Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ARHGAP33	115703	broad.mit.edu	37	19	36279204	36279204	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:36279204G>C	ENST00000007510.4	+	21	3881	c.3737G>C	c.(3736-3738)gGc>gCc	p.G1246A	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G1085A|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G1082A			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1246					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGAAGGGGGGGCGAGCTCCAC	0.692000													3	14					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144891092	144891092	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:144891092C>T	ENST00000356994.2	-	15	1808	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	SCRIB_ENST00000320476.3_Missense_Mutation_p.R601Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.R520Q	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	601	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCGGATGAGCCGCTGCCTCCC	0.647000													51	66					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532854	84532854	+	RNA	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr9:84532854C>T	ENST00000527857.1	+	0	2876					NR_026851.1																						TTTCTACCTTCCCTCCTCAGC	0.443000													10	7					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65116533	65116533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:65116533G>A	ENST00000358691.5	-	27	3992	c.3826C>T	c.(3826-3828)Caa>Taa	p.Q1276*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.Q1277*	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTTCGATTTTGCTCATGTTGA	0.428000													19	44					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2127694	2127694	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:2127694G>A	ENST00000219476.3	+	26	3563	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	TSC2_ENST00000401874.2_Intron|TSC2_ENST00000353929.4_Intron|TSC2_ENST00000350773.4_Missense_Mutation_p.R978H|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000382538.6_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	978					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCCGGTGCCGCAGCATCAGT	0.607000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				18	83					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78799654	78799654	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr9:78799654G>A	ENST00000545128.1	+	17	2801	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E755K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	755	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TAACTGTACAGAATGTAGGGA	0.338000													8	31					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696515	17696515	+	Silent	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:17696515A>G	ENST00000399080.2	-	1	3191	c.3168T>C	c.(3166-3168)aaT>aaC	p.N1056N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1056										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTGTTCTCCATTATTGGGTA	0.353000													13	18					0	0	1	0	0
S100A4	6275	broad.mit.edu	37	1	153516297	153516297	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:153516297T>C	ENST00000368716.4	-	3	391	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368714.1_Missense_Mutation_p.I82V|S100A4_ENST00000354332.4_Missense_Mutation_p.I82V|S100A4_ENST00000368715.1_Missense_Mutation_p.I82V	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	82	EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCATGGCGATGCAGGACAGG	0.507000													52	133					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21592399	21592399	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:21592399C>T	ENST00000298925.5	+	19	2307	c.2154C>T	c.(2152-2154)gtC>gtT	p.V718V	NELL1_ENST00000357134.5_Silent_p.V690V|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Silent_p.V633V|NELL1_ENST00000532434.1_Silent_p.V643V			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	690	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACACCAGAGTCACAAGTCAAT	0.468000													37	113					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2433998	2433998	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:2433998C>T	ENST00000452833.1	-	15	2355	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	TRPM5_ENST00000528453.1_Missense_Mutation_p.E781K|TRPM5_ENST00000533060.1_Missense_Mutation_p.E781K|TRPM5_ENST00000155858.6_Missense_Mutation_p.E781K			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	781						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CGGATTTCCTCCAGCACCAGC	0.652000													9	8					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026799	65026799	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:65026799C>T	ENST00000262138.3	+	4	665	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	221					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AACGGGAATTCCTTAAGGCGT	0.532000													54	74					0	0	1	0	0
