.001216	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030179	10030179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:10030179C>T	ENST00000378380.3	+	6	1291	c.962C>T	c.(961-963)cCa>cTa	p.P321L	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.P321L|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GCCAAAAATCCAAATCCACTG	0.527000													37	58					0	0	0.003271	0	0
SCGN	10590	broad.mit.edu	37	6	25661866	25661866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:25661866G>A	ENST00000377961.2	+	3	408	c.240G>A	c.(238-240)atG>atA	p.M80I	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	80	EF-hand 2.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCATTCGGATGAAAGAGGTAA	0.388000													11	24					0	0	0.001368	0	0
MXRA5	25878	broad.mit.edu	37	X	3228297	3228297	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:3228297G>A	ENST00000217939.6	-	7	8101	c.7947C>T	c.(7945-7947)atC>atT	p.I2649I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2649	Ig-like C2-type 11.					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)				CACCATTGATGATGCTGACCA	0.627000													29	25					0	0	0.001061	0	0
GBA3	57733	broad.mit.edu	37	4	22749261	22749261	+	RNA	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:22749261C>T	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCTATGATTCCTTATTTCGA	0.473000													37	109					0	0	0.003271	0	0
GNPDA1	10007	broad.mit.edu	37	5	141384620	141384620	+	Silent	SNP	G	G	A	rs139642867		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:141384620G>A	ENST00000508177.1	-	4	1229	c.471C>T	c.(469-471)acC>acT	p.T157T	GNPDA1_ENST00000500692.2_Silent_p.T157T|GNPDA1_ENST00000503794.1_Silent_p.T157T|GNPDA1_ENST00000311337.6_Silent_p.T157T|GNPDA1_ENST00000542860.1_Silent_p.T80T|GNPDA1_ENST00000513454.1_Silent_p.T157T|GNPDA1_ENST00000458112.2_Silent_p.T123T			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	157					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCACACGGGTCCTGGACA	0.607000													11	26					0	0	0.000978	0	0
NOLC1	9221	broad.mit.edu	37	10	103921610	103921610	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:103921610C>T	ENST00000405356.1	+	12	2134	c.1899C>T	c.(1897-1899)tcC>tcT	p.S633S	NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Silent_p.S342S|NOLC1_ENST00000605788.1_Silent_p.S623S|NOLC1_ENST00000488254.2_Silent_p.S624S			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	623					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGGCATCATCCCCATTCCGAA	0.468000													12	35					0	0	0.002450	0	0
PHTF1	10745	broad.mit.edu	37	1	114253057	114253057	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:114253057T>C	ENST00000369604.1	-	11	1571	c.1088A>G	c.(1087-1089)aAc>aGc	p.N363S	PHTF1_ENST00000357783.2_Missense_Mutation_p.N363S|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000393357.2_Missense_Mutation_p.N363S|PHTF1_ENST00000369596.2_Missense_Mutation_p.N310S|PHTF1_ENST00000369598.1_Missense_Mutation_p.N318S|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.N310S			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	363						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGACATGTTGAGGCTTCG	0.453000													13	46					0	0	0.001855	0	0
TMC3	342125	broad.mit.edu	37	15	81627285	81627285	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:81627285C>T	ENST00000558726.1	-	21	2373	c.2238G>A	c.(2236-2238)aaG>aaA	p.K746K	RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Silent_p.K745K|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	745						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTGGAAGCTTCTTGGTGCTTT	0.547000													4	47					0	0	0.000602	0	0
NR5A1	2516	broad.mit.edu	37	9	127262838	127262838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:127262838G>A	ENST00000373588.4	-	4	597	c.401C>T	c.(400-402)cCc>cTc	p.P134L		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	134					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GTCCGGTGCGGGAGGGGGCGG	0.711000													15	26					0	0	0.004990	0	0
CSF3	1440	broad.mit.edu	37	17	38173119	38173119	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:38173119C>T	ENST00000331769.2	+	4	726	c.510C>T	c.(508-510)ttC>ttT	p.F170F	CSF3_ENST00000394148.3_Silent_p.F141F|CSF3_ENST00000394149.3_Silent_p.F174F|CSF3_ENST00000225474.2_Silent_p.F177F|CSF3_ENST00000577675.1_Silent_p.F134F			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	177					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCTCTGCTTTCCAGCGCCGGG	0.647000													13	33					0	0	0.001855	0	0
FGD5	152273	broad.mit.edu	37	3	14905767	14905767	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:14905767G>A	ENST00000285046.5	+	2	2768	c.2658_splice	c.e2+1	p.K886_splice	FGD5_ENST00000543601.1_Splice_Site_p.K645_splice	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	886					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						TCACCCACAAGGTAGGGCACC	0.597000													19	53					0	0	0.001216	0	0
EDN1	1906	broad.mit.edu	37	6	12296235	12296235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:12296235G>A	ENST00000379375.5	+	5	841	c.574G>A	c.(574-576)Gat>Aat	p.D192N		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	192					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ATCTTTTCATGATCCCAAGCT	0.448000													45	123					0	0	0.003610	0	0
SPATA20	64847	broad.mit.edu	37	17	48632649	48632649	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:48632649C>T	ENST00000006658.6	+	16	2334	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	SPATA20_ENST00000393244.3_Silent_p.V678V|SPATA20_ENST00000356488.4_Silent_p.V722V|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	722					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGCAGTGCGTCCACTCTGTCT	0.587000													23	19					0	0	0.001786	0	0
BIN2	51411	broad.mit.edu	37	12	51696549	51696549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:51696549G>A	ENST00000267012.4	-	4	294	c.233C>T	c.(232-234)tCa>tTa	p.S78L	BIN2_ENST00000604560.1_Missense_Mutation_p.S51L|BIN2_ENST00000452142.2_Missense_Mutation_p.S78L|BIN2_ENST00000544402.1_Missense_Mutation_p.S52L	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	78	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CACTCTTTTTGAACTTTCATG	0.468000													80	55					0	0	0.003610	0	0
SPINK5	11005	broad.mit.edu	37	5	147495967	147495967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:147495967G>A	ENST00000359874.3	+	22	2123	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	SPINK5_ENST00000256084.7_Missense_Mutation_p.E684K|SPINK5_ENST00000398454.1_Missense_Mutation_p.E684K	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	684	Kazal-like 10.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAAAGAAGAGGAAGATCA	0.458000													15	67					0	0	0.003163	0	0
ROR2	4920	broad.mit.edu	37	9	94486979	94486979	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:94486979G>A	ENST00000375708.3	-	9	1995	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.I459I	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	599	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCCGCCGCGATCTGTGCCA	0.622000													14	40					0	0	0.006122	0	0
ALDH3B2	222	broad.mit.edu	37	11	67432808	67432808	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:67432808G>A	ENST00000349015.3	-	7	1092	c.654C>T	c.(652-654)ggC>ggT	p.G218G	ALDH3B2_ENST00000530069.1_Silent_p.G218G	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	218					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CGCGGCTGCAGCCCAGCAATG	0.632000													25	52					0	0	0.001786	0	0
OR2M2	391194	broad.mit.edu	37	1	248343781	248343781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:248343781C>T	ENST00000359682.2	+	1	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCACATTTTCCTTCTCCTTT	0.423000													51	213					0	0	0.003610	0	0
LY9	4063	broad.mit.edu	37	1	160771702	160771702	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:160771702G>T	ENST00000368039.2	+	3	578	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	LY9_ENST00000368040.1_Intron|LY9_ENST00000263285.5_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000471816.1_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	0	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGTGCGGGAGGGCTAGGCCCT	0.701000													38	47					1.07637e-12	3.92157e-12	0.004878	1	0
TLL1	7092	broad.mit.edu	37	4	167020467	167020467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:167020467G>A	ENST00000061240.2	+	20	3342	c.2695G>A	c.(2695-2697)Gat>Aat	p.D899N	TLL1_ENST00000507499.1_Missense_Mutation_p.D922N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	899	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAAACCAAGAGATCTGTACTC	0.423000													23	70					0	0	0.002780	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	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				39	30					0	0	0.001706	0	0
STAB1	23166	broad.mit.edu	37	3	52539712	52539712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:52539712G>A	ENST00000321725.6	+	15	1686	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	537	FAS1 2.				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)		ATCCTGGACGGACCTGGGCCC	0.637000													15	26					0	0	0.004990	0	0
TRIO	7204	broad.mit.edu	37	5	14482699	14482699	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:14482699C>T	ENST00000344204.4	+	46	6498	c.6474C>T	c.(6472-6474)atC>atT	p.I2158I	TRIO_ENST00000537187.1_Silent_p.I2158I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2158	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGGGAAAATCGTTGCCCAGG	0.453000													6	17					0	0	0.003080	0	0
