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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CPE	1363	broad.mit.edu	37	4	166416768	166416768	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr4:166416768C>G	uc003irg.4	+	7	1548	c.1271C>G	c.(1270-1272)tCa>tGa	p.S424*		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	424					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTACAGCCTCAGCTCCAGGC	0.393000														65			8		0	0	0.000274275	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708449	108708449	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:108708449G>A	uc022cch.1	-	1	1039	c.954C>T	c.(952-954)tcC>tcT	p.S318S	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.S318S	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	318					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCTTTTCTTGGGACTCCACTG	0.473000														115			12		0	0	0.000151284	0	0
GLP2R	9340	broad.mit.edu	37	17	9760794	9760794	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:9760794C>T	uc002gmd.1	+	5	666	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	222					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CTTCTTTCATCCTGAGAACCC	0.493000														36			7		0	0	8.12818e-05	0	0
FLNC	2318	broad.mit.edu	37	7	128489398	128489398	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:128489398C>T	uc003vnz.4	+	29	5174	c.4965C>T	c.(4963-4965)ggC>ggT	p.G1655G	FLNC_uc003voa.4_Silent_p.G1655G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1655					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCTGCCTGGGCCCTCGAATCC	0.677000														30			6		0	0	3.59834e-05	0	0
TTN	7273	broad.mit.edu	37	2	179437377	179437377	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:179437377A>C	uc021vsy.1	-	274	66003	c.65778T>G	c.(65776-65778)agT>agG	p.S21926R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S15621R|TTN_uc021vta.1_Missense_Mutation_p.S15554R|TTN_uc021vtb.1_Missense_Mutation_p.S15429R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22853	Fibronectin type-III 59.						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)			TATATTTGCCACTGTCAAATC	0.438000														55			16		0	0	0.000958276	0	0
OLIG3	167826	broad.mit.edu	37	6	137814843	137814843	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:137814843G>A	uc003qhp.1	-	0	689	c.465C>T	c.(463-465)caC>caT	p.H155H		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGGCCGAGTGGTGGCCCCCAT	0.672000														21			5		0	0	0.000602214	0	0
IWS1	55677	broad.mit.edu	37	2	128262652	128262652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:128262652G>A	uc002ton.2	-	2	1130	c.827C>T	c.(826-828)tCg>tTg	p.S276L	IWS1_uc010yzl.1_Non-coding_Transcript|BC022892_uc002too.1_5'Flank|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	276	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTCACTTTCCGAATCACTGAT	0.542000														108			38		0	0	0.000437636	0	0
PSMA6	5687	broad.mit.edu	37	14	35780020	35780021	+	Missense_Mutation	DNP	CC	TT	TT	rs78322008		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr14:35780020_35780021CC>TT	uc001wtd.3	+	3	437_438	c.328_329CC>TT	c.(328-330)cct>TTt	p.P110F	KIAA0391_uc001wta.3_Non-coding_Transcript|PSMA6_uc010tpt.2_Missense_Mutation_p.P31F|PSMA6_uc010tpu.2_Missense_Mutation_p.P31F	NM_002791	NP_002782	P60900	PSA6_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6), mRNA.	110					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|RNA binding|purine ribonucleoside triphosphate binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CTATGAGATTCCTGTGGACATG	0.421000														27			5		0	0	6.4e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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					49			7		0	0	0.000157383	0	0
MTM1	4534	broad.mit.edu	37	X	149807437	149807437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:149807437G>A	uc004fef.4	+	6	542	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.E119K|MTM1_uc011mxz.2_Missense_Mutation_p.E41K|MTM1_uc010nte.3_Missense_Mutation_p.E24K	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	156					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTTAAATGAAGAAAAGTT	0.348000														82			10		0	0	0.000978159	0	0
FMO2	2327	broad.mit.edu	37	1	171162617	171162617	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:171162617G>A	uc001ghk.1	+	2	393	c.276G>A	c.(274-276)agG>agA	p.R92R	FMO2_uc010pmd.1_5'UTR	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	92					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATATTTCAGGATTTTTGCTA	0.338000														25			11		0	0	0.00010058	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681103	73681103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:73681103C>T	uc001ouo.3	+	7	1646	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	299					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CATCCAGTTCCCCACCCGCCT	0.597000														50			7		0	0	0.000157383	0	0
RIPK3	11035	broad.mit.edu	37	14	24805428	24805428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr14:24805428C>T	uc001wpb.3	-	9	1720	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.E304K|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.E283K	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	504					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CTCCAGGCTTCAGGATCTTTA	0.567000														45			5		0	0	0.000602214	0	0
TMEM63C	57156	broad.mit.edu	37	14	77718139	77718139	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr14:77718139C>T	uc001xtf.2	+	21	2258	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L	TMEM63C_uc010asq.1_Silent_p.L682L	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	682						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CAGGTTCTCTCCACGCCATCA	0.572000														37			5		0	0	3.59834e-05	0	0
PRSS21	10942	broad.mit.edu	37	16	2871436	2871436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:2871436G>A	uc002crt.3	+	5	881	c.775G>A	c.(775-777)Gga>Aga	p.G259R	PRSS21_uc002crr.3_Missense_Mutation_p.G245R|PRSS21_uc002crs.3_Missense_Mutation_p.G257R	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA.	259	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	p.G259E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CGTGAGCTGGGGAGTGGGCTG	0.597000														19			8		0	0	0.000157383	0	0
PC	5091	broad.mit.edu	37	11	66618334	66618334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:66618334G>A	uc001ojn.1	-	15	2333	c.2284C>T	c.(2284-2286)Cgc>Tgc	p.R762C	PC_uc001ojo.1_Missense_Mutation_p.R762C|PC_uc001ojp.1_Missense_Mutation_p.R762C	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	762	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TCGGGGAAGCGGTCCCGGAGG	0.657000														13			5		0	0	3.59834e-05	0	0
NLGN3	54413	broad.mit.edu	37	X	70387190	70387190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:70387190G>A	uc004dzd.2	+	6	1577	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	NLGN3_uc004dzb.3_Missense_Mutation_p.E395K|NLGN3_uc011mps.2_Missense_Mutation_p.E375K|NLGN3_uc004dzc.3_Missense_Mutation_p.E278K|NLGN3_uc004dze.3_Missense_Mutation_p.E213K	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	415					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CAAGTTTGTGGAAGGGGTGGT	0.512000														36			11		0	0	0.000978159	0	0
BRSK2	9024	broad.mit.edu	37	11	1467078	1467078	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:1467078G>A	uc001ltm.3	+	11	1558	c.1305G>A	c.(1303-1305)acG>acA	p.T435T	BRSK2_uc009ycv.1_Silent_p.T389T|BRSK2_uc001lth.1_Silent_p.T389T|BRSK2_uc001lti.3_Silent_p.T389T|BRSK2_uc001ltl.3_Silent_p.T389T|BRSK2_uc001ltj.3_Silent_p.T389T|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	389	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)		TCAGCGTGACGGACGGCGGCT	0.701000														28			5		0	0	0.000602214	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														44			4		0	0	0.000602214	0	0
GK	2710	broad.mit.edu	37	4	166200515	166200515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr4:166200515C>T	uc003ird.3	-	0	661	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	95					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						ACGGTGGTTTCCCTCTGGTTG	0.423000														82			12		0	0	0.000978159	0	0
ENTPD4	9583	broad.mit.edu	37	8	23243475	23243475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:23243475G>A	uc011kzu.1	-	12	1954	c.1682C>T	c.(1681-1683)gCc>gTc	p.A561V	LOXL2_uc003xdh.1_Intron	NM_001128930	NP_001122402	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 2, mRNA.	0					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		gtgtttggtggccccatatgg	0.458000														55			5		0	0	3.59834e-05	0	0
