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
FAT3	120114	broad.mit.edu	37	11	92532891	92532892	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:92532891_92532892GG>TT	uc001pdj.4	+	8	6729_6730	c.6712_6713GG>TT	c.(6712-6714)ggg>TTg	p.G2238L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2238	Cadherin 20.				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)				CTTTGACACTGGGGTCCTGAAA	0.450000										TCGA Ovarian(4;0.039)				479			12		0	0	6.4e-05	0	0
EHMT2	10919	broad.mit.edu	37	6	31848861	31848862	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:31848861_31848862CC>AA	uc003nxz.1	-	25	3215_3216	c.3205_3206GG>TT	c.(3205-3207)ggg>TTg	p.G1069L	EHMT2_uc003nxx.1_Missense_Mutation_p.G267L|EHMT2_uc003nxy.1_Missense_Mutation_p.G867L|EHMT2_uc011don.1_Missense_Mutation_p.G1092L|EHMT2_uc003nya.1_Missense_Mutation_p.G1035L|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	1069	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GATCAGCTCCCCGACATACCTG	0.535000														246			9		0	0	6.4e-05	0	0
SPTB	6710	broad.mit.edu	37	14	65260293	65260293	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr14:65260293G>A	uc001xht.3	-	12	2139	c.2088C>T	c.(2086-2088)atC>atT	p.I696I	SPTB_uc001xhr.3_Silent_p.I696I|SPTB_uc001xhs.3_Silent_p.I696I|SPTB_uc001xhu.3_Silent_p.I696I	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	696					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTCCTGGAAGATCTGCTCCA	0.587000														13			15		0	0	0.000422831	0	0
PDE4A	5141	broad.mit.edu	37	19	10574557	10574558	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:10574557_10574558CC>TT	uc002moj.2	+	13	1940_1941	c.1832_1833CC>TT	c.(1831-1833)gcc>gTT	p.A611V	PDE4A_uc021uow.1_Missense_Mutation_p.A589V|PDE4A_uc002mok.2_Missense_Mutation_p.A585V|PDE4A_uc002mol.2_Missense_Mutation_p.A550V|PDE4A_uc002mom.2_Missense_Mutation_p.A372V|PDE4A_uc002moo.2_Missense_Mutation_p.A277V	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	611	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CGCATCATGGCCGAGTTCTTCC	0.614000														32			20		0	0	6.4e-05	0	0
NXF3	56000	broad.mit.edu	37	X	102339391	102339391	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:102339391T>C	uc004eju.3	-	2	301	c.230A>G	c.(229-231)aAa>aGa	p.K77R	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.K77R|NXF3_uc011mrx.1_5'UTR	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	77						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AAAACTGCCTTTCCGATTATA	0.433000														122			50		0	0	0.000147903	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262893	159262893	+	RNA	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:159262893G>A	uc003qrw.3	-	2		c.451C>T								Homo sapiens oligosaccharyltransferase complex subunit pseudogene 1 (OSTCP1), non-coding RNA.																		CATCGGTCCAGGAATATGAAA	0.393000														64			34		0	0	0.000109025	0	0
SLC22A7	10864	broad.mit.edu	37	6	43270055	43270055	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:43270055C>T	uc021yzt.1	+	7	1278	c.1179C>T	c.(1177-1179)gtC>gtT	p.V393V	SLC22A7_uc010jyl.1_Silent_p.V394V|SLC22A7_uc003ous.3_Silent_p.V391V|SLC22A7_uc003out.3_Silent_p.V391V	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	393						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGCTGCTGGTCTACTTGTCGG	0.632000														10			8		0	0	0.000274275	0	0
ACE	1636	broad.mit.edu	37	17	61568584	61568584	+	Silent	SNP	G	A	A	rs145809210	byFrequency	TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr17:61568584G>A	uc002jau.2	+	18	2788	c.2754G>A	c.(2752-2754)agG>agA	p.R918R	ACE_uc010wpj.2_Silent_p.R344R|ACE_uc010ddv.2_Silent_p.R145R|ACE_uc002jav.2_Silent_p.R344R|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.R164R	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	918	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.R918K(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGACGCCCAGGAGGATGTTTA	0.617000														8			7		0	0	0.000157383	0	0
CDH20	28316	broad.mit.edu	37	18	59212366	59212367	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr18:59212366_59212367GG>AA	uc010dps.1	+	8	1789_1790	c.1637_1638GG>AA	c.(1636-1638)agg>aAA	p.R546K	CDH20_uc002lif.2_Missense_Mutation_p.R540K	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	546	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTTACCATAAGGGACAACCAAG	0.490000														73			32		0	0	6.4e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	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					48			45		0	0	0.000147903	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694899	219694899	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:219694899C>T	uc002vjb.1	-	3	454	c.435G>A	c.(433-435)tgG>tgA	p.W145*	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Nonsense_Mutation_p.W145*|PRKAG3_uc010zko.1_Nonsense_Mutation_p.W141*	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	145					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCACACTCCCAGGCCTCTG	0.637000														21			14		0	0	0.000151284	0	0
ADSSL1	122622	broad.mit.edu	37	14	105201410	105201410	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr14:105201410C>T	uc001ypd.3	+	1	320	c.246C>T	c.(244-246)ttC>ttT	p.F82F	ADSSL1_uc001ype.3_Silent_p.F125F|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	82					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGTACGACTTCCACCTGCTGC	0.612000														10			8		0	0	0.000274275	0	0
RAB1A	5861	broad.mit.edu	37	2	65315800	65315800	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:65315800G>A	uc002sdm.3	-	5	831	c.445C>T	c.(445-447)Ccg>Tcg	p.P149S	RAB1A_uc002sdn.3_Missense_Mutation_p.P73S|RAB1A_uc010yqe.2_Missense_Mutation_p.P117S|RAB1A_uc002sdo.3_Missense_Mutation_p.P85S	NM_004161	NP_004152	P62820	RAB1A_HUMAN	Homo sapiens RAB1A, member RAS oncogene family (RAB1A), transcript variant 1, mRNA.	149					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	GTP binding|GTPase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						TCCAAAAACGGAATTCCAAGG	0.393000														10			5		0	0	1.23904e-05	0	0
DCC	1630	broad.mit.edu	37	18	51025778	51025778	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr18:51025778C>T	uc002lfe.2	+	26	4625	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DCC_uc010dpf.2_Nonsense_Mutation_p.R970*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1337					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTGTGTTCGACCAACTCA	0.532000														56			30		0	0	0.000339439	0	0
STAT4	6775	broad.mit.edu	37	2	191894583	191894583	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:191894583G>A	uc002usm.2	-	23	2545	c.2230C>T	c.(2230-2232)Cct>Tct	p.P744S	STAT4_uc002usn.2_Missense_Mutation_p.P744S	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	744					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GCAGAATAAGGAGACTTCATC	0.323000														127			52		0	0	0.000147903	0	0
ADCY8	114	broad.mit.edu	37	8	131859680	131859680	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr8:131859680G>A	uc003ytd.4	-	10	2748	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	831					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCTGGGTAGGAGCAGATATC	0.413000										HNSCC(32;0.087)				50			26		0	0	0.000147802	0	0
KDM5A	5927	broad.mit.edu	37	12	402015	402016	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:402015_402016GG>AA	uc001qif.1	-	26	5138_5139	c.4775_4776CC>TT	c.(4774-4776)ccc>cTT	p.P1592L	KDM5A_uc021qsr.1_Missense_Mutation_p.P143L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1592					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CATACTTTGAGGGGATGTCCAG	0.480000			T	NUP98	AML									86			39		0	0	6.4e-05	0	0
IRAK1	3654	broad.mit.edu	37	X	153284759	153284759	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:153284759G>A	uc004fjs.1	-	2	404	c.325C>T	c.(325-327)Ccg>Tcg	p.P109S	IRAK1_uc004fjr.1_Missense_Mutation_p.P109S|IRAK1_uc004fjt.1_Missense_Mutation_p.P109S|IRAK1_uc004fju.2_Missense_Mutation_p.P135S	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	109					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGGGACGGAAGCGGGGCG	0.741000														15			7		0	0	0.000442599	0	0
FAM193B	54540	broad.mit.edu	37	5	176951979	176951979	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:176951979G>A	uc003mhu.3	-	5	1592	c.1503C>T	c.(1501-1503)ggC>ggT	p.G501G	FAM193B_uc003mhr.3_Silent_p.G5G|FAM193B_uc021yiw.1_Silent_p.G127G|FAM193B_uc003mht.3_Silent_p.G127G|FAM193B_uc003mhv.3_Silent_p.G127G|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	177										kidney(1)|large_intestine(3)	4						CCTTAGAGAAGCCATTGCTGT	0.557000														29			16		0	0	5.01169e-05	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881273	142881273	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:142881273G>A	uc011ksw.2	+	0	762	c.762G>A	c.(760-762)atG>atA	p.M254I		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	254					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ACCCCAGCATGGAGGCTCACA	0.488000														113			31		0	0	0.000191422	0	0