XIST	7503	broad.mit.edu	37	X	73068856	73068856	+	RNA	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:73068856G>A	ENST00000429829.1	-	0	3732					NR_001564.2																						GTTATGCAAAGATGTTTGCAA	0.378000													13	16					0	0	0.001368	0	0
TLR8	51311	broad.mit.edu	37	X	12939508	12939508	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:12939508C>T	ENST00000218032.6	+	2	2436	c.2349C>T	c.(2347-2349)ttC>ttT	p.F783F	TLR8_ENST00000311912.5_Silent_p.F801F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	783	LRRCT.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGGAGATTTCCGAAGATGGA	0.433000													26	17					0	0	0.004656	0	0
USP48	84196	broad.mit.edu	37	1	22055084	22055084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:22055084G>A	ENST00000308271.9	-	11	2077	c.1429C>T	c.(1429-1431)Caa>Taa	p.Q477*	USP48_ENST00000529637.1_Nonsense_Mutation_p.Q476*|USP48_ENST00000421625.2_Nonsense_Mutation_p.Q477*|USP48_ENST00000400301.1_Nonsense_Mutation_p.Q477*	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	477	DUSP 1.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGTAACCTTTGGTACAGCTCC	0.398000													31	80					0	0	0.005524	0	0
DENND3	22898	broad.mit.edu	37	8	142188277	142188277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:142188277G>A	ENST00000519811.1	+	16	2888	c.2818G>A	c.(2818-2820)Gat>Aat	p.D940N	DENND3_ENST00000262585.2_Missense_Mutation_p.D860N|DENND3_ENST00000518806.1_3'UTR|DENND3_ENST00000424248.1_Missense_Mutation_p.D808N			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	860										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)			ATCCTACTTTGATAAGATGAG	0.493000													11	41					0	0	0.000978	0	0
SLC17A6	57084	broad.mit.edu	37	11	22360116	22360116	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:22360116A>T	ENST00000263160.3	+	1	474	c.37A>T	c.(37-39)Aaa>Taa	p.K13*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	13					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGCCCCAGGAAAAGAGGGGCT	0.433000													9	34					0	0	0.000443	0	0
DNM1	1759	broad.mit.edu	37	9	130984795	130984795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:130984795C>T	ENST00000341179.7	+	8	1140	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	DNM1_ENST00000475805.1_Nonsense_Mutation_p.Q350*|DNM1_ENST00000372923.3_Nonsense_Mutation_p.Q350*|DNM1_ENST00000393594.3_Nonsense_Mutation_p.Q350*|DNM1_ENST00000486160.1_Nonsense_Mutation_p.Q350*	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	350					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.Q350E(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCAGGAGATCAGATCGACAC	0.607000													17	50					0	0	0.000958	0	0
MTMR10	54893	broad.mit.edu	37	15	31239448	31239448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:31239448G>A	ENST00000435680.1	-	14	1530	c.1433C>T	c.(1432-1434)cCt>cTt	p.P478L	MTMR10_ENST00000563714.1_Missense_Mutation_p.P396L|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Missense_Mutation_p.P230L	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	478	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AAAAGCTGCAGGATATTGTTC	0.458000													15	41					0	0	0.002450	0	0
MPPED1	758	broad.mit.edu	37	22	43831060	43831060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:43831060G>A	ENST00000417669.1	+	3	775	c.331G>A	c.(331-333)Gac>Aac	p.D111N	MPPED1_ENST00000542779.1_Missense_Mutation_p.D111N|MPPED1_ENST00000414469.2_Missense_Mutation_p.D5N|MPPED1_ENST00000538182.1_Missense_Mutation_p.D144N|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.D111N			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	111							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCGTACGGCGACGTGCTGAT	0.657000													47	39					0	0	0.003610	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866041	30866041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:30866041C>T	ENST00000403066.1	-	5	305	c.22G>A	c.(22-24)Gat>Aat	p.D8N	SEC14L3_ENST00000215812.4_Missense_Mutation_p.D67N|SEC14L3_ENST00000415957.2_Missense_Mutation_p.D8N|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000539629.1_Missense_Mutation_p.D8N|SEC14L3_ENST00000401751.1_Missense_Mutation_p.D8N			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	67						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGGTCAATATCCATGGTCTTC	0.547000													35	85					0	0	0.005524	0	0
L1TD1	54596	broad.mit.edu	37	1	62675897	62675897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:62675897G>A	ENST00000498273.1	+	4	1746	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	484	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GAAGAAGAAGGAAAGAGCTCT	0.413000													14	22					0	0	0.001855	0	0
SCN7A	6332	broad.mit.edu	37	2	167322306	167322306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:167322306G>A	ENST00000409855.1	-	7	982	c.856C>T	c.(856-858)Cca>Tca	p.P286S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	286					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATATAATATGGGTTTCCAGTT	0.393000													47	63					0	0	0.003610	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152082	11152082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:11152082C>T	ENST00000358026.2	+	31	4650	c.4366C>T	c.(4366-4368)Ccg>Tcg	p.P1456S	SMARCA4_ENST00000344626.4_Missense_Mutation_p.P1424S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P1394S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P1424S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P1391S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P1391S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P1394S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P1394S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P1394S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1424					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCCTCCACCCCGACCACCAG	0.652000			"""F, N, Mis"""		NSCLC								7	23					0	0	0.003080	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	A	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		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)		CCATCATGCCAGGGGGGTATG	0.622000													4	64					0	0	0.000602	0	0
FBN3	84467	broad.mit.edu	37	19	8175759	8175759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:8175759C>T	ENST00000600128.1	-	34	4717	c.4303G>A	c.(4303-4305)Gaa>Aaa	p.E1435K	FBN3_ENST00000270509.2_Missense_Mutation_p.E1435K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1435K			Q75N90	FBN3_HUMAN	fibrillin 3	1435	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGGTCCAGTTCGTAGCCACCA	0.607000													33	75					0	0	0.004289	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44798934	44798934	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:44798934C>A	ENST00000309315.4	+	7	991	c.868C>A	c.(868-870)Cag>Aag	p.Q290K	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.Q290K|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.Q258K|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.Q258K|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.Q290K	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	290	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGCACCGCCCAGTTTGCGCC	0.642000													6	153					0.00198382	0.00713114	0.001984	1	0
OR2V2	285659	broad.mit.edu	37	5	180582804	180582804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:180582804C>T	ENST00000328275.1	+	1	862	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGCTCAACCCCCTCATTTA	0.602000													15	29					0	0	0.003163	0	0
KCNF1	3754	broad.mit.edu	37	2	11053719	11053719	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:11053719C>T	ENST00000295082.1	+	1	1657	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	389						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ACGCGGCCATCAGCTTCTTGT	0.602000													14	34					0	0	0.002450	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948460	82948460	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:82948460A>G	ENST00000274341.4	-	3	1134	c.284T>C	c.(283-285)tTt>tCt	p.F95S	HAPLN1_ENST00000514416.1_Missense_Mutation_p.F95S	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	95	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CATGGAAACAAAAACATCCAC	0.433000													29	76					0	0	0.001271	0	0
PHKA1	5255	broad.mit.edu	37	X	71870319	71870319	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:71870319C>T	ENST00000373545.3	-	13	1684		c.e13-1		PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000373539.3_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CTAAAAATCCCTAAAGAAAAA	0.393000													8	9					0	0	0.003080	0	0
FOXRED1	55572	broad.mit.edu	37	11	126146989	126146989	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:126146989C>G	ENST00000263578.5	+	10	1199	c.1125C>G	c.(1123-1125)aaC>aaG	p.N375K	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.N361K|FOXRED1_ENST00000442061.2_Missense_Mutation_p.N205K	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	375						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		ACCCGGCGAACCTGGAAGTGG	0.557000													7	32					0	0	0.003080	0	0
VAV1	7409	broad.mit.edu	37	19	6833630	6833630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:6833630G>A	ENST00000304076.2	+	17	1796	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R	VAV1_ENST00000602142.1_Missense_Mutation_p.G568R|VAV1_ENST00000599806.1_Missense_Mutation_p.G513R|VAV1_ENST00000596764.1_Missense_Mutation_p.G536R|VAV1_ENST00000539284.1_Missense_Mutation_p.G471R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	568					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGGCCGACATGGGCAAGGTAC	0.582000													35	46					0	0	0.002445	0	0