TADA3	10474	broad.mit.edu	37	3	9831513	9831513	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:9831513C>T	ENST00000343450.2	-	3	889	c.342G>A	c.(340-342)ccG>ccA	p.P114P	TADA3_ENST00000301964.2_Silent_p.P114P|TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000440161.1_Silent_p.P114P	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	114					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GGCCAGGGCCCGGCCCATGTC	0.557000													32	43					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44151597	44151597	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:44151597C>T	ENST00000395673.3	+	7	1237	c.1181C>T	c.(1180-1182)gCa>gTa	p.A394V	EXT2_ENST00000343631.3_Missense_Mutation_p.A361V|EXT2_ENST00000533608.1_Missense_Mutation_p.A361V|EXT2_ENST00000358681.4_Missense_Mutation_p.A361V	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	361					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTCTCCAGAGCATCTGTGGTT	0.423000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				23	35					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113878602	113878602	+	Splice_Site	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:113878602C>T	ENST00000383673.2	-	3	813	c.383_splice	c.e3+1	p.R128_splice	DRD3_ENST00000295881.7_Splice_Site_p.R128_splice|DRD3_ENST00000460779.1_Splice_Site_p.R128_splice|DRD3_ENST00000467632.1_Splice_Site_p.R128_splice	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	128					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCAGCCCTACCTGTCTATGCT	0.512000													23	34					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47100675	47100675	+	Splice_Site	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:47100675G>T	ENST00000377107.2	+	8	1200		c.e8-1		USP11_ENST00000218348.3_Splice_Site			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11						protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGCCTCTGCAGTGCCTCAGCA	0.527000													13	9					2.31682e-05	2.42056e-05	1	1	0
TRIT1	54802	broad.mit.edu	37	1	40349133	40349133	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:40349133G>T	ENST00000316891.5	-	1	45	c.31C>A	c.(31-33)Ccc>Acc	p.P11T	TRIT1_ENST00000441669.2_Missense_Mutation_p.P11T|TRIT1_ENST00000544981.1_Missense_Mutation_p.P11T|TRIT1_ENST00000372818.1_Missense_Mutation_p.P11T|TRIT1_ENST00000491865.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	11					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGCCCACGGGAACTGCTCGT	0.657000													6	27					0.0293803	0.0300237	1	1	0
AMACR	23600	broad.mit.edu	37	5	34005991	34005991	+	Silent	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:34005991T>C	ENST00000335606.6	-	2	349	c.261A>G	c.(259-261)aaA>aaG	p.K87K	AMACR_ENST00000441713.2_Silent_p.K87K|AMACR_ENST00000502637.1_Silent_p.K87K|AMACR_ENST00000382085.3_Silent_p.K87K|AMACR_ENST00000382072.2_Silent_p.K87K|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	87					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CCAGCTGGAGTTTCTCCATGA	0.458000													17	36					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676205	11676205	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:11676205G>C	ENST00000423059.3	-	2	825	c.574C>G	c.(574-576)Cag>Gag	p.Q192E		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	192						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAATCTTGCTGGCAAGGAATG	0.572000										HNSCC(18;0.044)			12	26					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14939513	14939513	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:14939513C>T	ENST00000285046.5	+	6	3087	c.2977C>T	c.(2977-2979)Cac>Tac	p.H993Y	FGD5_ENST00000543601.1_Missense_Mutation_p.H752Y|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	993	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCACGCCACTCACATCCTGCA	0.592000													36	34					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841655	36841655	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr20:36841655C>A	ENST00000279024.4	-	14	3663	c.3392G>T	c.(3391-3393)gGc>gTc	p.G1131V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1131										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGCAGCCTGGCCAGCTTCCTG	0.632000													12	29					3.07112e-06	3.23276e-06	1	1	0
SPANXN2	494119	broad.mit.edu	37	X	142795488	142795488	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:142795488T>G	ENST00000370498.1	-	2	943	c.190A>C	c.(190-192)Aat>Cat	p.N64H		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	64										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGATTTGAATTTATTTTCGTA	0.433000													64	46					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70902541	70902541	+	Missense_Mutation	SNP	G	G	A	rs12102644		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:70902541G>A	ENST00000393567.2	-	66	11392	c.11242C>T	c.(11242-11244)Cgc>Tgc	p.R3748C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3748										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTGTGCATGCGGTCATCCCAG	0.507000													13	15					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64493338	64493338	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr14:64493338G>A	ENST00000358025.3	+	42	6524	c.6294G>A	c.(6292-6294)gaG>gaA	p.E2098E	SYNE2_ENST00000554584.1_Silent_p.E2098E|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.E2098E	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2098					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAGAATAGAGACCATCATGA	0.443000													5	12					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18748380	18748380	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:18748380C>T	ENST00000361511.4	+	5	622	c.128C>T	c.(127-129)aCc>aTc	p.T43I	PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000543630.1_Missense_Mutation_p.T43I|PPEF1_ENST00000359763.6_Missense_Mutation_p.T43I|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.T43I	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	43	IQ.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TATGCCCTCACCATCTTCCAG	0.453000													51	22					0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120241875	120241875	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:120241875C>G	ENST00000274024.3	-	2	477	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	64							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						ACACCAAGTTCAAAAACAACT	0.343000													22	43					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7709416	7709416	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:7709416G>A	ENST00000338316.4	+	10	1583	c.1494G>A	c.