FLCN	201163	broad.mit.edu	37	17	17122455	17122455	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr17:17122455G>A	uc002gra.4	-	8	1444	c.940C>T	c.(940-942)Cca>Tca	p.P314S	PLD6_uc010cpn.3_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	314					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTACTCTCTGGCAACACAGGG	0.562000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					58			71		0	0	0.000147903	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468710	35468711	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr21:35468710_35468711CG>AT	uc021wir.1	+	0	1213_1214	c.1213_1214CG>AT	c.(1213-1215)cgg>ATg	p.R405M	SLC5A3_uc002yto.3_Missense_Mutation_p.R405M|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	405						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CGCAAGCTCCCGGGAGTTAATG	0.475000														489			13		0	0	6.4e-05	0	0
PCDH10	57575	broad.mit.edu	37	4	134072765	134072765	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr4:134072765G>A	uc003iha.3	+	0	2296	c.1470G>A	c.(1468-1470)cgG>cgA	p.R490R	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Silent_p.R490R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	490	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCACCGACCGGGATGAGGGCG	0.592000														44			25		0	0	0.00047179	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262349	61262349	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr18:61262349G>A	uc010xep.2	+	6	897	c.729G>A	c.(727-729)ggG>ggA	p.G243G	SERPINB13_uc002ljc.3_Silent_p.G234G|SERPINB13_uc002ljd.3_Silent_p.G98G|SERPINB13_uc010xeq.2_Silent_p.G55G|SERPINB13_uc010xer.2_Silent_p.G55G	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	234					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAATTCTAGGGATTCCATATA	0.423000														63			39		0	0	0.000270559	0	0
SCN2A	6326	broad.mit.edu	37	2	166231233	166231233	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:166231233C>T	uc002udc.3	+	21	4301	c.4011C>T	c.(4009-4011)atC>atT	p.I1337I	SCN2A_uc002udd.3_Silent_p.I1337I|SCN2A_uc002ude.3_Silent_p.I1337I	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1337					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTCCATCTATCATGAATGTAC	0.343000														73			31		0	0	0.000409698	0	0
DNAH5	1767	broad.mit.edu	37	5	13716799	13716799	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:13716799C>T	uc003jfd.2	-	74	12748	c.12706_splice	c.e74-1	p.G4236_splice	DNAH5_uc003jfc.2_Splice_Site_p.G404_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4236					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGAGACACCCTGGGAAATT	0.398000									Kartagener syndrome					17			22		0	0	7.16444e-05	0	0
PHF2	5253	broad.mit.edu	37	9	96418822	96418822	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:96418822C>T	uc004aub.3	+	8	1239	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	PHF2_uc011lug.1_Silent_p.P247P	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	364					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CTCAGTTTCCCAACTTTGAAA	0.552000														42			178		0	0	0.000147903	0	0
ODZ4	26011	broad.mit.edu	37	11	78380792	78380792	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:78380792C>T	uc001ozl.4	-	31	7061	c.6598G>A	c.(6598-6600)Ggc>Agc	p.G2200S	ODZ4_uc001ozk.4_Missense_Mutation_p.G425S	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2200					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGCAGCTGGCCGTCAGCATCA	0.542000														37			21		0	0	0.000132079	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112778263	112778263	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:112778263G>A	uc004bei.2	+	7	1414	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.E176K|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.E176K|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCTGCTAAAGGAAGGTGAGTC	0.453000														24			24		0	0	0.000117367	0	0
WNT1	7471	broad.mit.edu	37	12	49375301	49375301	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:49375301G>A	uc001rsu.3	+	3	1189	c.991G>A	c.(991-993)Ggc>Agc	p.G331S		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	331					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of DNA damage checkpoint|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of Notch signaling pathway|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		GCTCTGCTGCGGCAGGGGCCA	0.711000														0			2		0	0	6.4e-05	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349567	65349567	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:65349567C>T	uc001oeo.4	+	8	1689	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	475										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GATGAGGCTCCCTCAGGCCTG	0.687000														15			15		0	0	0.000308642	0	0
C6orf165	154313	broad.mit.edu	37	6	88173915	88173915	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:88173915G>A	uc003plv.3	+	12	1939	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Missense_Mutation_p.E418K|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	606										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGGAAAGAGCGAAATCACCGA	0.458000														19			17		0	0	5.01169e-05	0	0
SSTR1	6751	broad.mit.edu	37	14	38678811	38678811	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr14:38678811C>T	uc021rsi.1	+	0	217	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	SSTR1_uc001wul.1_Silent_p.L73L	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	73					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCTGGTGGGGCTGTGTGGGAA	0.567000														36			18		0	0	7.07596e-05	0	0
EPB41L2	2037	broad.mit.edu	37	6	131201339	131201339	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:131201339G>A	uc003qch.2	-	12	2023	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	EPB41L2_uc003qce.1_Intron|EPB41L2_uc003qcf.1_Non-coding_Transcript|EPB41L2_uc010kfl.2_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Intron|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcj.1_5'Flank	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	614	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TACTCTCAAGGAATTTTTCTG	0.383000														17			5		0	0	1.23904e-05	0	0
RGR	5995	broad.mit.edu	37	10	86018377	86018377	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr10:86018377G>T	uc001kdd.1	+	6	908	c.870G>T	c.(868-870)gaG>gaT	p.E290D	RGR_uc001kdc.1_Missense_Mutation_p.E286D|RGR_uc001kde.1_Missense_Mutation_p.E248D	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	286					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AGAAGAGGGAGAAGGACCGAA	0.602000														6			15		6.31663e-08	1.73707e-06	0.000308642	1	0
CR2	1380	broad.mit.edu	37	1	207644140	207644140	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:207644140C>T	uc001hfw.3	+	6	1400	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V	CR2_uc001hfv.3_Silent_p.V427V|CR2_uc009xch.3_Silent_p.V427V|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	427	Sushi 7.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GACACATGGTCCGCTTTGACC	0.443000														13			51		0	0	0.000147903	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	G	G	rs141732548	by1000genomes	TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000														51			4		0	0	3.59834e-05	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174200433	174200433	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:174200433C>T	uc001gjx.3	+	3	759	c.482C>T	c.(481-483)tCc>tTc	p.S161F	RABGAP1L_uc009wwq.2_Missense_Mutation_p.S161F|RABGAP1L_uc001gjw.3_Missense_Mutation_p.S124F	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	161	PID.				regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGAAATCTTCCAGTCAATAC	0.383000														38			109		0	0	0.000147903	0	0
SPAM1	6677	broad.mit.edu	37	7	123594215	123594215	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:123594215G>A	uc003vle.3	+	2	1030	c.591G>A	c.(589-591)aaG>aaA	p.K197K	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.K197K|SPAM1_uc022aks.1_Silent_p.K197K|SPAM1_uc003vlf.4_Silent_p.K197K|SPAM1_uc010lku.3_Silent_p.K197K	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	197					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGGCAGGGAAGGATTTCCTGG	0.373000														73			26		0	0	0.000147802	0	0