LIG1	3978	broad.mit.edu	37	19	48619170	48619170	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:48619170C>G	uc002pia.1	-	26	2756	c.2636G>C	c.(2635-2637)cGt>cCt	p.R879P	LIG1_uc010xze.1_Missense_Mutation_p.R572P|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.R811P|LIG1_uc010xzg.1_Missense_Mutation_p.R848P	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	879					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTGTCTTCACGGACTCGAAT	0.637000								Nucleotide excision repair (NER)						10			3		0	0	6.4e-05	0	0
VWF	7450	broad.mit.edu	37	12	6103338	6103338	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr12:6103338G>A	uc001qnn.1	-	36	6538	c.6288C>T	c.(6286-6288)ttC>ttT	p.F2096F	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2096	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCTCAGCATGAAGTCATTGG	0.502000														18			10		0	0	0.000442599	0	0
ZNF226	7769	broad.mit.edu	37	19	44681046	44681046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:44681046C>T	uc002oys.3	+	5	1811	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	ZNF226_uc002oyp.3_Missense_Mutation_p.S544L|ZNF226_uc002oyq.3_Missense_Mutation_p.S427L|ZNF226_uc002oyr.3_Missense_Mutation_p.S427L|ZNF226_uc002oyt.3_Missense_Mutation_p.S544L	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGTCAAAGTTCGTATCTTCAA	0.443000														87			12		0	0	0.000151284	0	0
PREX2	80243	broad.mit.edu	37	8	68995598	68995598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:68995598G>A	uc003xxv.1	+	17	2029	c.2002G>A	c.(2002-2004)Gtt>Att	p.V668I	PREX2_uc003xxu.1_Missense_Mutation_p.V668I|PREX2_uc011lez.1_Missense_Mutation_p.V603I	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	668	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			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						ACCTCTAAGAGTTCTTGTGAG	0.313000														43			10		0	0	0.000673444	0	0
OR5D13	390142	broad.mit.edu	37	11	55541597	55541597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:55541597G>A	uc010ril.2	+	0	684	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTACCATTATGAAGATGCGAT	0.418000														39			7		0	0	8.12818e-05	0	0
CALU	813	broad.mit.edu	37	7	128409143	128409143	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:128409143C>T	uc022ald.1	+	7	1837	c.894C>T	c.(892-894)atC>atT	p.I298I	CALU_uc022alg.1_Silent_p.I216I|CALU_uc022alh.1_Silent_p.I216I|CALU_uc022ali.1_Silent_p.I138I|CALU_uc003vns.3_Silent_p.I290I|CALU_uc003vnr.3_Silent_p.I298I|CALU_uc003vnq.3_Silent_p.I290I|CALU_uc022ale.1_Missense_Mutation_p.R224C|CALU_uc022alf.1_Silent_p.I139I	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	290	EF-hand 6.				platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AGGAGGAGATCGTTGACAAGT	0.423000														42			6		0	0	8.12818e-05	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691392	157691392	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:157691392C>T	uc003wno.3	-	11	1882	c.1761G>A	c.(1759-1761)ctG>ctA	p.L587L	PTPRN2_uc003wnp.3_Silent_p.L570L|PTPRN2_uc003wnq.3_Silent_p.L558L|PTPRN2_uc003wnr.3_Silent_p.L549L|PTPRN2_uc011kwa.2_Silent_p.L610L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	587						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GAAGAATTTTCAGTCCAGAGG	0.522000														149			16		0	0	0.000566183	0	0
TLE4	7091	broad.mit.edu	37	9	82267644	82267644	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr9:82267644T>C	uc004ald.3	+	6	1355	c.506T>C	c.(505-507)cTa>cCa	p.L169P	TLE4_uc004alc.3_Missense_Mutation_p.L176P|TLE4_uc010mpr.3_Missense_Mutation_p.L55P|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.L144P|TLE4_uc010mps.3_Missense_Mutation_p.L169P|TLE4_uc004alf.3_Missense_Mutation_p.L115P	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0								p.G168R(1)		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						TCCAGTGCTCTAGGAGGTCAG	0.542000														62			11		0	0	0.000151284	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032614	46032614	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr21:46032614C>T	uc002zfo.1	+	0	619	c.597C>T	c.(595-597)acC>acT	p.T199T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	199	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.C198R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTTGCTGCACCACCTCCTGCT	0.652000														78			17		0	0	0.000566183	0	0
ROBO2	6092	broad.mit.edu	37	3	77629266	77629266	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:77629266A>T	uc011bgk.2	+	16	3152	c.2509A>T	c.(2509-2511)Atc>Ttc	p.I837F	ROBO2_uc021xat.1_Missense_Mutation_p.I849F|ROBO2_uc003dpy.4_Missense_Mutation_p.I833F|ROBO2_uc003dpz.3_Missense_Mutation_p.I837F|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	833					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R836C(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCCAATAATAATCGGTGAGTA	0.413000														53			7		0	0	0.000157383	0	0
PLCB4	5332	broad.mit.edu	37	20	9404488	9404488	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:9404488C>T	uc021wam.1	+	23	2392	c.2377C>T	c.(2377-2379)Caa>Taa	p.Q793*	PLCB4_uc010gbw.1_Nonsense_Mutation_p.Q793*|PLCB4_uc010gbx.3_Nonsense_Mutation_p.Q805*|PLCB4_uc021wal.1_Nonsense_Mutation_p.Q793*|PLCB4_uc002wnh.3_Nonsense_Mutation_p.Q640*	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	793					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGATGGCCTCCAAGCCGGATA	0.443000														24			7		0	0	0.000157383	0	0
KRT32	3882	broad.mit.edu	37	17	39623286	39623286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:39623286C>T	uc002hwr.3	-	0	353	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	98	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TGCATGGTTTCCTTCTCATTG	0.607000														67			6		0	0	0.000157383	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711946	140711946	+	Silent	SNP	C	G	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:140711946C>G	uc003lji.2	+	0	1695	c.1695C>G	c.(1693-1695)ccC>ccG	p.P565P	PCDHGC5_uc011dan.2_Silent_p.P565P	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	567					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTACCCCGCCCTCCCCA	0.662000														95			10		0	0	0.000673444	0	0
KRT28	162605	broad.mit.edu	37	17	38954573	38954573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:38954573C>T	uc002hvh.1	-	2	670	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	202	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.E202*(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGCGTCAGCTCGTCCAGGACT	0.498000														59			12		0	0	0.000978159	0	0
ITIH3	3699	broad.mit.edu	37	3	52836750	52836750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:52836750G>A	uc003dfv.2	+	12	1673	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				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)		CTGCAGGAGCGGGACTACATC	0.607000														32			10		0	0	0.000978159	0	0
KRT6A	3853	broad.mit.edu	37	12	52881517	52881517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr12:52881517C>T	uc001sam.3	-	8	1891	c.1682G>A	c.(1681-1683)aGc>aAc	p.S561N		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	561	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGCTTATAGCTCTTCCTGCT	0.597000														36			10		0	0	0.000673444	0	0
RNF17	56163	broad.mit.edu	37	13	25376549	25376549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr13:25376549G>A	uc001upr.3	+	13	1830	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	RNF17_uc010tdd.1_Missense_Mutation_p.E456K|RNF17_uc010tde.2_Missense_Mutation_p.E597K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E536K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	597					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			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)		AGCTAAAGTGGAATTTTTGAA	0.333000														60			6		0	0	3.59834e-05	0	0
UGT3A2	167127	broad.mit.edu	37	5	36052010	36052010	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:36052010C>T	uc003jjz.2	-	2	405	c.273G>A	c.(271-273)aaG>aaA	p.K91K	UGT3A2_uc011cos.2_Silent_p.K57K|UGT3A2_uc011cot.2_5'UTR	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	91						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATCAAAACTCTTTTTAAATT	0.303000														38			4		0	0	0.00024832	0	0
CCDC90A	63933	broad.mit.edu	37	6	13802496	13802496	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:13802496A>T	uc003nbc.2	-	2	749	c.618T>A	c.(616-618)gaT>gaA	p.D206E	CCDC90A_uc010jpf.3_Non-coding_Transcript	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	Homo sapiens coiled-coil domain containing 90A (CCDC90A), mRNA.	206						integral to membrane|mitochondrion				cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				TGGTGACCATATCTTTGTAGA	0.408000														42			8		0	0	0.000274275	0	0