(1492-1494)ttG>ttA	p.L498L	ADCY2_ENST00000537121.1_Silent_p.L318L|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	498					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCCGGTACTTGGAGTCCTGGG	0.612000													9	21					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73440229	73440229	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:73440229C>T	ENST00000263666.4	-	6	1407	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L	PDZRN3_ENST00000535920.1_Silent_p.L153L|PDZRN3_ENST00000466780.1_Silent_p.L88L|PDZRN3_ENST00000462146.2_Silent_p.L88L|PDZRN3_ENST00000479530.1_Silent_p.L148L|PDZRN3_ENST00000466348.1_5'UTR	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	431	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CAGTGAGGCCCAGCTTGTCCT	0.478000													35	61					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61022460	61022460	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr18:61022460C>T	ENST00000406396.3	-	5	785	c.394G>A	c.(394-396)Gat>Aat	p.D132N	KDSR_ENST00000326575.5_Missense_Mutation_p.D132N	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	132					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						ACTTCAAGATCTTCAAATTTT	0.408000													51	82					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531209	84531209	+	RNA	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr9:84531209C>T	ENST00000527857.1	+	0	1231					NR_026851.1																						ACTCTGTGGTCAACCTCACAG	0.423000													3	11					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784569	54784569	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:54784569G>A	ENST00000218436.6	-	8	1967	c.1938C>T	c.(1936-1938)agC>agT	p.S646S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	646					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GCTGAGCTGTGCTTACCCCTA	0.552000													24	15					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34067440	34067440	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr21:34067440C>A	ENST00000382499.2	-	5	748	c.749G>T	c.(748-750)cGa>cTa	p.R250L	SYNJ1_ENST00000433931.2_Missense_Mutation_p.R250L|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R211L|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R211L|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R211L	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	211	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGTCCCAGCTCGTTCACAGCT	0.383000													49	105					4.04843e-08	4.49826e-08	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86273794	86273794	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr15:86273794G>C	ENST00000394518.2	+	30	7233	c.7138G>C	c.(7138-7140)Gag>Cag	p.E2380Q	AKAP13_ENST00000394510.2_Missense_Mutation_p.E625Q|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2384Q	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2380	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAAGAGAAGGAGATGATTTT	0.463000											OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	73					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20107284	20107284	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:20107284G>T	ENST00000381569.1	-	4	2097	c.1740C>A	c.(1738-1740)gaC>gaA	p.D580E	LZTS1_ENST00000265801.6_Missense_Mutation_p.D580E|LZTS1_ENST00000522290.1_Missense_Mutation_p.D521E			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	580					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCCCTTCCAGGTCAACCTCCA	0.657000													28	66					3.73148e-12	4.24721e-12	1	1	0
PCDHB2	56133	broad.mit.edu	37	5	140474771	140474771	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:140474771C>A	ENST00000194155.4	+	1	545	c.397C>A	c.(397-399)Cca>Aca	p.P133T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		133	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATCATTCCCCAGTTTTCCT	0.438000													29	39					5.61819e-17	6.55455e-17	1	1	0
FZD5	7855	broad.mit.edu	37	2	208632054	208632054	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:208632054G>A	ENST00000295417.3	-	2	1963	c.1410C>T	c.(1408-1410)taC>taT	p.Y470Y		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	470					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		AGTGCTGCTCGTACAGGTAGC	0.667000													11	29					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49365466	49365466	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:49365466A>G	ENST00000225298.7	+	11	1462	c.1405A>G	c.(1405-1407)Ata>Gta	p.I469V		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	469					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AATAAAAGCTATAATGAACTT	0.338000													9	44					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163295850	163295850	+	Silent	SNP	T	T	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:163295850T>A	ENST00000271452.3	+	2	288	c.9T>A	c.(7-9)acT>acA	p.T3T	NUF2_ENST00000524800.1_Silent_p.T3T|NUF2_ENST00000490881.1_Intron|NUF2_ENST00000367900.3_Silent_p.T3T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	3	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGATGGAAACTTTGTCTTTCC	0.338000													31	91					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139601575	139601575	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:139601575G>A	ENST00000303045.6	-	65	5248	c.4802C>T	c.(4801-4803)cCc>cTc	p.P1601L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1581L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1601	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGCCTGGGGGACCGGGAGG	0.617000										HNSCC(7;0.00092)			3	31					0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80206813	80206813	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:80206813C>T	ENST00000314028.6	-	8	1484	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	CSNK1D_ENST00000398519.5_Missense_Mutation_p.V379I|CSNK1D_ENST00000392334.2_Missense_Mutation_p.V379I	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	379					circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GAGATGTTGACGGGGGCCCCG	0.662000													9	5					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41862853	41862853	+	Splice_Site	SNP	C	C	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:41862853C>A	ENST00000196371.5	-	2	239		c.e2-1			NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1						cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	AAACACATCCCTGaaatatta	0.338000													17	17					3.41278e-10	3.85314e-10	1	1	0