SEL1L3	23231	broad.mit.edu	37	4	25835070	25835070	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr4:25835070C>T	uc003gru.4	-	4	1134	c.982_splice	c.e4+1	p.G328_splice		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	328						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTATACTCACCCTCTTCCGTA	0.373000														34			10		0	0	0.00010058	0	0
MST1P9	11223	broad.mit.edu	37	1	17083787	17083787	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:17083787G>A	uc010ock.2	-	14	2010	c.2010C>T	c.(2008-2010)gcC>gcT	p.A670A	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.A270A					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GCGTGAAGACGGCTGGCCAGC	0.552000														34			5		0	0	3.86212e-05	0	0
FFAR3	2865	broad.mit.edu	37	19	35850670	35850670	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:35850670G>A	uc002nzd.3	+	1	953	c.878G>A	c.(877-879)aGg>aAg	p.R293K	FFAR3_uc021usm.1_Missense_Mutation_p.R293K	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	293						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTGCTGAGGAGGTTGTGTGGG	0.592000														37			6		0	0	0.000279167	0	0
ZNF280C	55609	broad.mit.edu	37	X	129370208	129370208	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:129370208G>A	uc004evm.3	-	7	954	c.751C>T	c.(751-753)Cct>Tct	p.P251S	ZNF280C_uc010nrf.2_Missense_Mutation_p.P251S	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D250E(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TATTTCAAAGGATCCAAAAGA	0.299000														101			30		0	0	8.91981e-05	0	0
MUC1	4582	broad.mit.edu	37	1	155160286	155160286	+	Silent	SNP	G	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:155160286G>T	uc021pap.1	-	5	1092	c.1020C>A	c.(1018-1020)acC>acA	p.T340T	MUC1_uc001fhz.3_Silent_p.T36T|MUC1_uc001fhy.3_Silent_p.T36T|MUC1_uc010pfb.2_Silent_p.T36T|MUC1_uc010pfh.2_Silent_p.T182T|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Silent_p.T182T|MUC1_uc010pfj.2_Silent_p.T206T|MUC1_uc010pfk.2_Non-coding_Transcript|MUC1_uc010pfl.2_Non-coding_Transcript|MUC1_uc010pfc.2_Non-coding_Transcript|MUC1_uc009wph.3_Silent_p.T36T|MUC1_uc010pfe.2_Non-coding_Transcript|MUC1_uc009wpi.3_Silent_p.T36T|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Silent_p.T36T|MUC1_uc001fiq.3_Silent_p.T36T|MUC1_uc009wqa.3_Silent_p.T194T|MUC1_uc010pfn.2_Silent_p.T111T|MUC1_uc009wpn.3_Silent_p.T120T|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Silent_p.T120T|MUC1_uc009wqc.3_Silent_p.T108T|MUC1_uc009wqd.3_Silent_p.T132T|MUC1_uc001fia.3_Silent_p.T111T|MUC1_uc009wqb.3_Silent_p.T36T|MUC1_uc009wpx.3_Silent_p.T95T|MUC1_uc010pfq.2_Silent_p.T108T|MUC1_uc001fid.3_Silent_p.T86T|MUC1_uc001fit.3_Silent_p.T36T|MUC1_uc009wpz.3_Silent_p.T138T|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Silent_p.T129T|MUC1_uc009wpo.3_Silent_p.T73T|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Silent_p.T129T|MUC1_uc009wpk.3_Silent_p.T58T|MUC1_uc010pfs.2_Non-coding_Transcript|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Silent_p.T331T|MUC1_uc009wqg.3_Silent_p.T67T|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Silent_p.T85T|MUC1_uc009wps.3_Silent_p.T94T|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Silent_p.T97T|MUC1_uc009wpq.3_Silent_p.T99T|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	1111	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGACATTGATGGTACCTTCTC	0.537000			T	IGH@	B-NHL									5			29		2.12542e-12	5.96258e-11	0.000147802	1	0
CARTPT	9607	broad.mit.edu	37	5	71016376	71016376	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:71016376G>A	uc003kbv.2	+	2	416	c.285G>A	c.(283-285)agG>agA	p.R95R		NM_004291	NP_004282	Q16568	CART_HUMAN	Homo sapiens CART prepropeptide (CARTPT), mRNA.	95					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	AAGGGGCAAGGATCGGGAAGC	0.532000														18			6		0	0	3.59834e-05	0	0
THBS2	7058	broad.mit.edu	37	6	169637839	169637839	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:169637839G>A	uc003qwt.3	-	8	1429	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	394	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACACGTCACGGAGCACTGGGT	0.652000														16			13		0	0	0.000308642	0	0
CLCA1	1179	broad.mit.edu	37	1	86959145	86959145	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:86959145G>T	uc001dlt.3	+	9	1803	c.1543G>T	c.(1543-1545)Gac>Tac	p.D515Y	CLCA1_uc001dls.1_Missense_Mutation_p.D454Y	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	515					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CGTGGGAAAGGACACTTTGTT	0.483000														9			49		7.06795e-37	2.02356e-35	0.000147903	1	0
FAM176C	59271	broad.mit.edu	37	21	33887456	33887456	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr21:33887456G>T	uc002ypr.1	+	7	1692	c.1282G>T	c.(1282-1284)Ggt>Tgt	p.G428C	FAM176C_uc010glw.1_Missense_Mutation_p.G425C|FAM176C_uc002yps.1_Non-coding_Transcript|FAM176C_uc002ypu.1_Missense_Mutation_p.G333C	NM_058187	NP_478067	P58658	CU063_HUMAN	Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA.	428						integral to membrane	sugar binding										GATGAACAGTGGTTTGGACAC	0.458000														123			7		7.48243e-07	2.03094e-05	0.000442599	1	0
PPT2	9374	broad.mit.edu	37	6	32122816	32122816	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:32122816G>T	uc003nzw.3	+	2	386	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W	PRRT1_uc003nzu.3_5'Flank|PRRT1_uc021yvi.1_5'Flank|PRRT1_uc021yvj.1_5'Flank|PRRT1_uc003nzv.3_5'Flank|PRRT1_uc021yvk.1_5'Flank|PPT2_uc003nzx.3_Missense_Mutation_p.G65W|PPT2_uc003nzz.3_Missense_Mutation_p.G65W|PPT2_uc021yvl.1_Intron|EGFL8_uc003nzy.2_Non-coding_Transcript|PPT2_uc010jtu.1_Missense_Mutation_p.G65W	NM_138717	NP_005146	Q9UMR5	PPT2_HUMAN	Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA.	65					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GACACACCCCGGGACTGTGGT	0.622000														177			8		0.000157383	0.0041902	0.000157383	1	0
ARAP1	116985	broad.mit.edu	37	11	72412700	72412700	+	Silent	SNP	G	T	T	rs145351119	byFrequency	TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:72412700G>T	uc001osu.3	-	15	2485	c.2296C>A	c.(2296-2298)Cgg>Agg	p.R766R	ARAP1_uc001osv.3_Silent_p.R766R|ARAP1_uc001osr.3_Silent_p.R526R|ARAP1_uc001oss.3_Silent_p.R521R|ARAP1_uc009yth.3_Silent_p.R460R|ARAP1_uc010rre.2_Silent_p.R521R	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	766	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCACCTTCCCGGGCCCGGCGG	0.637000														266			8		0.000274275	0.0072105	0.000274275	1	0
HJURP	55355	broad.mit.edu	37	2	234749971	234749971	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:234749971C>T	uc002vvg.3	-	7	1521	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	HJURP_uc010znd.2_Silent_p.L424L|HJURP_uc010zne.2_Silent_p.L393L	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	485					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AAGGTAAACTCAGCCTGCGGG	0.547000														41			26		0	0	0.000117367	0	0
SPAG8	26206	broad.mit.edu	37	9	35811380	35811380	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:35811380C>T	uc003zye.3	-	1	778	c.663G>A	c.(661-663)gtG>gtA	p.V221V	SPAG8_uc003zyg.3_Silent_p.V221V	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	221						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CCCGATCTGCCACCAGGTTTC	0.582000														32			88		0	0	0.000147903	0	0
DSCR10	259234	broad.mit.edu	37	21	39580475	39580475	+	RNA	SNP	C	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr21:39580475C>A	uc010gnt.2	+	2		c.597C>A								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		AGCCATGCTCCCGTGTCACTG	0.522000														276			13		0.00010058	0.00271241	0.00010058	1	0
SLC18A1	6570	broad.mit.edu	37	8	20004873	20004873	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr8:20004873C>T	uc011kyq.2	-	15	1831	c.1360G>A	c.(1360-1362)Gcc>Acc	p.A454T	SLC18A1_uc003wzm.3_Missense_Mutation_p.A454T|SLC18A1_uc011kyr.2_Intron|SLC18A1_uc003wzn.3_Missense_Mutation_p.A422T|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	454					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AAACCGATGGCCTTTACAATG	0.537000														12			18		0	0	0.000229342	0	0
TNPO3	23534	broad.mit.edu	37	7	128615931	128615931	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:128615931A>C	uc010lly.2	-	16	2625	c.2222T>G	c.(2221-2223)cTt>cGt	p.L741R	TNPO3_uc010llx.2_Missense_Mutation_p.L118R|TNPO3_uc003vol.2_Missense_Mutation_p.L707R|TNPO3_uc010llz.2_Missense_Mutation_p.L643R|TNPO3_uc003vom.2_Missense_Mutation_p.L641R	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	707					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTCATCCACAAGGATACTGCC	0.478000														26			22		0	0	0.000229342	0	0