MOV10L1	54456	broad.mit.edu	37	22	50558939	50558939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr22:50558939G>A	uc003bjj.3	+	9	1546	c.1463G>A	c.(1462-1464)aGa>aAa	p.R488K	MOV10L1_uc003bjk.4_Missense_Mutation_p.R488K|MOV10L1_uc011arp.2_Missense_Mutation_p.R468K|MOV10L1_uc011arq.1_Missense_Mutation_p.R249K|MOV10L1_uc010hao.1_Intron	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	488					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGGAACTCAAGACGACAACTT	0.338000														60			6		0	0	3.59834e-05	0	0
IFT122	55764	broad.mit.edu	37	3	129237958	129237958	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:129237958A>G	uc003eml.3	+	28	3759	c.3553A>G	c.(3553-3555)Att>Gtt	p.I1185V	IFT122_uc003emm.3_Missense_Mutation_p.I1134V|IFT122_uc003emn.3_Missense_Mutation_p.I1075V|IFT122_uc003emo.3_Missense_Mutation_p.I1024V|IFT122_uc003emp.3_Missense_Mutation_p.I984V|IFT122_uc010htc.3_Missense_Mutation_p.I1127V|IFT122_uc011bky.2_Missense_Mutation_p.I925V|IFT122_uc011bla.2_Missense_Mutation_p.I908V|IFT122_uc003emr.3_Missense_Mutation_p.I887V|IFT122_uc010hte.3_Missense_Mutation_p.I460V|IFT122_uc003ems.3_Missense_Mutation_p.I516V	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1134					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AGGCTCCCAGATTCTGCGGCT	0.572000														60			8		0	0	0.000978159	0	0
GPC4	2239	broad.mit.edu	37	X	132458257	132458257	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:132458257G>A	uc004exc.1	-	2	839	c.627C>T	c.(625-627)ctC>ctT	p.L209L	GPC4_uc011mvg.1_Silent_p.L139L	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	209					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)					GAGTAACCTGGAGCTTCAATT	0.512000														74			9		0	0	0.000274275	0	0
PET112	5188	broad.mit.edu	37	4	152593947	152593947	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr4:152593947G>A	uc003iml.3	-	11	1553	c.1512C>T	c.(1510-1512)ctC>ctT	p.L504L	PET112_uc003imk.3_Non-coding_Transcript	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	504						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGAGTGGCAGAGCTGCTCCA	0.587000														21			7		0	0	0.000157383	0	0
PMFBP1	83449	broad.mit.edu	37	16	72174358	72174358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:72174358C>T	uc002fcc.4	-	5	932	c.760G>A	c.(760-762)Gat>Aat	p.D254N	PMFBP1_uc002fcd.3_Missense_Mutation_p.D254N|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.D109N	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	254										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGAATGAGATCATCCTGTTGA	0.448000														156			15		0	0	0.000308642	0	0
ROBO3	64221	broad.mit.edu	37	11	124745136	124745136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:124745136C>T	uc001qbc.3	+	13	2372	c.2203C>T	c.(2203-2205)Cct>Tct	p.P735S	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	735	Fibronectin type-III 2.				axon midline choice point recognition	integral to membrane	receptor activity	p.P735P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AAGAGGACTCCCTCCAGGGAC	0.582000														57			5		0	0	0.000602214	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960458	73960458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:73960458C>T	uc004eby.3	-	2	4551	c.3934G>A	c.(3934-3936)Gaa>Aaa	p.E1312K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1312					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCCTGAAATTCCCGTTGGTCA	0.522000														86			9		0	0	0.000274275	0	0
NWD1	284434	broad.mit.edu	37	19	16910720	16910720	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:16910720G>A	uc002neu.4	+	16	3905	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	NWD1_uc002net.4_Silent_p.G1026G|NWD1_uc002nev.4_Silent_p.G955G|NWD1_uc021uqg.1_Silent_p.G1026G	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1161							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGAACAGGGGACCCTTCTGG	0.577000														33			9		0	0	0.000673444	0	0
USH2A	7399	broad.mit.edu	37	1	216420487	216420487	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:216420487T>C	uc001hku.1	-	12	2636	c.2249A>G	c.(2248-2250)aAc>aGc	p.N750S	USH2A_uc001hkv.3_Missense_Mutation_p.N750S	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	750	Laminin EGF-like 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	p.C749Y(1)		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)		GCCATGGAGGTTACACTGGCA	0.413000										HNSCC(13;0.011)				64			24		0	0	0.000586117	0	0
ACSM2A	123876	broad.mit.edu	37	16	20492171	20492171	+	Silent	SNP	G	A	A	rs149737523		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:20492171G>A	uc010bwe.3	+	12	1676	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E	ACSM2A_uc010vax.1_Silent_p.E400E|ACSM2A_uc002dhf.4_Silent_p.E479E|ACSM2A_uc002dhg.4_Silent_p.E479E|ACSM2A_uc010vay.2_Silent_p.E400E|ACSM2A_uc002dhh.4_Silent_p.E109E	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	479					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.E479E(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CGGAGGTAGAGAATGCACTGA	0.587000														33			6		0	0	0.000157383	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847233	47847233	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:47847233G>A	uc011dwm.2	-	2	1381	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	PTCHD4_uc011dwn.2_Silent_p.F196F	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	449						integral to membrane	hedgehog receptor activity										GTTCACGGAGGAAGTGCTGAA	0.453000														41			7		0	0	8.12818e-05	0	0
GPR179	440435	broad.mit.edu	37	17	36486526	36486526	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:36486526G>A	uc002hpz.3	-	10	2947	c.2926C>T	c.(2926-2928)Ctg>Ttg	p.L976L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	976						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				actggtgccagggcaggggct	0.617000														26			4		0	0	0.00024832	0	0
S100A7A	338324	broad.mit.edu	37	1	153391621	153391621	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:153391621G>A	uc001fbt.1	+	3	199	c.142_splice	c.e3-1	p.D48_splice		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	48	EF-hand 1.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTTCACAGGACAAAAAGGG	0.408000														22			6		0	0	3.59834e-05	0	0
PCMTD1	115294	broad.mit.edu	37	8	52746112	52746112	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:52746112A>G	uc003xqx.4	-	3	889	c.548T>C	c.(547-549)gTt>gCt	p.V183A	PCMTD1_uc011ldm.2_Missense_Mutation_p.V53A|PCMTD1_uc011ldn.2_5'UTR|PCMTD1_uc010lya.3_Missense_Mutation_p.V107A|PCMTD1_uc011ldo.1_Missense_Mutation_p.V183A	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	183						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TATGCCTCCAACTTTTAGTAA	0.383000														52			7		0	0	0.000274275	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14424126	14424126	+	RNA	SNP	C	G	G	rs143763279	by1000genomes	TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr21:14424126C>G	uc002yiy.3	+	4		c.2941C>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GAAGGAACATCTGAAGGAACA	0.453000														16			4		0	0	3.59834e-05	0	0
ITIH5	80760	broad.mit.edu	37	10	7679332	7679332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr10:7679332C>T	uc021pmv.1	-	4	617	c.511G>A	c.(511-513)Gag>Aag	p.E171K	ITIH5_uc001ijr.2_Missense_Mutation_p.E171K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	171					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGCTGTGCTCGTACTTGCCC	0.592000														36			6		0	0	3.59834e-05	0	0
OR51A4	401666	broad.mit.edu	37	11	4968235	4968235	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:4968235G>A	uc010qys.2	-	0	96	c.96C>T	c.(94-96)ccC>ccT	p.P32P		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGCAGATGGGGATAGAGA	0.413000														33			4		0	0	0.000157383	0	0
POC1A	25886	broad.mit.edu	37	3	52130714	52130714	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:52130714G>A	uc003dcu.3	-	9	1314	c.996C>T	c.(994-996)ttC>ttT	p.F332F	POC1A_uc003dcv.3_Silent_p.F294F|POC1A_uc003dcw.3_Intron	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	332						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GGGGGACAGGGAAGTCCACTT	0.542000														57			10		0	0	0.00010058	0	0