SUFU	51684	broad.mit.edu	37	10	104359238	104359238	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr10:104359238G>A	ENST00000369902.3	+	8	1125	c.959G>A	c.(958-960)aGc>aAc	p.S320N	SUFU_ENST00000369899.2_Missense_Mutation_p.S320N|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.S320N	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	320					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GAGATCAACAGCAAACCTGTC	0.602000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				29	67					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006319	118006319	+	Silent	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:118006319G>C	ENST00000310754.4	-	1	417	c.231C>G	c.(229-231)gtC>gtG	p.V77V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	77					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CCAAATCTTTGACACCATAAT	0.438000													13	17					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16769350	16769350	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:16769350T>G	ENST00000381323.3	-	3	258	c.38A>C	c.(37-39)gAa>gCa	p.E13A	FAM49A_ENST00000355549.2_Missense_Mutation_p.E13A|FAM49A_ENST00000406434.1_Missense_Mutation_p.E13A	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	13						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TGGATAGTTTTCAATTTCCCT	0.328000													10	28					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188366	7188366	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:7188366T>A	ENST00000542285.1	-	11	1581	c.1432A>T	c.(1432-1434)Atg>Ttg	p.M478L				P00736	C1R_HUMAN	complement component 1, r subcomponent	530	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTAGCTTCATGAGCTCTTCC	0.562000													29	71					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	RNA	SNP	A	A	G	rs9729175	by1000genomes	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.1																						TGCTGCCCGCAGGATATTGTG	0.562000													4	11					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372390	175372390	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:175372390C>T	ENST00000367674.1	-	4	1570	c.862G>A	c.(862-864)Gtt>Att	p.V288I	TNR_ENST00000263525.2_Missense_Mutation_p.V288I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	288	Cys-rich.|EGF-like 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCTCACCAACGTAGCCCTCC	0.632000													22	36					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	25					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103341355	103341355	+	Splice_Site	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:103341355A>G	ENST00000428762.1	-	9	1062		c.e9+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTACAACAAACCTAATTTTC	0.368000													18	57					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229851	8229851	+	Silent	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:8229851G>T	ENST00000539824.1	+	12	2576	c.2202G>T	c.(2200-2202)acG>acT	p.T734T	SH3TC1_ENST00000245105.3_Silent_p.T810T			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	810							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCTTCATGACGCAGGCAGTGG	0.692000													14	17					4.3838e-07	4.72102e-07	1	1	0
IPP	3652	broad.mit.edu	37	1	46206944	46206944	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:46206944T>A	ENST00000396478.3	-	3	455	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	118						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTCAGTCAACTGTAGCATGTC	0.373000													23	59					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33774797	33774797	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:33774797C>T	ENST00000403687.3	+	14	2261	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	RASGRP3_ENST00000407811.1_Silent_p.F506F|RASGRP3_ENST00000402538.3_Silent_p.F507F	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	507					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGCCAACCTTCTGCGAACACT	0.393000													9	21					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289209	62289209	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:62289209T>C	ENST00000378024.4	-	5	12954	c.12680A>G	c.(12679-12681)gAt>gGt	p.D4227G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4227					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGGAACATCAATGTCCAC	0.512000													161	224					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553821	135553821	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr9:135553821G>T	ENST00000372146.4	+	2	1379	c.815G>T	c.(814-816)gGc>gTc	p.G272V	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	272					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CGGGACGTTGGCAGTGTGCTC	0.517000													65	90					6.52717e-41	7.7441e-41	1	1	0