DEAF1	10522	broad.mit.edu	37	11	654046	654046	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:654046G>A	uc001lqq.1	-	10	2202	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Silent_p.S428S	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	503					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGTTAACGCAGGACTGCTGCA	0.622000														14			12		0	0	6.40141e-05	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963454	73963454	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:73963454C>T	uc004eby.3	-	2	1555	c.938G>A	c.(937-939)cGa>cAa	p.R313Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	313					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						GGATTCATATCGAATTTTCAG	0.423000														131			34		0	0	0.000191422	0	0
TTN	7273	broad.mit.edu	37	2	179632581	179632581	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:179632581T>C	uc021vsy.1	-	39	9601	c.9376A>G	c.(9376-9378)Aag>Gag	p.K3126E	TTN_uc021vsz.1_Missense_Mutation_p.K3080E|TTN_uc021vta.1_Missense_Mutation_p.K3080E|TTN_uc021vtb.1_Missense_Mutation_p.K3080E|TTN_uc002unb.2_Missense_Mutation_p.K3126E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3126	Ig-like 18.						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)			ACTGTGTACTTCCCAGCATCA	0.448000														42			27		0	0	9.22233e-05	0	0
ZNF557	79230	broad.mit.edu	37	19	7083402	7083402	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:7083402C>T	uc002mga.3	+	7	1425	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	ZNF557_uc002mgb.3_Missense_Mutation_p.H307Y|ZNF557_uc002mgc.3_Missense_Mutation_p.H314Y	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CTATAGCATTCATACAGGGGA	0.473000														90			47		0	0	0.000147903	0	0
KCNJ6	3763	broad.mit.edu	37	21	39212975	39212975	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr21:39212975G>A	uc011aej.1	-	1	63	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	KCNJ6_uc002ywo.2_Silent_p.L4L	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	4					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GATTCTGTCAGCTTGGCCATT	0.338000														326			192		0	0	0.000147903	0	0
TIAM2	26230	broad.mit.edu	37	6	155469378	155469378	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:155469378G>A	uc003qqb.3	+	8	3211	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	TIAM2_uc003qqe.3_Silent_p.K646K|TIAM2_uc010kjj.3_Silent_p.K179K|TIAM2_uc003qqf.3_5'UTR|TIAM2_uc011efl.1_5'Flank|TIAM2_uc003qqg.3_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	646					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.K646N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCTTCAGAAGATAGACATGG	0.502000														25			19		0	0	0.000132079	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111976086	111976086	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:111976086C>T	uc004bdz.1	-	16	1941	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	549						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCAGGTGTTCCTGGACTCAG	0.502000														10			45		0	0	0.000147903	0	0
DNM2	1785	broad.mit.edu	37	19	10940994	10940994	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:10940994C>T	uc002mpt.2	+	19	2673	c.2483C>T	c.(2482-2484)cCg>cTg	p.P828L	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.P828L|DNM2_uc010dxl.2_Missense_Mutation_p.P828L|DNM2_uc002mpu.2_Missense_Mutation_p.P824L|DNM2_uc002mpv.2_Missense_Mutation_p.P824L|DNM2_uc002mpw.3_Missense_Mutation_p.P557L|DNM2_uc002mpx.1_Missense_Mutation_p.P184L	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	828	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TTCCCAGCCCCGCCTCAGATC	0.677000			"""F, N, Splice, Mis, O"""		ETP ALL									27			30		0	0	0.000279167	0	0
GRIA4	2893	broad.mit.edu	37	11	105774667	105774667	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:105774667C>T	uc001pix.2	+	7	1459	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L	GRIA4_uc001piu.1_Missense_Mutation_p.P338L|GRIA4_uc001piw.2_Missense_Mutation_p.P338L|GRIA4_uc009yxk.1_Missense_Mutation_p.P338L	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	338					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CCTGCTGCTCCATGGGGCCAG	0.423000														74			43		0	0	0.000106405	0	0
TP63	8626	broad.mit.edu	37	3	189526072	189526072	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:189526072G>A	uc003fry.2	+	3	425	c.336G>A	c.(334-336)acG>acA	p.T112T	TP63_uc003frx.2_Silent_p.T112T|TP63_uc003frz.2_Silent_p.T112T|TP63_uc010hzc.1_Silent_p.T112T|TP63_uc003fsa.2_Silent_p.T18T|TP63_uc003fsb.2_Silent_p.T18T|TP63_uc003fsc.2_Silent_p.T18T|TP63_uc003fsd.2_Silent_p.T18T|TP63_uc021xir.1_Silent_p.T18T|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_5'UTR	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	112					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T112M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CACAGTACACGAACCTGGGGC	0.547000										HNSCC(45;0.13)				14			22		0	0	9.22233e-05	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348096	180348096	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:180348096C>T	uc002unn.4	-	5	1177	c.573G>A	c.(571-573)acG>acA	p.T191T	ZNF385B_uc002unj.3_Silent_p.T89T|ZNF385B_uc002unl.3_Silent_p.T88T|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.T115T	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	191						nucleus	nucleic acid binding|zinc ion binding	p.T191T(2)|p.T191M(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTTATTTTTCGTTGCGTCTA	0.468000														30			19		0	0	0.000132079	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:41962602G>T	uc004aca.4	-	2		c.907C>A								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TTCTTTCTTTGTTTTTTTTCC	0.373000														29			14		2.35188e-11	6.55391e-10	7.07596e-05	1	0
INHBC	3626	broad.mit.edu	37	12	57843480	57843480	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:57843480G>A	uc001snv.1	+	1	861	c.734G>A	c.(733-735)aGg>aAg	p.R245K		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	245					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGAGGGTCCAGGATGTGCTGT	0.577000														20			21		0	0	0.000175454	0	0
NPAS3	64067	broad.mit.edu	37	14	34269592	34269592	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr14:34269592C>T	uc001wru.3	+	11	2143	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	NPAS3_uc001wrs.3_Silent_p.S680S|NPAS3_uc001wrv.3_Silent_p.S663S|NPAS3_uc001wrt.3_Silent_p.S661S	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ACTTCCCGTCCCCGCAGGGCG	0.726000														26			22		0	0	0.000295444	0	0
FGF23	8074	broad.mit.edu	37	12	4488628	4488629	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:4488628_4488629GG>AA	uc001qmq.1	-	0	266_267	c.120_121CC>TT	c.(118-123)atccac>atTTac	p.H41Y		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	41					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GTGTACAGGTGGATCAGGCCAC	0.604000														42			22		0	0	6.4e-05	0	0
CD163	9332	broad.mit.edu	37	12	7639175	7639175	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:7639175G>A	uc001qsz.3	-	9	2506	c.2378C>T	c.(2377-2379)tCc>tTc	p.S793F	CD163_uc001qta.3_Missense_Mutation_p.S793F|CD163_uc009zfw.2_Missense_Mutation_p.S826F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	793	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAAATGCGGGATTCTTTTCC	0.512000														102			78		0	0	0.000147903	0	0
FLG	2312	broad.mit.edu	37	1	152277128	152277128	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:152277128C>T	uc001ezu.1	-	2	10270	c.10234G>A	c.(10234-10236)Gga>Aga	p.G3412R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3412	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGGATCCTTGTCTTCGT	0.592000									Ichthyosis					24			7		0	0	0.00010058	0	0
SPEF2	79925	broad.mit.edu	37	5	35793345	35793345	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:35793345C>T	uc003jjo.3	+	31	4750	c.4639C>T	c.(4639-4641)Ccc>Tcc	p.P1547S	SPEF2_uc003jjp.1_Missense_Mutation_p.P1033S|SPEF2_uc003jjr.3_Missense_Mutation_p.P602S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1547					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATGCCTTGGCCCATTCCCTT	0.468000														59			30		0	0	0.000279167	0	0
ZNF322	79692	broad.mit.edu	37	9	99961415	99961415	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:99961415A>G	uc004axd.2	-	0	438	c.379T>C	c.(379-381)Tat>Cat	p.Y127H	BC070371_uc004axb.2_5'Flank|BC070371_uc004axc.1_5'Flank|AK309476_uc010msl.1_Intron	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 2, mRNA.	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										TCACATGTATAGAATTTTTTA	0.403000														36			125		0	0	0.000147903	0	0
TEKT3	64518	broad.mit.edu	37	17	15234335	15234335	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr17:15234335C>T	uc002gon.3	-	2	755	c.568G>A	c.(568-570)Gcc>Acc	p.A190T		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	190					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.E189K(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGAAGAGGGGCTTCAGTCTCC	0.368000														9			15		0	0	5.01169e-05	0	0