HRH1	3269	broad.mit.edu	37	3	11301941	11301941	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:11301941C>T	ENST00000397056.1	+	3	1409	c.1218C>T	c.(1216-1218)caC>caT	p.H406H	HRH1_ENST00000438284.2_Silent_p.H406H|HRH1_ENST00000431010.2_Silent_p.H406H	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	406					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTGGGTTGCACATGAACCGCG	0.478000													33	75					0	0	0.002445	0	0
CEACAM5	1048	broad.mit.edu	37	19	42218936	42218936	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:42218936G>A	ENST00000221992.6	+	3	585	c.471G>A	c.(469-471)gtG>gtA	p.V157V	CEACAM5_ENST00000398599.4_Silent_p.V157V|CEACAM5_ENST00000405816.1_Silent_p.V157V|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	157	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCAAACCCGTGGAGGACAAGG	0.562000													30	98					0	0	0.002096	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236221	140236221	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:140236221G>A	ENST00000307360.5	+	1	588	c.588G>A	c.(586-588)cgG>cgA	p.R196R	PCDHA10_ENST00000506939.2_Silent_p.R196R|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTTCTGCGGAAGCTGCTGG	0.398000													25	61					0	0	0.003954	0	0
ITIH4	3700	broad.mit.edu	37	3	52853460	52853460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:52853460G>A	ENST00000266041.4	-	17	2122	c.2026C>T	c.(2026-2028)Cct>Tct	p.P676S	ITIH4_ENST00000406595.1_Missense_Mutation_p.P646S|ITIH4_ENST00000485816.1_Missense_Mutation_p.P681S|ITIH4_ENST00000346281.5_Missense_Mutation_p.P646S|ITIH4_ENST00000434759.3_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	676					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGAACATCAGGAGGTCCTGGG	0.602000													18	51					0	0	0.000958	0	0
C2orf16	84226	broad.mit.edu	37	2	27801410	27801410	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:27801410G>A	ENST00000408964.2	+	1	2022	c.1971G>A	c.(1969-1971)gtG>gtA	p.V657V		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	657										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTACTCAAGTGAAGTCTGCAG	0.393000													8	43					0	0	0.000978	0	0
TRIM42	287015	broad.mit.edu	37	3	140407233	140407233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:140407233G>A	ENST00000286349.3	+	3	1900	c.1709G>A	c.(1708-1710)gGc>gAc	p.G570D		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	570						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCCACAGACGGCCTCTACACC	0.572000													19	56					0	0	0.001216	0	0
TBP	6908	broad.mit.edu	37	6	170871188	170871188	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr6:170871188T>C	ENST00000392092.2	+	3	643	c.364T>C	c.(364-366)Ttc>Ctc	p.F122L	TBP_ENST00000230354.6_Missense_Mutation_p.F122L|TBP_ENST00000540980.1_Missense_Mutation_p.F102L	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	122					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		ACCACAGCTCTTCCACTCACA	0.627000													17	30					0	0	0.001216	0	0
MROH1	727957	broad.mit.edu	37	8	145246704	145246704	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:145246704C>T	ENST00000528919.1	+	8	922	c.801C>T	c.(799-801)ctC>ctT	p.L267L	MROH1_ENST00000398656.4_Silent_p.L267L|MROH1_ENST00000326134.5_Silent_p.L267L|MROH1_ENST00000423230.2_Silent_p.L267L|MROH1_ENST00000534366.1_Silent_p.L267L	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		CCAAGCTCCTCCCTGGGATTC	0.612000													4	18					0	0	0.000248	0	0
OR52E8	390079	broad.mit.edu	37	11	5878415	5878415	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:5878415G>A	ENST00000537935.1	-	1	549	c.518C>T	c.(517-519)cCc>cTc	p.P173L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACAGAAGGGCAGCCTCAG	0.507000													29	62					0	0	0.001271	0	0
ZNF71	58491	broad.mit.edu	37	19	57133780	57133780	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:57133780C>T	ENST00000328070.6	+	3	1359	c.1125C>T	c.(1123-1125)atC>atT	p.I375I		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	375						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACCAGCGCATCCACACCGGCG	0.627000													5	33					0	0	0.000602	0	0
CDH1	999	broad.mit.edu	37	16	68862142	68862142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:68862142C>T	ENST00000261769.5	+	14	2421	c.2230C>T	c.(2230-2232)Cca>Tca	p.P744S	CDH1_ENST00000422392.2_Missense_Mutation_p.P683S|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	744					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTACTGCCCCCAGAGGATGA	0.522000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				39	48					0	0	0.005524	0	0
EVC2	132884	broad.mit.edu	37	4	5624386	5624386	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:5624386C>T	ENST00000310917.2	-	14	2870	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	EVC2_ENST00000344938.1_Silent_p.G793G|EVC2_ENST00000344408.5_Silent_p.G793G	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	793						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCCTCTCCTCCCCCTCCAGCT	0.662000													10	21					0	0	0.000673	0	0
ZNF790	388536	broad.mit.edu	37	19	37309763	37309763	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:37309763G>A	ENST00000356725.4	-	5	1603	c.1483C>T	c.(1483-1485)Cga>Tga	p.R495*	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCTGGTGTCGATTAAGTTCT	0.393000													19	40					0	0	0.001523	0	0
DCTN1	1639	broad.mit.edu	37	2	74593378	74593378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:74593378G>A	ENST00000361874.3	-	23	3070	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	DCTN1_ENST00000409438.1_Missense_Mutation_p.P784L|DCTN1_ENST00000409567.3_Missense_Mutation_p.P898L|DCTN1_ENST00000409240.1_Missense_Mutation_p.P881L|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Missense_Mutation_p.P784L|DCTN1_ENST00000394003.3_Missense_Mutation_p.P911L|DCTN1_ENST00000409868.1_Missense_Mutation_p.P901L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	918					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TACCTTGCTGGGGGGCCGCTC	0.562000													29	72					0	0	0.001786	0	0
MAP4K2	5871	broad.mit.edu	37	11	64567664	64567664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:64567664G>A	ENST00000294066.2	-	12	923	c.832C>T	c.(832-834)Cct>Tct	p.P278S	MAP4K2_ENST00000377350.3_Missense_Mutation_p.P278S	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	278					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGGCCCGAGGGAGCTGCTGA	0.647000													7	23					0	0	0.001984	0	0
CYP3A4	1576	broad.mit.edu	37	7	99365994	99365994	+	Missense_Mutation	SNP	G	G	A	rs55901263		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:99365994G>A	ENST00000354593.2	-	2	306	c.203C>T	c.(202-204)cCa>cTa	p.P68L	CYP3A4_ENST00000336411.2_Missense_Mutation_p.P218L			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	218					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGAAAGAATGGATCCAAAAA	0.333000													12	60					0	0	0.001855	0	0
IL9R	3581	broad.mit.edu	37	X	155233493	155233493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:155233493G>A	ENST00000540897.1	+	5	578	c.510G>A	c.(508-510)tgG>tgA	p.W170*	IL9R_ENST00000424344.3_Missense_Mutation_p.D115N|IL9R_ENST00000244174.5_Missense_Mutation_p.D136N|IL9R_ENST00000369423.2_Nonsense_Mutation_p.W180*	NM_176786.1	NP_789743.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	134	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGCCTGGTGGACCCGGAGTA	0.622000													15	26					0	0	0.006122	0	0
OBSCN	84033	broad.mit.edu	37	1	228451887	228451887	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:228451887C>T	ENST00000570156.2	+	18	5282	c.5208C>T	c.(5206-5208)gcC>gcT	p.A1736A	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.A1552A|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.A208A|OBSCN_ENST00000422127.1_Silent_p.A1552A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	724	Fibronectin type-III 2.				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)				GGACCAGTGCCACGCTGAGCT	0.647000													11	69					0	0	0.000978	0	0
RYR2	6262	broad.mit.edu	37	1	237433839	237433839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:237433839G>A	ENST00000366574.2	+	2	408	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RYR2_ENST00000360064.6_Silent_p.K28K|RYR2_ENST00000542537.1_Missense_Mutation_p.E15K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	31					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)			CATCCACAAAGAACAACAGAA	0.473000													10	6					0	0	0.000673	0	0
SLC9A3	6550	broad.mit.edu	37	5	476469	476469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:476469C>T	ENST00000264938.3	-	13	1924	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E630K|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	639	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCGTGAGCTCGTGTCGGCTG	0.622000													16	56					0	0	0.006122	0	0
VEGFC	7424	broad.mit.edu	37	4	177649045	177649045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:177649045C>T	ENST00000280193.2	-	3	854	c.439G>A	c.(439-441)Gcg>Acg	p.A147T	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	147					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GTGTTTGTCGCGACTCCAAAC	0.493000													15	48					0	0	0.002450	0	0