MST1P2	11209	broad.mit.edu	37	1	16975289	16975289	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:16975289T>A	uc010och.2	+	8		c.1656_splice	c.e8+2		MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCCCCCCAGGTTAGGAGTTGG	0.577000														88			11		0	0	0.000978159	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748240	19748240	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr13:19748240C>T	uc009zzj.3	-	4	1221	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	372					'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)		ACACAGCCCGCTGCACCTTGG	0.602000														36			6		0	0	3.59834e-05	0	0
PDE1A	5136	broad.mit.edu	37	2	183095762	183095762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:183095762C>T	uc002uos.3	-	5	646	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PDE1A_uc010zfp.1_Missense_Mutation_p.D84N|PDE1A_uc002uoq.1_Missense_Mutation_p.D188N|PDE1A_uc010zfq.1_Missense_Mutation_p.D188N|PDE1A_uc002uor.3_Missense_Mutation_p.D172N|PDE1A_uc002uou.3_Missense_Mutation_p.D154N	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	188					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D188N(3)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTGATAAGATCATATCTGGTA	0.338000														56			17		0	0	0.000566183	0	0
SIRPG	55423	broad.mit.edu	37	20	1616064	1616065	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:1616064_1616065CC>TT	uc002wfm.1	-	3	994_995	c.929_930GG>AA	c.(928-930)tgg>tAA	p.W310*	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	310	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding	p.W310R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ACCAGCTTGTCCAGTTGTAGGT	0.545000														78			6		0	0	6.4e-05	0	0
DIRC2	84925	broad.mit.edu	37	3	122598138	122598139	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:122598138_122598139CG>AT	uc003efw.4	+	8	1489_1490	c.1350_1351CG>AT	c.(1348-1353)cccggg>ccATgg	p.G451W	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Missense_Mutation_p.G289W|BC042374_uc003efx.1_Non-coding_Transcript	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	451					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGTGCCTTCCCGGGTCGTGTTT	0.455000														314			10		0	0	6.4e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92085392	92085393	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:92085392_92085393CC>AA	uc001pdj.4	+	0	131_132	c.114_115CC>AA	c.(112-117)cccctg>ccAAtg	p.L39M		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	39					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGACTGGACCCCTGGGCTTCCA	0.545000										TCGA Ovarian(4;0.039)				471			12		0	0	6.4e-05	0	0
LONRF2	164832	broad.mit.edu	37	2	100925677	100925677	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:100925677A>T	uc002tal.4	-	1	1330	c.690T>A	c.(688-690)gaT>gaA	p.D230E	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	230					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ATAATGAATTATCATCAGGAG	0.358000														38			10		0	0	0.000442599	0	0
KCNB1	3745	broad.mit.edu	37	20	48098561	48098561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:48098561C>T	uc002xur.1	-	0	623	c.457G>A	c.(457-459)Gag>Aag	p.E153K	KCNB1_uc002xus.1_Missense_Mutation_p.E153K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	153					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGTAGGGTCTCGGCCTCACGC	0.577000														58			6		0	0	3.59834e-05	0	0
HLTF	6596	broad.mit.edu	37	3	148759958	148759958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:148759958G>A	uc003ewq.1	-	18	2410	c.2192C>T	c.(2191-2193)cCc>cTc	p.P731L	HLTF_uc003ewr.1_Missense_Mutation_p.P731L|HLTF_uc003ews.1_Missense_Mutation_p.P730L|HLTF_uc010hve.1_Missense_Mutation_p.P730L	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	731					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCTACCTGAGGGGCCATTGGA	0.363000														38			7		0	0	0.000274275	0	0
C10orf120	399814	broad.mit.edu	37	10	124457771	124457771	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr10:124457771C>T	uc001lgn.3	-	2	518	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	162										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TACTGACGTTCACCTGCTCTC	0.468000														76			12		0	0	0.00010058	0	0
BSX	390259	broad.mit.edu	37	11	122852195	122852195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:122852195G>A	uc010rzs.2	-	0	185	c.185C>T	c.(184-186)cCc>cTc	p.P62L		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	Homo sapiens brain-specific homeobox (BSX), mRNA.	62										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CAAGAGGGTGGGTGTGGGCAT	0.587000														4			3		0	0	6.4e-05	0	0
GTF2E2	2961	broad.mit.edu	37	8	30464633	30464633	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:30464633G>T	uc003xig.3	-	5	837	c.584C>A	c.(583-585)cCc>cAc	p.P195H		NM_002095	NP_002086	P29084	T2EB_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA.	195					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	p.R194H(1)|p.P195P(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTTCTTATCGGGACGATTTAC	0.303000														55			8		7.48243e-07	1.14864e-05	0.000442599	1	0
BSN	8927	broad.mit.edu	37	3	49679978	49679978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:49679978C>T	uc003cxe.4	+	2	1025	c.911C>T	c.(910-912)cCt>cTt	p.P304L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	304					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGGTGTCTCCTCAGCCCCCT	0.701000														8			5		0	0	3.59834e-05	0	0
GRIA3	2892	broad.mit.edu	37	X	122538614	122538614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:122538614G>A	uc004etq.4	+	9	1641	c.1349G>A	c.(1348-1350)cGa>cAa	p.R450Q	GRIA3_uc004etr.4_Missense_Mutation_p.R450Q|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.R434Q	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	450			R -> Q (in MRX94).		glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGAAATGAACGATATGAAGGC	0.388000														32			8		0	0	0.000274275	0	0
ZNF558	148156	broad.mit.edu	37	19	8922255	8922255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:8922255C>T	uc002mkn.1	-	5	1141	c.911G>A	c.(910-912)aGc>aAc	p.S304N	ZNF558_uc010xkh.1_Missense_Mutation_p.S233N|ZNF558_uc010dwg.1_Missense_Mutation_p.S304N	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CAGATAGGAGCTCTTCCTGAA	0.443000														48			8		0	0	0.000274275	0	0
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:20071504G>A	uc002wru.3	+	6	697	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_uc010gcw.2_Missense_Mutation_p.D149N|C20orf26_uc010zse.2_Missense_Mutation_p.D195N|C20orf26_uc010zsf.1_Missense_Mutation_p.D195N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	195								p.D195N(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438000														80			30		0	0	0.000409698	0	0
FBN2	2201	broad.mit.edu	37	5	127863582	127863582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:127863582C>T	uc003kuu.3	-	3	954	c.515G>A	c.(514-516)gGa>gAa	p.G172E	FBN2_uc003kuv.2_Missense_Mutation_p.G139E|FBN2_uc003kuw.4_Missense_Mutation_p.G172E	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	172	EGF-like 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAATAAGTTCCAATATATCC	0.373000														34			7		0	0	0.000157383	0	0
GCN1L1	10985	broad.mit.edu	37	12	120587453	120587453	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr12:120587453G>A	uc001txo.3	-	35	4516	c.4503C>T	c.(4501-4503)tcC>tcT	p.S1501S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1501					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCCAGTAAGGAGGGGAGCA	0.572000														31			4		0	0	0.000602214	0	0
EXPH5	23086	broad.mit.edu	37	11	108381787	108381787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:108381787C>T	uc001pkk.3	-	5	4558	c.4447G>A	c.(4447-4449)Gaa>Aaa	p.E1483K	EXPH5_uc010rvz.2_Missense_Mutation_p.E1327K|EXPH5_uc010rvy.2_Missense_Mutation_p.E1295K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1483					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCTCTGCCTTCCCTAGGCTGT	0.473000														28			5		0	0	0.000602214	0	0
RNF148	378925	broad.mit.edu	37	7	122342725	122342725	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:122342725A>T	uc003vkk.1	-	0	297	c.80T>A	c.(79-81)cTt>cAt	p.L27H	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	27						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AGGAAAGCTAAGTAGTAGAAA	0.408000														17			4		0	0	0.00024832	0	0
RAB27B	5874	broad.mit.edu	37	18	52546620	52546620	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr18:52546620G>A	uc002lfr.3	+	2	417	c.174G>A	c.(172-174)ccG>ccA	p.P58P		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	58					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity	p.G57R(1)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CACAAGGACCGAATGGATCTT	0.403000														38			14		0	0	0.000308642	0	0