SEC14L4	284904	broad.mit.edu	37	22	30886142	30886142	+	Silent	SNP	C	T	T	rs146895070	byFrequency	TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr22:30886142C>T	uc003aid.2	-	11	1273	c.1173G>A	c.(1171-1173)gaG>gaA	p.E391E	SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Silent_p.E376E|SEC14L4_uc003aif.2_Missense_Mutation_p.R352K	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	391						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GCAGCGTCTCCTCAGAGGCCT	0.592000														34			16		0	0	9.7654e-05	0	0
NPAS2	4862	broad.mit.edu	37	2	101598697	101598697	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:101598697C>T	uc010yvt.1	+	15	1684	c.1682C>T	c.(1681-1683)tCg>tTg	p.S561L	NPAS2_uc002tap.1_Missense_Mutation_p.S496L|NPAS2_uc010fit.1_Missense_Mutation_p.S74L	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	496					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGAAGTTTTCGGCACAGTTC	0.507000														10			8		0	0	0.000274275	0	0
COL19A1	1310	broad.mit.edu	37	6	70894614	70894614	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:70894614G>A	uc003pfc.1	+	44	2912	c.2795G>A	c.(2794-2796)gGa>gAa	p.G932E		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	932	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAAAAGATGGAATACCAGGT	0.313000														58			35		0	0	0.000109025	0	0
SCN5A	6331	broad.mit.edu	37	3	38645368	38645368	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:38645368C>T	uc021wvo.1	-	10	1777	c.1725G>A	c.(1723-1725)caG>caA	p.Q575Q	SCN5A_uc021wvk.1_Silent_p.Q575Q|SCN5A_uc021wvl.1_Silent_p.Q575Q|SCN5A_uc021wvm.1_Silent_p.Q575Q|SCN5A_uc021wvn.1_Silent_p.Q575Q|SCN5A_uc021wvp.1_Silent_p.Q575Q|SCN5A_uc021wvq.1_Silent_p.Q575Q|SCN5A_uc021wvr.1_Silent_p.Q575Q|SCN5A_uc021wvs.1_Silent_p.Q575Q|SCN5A_uc021wvt.1_Silent_p.Q575Q|SCN5A_uc021wvu.1_Silent_p.Q575Q|SCN5A_uc021wvv.1_Silent_p.Q575Q|SCN5A_uc021wvj.1_Silent_p.Q441Q|SCN5A_uc021wvi.1_Silent_p.Q441Q|SCN5A_uc021wvw.1_Silent_p.Q186Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	575					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGGACTGGGCTGTCCCTGGG	0.627000														74			33		0	0	0.000228196	0	0
OR51V1	283111	broad.mit.edu	37	11	5221880	5221880	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:5221880C>T	uc010qyz.2	-	0	51	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T17T(2)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAGAATTCGTGCTGGTGC	0.428000														63			17		0	0	0.000422831	0	0
WWC2	80014	broad.mit.edu	37	4	184210777	184210777	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr4:184210777G>A	uc010irx.3	+	20	3555	c.3373G>A	c.(3373-3375)Gct>Act	p.A1125T	WWC2_uc003ivk.4_Missense_Mutation_p.A920T|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.A807T|WWC2_uc003ivn.4_Missense_Mutation_p.A640T|WWC2_uc010irz.3_Missense_Mutation_p.A466T|WWC2_uc003ivo.4_Missense_Mutation_p.A253T	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	1125										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTGAAGCAAGCTGAGAAGCA	0.527000														43			17		0	0	0.000175454	0	0
HRASLS	57110	broad.mit.edu	37	3	192980846	192980846	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:192980846G>A	uc003fta.3	+	2	632	c.227G>A	c.(226-228)gGa>gAa	p.G76E		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	Homo sapiens HRAS-like suppressor (HRASLS), mRNA.	76										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		GATGTTGTGGGAAATGACACA	0.433000														33			56		0	0	0.000147903	0	0
GRIK3	2899	broad.mit.edu	37	1	37267467	37267467	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:37267467G>A	uc001caz.2	-	15	2880	c.2745C>T	c.(2743-2745)gcC>gcT	p.A915A		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	915					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGAACACAGGGGCTAAGGATG	0.612000														13			39		0	0	0.000437636	0	0
ZNF681	148213	broad.mit.edu	37	19	23927190	23927190	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:23927190G>A	uc002nrk.4	-	3	1304	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	ZNF681_uc002nrl.4_Missense_Mutation_p.H319Y|ZNF681_uc002nrj.4_Missense_Mutation_p.H319Y	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCTCCAGTATGAATTATCTTA	0.398000														27			15		0	0	0.000308642	0	0
DENND5B	160518	broad.mit.edu	37	12	31577540	31577541	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:31577540_31577541CC>TT	uc001rkh.1	-	11	2575_2576	c.2424_2425GG>AA	c.(2422-2427)gaggag>gaAAag	p.E809K	DENND5B_uc001rki.1_Missense_Mutation_p.E774K	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	774	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGGTGTTCTCCTCCAGGCCGG	0.515000														88			61		0	0	6.4e-05	0	0
BACH2	60468	broad.mit.edu	37	6	90642327	90642327	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:90642327G>A	uc011eab.2	-	8	3200	c.2326C>T	c.(2326-2328)Ccc>Tcc	p.P776S	BACH2_uc003pnw.3_Missense_Mutation_p.P776S	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	776						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGTCCGGGGGGAGCCGCGCCT	0.632000														36			25		0	0	7.16444e-05	0	0
COL5A3	50509	broad.mit.edu	37	19	10079359	10079359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:10079359C>T	uc002mmq.1	-	57	4284	c.4198G>A	c.(4198-4200)Ggg>Agg	p.G1400R		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1400	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCTTTTCCCCCTTGGGGCCA	0.577000														15			8		0	0	0.000442599	0	0
FAM47B	170062	broad.mit.edu	37	X	34962607	34962607	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:34962607C>T	uc004ddi.2	+	0	1695	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	553										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CATGGTACTTCGAGCCTAAGT	0.488000														35			53		0	0	0.000147903	0	0
SLC22A9	114571	broad.mit.edu	37	11	63138704	63138704	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:63138704C>T	uc001nww.3	+	1	768	c.500C>T	c.(499-501)tCa>tTa	p.S167L	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	167					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGTCATTTATCAGACAGGTGA	0.393000														33			15		0	0	5.01169e-05	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072194	63072194	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:63072194G>A	uc009yor.3	+	8	1639	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	477						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGCTAGTAGGATTGGAGCAG	0.383000														67			41		0	0	0.000147903	0	0
STIL	6491	broad.mit.edu	37	1	47746773	47746773	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:47746773G>A	uc001crd.1	-	11	1512	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.P406S|STIL_uc010omo.1_Missense_Mutation_p.P453S|STIL_uc001crc.1_Missense_Mutation_p.P453S|STIL_uc001cre.1_Missense_Mutation_p.P453S|STIL_uc001crf.1_Missense_Mutation_p.P66S|STIL_uc001crg.1_Missense_Mutation_p.P406S	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	453					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATCAAAGGAGGATTTTCATTA	0.428000														68			49		0	0	0.000147903	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439174	14439174	+	Splice_Site	SNP	T	C	C			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr21:14439174T>C	uc002yja.4	+	10		c.2691_splice	c.e10-1							Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TAATGGCAGATTGACTTTAAA	0.269000														47			26		0	0	0.000227799	0	0
STAT4	6775	broad.mit.edu	37	2	191903927	191903927	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:191903927G>T	uc002usm.2	-	15	1747	c.1432C>A	c.(1432-1434)Cag>Aag	p.Q478K	STAT4_uc002usn.2_Missense_Mutation_p.Q478K|STAT4_uc010zgk.1_Missense_Mutation_p.Q323K|STAT4_uc002uso.2_Missense_Mutation_p.Q478K	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	478					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GAGTCTACCTGGGAATCGTTG	0.433000														79			7		0.000157383	0.0041902	0.000157383	1	0
ARL5A	26225	broad.mit.edu	37	2	152670746	152670746	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:152670746C>G	uc002txx.1	-	2	511	c.192G>C	c.(190-192)atG>atC	p.M64I	ARL5A_uc010zcc.2_Non-coding_Transcript|ARL5A_uc002txv.1_Missense_Mutation_p.M27I|ARL5A_uc002txw.1_Missense_Mutation_p.M27I	NM_012097	NP_817114	Q9Y689	ARL5A_HUMAN	Homo sapiens ADP-ribosylation factor-like 5A (ARL5A), transcript variant 1, mRNA.	64					small GTPase mediated signal transduction	intracellular	GTP binding			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		CAATATCCCACATTAGGAAAC	0.328000														148			9		0	0	0.000274275	0	0