CDHR4	389118	broad.mit.edu	37	3	49836714	49836714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:49836714C>T	ENST00000412678.2	-	2	214	c.206G>A	c.(205-207)aGc>aAc	p.S69N	CDHR4_ENST00000487256.1_Missense_Mutation_p.S69N|CDHR4_ENST00000343366.4_Missense_Mutation_p.S69N	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	69					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CCTGGCCAAGCTGGGTGGGTT	0.567000													9	18					0	0	0.000673	0	0
HOXA3	3200	broad.mit.edu	37	7	27148070	27148070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:27148070G>A	ENST00000396352.4	-	3	995	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.R266C	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	266					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						ACGGGGCTGCGACTTGGAGAC	0.602000													80	63					0	0	0.003610	0	0
IGLV4-69	28784	broad.mit.edu	37	22	22385701	22385701	+	RNA	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:22385701C>T	ENST00000390282.2	+	0	250				PRAMEF24P_ENST00000337471.4_RNA																							AGAGAAGGGCCCTCGGTACTT	0.617000													15	32					0	0	0.004007	0	0
PSG9	5678	broad.mit.edu	37	19	43762387	43762387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:43762387C>T	ENST00000244293.7	-	4	997	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PSG9_ENST00000593948.1_Missense_Mutation_p.E311K|PSG9_ENST00000443718.3_Missense_Mutation_p.E311K|PSG9_ENST00000596730.1_Missense_Mutation_p.E218K|PSG9_ENST00000418820.2_Missense_Mutation_p.E311K|PSG9_ENST00000291752.5_Missense_Mutation_p.E218K|PSG9_ENST00000270077.3_Missense_Mutation_p.E404K			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	404	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTGGAGATTTCCTTGCCAGTG	0.448000													60	139					0	0	0.003610	0	0
CLN3	1201	broad.mit.edu	37	16	28502851	28502851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:28502851G>A	ENST00000569430.1	-	4	896	c.77C>T	c.(76-78)cCt>cTt	p.P26L	CLN3_ENST00000568224.1_Intron|CLN3_ENST00000355477.5_Missense_Mutation_p.P26L|CLN3_ENST00000357076.5_Missense_Mutation_p.P26L|CLN3_ENST00000567963.1_Missense_Mutation_p.P26L|CLN3_ENST00000359984.7_Missense_Mutation_p.P26L|CLN3_ENST00000360019.2_Missense_Mutation_p.P26L|CLN3_ENST00000395653.4_Intron|CLN3_ENST00000535392.1_Intron|CLN3_ENST00000357806.7_Missense_Mutation_p.P26L|CLN3_ENST00000357857.9_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.P26L|CLN3_ENST00000354630.5_Missense_Mutation_p.P26L|CLN3_ENST00000333496.9_Missense_Mutation_p.P26L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	26					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GTCCAACAGAGGGAGCCGGGG	0.632000											OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	1					0	0	0.003330	0	0
SLC16A3	9123	broad.mit.edu	37	17	80194103	80194103	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:80194103G>A	ENST00000581287.1	+	1	2541	c.219G>A	c.(217-219)ggG>ggA	p.G73G	SLC16A3_ENST00000392341.1_Silent_p.G73G|SLC16A3_ENST00000392339.1_Silent_p.G73G|SLC16A3_ENST00000582743.1_Silent_p.G73G|SLC16A3_ENST00000584781.1_3'UTR	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	73					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGCTCTACGGGACAGGTGAGG	0.642000													7	50					0	0	0.001984	0	0
EP300	2033	broad.mit.edu	37	22	41537070	41537070	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:41537070C>T	ENST00000263253.7	+	10	3116	c.1897C>T	c.(1897-1899)Cta>Tta	p.L633L		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	633	KIX.				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						CTACCACCTTCTAGCTGAGAA	0.388000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				27	28					0	0	0.004656	0	0
PKD2L1	9033	broad.mit.edu	37	10	102057345	102057345	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:102057345C>T	ENST00000318222.3	-	5	1132	c.750G>A	c.(748-750)caG>caA	p.Q250Q	PKD2L1_ENST00000353274.3_Silent_p.Q250Q|PKD2L1_ENST00000338519.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	250					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCAACTCATCCTGCGAGTGGT	0.562000													5	11					0	0	0.000602	0	0
ETV6	2120	broad.mit.edu	37	12	12037444	12037444	+	Nonsense_Mutation	SNP	C	C	T	rs141938078	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:12037444C>T	ENST00000396373.4	+	6	1349	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	359						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAACTTCATCCGATGGGAGGA	0.463000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								60	71					0	0	0.003610	0	0
EFCAB13	124989	broad.mit.edu	37	17	45487019	45487019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:45487019G>A	ENST00000331493.2	+	21	2651	c.2240G>A	c.(2239-2241)aGg>aAg	p.R747K	EFCAB13_ENST00000517484.1_Missense_Mutation_p.R651K|CTD-2026D20.2_ENST00000523101.1_RNA	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		GCAGATTTCAGGAAAGAGGCT	0.308000													52	263					0	0	0.003610	0	0
DHX8	1659	broad.mit.edu	37	17	41599484	41599484	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:41599484C>T	ENST00000262415.3	+	22	3405	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	DHX8_ENST00000540306.1_Silent_p.F1111F	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1111						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.F1111L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCAGTGGGTTCTTCCGTAATG	0.517000													27	54					0	0	0.004656	0	0
ACAP3	116983	broad.mit.edu	37	1	1230920	1230920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:1230920G>A	ENST00000354700.5	-	19	1922	c.1720C>T	c.(1720-1722)Cgt>Tgt	p.R574C	ACAP3_ENST00000353662.3_Missense_Mutation_p.R532C	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	574					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGGAACTTACGATCCAGGGTG	0.667000													5	21					0	0	0.000602	0	0
ANKRD36	375248	broad.mit.edu	37	2	97784202	97784202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:97784202C>T	ENST00000420699.2	+	3	678	c.434C>T	c.(433-435)tCc>tTc	p.S145F	ANKRD36_ENST00000461153.2_Missense_Mutation_p.S145F	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	145										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAAGATACATCCATGATAGAA	0.368000													20	36					0	0	0.004656	0	0
ALS2CL	259173	broad.mit.edu	37	3	46723548	46723548	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:46723548C>T	ENST00000318962.4	-	11	1229	c.1146G>A	c.(1144-1146)gtG>gtA	p.V382V	ALS2CL_ENST00000415953.1_Silent_p.V382V	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	382					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGAAATTCCCCACGTGATTCC	0.627000													7	20					0	0	0.001984	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097693	43097693	+	Splice_Site	SNP	G	G	A	rs146875157	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:43097693G>A	ENST00000244336.5	-	2	525	c.424_splice	c.e2+1	p.P142_splice	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	142	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane		p.P142T(1)|p.P142S(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AATCACTCACGATGTACGCTG	0.498000													18	59					0	0	0.001216	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870436	51870436	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr20:51870436C>T	ENST00000371497.5	+	2	1326	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	TSHZ2_ENST00000603338.2_Silent_p.L144L|TSHZ2_ENST00000329613.6_Silent_p.L144L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	147					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGGCTTCAAGCTGTCCAATAG	0.512000													26	66					0	0	0.005443	0	0
HOXB3	3213	broad.mit.edu	37	17	46627847	46627847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:46627847C>T	ENST00000470495.1	-	2	2592	c.1145G>A	c.(1144-1146)gGg>gAg	p.G382E	HOXB3_ENST00000311626.4_Missense_Mutation_p.G382E|HOXB3_ENST00000490677.1_Missense_Mutation_p.G248E|HOXB3_ENST00000489475.1_Missense_Mutation_p.G309E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G250E|HOXB3_ENST00000498678.1_Missense_Mutation_p.G382E|HOXB3_ENST00000476342.1_Missense_Mutation_p.G382E|HOXB3_ENST00000472863.1_Missense_Mutation_p.G309E|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G250E|HOXB-AS1_ENST00000502764.2_RNA			P14651	HXB3_HUMAN	homeobox B3	382					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GTCCAGGTTCCCGGAAGGGTG	0.697000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	57					0	0	0.002222	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336577	35336577	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:35336577T>G	ENST00000278379.3	-	3	585	c.303A>C	c.(301-303)ttA>ttC	p.L101F	SLC1A2_ENST00000606205.1_Missense_Mutation_p.L101F|SLC1A2_ENST00000395753.1_Missense_Mutation_p.L92F|SLC1A2_ENST00000395750.1_Missense_Mutation_p.L92F	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	101					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TACCTGTGATTAAGCTGGAGA	0.438000													27	66					0	0	0.001271	0	0
MYL1	4632	broad.mit.edu	37	2	211159076	211159076	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:211159076T>C	ENST00000352451.3	-	4	518	c.371A>G	c.(370-372)aAg>aGg	p.K124R	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.K80R	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	124					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGCCTGGTCCTTGTTGTTGGA	0.448000													15	49					0	0	0.003163	0	0
SLC8B1	80024	broad.mit.edu	37	12	113770601	113770601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:113770601C>T	ENST00000552014.1	-	3	598	c.83G>A	c.(82-84)aGg>aAg	p.R28K	SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Missense_Mutation_p.R28K|SLC24A6_ENST00000546737.1_Missense_Mutation_p.R28K			Q6J4K2	NCKX6_HUMAN		28					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						AGACGAGCCCCTAGTCCCAGA	0.607000													16	38					0	0	0.004990	0	0