GNRHR	2798	broad.mit.edu	37	4	68619758	68619758	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:68619758C>T	ENST00000226413.4	-	1	320	c.296G>A	c.(295-297)gGg>gAg	p.G99E	RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.G99E|RP11-453E17.1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	99					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GTTCCACATCCCATCCAGTGG	0.433000													33	63					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1782670	1782670	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:1782670G>A	ENST00000236671.2	-	2	229	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	33					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGGTCCGGCGGATGGACGTG	0.662000													8	32					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24572812	24572812	+	Missense_Mutation	SNP	G	G	A	rs35618680	byFrequency	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr14:24572812G>A	ENST00000545054.2	+	10	2078	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	PCK2_ENST00000561286.1_Missense_Mutation_p.R387H|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.R521H|PCK2_ENST00000558096.1_Missense_Mutation_p.R355H|PCK2_ENST00000559250.1_Intron			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	521					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.R521H(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		ATGGAAGGGCGCAAGGGGGCC	0.607000													5	61					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17131382	17131382	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:17131382C>T	ENST00000418129.2	+	6	3449	c.2984C>T	c.(2983-2985)gCa>gTa	p.A995V	PLCL2_ENST00000432376.1_Missense_Mutation_p.A995V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1121					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCCGAAAAAGCAAACGATGAA	0.428000													13	19					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50811745	50811745	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:50811745C>G	ENST00000540145.1	+	8	1446	c.1031C>G	c.(1030-1032)tCa>tGa	p.S344*	CYLD_ENST00000569418.1_Nonsense_Mutation_p.S341*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S341*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S341*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S341*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S344*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.S344*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S341*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	344	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGATCTACCTCAGACCCTGGA	0.284000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				22	43					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44531153	44531153	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr20:44531153A>G	ENST00000542937.1	-	10	1627	c.1093T>C	c.(1093-1095)Tct>Cct	p.S365P	PLTP_ENST00000354050.4_Missense_Mutation_p.S293P|PLTP_ENST00000372420.1_Missense_Mutation_p.S257P|PLTP_ENST00000372431.3_Missense_Mutation_p.S345P|PLTP_ENST00000477313.1_Missense_Mutation_p.S345P|PLTP_ENST00000420868.2_Missense_Mutation_p.S250P			P55058	PLTP_HUMAN	phospholipid transfer protein	345					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCAGTGACAGAGATGGTGGTG	0.632000													20	46					0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13007751	13007751	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:13007751C>T	ENST00000222214.5	+	9	1091	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	GCDH_ENST00000422947.2_Missense_Mutation_p.R250W|GCDH_ENST00000457854.1_Missense_Mutation_p.R294W|GCDH_ENST00000591470.1_Missense_Mutation_p.R294W			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	294	Substrate binding.		R -> W (in GA1).		lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GAACAACGCCCGGTACGGCAT	0.617000													10	27					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60230543	60230543	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:60230543C>T	ENST00000534668.1	+	3	517	c.228C>T	c.(226-228)atC>atT	p.I76I	MS4A1_ENST00000345732.4_Silent_p.I76I|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Silent_p.I76I|MS4A1_ENST00000389939.2_Silent_p.I76I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	76	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CAGCAGGGATCTATGCACCCA	0.512000													54	77					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569383	179569383	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:179569383T>A	ENST00000589042.1	-	105	30040	c.29816A>T	c.(29815-29817)gAa>gTa	p.E9939V	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9622V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8695V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9622	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGTTTTTCAGTTCCTTT	0.338000													4	18					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55860982	55860982	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:55860982G>T	ENST00000302124.2	+	1	230	c.199G>T	c.(199-201)Gca>Tca	p.A67S	OR8I2_ENST00000560768.1_Missense_Mutation_p.A67S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GAGCAATTTAGCATTTATTGA	0.393000													90	142					1.92282e-43	2.30081e-43	1	1	0
WDR19	57728	broad.mit.edu	37	4	39246165	39246165	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:39246165A>G	ENST00000399820.3	+	23	2792	c.2638A>G	c.(2638-2640)Aag>Gag	p.K880E	WDR19_ENST00000288634.7_Missense_Mutation_p.K720E	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	880					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CATCCGCTCTAAGAATTGGTA	0.433000													14	37					0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203453090	203453090	+	Missense_Mutation	SNP	G	G	A	rs137872837		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:203453090G>A	ENST00000343110.2	+	2	905	c.778G>A	c.(778-780)Gga>Aga	p.G260R		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	260					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CATCCCTAACGGATACTTCAA	0.507000													30	91					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879751	27879751	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:27879751G>T	ENST00000303324.2	-	1	423	c.347C>A	c.(346-348)gCc>gAc	p.A116D		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GCACATGACGGCCAGGAGAAG	0.483000													23	63					4.54149e-19	5.34292e-19	1	1	0