DIS3L2	129563	broad.mit.edu	37	2	233194675	233194676	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:233194675_233194676CC>TT	uc010fxz.3	+	14	2168_2169	c.1892_1893CC>TT	c.(1891-1893)ccc>cTT	p.P631L	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	631							RNA binding|exonuclease activity|ribonuclease activity	p.P631P(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ATGGGGCTGCCCGTGGACTTCA	0.653000														34			24		0	0	6.4e-05	0	0
LZTR1	8216	broad.mit.edu	37	22	21331325	21331325	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr22:21331325A>T	uc002ztj.2	+	13	1441	c.1223A>T	c.(1222-1224)aAg>aTg	p.K408M	LZTR1_uc002ztk.2_Missense_Mutation_p.K408M|LZTR1_uc002ztl.2_Missense_Mutation_p.K414M|LZTR1_uc011ahx.1_Missense_Mutation_p.K396M|LZTR1_uc002ztn.3_5'Flank	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCACAGCTGAAGGAGGTTGTG	0.617000														27			22		0	0	0.00047179	0	0
FBN2	2201	broad.mit.edu	37	5	127666379	127666379	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:127666379C>T	uc003kuu.3	-	32	4670	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	FBN2_uc003kuv.2_Missense_Mutation_p.E1378K	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1411	EGF-like 23; calcium-binding.				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	p.E1411Q(3)		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)		TTAGAACATTCGTCCAGATCT	0.428000														21			13		0	0	0.000308642	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710306	31710306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:31710306C>T	uc021wuu.1	-	9	2595	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	OSBPL10_uc003ceu.1_Missense_Mutation_p.E399K|OSBPL10_uc011axf.2_Missense_Mutation_p.E578K	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	642					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGCTTCACTTCTGCGGTAACC	0.378000														113			6		0	0	8.12818e-05	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021110	142021110	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:142021110G>A	uc011krr.1	+	1	275	c.90G>A	c.(88-90)ctG>ctA	p.L30L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Silent_p.L30L					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAGATATCTGATCAAAACGA	0.547000														19			28		0	0	0.000339439	0	0
UMOD	7369	broad.mit.edu	37	16	20360463	20360463	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr16:20360463C>T	uc002dhb.3	-	3	388	c.259G>A	c.(259-261)Gag>Aag	p.E87K	UMOD_uc002dgz.3_Missense_Mutation_p.E54K|UMOD_uc002dha.3_Missense_Mutation_p.E54K	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	54	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGAAGCCCTCCTGACAGGTG	0.602000														8			10		0	0	6.40141e-05	0	0
LMAN2	10960	broad.mit.edu	37	5	176759165	176759165	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr5:176759165G>A	uc003mge.3	-	7	1230	c.993C>T	c.(991-993)ctC>ctT	p.L331L		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	331					protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGATGCCCAGGAGAGCGCACA	0.687000														16			16		0	0	9.7654e-05	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633363	70633363	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr14:70633363C>T	uc001xly.3	-	1	2531	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E593K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E593K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E593K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	593	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TACACAGTTTCATCATTCTTG	0.468000														45			12		0	0	6.40141e-05	0	0
LAMB4	22798	broad.mit.edu	37	7	107738881	107738881	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:107738881C>T	uc010ljo.1	-	10	1411	c.1327G>A	c.(1327-1329)Gga>Aga	p.G443R	LAMB4_uc003vey.2_Missense_Mutation_p.G443R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	443	Laminin EGF-like 3.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCGCTTAGTCCGTAGTGGTTG	0.577000														54			27		0	0	0.000491102	0	0
CCDC129	223075	broad.mit.edu	37	7	31682949	31682949	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:31682949C>G	uc011kae.2	+	10	2055	c.2043C>G	c.(2041-2043)gaC>gaG	p.D681E	CCDC129_uc011kad.1_Missense_Mutation_p.D665E|CCDC129_uc003tcj.1_Missense_Mutation_p.D655E|CCDC129_uc003tci.1_Missense_Mutation_p.D506E|CCDC129_uc003tck.1_Missense_Mutation_p.D563E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	655										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATGCAACTGACCTTGCTCAAA	0.488000														40			40		0	0	0.000125731	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882591	228882591	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:228882591C>T	uc002vpq.2	-	6	3026	c.2979G>A	c.(2977-2979)agG>agA	p.R993R	SPHKAP_uc002vpp.2_Silent_p.R993R|SPHKAP_uc010zlx.1_Silent_p.R993R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	993						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTTGTGTTTCCTCACAGCGG	0.537000														46			24		0	0	9.22233e-05	0	0
AAED1	195827	broad.mit.edu	37	9	99408252	99408252	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr9:99408252C>T	uc004awm.3	-	4	512	c.476G>A	c.(475-477)tGg>tAg	p.W159*		NM_153698	NP_714542	Q7RTV5	CI021_HUMAN	Homo sapiens chromosome 9 open reading frame 21 (C9orf21), mRNA.	159							antioxidant activity|oxidoreductase activity										CACTGCCCGCCACAGGCTCTG	0.453000														67			46		0	0	0.000437636	0	0
CNKSR3	154043	broad.mit.edu	37	6	154544362	154544362	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:154544362C>T	uc021zhc.1	-	15	2150	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpw.3_Missense_Mutation_p.G88R|CNKSR3_uc003qpx.3_Missense_Mutation_p.G87R|CNKSR3_uc010kjh.3_Missense_Mutation_p.G88R|CNKSR3_uc021zhd.1_Missense_Mutation_p.G132R|CNKSR3_uc021zhe.1_Missense_Mutation_p.G62R	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TTGACAAATCCATCAGCTTTC	0.398000														27			5		0	0	8.12818e-05	0	0
STAB1	23166	broad.mit.edu	37	3	52551984	52551984	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:52551984G>A	uc003dej.3	+	44	4800	c.4726G>A	c.(4726-4728)Ggg>Agg	p.G1576R	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1576	EGF-like 13.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCACACCGTGGGGGACGGCCT	0.617000														22			25		0	0	0.000227799	0	0
SEMA3E	9723	broad.mit.edu	37	7	83032082	83032082	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:83032082G>A	uc003uhy.2	-	9	1630	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SEMA3E_uc022agy.1_Nonsense_Mutation_p.R277*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	337	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.R337*(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCATGCCCTCGAAAAATATTA	0.403000														27			24		0	0	0.000375601	0	0
ALPK2	115701	broad.mit.edu	37	18	56204264	56204264	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr18:56204264G>A	uc002lhj.4	-	4	3369	c.3155C>T	c.(3154-3156)cCt>cTt	p.P1052L	ALPK2_uc002lhk.1_Missense_Mutation_p.P383L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1052							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACTTGGGAAGGAAATTGGGA	0.493000														55			27		0	0	0.000147802	0	0
DNM2	1785	broad.mit.edu	37	19	10941011	10941011	+	Silent	SNP	C	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:10941011C>A	uc002mpt.2	+	19	2690	c.2500C>A	c.(2500-2502)Cgg>Agg	p.R834R	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.R834R|DNM2_uc010dxl.2_Silent_p.R834R|DNM2_uc002mpu.2_Silent_p.R830R|DNM2_uc002mpv.2_Silent_p.R830R|DNM2_uc002mpw.3_Silent_p.R563R|DNM2_uc002mpx.1_Silent_p.R190R	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	834	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GATCCCATCTCGGCCAGTTCG	0.672000			"""F, N, Splice, Mis, O"""		ETP ALL									21			23		1.96895e-08	5.45046e-07	0.000375601	1	0
NAV3	89795	broad.mit.edu	37	12	78225316	78225316	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:78225316G>A	uc001syp.3	+	0	248	c.75G>A	c.(73-75)ccG>ccA	p.P25P	NAV3_uc001syo.3_Silent_p.P25P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	25						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGCTCTTCCGATACCAAATC	0.463000										HNSCC(70;0.22)				104			52		0	0	0.000147903	0	0
C2CD3	26005	broad.mit.edu	37	11	73748584	73748584	+	Silent	SNP	C	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:73748584C>A	uc001ouu.2	-	29	6047	c.5820G>T	c.(5818-5820)ggG>ggT	p.G1940G	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1940						centrosome		p.G1940G(3)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TACACTGGCTCCCAGGGTCTA	0.527000														103			66		7.75977e-34	2.20652e-32	0.000147903	1	0