SAMD9	54809	broad.mit.edu	37	7	92733979	92733979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:92733979C>A	ENST00000379958.2	-	3	1701	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	478						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAATCGTCTCATTTGGTGTG	0.393000													5	86					0.00116845	0.00420953	0.001168	1	0
ACSS3	79611	broad.mit.edu	37	12	81545624	81545624	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:81545624G>A	ENST00000548058.1	+	6	1833	c.921_splice	c.e6-1	p.G308_splice	ACSS3_ENST00000548324.1_5'UTR|ACSS3_ENST00000261206.3_Splice_Site_p.G307_splice			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	308						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCTCCTTAGGGTGTGATTAGG	0.383000													28	35					0	0	0.001512	0	0
ZNF460	10794	broad.mit.edu	37	19	57803142	57803142	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:57803142C>T	ENST00000360338.3	+	3	1555	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	ZNF460_ENST00000537645.1_Silent_p.F370F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCGACACTTCAACATCCACA	0.478000													18	40					0	0	0.000958	0	0
DOCK2	1794	broad.mit.edu	37	5	169141086	169141086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:169141086C>T	ENST00000256935.8	+	18	1794	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R64*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	572	DHR-1.				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)			TCCTTCTTATCGACACCATGT	0.572000													15	50					0	0	0.000958	0	0
PCDH12	51294	broad.mit.edu	37	5	141335520	141335520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:141335520C>T	ENST00000231484.3	-	1	3107	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	633	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGGGGCTCTCCATTTGCC	0.577000													14	33					0	0	0.001855	0	0
NAV2	89797	broad.mit.edu	37	11	20127234	20127234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:20127234C>T	ENST00000396085.1	+	36	7172	c.6811C>T	c.(6811-6813)Cgc>Tgc	p.R2271C	NAV2_ENST00000349880.4_Missense_Mutation_p.R2268C|NAV2_ENST00000533917.1_Missense_Mutation_p.R1332C|NAV2_ENST00000396087.3_Missense_Mutation_p.R2327C|NAV2_ENST00000527559.2_Missense_Mutation_p.R2256C|NAV2_ENST00000360655.4_Missense_Mutation_p.R2204C|NAV2_ENST00000311043.8_Missense_Mutation_p.R1332C|NAV2_ENST00000540292.1_Missense_Mutation_p.R2258C	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2327						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCACCTCAACCGCTTCCTGGA	0.597000													15	43					0	0	0.004990	0	0
SPPL2A	84888	broad.mit.edu	37	15	51040396	51040396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:51040396G>A	ENST00000261854.5	-	4	638	c.364C>T	c.(364-366)Cct>Tct	p.P122S	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	122	PA.					integral to membrane	aspartic-type endopeptidase activity	p.P122A(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CCTGAGGGAGGAAACTAAAAA	0.249000													3	8					0	0	0.004672	0	0
TMEM8C	389827	broad.mit.edu	37	9	136389886	136389886	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:136389886C>T	ENST00000339996.3	-	1	182	c.81G>A	c.(79-81)aaG>aaA	p.K27K	TMEM8C_ENST00000413714.1_Intron	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	27						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGAACCGCCTCTTGGCCGCGA	0.652000													15	47					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179611999	179611999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:179611999G>A	ENST00000360870.5	-	46	15350	c.15128C>T	c.(15127-15129)tCc>tTc	p.S5043F	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1147	Ig-like 31.						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)			CTCACCTTCGGAAGGTGTTGA	0.458000													28	41					0	0	0.005443	0	0
ADAM2	2515	broad.mit.edu	37	8	39626988	39626988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:39626988G>A	ENST00000265708.4	-	12	1238	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	ADAM2_ENST00000379853.2_Missense_Mutation_p.P253S|ADAM2_ENST00000347580.4_Missense_Mutation_p.P360S|ADAM2_ENST00000521880.1_Missense_Mutation_p.P379S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	379					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTGAAAAAAGGATCTAAGCGA	0.443000													16	39					0	0	0.004007	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092834	147092834	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:147092834C>T	ENST00000361727.3	+	10	2148	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	544	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.F544L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGGAAGTTTCGCGAATGTCA	0.438000										HNSCC(39;0.1)			35	115					0	0	0.004289	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536233	31536233	+	Silent	SNP	G	G	A	rs2232175	byFrequency	TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr22:31536233G>A	ENST00000215885.3	-	1	360	c.108C>T	c.(106-108)gcC>gcT	p.A36A		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	36					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGCCAGGGACGGCCTTGGTCA	0.662000													26	35					0	0	0.003954	0	0
TRIML2	205860	broad.mit.edu	37	4	189013006	189013006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:189013006C>T	ENST00000512729.1	-	7	1059	c.685G>A	c.(685-687)Gat>Aat	p.D229N	TRIML2_ENST00000326754.3_Missense_Mutation_p.D254N	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	229	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCAGCCCCATCCTGCTGCCCA	0.527000													24	66					0	0	0.003330	0	0
SH3D19	152503	broad.mit.edu	37	4	152049406	152049406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:152049406C>T	ENST00000409598.4	-	18	3172	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	SH3D19_ENST00000409252.2_Missense_Mutation_p.E692K|SH3D19_ENST00000427414.2_Missense_Mutation_p.E633K|SH3D19_ENST00000424281.1_Missense_Mutation_p.E633K|SH3D19_ENST00000455740.1_Missense_Mutation_p.E669K|SH3D19_ENST00000514152.1_Missense_Mutation_p.E669K|SH3D19_ENST00000304527.4_Missense_Mutation_p.E692K			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	692	SH3 4.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCCAGACGTTCCAGAATCTGG	0.532000													17	50					0	0	0.004990	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999128	46999128	+	Missense_Mutation	SNP	G	G	A	rs149580948		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:46999128G>A	ENST00000374314.4	+	1	1203	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	GPRIN2_ENST00000374317.1_Missense_Mutation_p.R83Q			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	83								p.R83P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCAAGGCGCGACCCAGTGCT	0.697000													6	35					0	0	0.001984	0	0
UNC13C	440279	broad.mit.edu	37	15	54625970	54625970	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:54625970C>T	ENST00000545554.1	+	15	4500	c.4500C>T	c.(4498-4500)aaC>aaT	p.N1500N	UNC13C_ENST00000537900.1_Silent_p.N1498N|UNC13C_ENST00000260323.11_Silent_p.N1500N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1500					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCAGGAAAACTTTCCTGCAA	0.338000													4	17					0	0	0.000248	0	0
GH1	2688	broad.mit.edu	37	17	61995424	61995424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:61995424C>T	ENST00000323322.5	-	3	286	c.244G>A	c.(244-246)Gag>Aag	p.E82K	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.E67K|GH1_ENST00000342364.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	82					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGAATAGACTCTGAGAAACAG	0.542000													56	159					0	0	0.003610	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870331	129870331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:129870331G>A	ENST00000373425.3	-	2	1297	c.680C>T	c.(679-681)cCa>cTa	p.P227L	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	227					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GTAGGTGGGTGGTTGGTAGAC	0.642000													21	30					0	0	0.001882	0	0
CORO1C	23603	broad.mit.edu	37	12	109052620	109052620	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:109052620T>A	ENST00000261401.3	-	5	696	c.524A>T	c.(523-525)gAc>gTc	p.D175V	CORO1C_ENST00000549772.1_Missense_Mutation_p.D181V|CORO1C_ENST00000421578.2_Missense_Mutation_p.D70V|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000420959.2_Missense_Mutation_p.D228V|CORO1C_ENST00000541050.1_Missense_Mutation_p.D175V	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	175					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GTAAATCATGTCTGAATGCAT	0.433000													45	53					0	0	0.002222	0	0
LPAR1	1902	broad.mit.edu	37	9	113704020	113704020	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:113704020C>T	ENST00000374431.3	-	4	857	c.474G>A	c.(472-474)cgG>cgA	p.R158R	LPAR1_ENST00000374430.2_Silent_p.R158R|LPAR1_ENST00000358883.4_Silent_p.R158R|LPAR1_ENST00000541779.1_Silent_p.R159R|LPAR1_ENST00000538760.1_Silent_p.R159R	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	158					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GGTTGCTCATCCGTGTGTGGA	0.537000													11	46					0	0	0.000978	0	0