DCHS2	54798	broad.mit.edu	37	4	155156816	155156816	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr4:155156816G>A	uc003inw.2	-	24	7623	c.7623C>T	c.(7621-7623)atC>atT	p.I2541I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2541					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCACCAGGCTGATTGAAAAGC	0.383000														27			5		0	0	0.000602214	0	0
ZNF436	80818	broad.mit.edu	37	1	23689214	23689214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:23689214G>A	uc001bgt.3	-	2	1042	c.661C>T	c.(661-663)Cct>Tct	p.P221S	ZNF436_uc001bgu.3_Missense_Mutation_p.P221S	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CATTTGTGAGGCTTCTCTCCA	0.463000														56			19		0	0	0.000175454	0	0
TRIM16L	147166	broad.mit.edu	37	17	18638497	18638497	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:18638497G>A	uc010cqg.1	+	6	1111	c.1077G>A	c.(1075-1077)ggG>ggA	p.G359G	TRIM16L_uc010vyf.1_Silent_p.G311G|TRIM16L_uc002gug.1_Silent_p.G257G|TRIM16L_uc002guh.1_Silent_p.G257G|TRIM16L_uc002gui.1_Silent_p.G257G|TRIM16L_uc010vyg.1_Silent_p.G257G|TRIM16L_uc010vyh.1_3'UTR	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	Homo sapiens tripartite motif containing 16-like (TRIM16L), mRNA.	257						cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						AATGGAACGGGAAGGAGTTCA	0.557000														63			13		0	0	0.000219431	0	0
TTN	7273	broad.mit.edu	37	2	179431326	179431326	+	Silent	SNP	G	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:179431326G>T	uc021vsy.1	-	274	72054	c.71829C>A	c.(71827-71829)ccC>ccA	p.P23943P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P17638P|TTN_uc021vta.1_Silent_p.P17571P|TTN_uc021vtb.1_Silent_p.P17446P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24870	Ig-like 120.						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)			CATCATAGATGGGTTTACCCC	0.438000														157			7		0.000157383	0.00240172	0.000157383	1	0
ITGAM	3684	broad.mit.edu	37	16	31284771	31284771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:31284771G>A	uc002ebr.3	+	7	888	c.790G>A	c.(790-792)Gat>Aat	p.D264N	ITGAM_uc002ebq.3_Missense_Mutation_p.D264N|ITGAM_uc010cam.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	264	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAAGTTTGGCGATCCCTTGGG	0.498000														36			6		0	0	3.59834e-05	0	0
BPIFB4	149954	broad.mit.edu	37	20	31680353	31680353	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:31680353C>T	uc010zue.2	+	8	1248	c.1233C>T	c.(1231-1233)ccC>ccT	p.P411P		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	411						cytoplasm|extracellular region	lipid binding										AGCTGCCTCCCATGGGTGACA	0.592000														44			12		0	0	0.000151284	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147964199	147964200	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:147964199_147964200CT>TA	uc003weu.2	+	20	3972_3973	c.3456_3457CT>TA	c.(3454-3459)ctcttt>ctTAtt	p.F1153I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1153	Laminin G-like 4.				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			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)			CCAAGTCGCTCTTTCTGGGAAA	0.406000										HNSCC(39;0.1)				71			21		0	0	6.4e-05	0	0
F11	2160	broad.mit.edu	37	4	187197534	187197534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr4:187197534G>A	uc003iza.1	+	6	1078	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	249	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ATGGCCCAAAGAATCTCAAAG	0.378000														39			5		0	0	0.000602214	0	0
VPS16	64601	broad.mit.edu	37	20	2843503	2843503	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:2843503C>T	uc002whe.3	+	12	1302	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Intron|VPS16_uc002whg.3_Silent_p.F104F	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	418					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCGACAGCTTCGTGCACATGT	0.582000														93			23		0	0	0.00047179	0	0
DNAH5	1767	broad.mit.edu	37	5	13841027	13841027	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:13841027G>A	uc003jfd.2	-	33	5739	c.5697C>T	c.(5695-5697)atC>atT	p.I1899I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1899	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1899M(2)		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)					GGTCATCAAAGATATCCCTTT	0.383000									Kartagener syndrome					25			5		0	0	0.000602214	0	0
ZNF568	374900	broad.mit.edu	37	19	37428087	37428087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:37428087G>A	uc002ofc.3	+	5	819	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ZNF568_uc010efg.3_Missense_Mutation_p.E101K|ZNF568_uc010xtn.2_Missense_Mutation_p.E37K|ZNF568_uc021uts.1_Missense_Mutation_p.E101K|ZNF568_uc002ofd.3_Missense_Mutation_p.E37K|ZNF568_uc010efe.3_Missense_Mutation_p.E37K|ZNF568_uc010eff.2_Missense_Mutation_p.E87K	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	101	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCAAGTTGGAGCAAGAAGA	0.453000														37			5		0	0	3.59834e-05	0	0
KRT13	3860	broad.mit.edu	37	17	39661352	39661352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:39661352C>T	uc002hwu.1	-	0	514	c.451G>A	c.(451-453)Gac>Aac	p.D151N	KRT13_uc002hwv.1_Missense_Mutation_p.D151N|KRT13_uc010wfr.2_Missense_Mutation_p.D44N|KRT13_uc010cxo.3_Missense_Mutation_p.D151N|KRT13_uc021txk.1_Missense_Mutation_p.D44N	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	151	Linker 1.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGGCTGTAGTCCCGCTCAGGG	0.622000														34			4		0	0	0.00024832	0	0
OR9A2	135924	broad.mit.edu	37	7	142723983	142723983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:142723983C>T	uc003wcc.1	-	0	237	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	79					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)					CCCAAAGCATCATGGGGACAA	0.478000														77			6		0	0	3.59834e-05	0	0
PC	5091	broad.mit.edu	37	11	66618319	66618319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:66618319G>A	uc001ojn.1	-	15	2348	c.2299C>T	c.(2299-2301)Cca>Tca	p.P767S	PC_uc001ojo.1_Missense_Mutation_p.P767S|PC_uc001ojp.1_Missense_Mutation_p.P767S	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	767	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATGTGCAGTGGGAGGTCGGGG	0.662000														14			5		0	0	3.59834e-05	0	0
HLF	3131	broad.mit.edu	37	17	53345447	53345447	+	Splice_Site	SNP	G	C	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:53345447G>C	uc002iug.1	+	2	976	c.451_splice	c.e2+1	p.G151_splice	HLF_uc010dce.1_Splice_Site_p.G66_splice|HLF_uc002iuh.2_Splice_Site_p.G66_splice|HLF_uc010wni.1_Splice_Site_p.Q99_splice	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	151					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CATCAGACCAGGTAAGTGCCC	0.562000			T	TCF3	ALL									29			5		0	0	3.59834e-05	0	0
MCTP2	55784	broad.mit.edu	37	15	94841644	94841644	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:94841644C>T	uc002btj.3	+	0	215	c.150C>T	c.(148-150)ctC>ctT	p.L50L	MCTP2_uc010urg.1_Silent_p.L50L|MCTP2_uc002bti.2_Silent_p.L50L|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Silent_p.L50L|MCTP2_uc002btg.4_Silent_p.L50L|MCTP2_uc002bth.4_Silent_p.L50L	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	50					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTCTCAGCCTCTCTGTGCCTG	0.587000														46			5		0	0	0.000602214	0	0
SLC1A3	6507	broad.mit.edu	37	5	36686225	36686225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:36686225G>A	uc003jkj.4	+	9	1959	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	SLC1A3_uc011cox.2_Missense_Mutation_p.E388K|SLC1A3_uc010iuy.3_Missense_Mutation_p.E450K	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	495					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGATTGTGGAGCACTTGTC	0.517000														59			7		0	0	0.000442599	0	0
HDAC9	9734	broad.mit.edu	37	7	18631231	18631231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:18631231C>T	uc003sui.3	+	3	549	c.508C>T	c.(508-510)Cat>Tat	p.H170Y	HDAC9_uc003sue.3_Missense_Mutation_p.H167Y|HDAC9_uc011jyd.2_Missense_Mutation_p.H167Y|HDAC9_uc003suh.3_Missense_Mutation_p.H167Y|HDAC9_uc003suj.3_Missense_Mutation_p.H170Y|HDAC9_uc011jya.2_Missense_Mutation_p.H209Y|HDAC9_uc003sua.1_Missense_Mutation_p.H189Y|HDAC9_uc003sud.2_Missense_Mutation_p.H167Y|HDAC9_uc011jyc.2_Missense_Mutation_p.H170Y|HDAC9_uc011jyb.2_Missense_Mutation_p.H167Y|HDAC9_uc003suf.2_Missense_Mutation_p.H198Y|HDAC9_uc010kud.2_Missense_Mutation_p.H170Y|HDAC9_uc011jye.2_Missense_Mutation_p.H139Y|HDAC9_uc011jyf.2_Missense_Mutation_p.H136Y|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	167					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGAAAAAATCATTCCGTGAG	0.448000														27			6		0	0	0.000157383	0	0