NHLH1	4807	broad.mit.edu	37	1	160340839	160340839	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:160340839C>T	uc021pbs.1	+	0	318	c.318C>T	c.(316-318)ccC>ccT	p.P106P	NHLH1_uc001fwa.2_Silent_p.P106P	NM_005598	NP_005589	Q02575	HEN1_HUMAN	Homo sapiens nescient helix loop helix 1 (NHLH1), mRNA.	106	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTACGCTGCCCCCCGACAAGA	0.617000														27			26		0	0	0.000117367	0	0
NACC1	112939	broad.mit.edu	37	19	13247126	13247126	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:13247126C>T	uc002mwm.3	+	2	1195	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	343					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CCTGGCGTCTCTCCCGGCTGA	0.647000														45			17		0	0	9.7654e-05	0	0
PCNXL2	80003	broad.mit.edu	37	1	233136157	233136157	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:233136157G>A	uc001hvl.2	-	29	5457	c.5222C>T	c.(5221-5223)tCc>tTc	p.S1741F	PCNXL2_uc001hvk.1_Missense_Mutation_p.S393F|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1741						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCCTTGTTGGACAGCACTGC	0.607000														22			50		0	0	0.000147903	0	0
MED17	9440	broad.mit.edu	37	11	93543018	93543019	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:93543018_93543019CC>AA	uc001pem.4	+	10	1995_1996	c.1720_1721CC>AA	c.(1720-1722)cca>AAa	p.P574K		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	574					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P574Q(2)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGTGGCCTCCCCAAGTGGTGAC	0.441000														178			7		0	0	6.4e-05	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16952495	16952495	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrY:16952495G>A	uc011nas.1	+	6	2043	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K	NLGN4Y_uc004fte.2_Missense_Mutation_p.E434K|NLGN4Y_uc004ftg.2_Missense_Mutation_p.E602K|NLGN4Y_uc004ftf.2_Missense_Mutation_p.E295K|NLGN4Y_uc004fth.2_Missense_Mutation_p.E602K	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	602					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAACTTGAACGAGATATTCCA	0.478000														12			47		0	0	0.000147903	0	0
CLCN1	1180	broad.mit.edu	37	7	143047514	143047514	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:143047514C>T	uc003wcr.1	+	20	2540	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	CLCN1_uc011ktc.1_Missense_Mutation_p.S430F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	818					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGTTTTGATTCCTGCTGTATT	0.557000														18			24		0	0	0.000147802	0	0
HRG	3273	broad.mit.edu	37	3	186390628	186390628	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:186390628C>T	uc003fqq.3	+	4	634	c.611C>T	c.(610-612)cCc>cTc	p.P204L		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	204	Cystatin 2.		P -> S (in dbSNP:rs9898).		fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CGGAACTGCCCCAGACACCAT	0.443000														20			30		0	0	0.000491102	0	0
NFIX	4784	broad.mit.edu	37	19	13184813	13184814	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:13184813_13184814GG>AA	uc010xmx.2	+	4	868_869	c.815_816GG>AA	c.(814-816)cgg>cAA	p.R272Q	NFIX_uc002mwd.3_Missense_Mutation_p.R264Q|NFIX_uc002mwe.3_Missense_Mutation_p.R256Q|NFIX_uc002mwf.3_Missense_Mutation_p.R267Q|NFIX_uc002mwg.2_Missense_Mutation_p.R263Q			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	264					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CTGGGGCGGCGGTCCATCACCT	0.624000														46			23		0	0	6.4e-05	0	0
RFX6	222546	broad.mit.edu	37	6	117198636	117198636	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:117198636G>A	uc003pxm.3	+	0	261	c.198G>A	c.(196-198)ccG>ccA	p.P66P		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	66					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCGAAGACCCGGAGCTGCCGG	0.617000														5			4		0	0	0.00024832	0	0
USP44	84101	broad.mit.edu	37	12	95914926	95914926	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:95914926C>T	uc001teg.3	-	4	1930	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	USP44_uc001teh.3_Missense_Mutation_p.E596K|USP44_uc009zte.3_Missense_Mutation_p.E593K	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	596					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TTTAAGATTTCCTCAAAGCCA	0.443000														65			54		0	0	0.000147903	0	0
PROL1	58503	broad.mit.edu	37	4	71275483	71275483	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr4:71275483C>T	uc003hfi.3	+	2	612	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	146					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				AAATAAACATCACCACCGCAG	0.448000														42			17		0	0	5.01169e-05	0	0
CLRN1	7401	broad.mit.edu	37	3	150659495	150659495	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:150659495G>A	uc021xfs.1	-	1	598	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	CLRN1-AS1_uc011bny.1_Intron|CLRN1_uc021xfq.1_Non-coding_Transcript|CLRN1_uc021xfr.1_5'UTR|CLRN1_uc003eyj.3_Missense_Mutation_p.L27F|CLRN1_uc003eyk.1_Missense_Mutation_p.L103F|CLRN1_uc021xft.1_Non-coding_Transcript	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	103					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		p.L103L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCAGAGAAGAGAATGACATTG	0.418000														9			16		0	0	0.000422831	0	0
MLF2	8079	broad.mit.edu	37	12	6859170	6859171	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:6859170_6859171GG>AA	uc010sfi.2	-	6	465_466	c.402_403CC>TT	c.(400-405)atccgg>atTTgg	p.R135W	MLF2_uc001qqp.3_Missense_Mutation_p.R135W|MLF2_uc009zey.1_Missense_Mutation_p.R135W	NM_005439	NP_005430	Q15773	MLF2_HUMAN	Homo sapiens myeloid leukemia factor 2 (MLF2), transcript variant 1, mRNA.	135					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CGTGTCTCCCGGATCTGGGATG	0.579000														21			11		0	0	6.4e-05	0	0
OR2T3	343173	broad.mit.edu	37	1	248637452	248637452	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:248637452G>A	uc001iel.1	+	0	801	c.801G>A	c.(799-801)ccG>ccA	p.P267P		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATGCTCCCGAGTTCCTACC	0.547000														169			128		0	0	0.000147903	0	0
IRGC	56269	broad.mit.edu	37	19	44223374	44223374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:44223374C>T	uc002oxh.3	+	1	811	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	IRGC_uc021uvh.1_Missense_Mutation_p.R222C	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	222						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTCGCCGGCCCGCTACGACTT	0.701000														15			13		0	0	0.000151284	0	0
FER1L5	90342	broad.mit.edu	37	2	97363400	97363401	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:97363400_97363401GA>AC	uc010fia.3	+	37	4219_4220	c.4219_4220GA>AC	c.(4219-4221)gag>ACg	p.E1407T	FER1L5_uc002sws.4_Missense_Mutation_p.E125T|FER1L5_uc010fib.1_Non-coding_Transcript|FER1L5_uc010yus.2_Missense_Mutation_p.E124T	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1407						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTGCCAGGATGAGTATGAGCAT	0.559000														17			13		0	0	6.4e-05	0	0
TMEM164	84187	broad.mit.edu	37	X	109247307	109247307	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chrX:109247307C>A	uc004eom.3	+	1	644	c.305C>A	c.(304-306)aCc>aAc	p.T102N	TMEM164_uc004eon.2_Intron|TMEM164_uc010npq.3_Missense_Mutation_p.T102N	NM_032227	NP_060168	Q5U3C3	TM164_HUMAN	Homo sapiens transmembrane protein 164 (TMEM164), transcript variant 2, mRNA.	102						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CTGTGCCTGACCTTCGGGGTG	0.587000														41			50		1.61863e-15	4.57153e-14	0.000147903	1	0
KIF21A	55605	broad.mit.edu	37	12	39760859	39760859	+	Silent	SNP	T	C	C			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr12:39760859T>C	uc001rly.3	-	4	1128	c.708A>G	c.(706-708)caA>caG	p.Q236Q	KIF21A_uc001rlx.3_Silent_p.Q236Q|KIF21A_uc001rlz.3_Silent_p.Q236Q|KIF21A_uc010skl.2_Silent_p.Q236Q	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	236	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ACACTCTGGTTTGACACACAT	0.383000														38			27		0	0	0.000339439	0	0
MYOF	26509	broad.mit.edu	37	10	95161230	95161231	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr10:95161230_95161231GG>AA	uc001kin.3	-	11	1184_1185	c.1061_1062CC>TT	c.(1060-1062)gcc>gTT	p.A354V	MYOF_uc001kio.3_Missense_Mutation_p.A354V|MYOF_uc001kip.4_Missense_Mutation_p.A354V|MYOF_uc009xuf.2_Missense_Mutation_p.A336V	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	354	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCCACCGGAGGGCAATGCCAGC	0.446000														14			30		0	0	6.4e-05	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32834207	32834207	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr18:32834207C>T	uc002kyl.3	-	4	1148	c.692G>A	c.(691-693)gGt>gAt	p.G231D	ZNF397_uc002kyj.3_Missense_Mutation_p.P220S|ZNF397_uc010dmq.3_Missense_Mutation_p.P190S|ZNF397_uc010dmr.3_Non-coding_Transcript|ZSCAN30_uc002kym.3_Missense_Mutation_p.G231D	NM_001166012	NP_001159484	Q86W11	ZSC30_HUMAN	Homo sapiens zinc finger and SCAN domain containing 30 (ZSCAN30), mRNA.	231					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						GTTGTCCAGACCTCCCAAAGC	0.463000														86			47		0	0	0.000147903	0	0