LILRB4	11006	broad.mit.edu	37	19	55175661	55175661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:55175661C>T	ENST00000391736.1	+	6	695	c.380C>T	c.(379-381)tCa>tTa	p.S127L	LILRB4_ENST00000270452.2_Missense_Mutation_p.S127L|LILRB4_ENST00000391733.3_Missense_Mutation_p.S127L|LILRB4_ENST00000430952.2_Missense_Mutation_p.S127L|LILRB4_ENST00000391734.3_Missense_Mutation_p.S127L	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	127	Ig-like C2-type 2.					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)		CCCACCCTTTCAGCCCTGCCG	0.582000													21	75					0	0	0.001523	0	0
NLRP13	126204	broad.mit.edu	37	19	56423098	56423098	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:56423098G>A	ENST00000588751.1	-	5	2109	c.2085C>T	c.(2083-2085)atC>atT	p.I695I	NLRP13_ENST00000342929.3_Silent_p.I695I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	695							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCCTTTCAAGGATGTGACTGC	0.383000													23	80					0	0	0.001061	0	0
DPP6	1804	broad.mit.edu	37	7	154143391	154143391	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:154143391C>T	ENST00000404039.1	+	2	731	c.144C>T	c.(142-144)acC>acT	p.T48T	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Silent_p.T50T|DPP6_ENST00000406326.1_Silent_p.T112T|DPP6_ENST00000332007.3_Silent_p.T50T|DPP6_ENST00000377770.3_Silent_p.T112T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	112					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGATCGTCACCTCGGTCATAC	0.438000													14	89					0	0	0.003163	0	0
TEX11	56159	broad.mit.edu	37	X	70093151	70093151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:70093151C>T	ENST00000395889.2	-	5	366	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	TEX11_ENST00000374333.2_Missense_Mutation_p.E56K|TEX11_ENST00000344304.3_Missense_Mutation_p.E71K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	71							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ACTGCCATTTCTTCAATCTGG	0.358000													13	15					0	0	0.002450	0	0
CR1	1378	broad.mit.edu	37	1	207803933	207803933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:207803933C>T	ENST00000367049.4	+	46	7424	c.7424C>T	c.(7423-7425)cCc>cTc	p.P2475L	CR1_ENST00000367051.1_Missense_Mutation_p.P2025L|CR1_ENST00000367052.1_Missense_Mutation_p.P2025L|CR1_ENST00000400960.2_Missense_Mutation_p.P2025L|CR1_ENST00000367053.1_Missense_Mutation_p.P2025L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	2025					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCGTTCATCCCCGAACTCTG	0.353000													16	12					0	0	0.004990	0	0
CD22	933	broad.mit.edu	37	19	35827096	35827096	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:35827096G>A	ENST00000085219.5	+	4	636	c.570G>A	c.(568-570)tcG>tcA	p.S190S	CD22_ENST00000419549.2_Silent_p.S18S|CD22_ENST00000594250.1_Silent_p.S190S|CD22_ENST00000544992.2_Silent_p.S190S|CD22_ENST00000341773.6_Silent_p.S190S|CD22_ENST00000270311.6_Silent_p.S70S|CD22_ENST00000536635.2_Silent_p.S190S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	190	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTGTCACCTCGACCTCCTTGA	0.547000													24	46					0	0	0.002299	0	0
CCDC9	26093	broad.mit.edu	37	19	47763860	47763860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:47763860C>T	ENST00000221922.6	+	5	448	c.226C>T	c.(226-228)Cct>Tct	p.P76S		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	76										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAACCTGGGTCCTTCCCGGAG	0.687000													23	49					0	0	0.003954	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29848290	29848290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:29848290G>A	ENST00000325874.8	+	5	899	c.670G>A	c.(670-672)Gat>Aat	p.D224N	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.D122N	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	224	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGAGGGTGACGATGTGGACTG	0.587000													25	63					0	0	0.003330	0	0
ZNF507	22847	broad.mit.edu	37	19	32845425	32845425	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:32845425C>T	ENST00000311921.3	+	2	1881	c.1689C>T	c.(1687-1689)acC>acT	p.T563T	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Silent_p.T563T|ZNF507_ENST00000544431.1_Silent_p.T563T	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GCAACTCCACCTTGGTAGCAC	0.433000													21	41					0	0	0.002780	0	0
SLC35E3	55508	broad.mit.edu	37	12	69158494	69158494	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:69158494T>C	ENST00000398004.2	+	5	1038	c.766T>C	c.(766-768)Ttc>Ctc	p.F256L	SLC35E3_ENST00000538043.1_Intron	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	256						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			CTATAACATGTTCGGACACTT	0.348000													35	39					0	0	0.001706	0	0
DOCK6	57572	broad.mit.edu	37	19	11326522	11326522	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:11326522G>A	ENST00000294618.7	-	31	3987	c.3976C>T	c.(3976-3978)Ctg>Ttg	p.L1326L	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Silent_p.L665L	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1326					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATGGTACCCAGAATGGCTTCC	0.542000													31	61					0	0	0.002096	0	0
ATM	472	broad.mit.edu	37	11	108205756	108205756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:108205756C>T	ENST00000278616.4	+	55	8456	c.8071C>T	c.(8071-8073)Cgc>Tgc	p.R2691C	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.R2691C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2691					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGCAGAATTTCGCTTAGCAGG	0.393000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			10	35					0	0	0.000978	0	0
GPR152	390212	broad.mit.edu	37	11	67219374	67219374	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:67219374C>T	ENST00000312457.2	-	1	826	c.822G>A	c.(820-822)tgG>tgA	p.W274*		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	274						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCAGGGCCTCCCAGAGCAGGT	0.627000													11	30					0	0	0.000978	0	0
APLNR	187	broad.mit.edu	37	11	57003831	57003831	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:57003831G>A	ENST00000606794.1	-	1	844	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	216						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGGTCAGCATGATGGTGAAGG	0.622000													17	42					0	0	0.000958	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147374	26147374	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr16:26147374G>A	ENST00000331351.5	+	2	1568	c.1176G>A	c.(1174-1176)aaG>aaA	p.K392K	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	392					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ACAAAACCAAGGGGTTCCCTT	0.512000													15	15					0	0	0.002450	0	0
ABCA13	154664	broad.mit.edu	37	7	48278969	48278969	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr7:48278969C>T	ENST00000435803.1	+	9	1053	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	343					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTATCTTGTCCATGCAGTCA	0.502000													10	53					0	0	0.000443	0	0
KYNU	8942	broad.mit.edu	37	2	143643031	143643031	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:143643031A>C	ENST00000264170.4	+	2	353	c.95A>C	c.(94-96)cAc>cCc	p.H32P	KYNU_ENST00000410015.2_Missense_Mutation_p.H32P|KYNU_ENST00000409512.1_Missense_Mutation_p.H32P|KYNU_ENST00000375773.2_Missense_Mutation_p.H32P	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	32					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GTGGCTCTCCACCTAGATGAG	0.498000													12	37					0	0	0.000978	0	0
ZNF536	9745	broad.mit.edu	37	19	31039424	31039424	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:31039424G>A	ENST00000355537.3	+	4	3045	c.2898G>A	c.(2896-2898)agG>agA	p.R966R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	966					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)					CCTCCCAGAGGAAGTCCGAGA	0.577000													21	91					0	0	0.002299	0	0
TLE4	7091	broad.mit.edu	37	9	82267687	82267687	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:82267687C>T	ENST00000376520.4	+	7	1398	c.570C>T	c.(568-570)caC>caT	p.H190H	TLE4_ENST00000376537.4_Silent_p.H190H|TLE4_ENST00000376544.3_Silent_p.H190H|TLE4_ENST00000376552.2_Silent_p.H190H|TLE4_ENST00000265284.6_Silent_p.H165H|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376534.4_5'UTR			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGAAGAAGCACCATGACAATG	0.498000													12	74					0	0	0.001855	0	0
GPC4	2239	broad.mit.edu	37	X	132458250	132458250	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:132458250T>A	ENST00000370828.3	-	3	1158	c.634A>T	c.(634-636)Act>Tct	p.T212S	GPC4_ENST00000535467.1_Missense_Mutation_p.T142S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	212					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					AAAGCACGAGTAACCTGGAGC	0.512000													31	15					0	0	0.001271	0	0
PDE3A	5139	broad.mit.edu	37	12	20799828	20799828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:20799828G>A	ENST00000359062.3	+	12	2549	c.2509G>A	c.(2509-2511)Gat>Aat	p.D837N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	837	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGCCATGCACGATTATGATCA	0.418000													28	125					0	0	0.001271	0	0