BSPRY	54836	broad.mit.edu	37	9	116132413	116132413	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr9:116132413C>T	uc004bhg.4	+	5	1248	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	BSPRY_uc010muw.3_3'UTR	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	400	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CCATTTCTATCGTCCGCTGAC	0.577000														29			8		0	0	0.000157383	0	0
GCN1L1	10985	broad.mit.edu	37	12	120585034	120585034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr12:120585034C>T	uc001txo.3	-	37	4782	c.4769G>A	c.(4768-4770)aGg>aAg	p.R1590K		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1590					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGGTCTTCCTGGAGGGATC	0.557000														16			6		0	0	3.59834e-05	0	0
ABL2	27	broad.mit.edu	37	1	179100501	179100501	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:179100501G>A	uc001gmj.4	-	2	623	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ABL2_uc010pnf.2_Silent_p.F112F|ABL2_uc010png.2_Silent_p.F91F|ABL2_uc010pnh.2_Silent_p.F91F|ABL2_uc009wxe.3_Silent_p.F91F|ABL2_uc001gmg.4_Silent_p.F97F|ABL2_uc001gmi.4_Silent_p.F97F|ABL2_uc010pne.2_Silent_p.F76F|ABL2_uc001gmk.3_Silent_p.F76F|ABL2_uc009wxf.2_Silent_p.F97F	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	112	SH3.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AAAGTGCAACGAAGAGATTAG	0.443000			T	ETV6	AML									19			5		0	0	0.000602214	0	0
OR52N2	390077	broad.mit.edu	37	11	5842271	5842271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:5842271C>T	uc010qzp.2	+	0	706	c.706C>T	c.(706-708)Cgt>Tgt	p.R236C	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAGATGCTCGTCACAAAGC	0.428000														64			6		0	0	3.59834e-05	0	0
NKAP	79576	broad.mit.edu	37	X	119072753	119072753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:119072753C>T	uc004esh.3	-	1	574	c.407G>A	c.(406-408)aGa>aAa	p.R136K	NKAP_uc004esg.3_5'Flank	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	136					Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTCTCCAATTCTCTCTCTCTC	0.318000														78			9		0	0	0.000274275	0	0
TLK2	11011	broad.mit.edu	37	17	60613535	60613535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:60613535G>A	uc010ddp.3	+	6	636	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	TLK2_uc002izx.4_5'UTR|TLK2_uc002izz.4_Missense_Mutation_p.R123Q|TLK2_uc002jaa.4_Missense_Mutation_p.R91Q|TLK2_uc010wpd.2_Missense_Mutation_p.R91Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	123					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTCCAGCGACGAGTAGAACAG	0.438000														25			7		0	0	0.000274275	0	0
FLNC	2318	broad.mit.edu	37	7	128478742	128478742	+	Silent	SNP	T	C	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:128478742T>C	uc003vnz.4	+	7	1505	c.1296T>C	c.(1294-1296)ggT>ggC	p.G432G	FLNC_uc003voa.4_Silent_p.G432G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	432					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGACAAGGGTGACAGCACGT	0.652000														83			18		0	0	0.00074312	0	0
UNC45A	55898	broad.mit.edu	37	15	91486257	91486258	+	Silent	DNP	CC	AA	AA	rs79580307	byFrequency	TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:91486257_91486258CC>AA	uc002bqg.3	+	7	1312_1313	c.972_973CC>AA	c.(970-975)ccccgg>ccAAgg	p.324_325PR>PR	UNC45A_uc002bqd.3_Silent_p.309_310PR>PR	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	324					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AAGCGGTGCCCCGGAAGTCTCT	0.530000														264			11		0	0	6.4e-05	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76555957	76555957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:76555957C>T	uc002fex.1	+	15	2706	c.2567C>T	c.(2566-2568)tCa>tTa	p.S856L	CNTNAP4_uc002feu.1_Missense_Mutation_p.S852L|CNTNAP4_uc002fev.1_Missense_Mutation_p.S717L|CNTNAP4_uc010chb.1_Missense_Mutation_p.S780L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	853	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTGACTTTTTCATTTGATGTG	0.448000														115			13		0	0	0.000422831	0	0
CEP350	9857	broad.mit.edu	37	1	179989667	179989667	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:179989667A>G	uc001gnt.3	+	11	3141	c.2758A>G	c.(2758-2760)Aaa>Gaa	p.K920E	CEP350_uc009wxl.2_Missense_Mutation_p.K919E|CEP350_uc001gnu.3_Missense_Mutation_p.K754E	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	920						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAGTGAATTTAAAAAGCTTCC	0.428000														31			12		0	0	0.00010058	0	0
TLE3	7090	broad.mit.edu	37	15	70368486	70368486	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:70368486C>T	uc002asl.2	-	3	565	c.264G>A	c.(262-264)gcG>gcA	p.A88A	TLE3_uc002ask.2_Silent_p.A16A|TLE3_uc010ukd.1_Silent_p.A75A|TLE3_uc010bil.1_Silent_p.A82A|TLE3_uc002asn.2_Silent_p.A82A|TLE3_uc002asm.2_Silent_p.A82A|TLE3_uc002asp.2_Silent_p.A82A|TLE3_uc002aso.2_Silent_p.A82A|TLE3_uc010bim.1_5'Flank	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	82	Gln-rich.				Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAGTCTCTTCGCAATCTCTG	0.423000														77			9		0	0	0.00010058	0	0
SGCZ	137868	broad.mit.edu	37	8	14022128	14022128	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:14022128C>G	uc003wwq.3	-	4	1168	c.508G>C	c.(508-510)Gat>Cat	p.D170H	SGCZ_uc010lss.3_Missense_Mutation_p.D123H	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	157					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTAATCTCATCTTCATCTGCA	0.413000														44			5		0	0	0.000602214	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107044	107044	+	RNA	SNP	T	C	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrGL000211.1:107044T>C	uc003boa.3	+	3		c.743T>C								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		ACAAAGAAAATAGAACGCCTT	0.358000														111			6		0	0	0.000157383	0	0
GPR50	9248	broad.mit.edu	37	X	150348809	150348809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:150348809C>T	uc010ntg.2	+	1	892	c.754C>T	c.(754-756)Cct>Tct	p.P252S	GPR50_uc011myc.2_Intron	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	252					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTGGTGCCCTATCAACGT	0.512000														55			10		0	0	0.000978159	0	0
TAGAP	117289	broad.mit.edu	37	6	159457477	159457477	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:159457477C>T	uc003qrz.3	-	9	1910	c.1578G>A	c.(1576-1578)gcG>gcA	p.A526A	TAGAP_uc011eft.2_Silent_p.A463A|TAGAP_uc003qsa.3_Silent_p.A348A	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	526					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCCCAGAGCCCGCGCTGAGGT	0.527000														51			9		0	0	0.000442599	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654957	161654957	+	RNA	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:161654957G>A	uc001gbc.3	-	0		c.86C>T								Homo sapiens ribosomal protein L31 pseudogene 11 (RPL31P11), non-coding RNA.																		GTTGATGGCAGAACGGCCCTT	0.547000														9			6		0	0	3.59834e-05	0	0
PTPN2	5771	broad.mit.edu	37	18	12794451	12794451	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr18:12794451C>T	uc002krp.3	-	8	1268	c.1074G>A	c.(1072-1074)aaG>aaA	p.K358K	PTPN2_uc002krn.3_Silent_p.K381K|PTPN2_uc002krl.3_Silent_p.K358K|PTPN2_uc002krm.3_Intron	NM_002828	NP_002819	P17706	PTN2_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.	358					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CTGTGGTGGCCTTTCTGTCCT	0.423000														22			11		0	0	0.000978159	0	0
SDF4	51150	broad.mit.edu	37	1	1153955	1153955	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:1153955G>A	uc001adh.4	-	5	1124	c.795C>T	c.(793-795)acC>acT	p.T265T	SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_Silent_p.T265T|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	265	EF-hand 4.				UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GGTTCTCCACGGTGCCCACGG	0.592000														21			9		0	0	0.000274275	0	0
EYA1	2138	broad.mit.edu	37	8	72129059	72129059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:72129059G>A	uc003xyu.3	-	13	1868	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	EYA1_uc003xyt.4_Missense_Mutation_p.P377S|EYA1_uc003xyr.4_Missense_Mutation_p.P375S|EYA1_uc010lzf.3_Missense_Mutation_p.P337S|EYA1_uc003xys.4_Missense_Mutation_p.P410S|EYA1_uc011lfe.2_Missense_Mutation_p.P404S|EYA1_uc003xyv.3_Missense_Mutation_p.P288S	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	410					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCTGCAGCAGGAAAGCCATCT	0.433000														49			18		0	0	0.00074312	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122474149	122474149	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:122474149G>A	uc003efu.2	-	4	838	c.699C>T	c.(697-699)ttC>ttT	p.F233F	HSPBAP1_uc003efv.2_3'UTR	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	233	JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GAGCTTTCCGGAACTGAGGAA	0.418000														36			8		0	0	0.000274275	0	0