ATRN	8455	broad.mit.edu	37	20	3578567	3578567	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr20:3578567G>A	uc002wim.2	+	21	3574	c.3484G>A	c.(3484-3486)Gac>Aac	p.D1162N	ATRN_uc002wil.2_Missense_Mutation_p.D1162N|ATRN_uc021vzz.1_Missense_Mutation_p.D1046N	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	1162					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.I1161I(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTTCTTATTGACTATCAGTT	0.333000														111			74		0	0	0.000147903	0	0
TDRD3	81550	broad.mit.edu	37	13	61102738	61102738	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr13:61102738C>T	uc001vhz.4	+	10	1888	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	TDRD3_uc010aef.2_Missense_Mutation_p.S192F|TDRD3_uc001via.3_Missense_Mutation_p.S367F|TDRD3_uc010aeg.3_Missense_Mutation_p.S460F|TDRD3_uc001vib.4_Missense_Mutation_p.S366F	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	367					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TCTTCAGTATCTGAAGTATGG	0.373000														42			25		0	0	9.22233e-05	0	0
CFC1B	653275	broad.mit.edu	37	2	131356273	131356273	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr2:131356273C>T	uc002tro.1	-	2	580	c.189G>A	c.(187-189)ggG>ggA	p.G63G		NM_001079530	NP_115934	P0CG36	CFC1B_HUMAN	Homo sapiens cripto, FRL-1, cryptic family 1B (CFC1B), mRNA.	63					gastrulation	extracellular region						Colorectal(110;0.1)					CCTCGGCGCTCCCAGTCACCT	0.617000														55			13		0	0	7.07596e-05	0	0
LAMA2	3908	broad.mit.edu	37	6	129609164	129609164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:129609164G>A	uc021zfb.1	+	18	2815	c.2710G>A	c.(2710-2712)Gga>Aga	p.G904R	LAMA2_uc003qbn.3_Missense_Mutation_p.G904R|LAMA2_uc003qbo.3_Missense_Mutation_p.G904R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	904	Laminin EGF-like 8.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGTGCTGATGGATATTTTGG	0.478000														96			66		0	0	0.000147903	0	0
C19orf6	91304	broad.mit.edu	37	19	1013313	1013313	+	Silent	SNP	C	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:1013313C>A	uc002lqr.1	-	2	680	c.534G>T	c.(532-534)gtG>gtT	p.V178V	C19orf6_uc021ume.1_5'Flank|C19orf6_uc002lqs.1_Silent_p.V178V	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	178						cytoplasm|integral to membrane				breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCTTGAACACCTTGGGCT	0.637000														36			21		4.4004e-07	1.2022e-05	0.00047179	1	0
FGD2	221472	broad.mit.edu	37	6	36995237	36995237	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr6:36995237G>A	uc010jwp.1	+	14	1809	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L	FGD2_uc003ong.2_Silent_p.L268L|FGD2_uc011dtv.1_Silent_p.L174L|FGD2_uc003onj.1_Silent_p.L123L	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	546	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACCAGAGCCTGATGTGCAGCT	0.622000														75			47		0	0	0.000147903	0	0
ODZ4	26011	broad.mit.edu	37	11	78372617	78372617	+	Silent	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:78372617G>A	uc001ozl.4	-	32	7891	c.7428C>T	c.(7426-7428)ctC>ctT	p.L2476L	ODZ4_uc001ozk.4_Silent_p.L701L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2476					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ATCCAAAGGTGAGCAGCCAGC	0.507000														16			10		0	0	0.000151284	0	0
OR2A12	346525	broad.mit.edu	37	7	143793006	143793006	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr7:143793006G>A	uc011kty.2	+	0	806	c.806G>A	c.(805-807)cGg>cAg	p.R269Q		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTCAAGAACGGAGGAAGATC	0.527000														218			94		0	0	0.000147903	0	0
P4HA3	283208	broad.mit.edu	37	11	74015355	74015355	+	Silent	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:74015355C>T	uc010rrj.2	-	1	346	c.303G>A	c.(301-303)agG>agA	p.R101R	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Silent_p.R101R			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	101						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTACCACATTCCTCCAGTCAG	0.493000														164			110		0	0	0.000147903	0	0
WDR90	197335	broad.mit.edu	37	16	705369	705369	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr16:705369C>T	uc002cii.1	+	14	1673	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	WDR90_uc002cig.1_Missense_Mutation_p.S540F|WDR90_uc002cih.1_Missense_Mutation_p.S541F|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.S67F|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	540										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTGCTGCGTTCCTGCCCCGTG	0.701000														15			14		0	0	0.000308642	0	0
DNASE2B	58511	broad.mit.edu	37	1	84864322	84864322	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:84864322delG	uc001djt.1	+	0	108	c.75delG	c.(73-75)ctgfs	p.L25fs	UOX_uc009wcg.3_5'Flank	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	Homo sapiens deoxyribonuclease II beta (DNASE2B), transcript variant 1, mRNA.	25					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TTGGGGTGCTGGGGGCAGCAA	0.463													---	3537	---	---	7	---					
WDR63	126820	broad.mit.edu	37	1	85547084	85547084	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr1:85547084delA	uc001dkt.3	+	3	462	c.271delA	c.(271-273)aaafs	p.K91fs	WDR63_uc009wcl.3_Frame_Shift_Del_p.K91fs	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	91										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCACCCAGTCAAAAAAATTGT	0.383													---	1388	---	---	8	---					
VPS8	23355	broad.mit.edu	37	3	184573590	184573593	+	Frame_Shift_Del	DEL	TTGT	-	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr3:184573590_184573593delTTGT	uc021xik.1	+	12	1215_1218	c.1127_1130delTTGT	c.(1126-1131)gttgttfs	p.V376fs	VPS8_uc003fpb.1_Frame_Shift_Del_p.V374fs|VPS8_uc010hyd.1_Frame_Shift_Del_p.V374fs	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	376							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGAGGAGATGTTGTTCATTTTCTA	0.387													---	65	---	---	60	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	A	A	rs56022003		TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr11:89106662_89106663insA	uc001pct.3	-	12	1314	c.1075_splice	c.e12-1	p.C359_splice	NOX4_uc009yvr.3_Splice_Site_p.C334_splice|NOX4_uc001pcu.3_Splice_Site_p.C285_splice|NOX4_uc001pcw.3_Splice_Site_p.C52_splice|NOX4_uc001pcx.3_Splice_Site_p.C52_splice|NOX4_uc001pcv.3_Splice_Site_p.C359_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Splice_Site_p.C193_splice|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Splice_Site_p.C335_splice|NOX4_uc009yvq.3_Splice_Site_p.C335_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	359	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													---	201	---	---	8	---					
ZNF668	79759	broad.mit.edu	37	16	31073072	31073072	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr16:31073072delG	uc021tgt.1	-	3	1602	c.1246delC	c.(1246-1248)cacfs	p.H416fs	ZNF668_uc010cag.2_Frame_Shift_Del_p.H393fs|ZNF668_uc010caf.3_Frame_Shift_Del_p.H393fs|ZNF668_uc002eao.3_Frame_Shift_Del_p.H393fs	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGTTACAGTGGAAGGGGCGC	0.667													---	136	---	---	61	---					
MYPOP	339344	broad.mit.edu	37	19	46404647	46404647	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr19:46404647delC	uc002pdt.3	-	1	472	c.385delG	c.(385-387)gcafs	p.A129fs		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	129						nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						CCAGCACCTGCCCCCGGCGCC	0.736													---	4	---	---	2	---					
TNRC6B	23112	broad.mit.edu	37	22	40674020	40674020	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A2JG-06A-11D-A196-08	TCGA-D3-A2JG-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9162ca00-4a41-4aa7-b09d-ee52dc6519ea	25855d9c-e92f-4ffd-a399-3c716fdf7b3c	g.chr22:40674020delT	uc011aor.2	+	8	3445	c.3234delT	c.(3232-3234)aatfs	p.N1078fs	TNRC6B_uc003aym.3_Frame_Shift_Del_p.N331fs|TNRC6B_uc003ayn.4_Frame_Shift_Del_p.N1025fs|TNRC6B_uc003ayo.3_Frame_Shift_Del_p.N882fs	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1078					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CTGAAGATAATCCAAGCAGCA	0.408													---	4	---	---	2	---