MYOM2	9172	broad.mit.edu	37	8	2057229	2057229	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:2057229G>A	ENST00000262113.4	+	25	3228	c.3087G>A	c.(3085-3087)aaG>aaA	p.K1029K	MYOM2_ENST00000523438.1_Silent_p.K454K	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1029					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTTTTGATAAGGGGCGGGTTC	0.433000													9	34					0	0	0.000673	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459884	122459884	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:122459884G>T	ENST00000306103.2	-	7	1045	c.902C>A	c.(901-903)cCa>cAa	p.P301Q	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	301						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GGTATTTTGTGGATTCTCTGC	0.478000													24	72					5.61819e-17	2.05153e-16	0.005443	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73021239	73021239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:73021239C>T	ENST00000263674.3	+	1	1906	c.1556C>T	c.(1555-1557)cCc>cTc	p.P519L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	519					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAACTTGAACCCATACCCATC	0.612000													18	30					0	0	0.004990	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223241	140223241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:140223241G>A	ENST00000531613.1	+	1	2335	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	PCDHA8_ENST00000378123.3_Missense_Mutation_p.D779N|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCCTCCTGATCTGGGATC	0.493000													14	39					0	0	0.001855	0	0
TKT	7086	broad.mit.edu	37	3	53265528	53265528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:53265528G>A	ENST00000462138.1	-	7	875	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	TKT_ENST00000296289.6_Missense_Mutation_p.P216S|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.P271S|TKT_ENST00000423525.2_Missense_Mutation_p.P263S			P29401	TKT_HUMAN	transketolase	263					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	ATGTTTTTGGGGAGGGGCTTC	0.557000													16	33					0	0	0.001216	0	0
CSMD3	114788	broad.mit.edu	37	8	113318268	113318268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:113318268C>T	ENST00000297405.5	-	51	8283	c.8039G>A	c.(8038-8040)tGg>tAg	p.W2680*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W2576*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W2610*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W2640*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2680	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGATTGCTCCATGTTCCATC	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	61					0	0	0.001512	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36103870	36103870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr14:36103870G>A	ENST00000258840.6	-	33	4918	c.4528C>T	c.(4528-4530)Cct>Tct	p.P1510S	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1463S|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1463S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1476S			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1463	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCATAAAAGGATCATAATCT	0.418000													12	25					0	0	0.001368	0	0
STAP1	26228	broad.mit.edu	37	4	68459033	68459033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:68459033G>A	ENST00000265404.2	+	8	867	c.785G>A	c.(784-786)gGa>gAa	p.G262E	STAP1_ENST00000396225.1_Missense_Mutation_p.G262E	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	262	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GAGACTCGAGGAAATTTAAGA	0.343000													14	78					0	0	0.004990	0	0
BAG4	9530	broad.mit.edu	37	8	38065064	38065064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr8:38065064C>T	ENST00000287322.4	+	3	684	c.413C>T	c.(412-414)cCa>cTa	p.P138L	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.P102L	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	138					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GCGTATGGTCCAACATACCCC	0.423000													15	27					0	0	0.004007	0	0
SSFA2	6744	broad.mit.edu	37	2	182787025	182787025	+	Silent	SNP	T	T	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:182787025T>A	ENST00000431877.2	+	16	3740	c.3561T>A	c.(3559-3561)gtT>gtA	p.V1187V	SSFA2_ENST00000320370.7_Silent_p.V1187V|SSFA2_ENST00000409001.1_Silent_p.V1165V|SSFA2_ENST00000428267.2_Silent_p.V1012V|SSFA2_ENST00000409136.1_Silent_p.V696V|SSFA2_ENST00000467172.2_3'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1187						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCCCAGAAGTTGTAGGACCTA	0.483000													21	72					0	0	0.002299	0	0
SPATA6L	55064	broad.mit.edu	37	9	4625355	4625355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:4625355C>T	ENST00000454239.2	-	7	886	c.641G>A	c.(640-642)gGa>gAa	p.G214E	SPATA6L_ENST00000381890.5_Missense_Mutation_p.G228E|SPATA6L_ENST00000381895.5_Missense_Mutation_p.G91E|SPATA6L_ENST00000475086.1_Missense_Mutation_p.G156E			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	156																	AGGCTTGCTTCCTCCAGAGAT	0.448000													20	22					0	0	0.001523	0	0
ABCC5	10057	broad.mit.edu	37	3	183669325	183669325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:183669325C>T	ENST00000334444.6	-	20	3088	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	ABCC5_ENST00000265586.6_Missense_Mutation_p.E950K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	950	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGGAAAAGCTCGTCATGCAGC	0.557000													25	58					0	0	0.001271	0	0
HBD	3045	broad.mit.edu	37	11	5255382	5255382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:5255382G>A	ENST00000380299.3	-	2	368	c.154C>T	c.(154-156)Cct>Tct	p.P52S	HBD_ENST00000292901.3_Missense_Mutation_p.P52S	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	52			P -> R (in Adria; dbSNP:rs34489183).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCATCAGGAGAGGACAGA	0.537000													25	75					0	0	0.003330	0	0
BRSK2	9024	broad.mit.edu	37	11	1471065	1471065	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:1471065G>A	ENST00000308219.9	+	13	1672	c.1287_splice	c.e13+1	p.R429_splice	BRSK2_ENST00000526678.1_Splice_Site_p.R451_splice|BRSK2_ENST00000528841.1_Splice_Site_p.R429_splice|BRSK2_ENST00000531197.1_Splice_Site_p.R429_splice|BRSK2_ENST00000382179.1_Splice_Site_p.R475_splice|BRSK2_ENST00000528710.1_Splice_Site_p.R369_splice|BRSK2_ENST00000308230.5_Splice_Site_p.R451_splice|BRSK2_ENST00000544817.1_Splice_Site_p.R124_splice	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	429	Pro-rich.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGCAGCCCCCGGGTGAGTGAC	0.701000													11	40					0	0	0.000673	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889835	23889835	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:23889835G>C	ENST00000532292.1	-	1	1340	c.1246C>G	c.(1246-1248)Ccc>Gcc	p.P416A		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TCATCCAAGGGAGACAAGGGC	0.572000													17	23					0	0	0.006122	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382667	80382667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr5:80382667G>A	ENST00000265080.4	+	9	1352	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	429	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.E429*(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AATGCACGATGAAGTCAGCGA	0.468000													6	28					0	0	0.001168	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273457	139273457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:139273457G>A	ENST00000298532.2	-	21	3190	c.2822C>T	c.(2821-2823)cCa>cTa	p.P941L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	941	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		ACCCGGGGCTGGGCGGCCGTG	0.701000													9	32					0	0	0.000673	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012660	153012660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:153012660G>A	ENST00000368757.1	-	2	443	c.163C>T	c.(163-165)Cct>Tct	p.P55S	SPRR2D_ENST00000360379.3_Missense_Mutation_p.P55S|SPRR2D_ENST00000368756.1_Missense_Mutation_p.P55S|SPRR2D_ENST00000368758.3_Missense_Mutation_p.P55S			P22532	SPR2D_HUMAN	small proline-rich protein 2D	55					keratinization	cornified envelope|cytoplasm		p.P55S(1)		endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGATATTTCTGC	0.557000													130	197					0	0	0.003610	0	0
COL6A6	131873	broad.mit.edu	37	3	130380960	130380960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr3:130380960G>A	ENST00000358511.6	+	34	6341	c.6310G>A	c.(6310-6312)Gaa>Aaa	p.E2104K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E2104K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2104	Nonhelical region.|VWFA 9.				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						CTTAAAGAAGGAATCCTTGCG	0.433000													10	50					0	0	0.000673	0	0
SELPLG	6404	broad.mit.edu	37	12	109016855	109016855	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:109016855A>G	ENST00000388962.3	-	3	1358	c.1199T>C	c.(1198-1200)tTc>tCc	p.F400S	SELPLG_ENST00000550948.1_Missense_Mutation_p.F410S|SELPLG_ENST00000228463.6_Missense_Mutation_p.F426S	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	410					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CTAAGGGAGGAAGCTGTGCAG	0.652000													5	13					0	0	0.001168	0	0
CLPB	81570	broad.mit.edu	37	11	72005078	72005078	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:72005078G>A	ENST00000294053.3	-	16	2036	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	CLPB_ENST00000538021.1_Silent_p.S229S|CLPB_ENST00000437826.2_Silent_p.S576S|CLPB_ENST00000340729.5_Silent_p.S562S|CLPB_ENST00000538039.1_Silent_p.S591S|CLPB_ENST00000543042.1_Silent_p.S420S	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	621					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CATGTTTGATGGAGCGGGCGC	0.622000													86	242					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9062966	9062966	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:9062966G>A	ENST00000397910.4	-	3	24683	c.24480C>T	c.(24478-24480)tcC>tcT	p.S8160S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8162	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						TTCTGCTAGAGGAGGTGACTT	0.542000													16	60					0	0	0.003163	0	0