UNC13C	440279	broad.mit.edu	37	15	54685348	54685348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:54685348G>A	uc021smr.1	+	15	4810	c.4810G>A	c.(4810-4812)Gat>Aat	p.D1604N	UNC13C_uc021sms.1_Missense_Mutation_p.D1606N|UNC13C_uc002acl.3_Missense_Mutation_p.D436N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1606					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)		TATTGATGAGGATAAAACTGC	0.353000														21			4		0	0	0.000602214	0	0
THSD4	79875	broad.mit.edu	37	15	71447214	71447214	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:71447214C>T	uc002atb.1	+	1	121	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	14						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCTGTGTTTCCTTCTGCTGC	0.542000														50			9		0	0	0.000673444	0	0
XIST	7503	broad.mit.edu	37	X	73064974	73064974	+	RNA	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:73064974C>T	uc004ebm.1	-	0		c.7615G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TGGTTGTGGTCACATACAATT	0.498000														76			13		0	0	0.000151284	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822881	56822881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr12:56822881G>A	uc001slf.2	-	10	1258	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	TIMELESS_uc001slg.2_Missense_Mutation_p.H363Y	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	364					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGAAGCAGGTGATCCTGACAT	0.488000														14			5		0	0	0.000602214	0	0
LAMB3	3914	broad.mit.edu	37	1	209805978	209805978	+	Missense_Mutation	SNP	G	A	A	rs145575474		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:209805978G>A	uc001hhg.3	-	6	1162	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	LAMB3_uc009xco.3_Missense_Mutation_p.R258C|LAMB3_uc001hhh.3_Missense_Mutation_p.R258C|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.R194C	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	258	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.R258C(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGTGCGCAGCGATCAGCATGG	0.677000														28			10		0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9059369	9059369	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:9059369C>T	uc002mkp.3	-	2	28281	c.28077G>A	c.(28075-28077)agG>agA	p.R9359R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9361	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						TTGATTCTTTCCTTGTGAGGG	0.517000														68			5		0	0	0.000602214	0	0
NFXL1	152518	broad.mit.edu	37	4	47907310	47907310	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr4:47907310G>A	uc010igh.3	-	3	637	c.460C>T	c.(460-462)Caa>Taa	p.Q154*	NFXL1_uc003gxp.3_Nonsense_Mutation_p.Q154*|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Nonsense_Mutation_p.Q154*	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	154						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GCCCCTGCTTGAAAAGCTTCA	0.338000														72			7		0	0	0.000157383	0	0
CAPSL	133690	broad.mit.edu	37	5	35910623	35910623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:35910623C>T	uc003jjt.1	-	2	255	c.160G>A	c.(160-162)Gat>Aat	p.D54N	CAPSL_uc003jju.1_Missense_Mutation_p.D54N	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	54	EF-hand 1.					cytoplasm	calcium ion binding	p.D53G(1)|p.D53Y(1)|p.D53C(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CGATTATTATCGTCATCCATA	0.313000														33			6		0	0	3.59834e-05	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14424142	14424142	+	RNA	SNP	C	T	T	rs1054926	by1000genomes	TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr21:14424142C>T	uc002yiy.3	+	4		c.2957C>T			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GAACACCTGACGAGGCTGCAC	0.443000														14			4		0	0	0.000602214	0	0
ISG20	3669	broad.mit.edu	37	15	89182723	89182723	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:89182723C>T	uc002bmv.1	+	1	419	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ISG20_uc002bmu.1_Intron|ISG20_uc010upn.1_Non-coding_Transcript	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa (ISG20), mRNA.	42					DNA catabolic process, exonucleolytic|RNA catabolic process|cell proliferation|response to virus|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|RNA binding|exoribonuclease II activity|metal ion binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			ACGACAAGTTCATCCGGCCTG	0.647000														28			6		0	0	3.59834e-05	0	0
KRT15	3866	broad.mit.edu	37	17	39672200	39672200	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:39672200C>T	uc002hwy.3	-	4	1154	c.963G>A	c.(961-963)gaG>gaA	p.E321E	KRT15_uc002hwz.3_Silent_p.E223E|KRT15_uc002hxa.3_Silent_p.E156E|KRT15_uc002hxb.1_Silent_p.E156E	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	321	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGTCTGTGATCTCCGTCTTGC	0.597000														101			12		0	0	0.000151284	0	0
NPHS1	4868	broad.mit.edu	37	19	36321786	36321786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:36321786G>A	uc002oby.3	-	27	3710	c.3554C>T	c.(3553-3555)cCg>cTg	p.P1185L		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1185	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.S1186fs*10(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCTCCAGACGGGGGGTACGT	0.542000														63			7		0	0	8.12818e-05	0	0
VASH2	79805	broad.mit.edu	37	1	213134585	213134585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:213134585G>A	uc001hjy.3	+	1	558	c.354G>A	c.(352-354)atG>atA	p.M118I	VASH2_uc001hju.2_Missense_Mutation_p.M118I|VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Missense_Mutation_p.M53I|VASH2_uc010ptn.2_Missense_Mutation_p.M14I|VASH2_uc001hjw.3_Missense_Mutation_p.M118I	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA.	118					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGAATTACATGAAGACCCTAC	0.542000														83			23		0	0	0.00047179	0	0
GPR98	84059	broad.mit.edu	37	5	89990022	89990022	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:89990022G>A	uc003kju.3	+	32	7545	c.7449G>A	c.(7447-7449)agG>agA	p.R2483R	GPR98_uc003kjt.3_Silent_p.R189R|GPR98_uc003kjv.3_Silent_p.R83R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2483					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGACCTACAGGAAAAACATGA	0.493000														33			4		0	0	0.00024832	0	0
HSF5	124535	broad.mit.edu	37	17	56565428	56565428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:56565428C>T	uc002iwi.1	-	0	332	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	70						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGAAGAGCTCGGGCTcggcc	0.721000														22			5		0	0	3.59834e-05	0	0
TNR	7143	broad.mit.edu	37	1	175362984	175362984	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:175362984T>C	uc001gkp.1	-	3	1369	c.1288A>G	c.(1288-1290)Acc>Gcc	p.T430A	TNR_uc009wwu.1_Missense_Mutation_p.T430A|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	430	Fibronectin type-III 2.				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)					ACCTCCACGGTGGTCTCTGTG	0.493000														99			11		0	0	0.000673444	0	0
ABCB1	5243	broad.mit.edu	37	7	87196132	87196132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:87196132C>T	uc003uiz.2	-	6	992	c.499G>A	c.(499-501)Gat>Aat	p.D167N	ABCB1_uc011khc.2_Intron	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	167	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCCCCAACATCGTGCACATCA	0.383000														45			5		0	0	0.000602214	0	0
CXXC1	30827	broad.mit.edu	37	18	47808968	47808968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr18:47808968G>A	uc002leq.4	-	14	2699	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	MBD1_uc002leg.3_5'Flank|MBD1_uc010dow.2_5'Flank|MBD1_uc010xdi.2_5'Flank|MBD1_uc010xdj.2_5'Flank|MBD1_uc002lel.4_5'Flank|MBD1_uc002len.3_5'Flank|MBD1_uc002leh.4_5'Flank|MBD1_uc002lei.4_5'Flank|MBD1_uc002lej.4_5'Flank|MBD1_uc002lek.4_5'Flank|MBD1_uc002lem.4_5'Flank|MBD1_uc021ukd.1_5'Flank|MBD1_uc021uke.1_5'Flank|MBD1_uc010xdk.2_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.4_Missense_Mutation_p.R513C|CXXC1_uc002ler.4_Missense_Mutation_p.R660C|CXXC1_uc010doy.3_3'UTR	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	656					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GAGGCTCAGCGGTCGGCACTG	0.652000														53			20		0	0	0.000295444	0	0
TMEM132E	124842	broad.mit.edu	37	17	32959919	32959919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:32959919C>T	uc002hif.3	+	6	1737	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	470						integral to membrane		p.L469L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCTATCCTCCCCGACCGGAGG	0.592000														47			10		0	0	0.000673444	0	0
RASGRF1	5923	broad.mit.edu	37	15	79291148	79291148	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:79291148C>T	uc002beq.3	-	18	3189	c.2814G>A	c.(2812-2814)agG>agA	p.R938R	RASGRF1_uc002bep.3_Silent_p.R922R|RASGRF1_uc010blm.1_Silent_p.R847R|RASGRF1_uc002ber.4_Silent_p.R922R|RASGRF1_uc010unh.1_Silent_p.R333R|RASGRF1_uc002beo.3_Silent_p.R154R	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	940					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTCTCCATTCCTCTGGTCTG	0.577000														28			5		0	0	0.000602214	0	0
PKHD1	5314	broad.mit.edu	37	6	51774107	51774107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:51774107G>A	uc003pah.1	-	39	6932	c.6656C>T	c.(6655-6657)tCa>tTa	p.S2219L	PKHD1_uc010jzn.1_Missense_Mutation_p.S244L|PKHD1_uc003pai.3_Missense_Mutation_p.S2219L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2219					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGAGTGAGTGAGCTCAGATG	0.512000														47			10		0	0	0.000978159	0	0
HTATSF1	27336	broad.mit.edu	37	X	135584969	135584969	+	Silent	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:135584969G>A	uc004ezw.3	+	5	1025	c.603G>A	c.(601-603)ttG>ttA	p.L201L	HTATSF1_uc004ezx.3_Silent_p.L201L	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	201	RRM 1.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAAAACTTTTGGATGAAGATG	0.328000														64			10		0	0	0.00010058	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960047	73960047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:73960047G>A	uc004eby.3	-	2	4962	c.4345C>T	c.(4345-4347)Cgt>Tgt	p.R1449C		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1449					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATTTGTGACGATACAACTTT	0.453000														67			12		0	0	0.000151284	0	0
AKNAD1	254268	broad.mit.edu	37	1	109363229	109363229	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:109363229C>T	uc001dwa.3	-	13	2456	c.2187G>A	c.(2185-2187)cgG>cgA	p.R729R	AKNAD1_uc001dwb.3_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	729										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GAGAACAGATCCGTTTGGGTT	0.333000														40			12		0	0	0.000151284	0	0
LOC645752	645752	broad.mit.edu	37	15	78211577	78211577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:78211577C>T	uc010bky.2	-	10	954	c.190G>A	c.(190-192)Gag>Aag	p.E64K						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		CCTTCCACCTCCTGCCTCAGG	0.552000														70			10		0	0	0.000673444	0	0
CCHCR1	54535	broad.mit.edu	37	6	31124632	31124632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:31124632G>A	uc003nsp.4	-	2	562	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	CCHCR1_uc011dne.2_Missense_Mutation_p.P36S|CCHCR1_uc003nsq.4_Intron|CCHCR1_uc003nsr.4_Missense_Mutation_p.P36S|CCHCR1_uc010jsk.1_Missense_Mutation_p.P36S|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	36					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGGACCAGGGGAATGTCTGAG	0.562000														59			10		0	0	0.000978159	0	0
TEX13A	56157	broad.mit.edu	37	X	104464008	104464008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:104464008C>T	uc004ema.3	-	3	974	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Silent_p.Q290Q	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	290						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GGAAGAGGTTCTGATGAGGCT	0.522000														43			6		0	0	3.59834e-05	0	0
CXorf1	9142	broad.mit.edu	37	X	144909378	144909378	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:144909378T>A	uc004fch.3	+	0	451	c.183T>A	c.(181-183)ttT>ttA	p.F61L		NM_004709	NP_004700	O96002	CX001_HUMAN	Homo sapiens chromosome X open reading frame 1 (CXorf1), mRNA.	61										central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTTATTTTTATCTTCCACA	0.353000														61			8		0	0	0.000673444	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665948	19665948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:19665948G>A	uc002wrl.3	+	11	1464	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	423	Poly-Glu.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						gaatgatgaggaggaagagga	0.527000														38			8		0	0	0.000157383	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049632	69049632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:69049632C>T	uc010fdg.3	+	9	1780	c.1361C>T	c.(1360-1362)gCt>gTt	p.A454V	ARHGAP25_uc010yql.2_Missense_Mutation_p.A414V|ARHGAP25_uc002sew.3_Missense_Mutation_p.A446V|ARHGAP25_uc002sex.3_Missense_Mutation_p.A447V	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	453					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S453R(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TTGACATCAGCTTTTCAGGGT	0.478000														50			17		0	0	0.000566183	0	0
ANK3	288	broad.mit.edu	37	10	61819111	61819111	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr10:61819111G>A	uc001jky.3	-	40	13011	c.12673C>T	c.(12673-12675)Cga>Tga	p.R4225*	ANK3_uc001jkw.3_Nonsense_Mutation_p.R849*|ANK3_uc009xpa.3_Nonsense_Mutation_p.R849*|ANK3_uc001jkx.3_Nonsense_Mutation_p.R893*|ANK3_uc010qih.2_Nonsense_Mutation_p.R1716*|ANK3_uc001jkz.4_Nonsense_Mutation_p.R1709*|ANK3_uc001jkv.3_Nonsense_Mutation_p.R248*	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4225					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCATCCAGTCGATCTAGTAAC	0.398000														72			9		0	0	0.000442599	0	0
DBR1	51163	broad.mit.edu	37	3	137892421	137892422	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:137892421_137892422CC>AA	uc003erv.3	-	1	398_399	c.244_245GG>TT	c.(244-246)ggg>TTg	p.G82L	DBR1_uc003eru.3_Missense_Mutation_p.G31L	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	82						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATGGTTTCCCCCAATGAAGAGC	0.411000														305			9		0	0	6.4e-05	0	0
SLC24A3	57419	broad.mit.edu	37	20	19673952	19673952	+	Silent	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:19673952C>T	uc002wrl.3	+	12	1571	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	458						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGCTGAGTTTCGTCTTATACT	0.458000											OREG0025804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			5		0	0	3.59834e-05	0	0
ZFP112	7771	broad.mit.edu	37	19	44833712	44833712	+	Missense_Mutation	SNP	G	A	A	rs144019017		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:44833712G>A	uc010xwy.2	-	4	785	c.667C>T	c.(667-669)Cat>Tat	p.H223Y	ZFP112_uc010ejj.3_Missense_Mutation_p.H206Y|ZFP112_uc002ozc.4_Missense_Mutation_p.H200Y|ZFP112_uc010xwz.2_Missense_Mutation_p.H205Y	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H200Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TTACAGAAATGATTTTTCATG	0.393000														66			7		0	0	8.12818e-05	0	0
C15orf2	23742	broad.mit.edu	37	15	24922338	24922338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:24922338C>T	uc001ywo.3	+	0	1798	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	442	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTGCCTATCCCTCCACTTTC	0.527000														55			10		0	0	0.000442599	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258248	25258248	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:25258248A>T	uc002dod.4	-	4	1676	c.1269T>A	c.(1267-1269)gaT>gaA	p.D423E	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.D219E|ZKSCAN2_uc002doe.2_Missense_Mutation_p.D423E	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	423					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCAACAAAGCATCCATGTCCT	0.488000														77			15		0	0	0.000219431	0	0
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	Splice_Site	INS	-	T	T	rs33924686	by1000genomes	TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:102738795_102738796insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													---	6	---	---	3	---					
SLC6A14	11254	broad.mit.edu	37	X	115588915	115588915	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:115588915delA	uc004eqi.3	+	12	1886	c.1755delA	c.(1753-1755)atafs	p.I585fs		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	585					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TCATAAAAATAATTCAGGCTA	0.333													---	151	---	---	23	---