OR8K1	390157	broad.mit.edu	37	11	56113754	56113754	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:56113754C>T	ENST00000279783.2	+	1	334	c.240C>T	c.(238-240)tcC>tcT	p.S80S		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTGGTTACTCCACTGTCATTG	0.408000										HNSCC(65;0.19)			17	89					0	0	0.006122	0	0
GNAL	2774	broad.mit.edu	37	18	11867202	11867202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr18:11867202G>A	ENST00000334049.6	+	8	1495	c.887G>A	c.(886-888)aGa>aAa	p.R296K	GNAL_ENST00000269162.5_Missense_Mutation_p.R219K|GNAL_ENST00000602628.1_Missense_Mutation_p.R12K|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000535121.1_Missense_Mutation_p.R219K|GNAL_ENST00000423027.3_Missense_Mutation_p.R219K	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	219					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GATGAGAGGAGAAAATGGATC	0.438000													9	40					0	0	0.000673	0	0
SLC27A2	11001	broad.mit.edu	37	15	50474656	50474656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr15:50474656G>A	ENST00000267842.5	+	1	264	c.32G>A	c.(31-33)gGa>gAa	p.G11E	SLC27A2_ENST00000380902.4_Missense_Mutation_p.G11E	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	11					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GTCCTGGCGGGACTGCTGTTC	0.667000													5	16					0	0	0.000602	0	0
OR8H3	390152	broad.mit.edu	37	11	55890126	55890126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:55890126C>T	ENST00000313472.3	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AACTATATTTCCTTCACGGGC	0.423000													69	232					0	0	0.003610	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711097	58711097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:58711097C>T	ENST00000300079.5	+	2	156	c.106C>T	c.(106-108)Cca>Tca	p.P36S	GLYATL1_ENST00000317391.4_5'UTR|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	cctgcaggatccaattgtgtc	0.468000													9	29					0	0	0.000443	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075177	106075177	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:106075177G>A	ENST00000278071.2	-	3	1085	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ITPRIP_ENST00000337478.1_Silent_p.F211F|ITPRIP_ENST00000358187.2_Silent_p.F211F	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	211						plasma membrane		p.F211F(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGAAGGGCACGAAAAGGTGGC	0.637000													14	30					0	0	0.003163	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36103869	36103869	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr14:36103869G>T	ENST00000258840.6	-	33	4919	c.4529C>A	c.(4528-4530)cCt>cAt	p.P1510H	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1463H|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1463H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1476H			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1463	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGCATAAAAGGATCATAATC	0.418000													12	25					2.27111e-07	8.23724e-07	0.001368	1	0
ME3	10873	broad.mit.edu	37	11	86158220	86158220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:86158220C>T	ENST00000543262.1	-	12	1593	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	ME3_ENST00000359636.2_Missense_Mutation_p.E423K|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.E423K	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	423					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AGAATCTGCTCCGTGAAGGCT	0.577000													20	52					0	0	0.001523	0	0
GNA14	9630	broad.mit.edu	37	9	80049349	80049349	+	Silent	SNP	T	T	C			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr9:80049349T>C	ENST00000341700.6	-	3	912	c.399A>G	c.(397-399)caA>caG	p.Q133Q		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	133					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TGCCTGGATCTTGCCAGAGCT	0.572000											OREG0019263	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	27					0	0	0.001855	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091331	17091331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:17091331G>A	ENST00000443236.1	-	14	1733	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGTTAAACGAATCGGTTTC	0.592000													11	42					0	0	0.001855	0	0
CD33	945	broad.mit.edu	37	19	51729249	51729249	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr19:51729249C>T	ENST00000436584.2	+	2	283	c.228C>T	c.(226-228)ccC>ccT	p.P76P	CD33_ENST00000391796.3_Silent_p.P203P|CD33_ENST00000262262.4_Silent_p.P203P|CD33_ENST00000421133.2_Silent_p.P76P			P20138	CD33_HUMAN	CD33 molecule	203	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCCCACGGCCCCAGGACCACG	0.612000													7	37					0	0	0.003080	0	0
MYH7	4625	broad.mit.edu	37	14	23894119	23894119	+	Silent	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr14:23894119C>T	ENST00000355349.3	-	22	2700	c.2538G>A	c.(2536-2538)gaG>gaA	p.E846E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	846			E -> Q (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCATCTCCTTCTCTCTTTCTG	0.547000													22	46					0	0	0.003954	0	0
PNMA3	29944	broad.mit.edu	37	X	152225782	152225782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chrX:152225782C>T	ENST00000447306.1	+	2	706	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	PNMA3_ENST00000370264.4_Missense_Mutation_p.L124F|PNMA3_ENST00000370265.4_Missense_Mutation_p.L124F	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	124					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gaaccgagtcctcgggtcgga	0.537000													12	15					0	0	0.001368	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149376715	149376715	+	RNA	SNP	C	C	T			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr1:149376715C>T	ENST00000415338.1	-	0	1061																											TGTGACATCCCCACTCCTGGG	0.507000													21	33					0	0	0.001882	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832987	24832987	+	Silent	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr10:24832987G>A	ENST00000376451.2	+	14	4097	c.3837G>A	c.(3835-3837)ggG>ggA	p.G1279G	KIAA1217_ENST00000376454.3_Silent_p.G1596G|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1596					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTAAAACAGGGAAGAAGACTT	0.458000													32	64					0	0	0.004289	0	0
OLFML1	283298	broad.mit.edu	37	11	7530941	7530941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr11:7530941G>A	ENST00000329293.3	+	3	1125	c.731G>A	c.(730-732)aGg>aAg	p.R244K	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.R244K	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	244	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTGCAGAAGAGGACTGTGGAA	0.463000													14	33					0	0	0.003163	0	0
KLHL23	151230	broad.mit.edu	37	2	170591984	170591996	+	Frame_Shift_Del	DEL	CTAGAGAAGGAAT	CTAGAGAAGGAAT	-			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr2:170591984_170591996delCTAGAGAAGGAAT	ENST00000392647.2	+	2	704_716	c.460_472delCTAGAGAAGGAAT	c.(460-474)ctfs	p.LEKES154fs	KLHL23_ENST00000272797.4_Frame_Shift_Del_p.LEKES154fs|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	154	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GTGTCCAGAACTAGAGAAGGAATCTCGAAGAAT	0.371													18	83	---	---	---	---					
FAM86EP	348926	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:3951121_3951122insTGTC	ENST00000281228.8	-	0	344				FAM86EP_ENST00000313946.8_RNA																							cgttttcACTTTGTGCAGGAAG	0.515													5	5	---	---	---	---					
KIAA1211	57482	broad.mit.edu	37	4	57180878	57180880	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr4:57180878_57180880delGAG	ENST00000504228.1	+	6	1315_1317	c.1210_1212delGAG	c.(1210-1212)del	p.E407del	KIAA1211_ENST00000541073.1_In_Frame_Del_p.E400del|KIAA1211_ENST00000264229.6_In_Frame_Del_p.E407del			Q6ZU35	K1211_HUMAN	KIAA1211	407	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					tctgggggaagaggaggaggagg	0.675													2	4	---	---	---	---					
LYRM5	144363	broad.mit.edu	37	12	25356944	25356944	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr12:25356944delA	ENST00000556402.1	+	2	152	c.48delA	c.(46-48)gtfs	p.V16fs	LYRM5_ENST00000557540.2_Intron|LYRM5_ENST00000556885.1_Intron|LYRM5_ENST00000556927.1_Intron|LYRM5_ENST00000556351.1_Intron|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000555711.1_Intron|LYRM5_ENST00000554266.1_Frame_Shift_Del_p.V16fs|LYRM5_ENST00000381356.4_Intron			Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	16										large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			ATAAAAATGTAAGTAATTATG	0.259													2	4	---	---	---	---					
DIS3	22894	broad.mit.edu	37	13	73355847	73355847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr13:73355847delC	ENST00000377767.4	-	1	224	c.124delG	c.(124-126)cgfs	p.A42fs	DIS3_ENST00000545453.1_5'UTR|DIS3_ENST00000475871.1_5'UTR|DIS3_ENST00000377780.4_Frame_Shift_Del_p.A42fs	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	42					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCCTCGTGCGCCCCTCCACAC	0.687										Multiple Myeloma(4;0.011)			2	4	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-EE-A2A6-06A-11D-A197-08	TCGA-EE-A2A6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b51436d-a1cb-45b8-bcf4-d43fbc2de548	ef42fde7-962c-450d-929c-e8db3a96203c	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													3	5	---	---	---	---