DENND4A	10260	broad.mit.edu	37	15	65995210	65995210	+	Splice_Site	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr15:65995210C>T	ENST00000443035.3	-	16	2439		c.e16+1		DENND4A_ENST00000431932.2_Splice_Site	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGATAAAGTACCTGTTTTGTT	0.313000													28	71					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	425405	425405	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:425405C>T	ENST00000431232.2	-	7	1415	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	TMEM8A_ENST00000250930.3_Missense_Mutation_p.A226T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	419					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TTCACGCAGGCCACTACGACG	0.647000													18	52					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33774785	33774785	+	Silent	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:33774785C>G	ENST00000403687.3	+	14	2249	c.1509C>G	c.(1507-1509)ctC>ctG	p.L503L	RASGRP3_ENST00000407811.1_Silent_p.L502L|RASGRP3_ENST00000402538.3_Silent_p.L503L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	503					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGACCTATCTCAAGCCAACCT	0.393000													7	25					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220435066	220435066	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:220435066C>G	ENST00000404537.1	-	1	945	c.889G>C	c.(889-891)Gac>Cac	p.D297H	OBSL1_ENST00000373873.4_Missense_Mutation_p.D297H|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.D297H|OBSL1_ENST00000265318.4_Missense_Mutation_p.D297H|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000603926.1_Missense_Mutation_p.D297H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	297	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGTCGCGGTCGCGGTACATG	0.692000													6	21					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865871	118865871	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:118865871G>A	ENST00000295622.1	+	1	875	c.835G>A	c.(835-837)Gct>Act	p.A279T		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	279										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CTACAGATTGGCTGGCCTGGC	0.493000													30	59					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231344819	231344819	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:231344819G>A	ENST00000444294.3	+	8	2798	c.1940G>A	c.(1939-1941)gGc>gAc	p.G647D	TRIM67_ENST00000449018.3_Missense_Mutation_p.G587D|TRIM67_ENST00000366653.5_Missense_Mutation_p.G649D|TRIM67_ENST00000366652.2_Missense_Mutation_p.G649D	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	649	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TTCTCCAAGGGCGTGCACTAC	0.622000													29	63					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526949	23526949	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:23526949G>A	ENST00000296682.3	+	11	1934	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	584					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCTGCAGGGAGTGTGGGCGGG	0.592000										HNSCC(3;0.000094)			20	73					0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654748	161654748	+	RNA	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:161654748C>T	ENST00000426558.1	-	0	294					NR_002595.1																						CAGCCGCACACGGATTCGGTA	0.448000													14	23					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543760	141543760	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr4:141543760C>T	ENST00000442267.2	-	21	3464	c.3390G>A	c.(3388-3390)atG>atA	p.M1130I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1130						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGATGTCCTCCATTTGTCCTC	0.632000													22	66					0	0	1	0	0
TLCD1	116238	broad.mit.edu	37	17	27051812	27051812	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:27051812G>A	ENST00000292090.3	-	4	570	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	TLCD1_ENST00000394933.3_Missense_Mutation_p.R107C	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	154	TLC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					ATCATCATGCGAATGGTGAGG	0.507000													73	103					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690703	33690703	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:33690703C>G	ENST00000394566.1	-	4	396	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	SLFN11_ENST00000308377.4_Missense_Mutation_p.E42Q	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	42						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTCCTTCTCTTGGTCTCTC	0.468000													95	103					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685628	248685628	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:248685628G>A	ENST00000343414.4	+	1	713	c.681G>A	c.(679-681)agG>agA	p.R227R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTGTTAAGGATAAAATCAG	0.463000													24	57					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753497	76753497	+	Silent	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr18:76753497G>T	ENST00000536229.3	+	1	1816	c.1107G>T	c.(1105-1107)tcG>tcT	p.S369S	SALL3_ENST00000575389.2_Silent_p.S502S|SALL3_ENST00000537592.2_Silent_p.S502S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACGGCATGTCGCTGCCCCCCG	0.672000													5	11					0.014758	0.015192	1	1	0
HYKK	123688	broad.mit.edu	37	15	78807440	78807440	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr15:78807440G>A	ENST00000566332.1	+	3	528	c.468G>A	c.(466-468)aaG>aaA	p.K156K	HYKK_ENST00000563233.1_Silent_p.K156K|HYKK_ENST00000569878.1_Silent_p.K156K|HYKK_ENST00000408962.2_Silent_p.K156K|HYKK_ENST00000360519.3_Silent_p.K156K|HYKK_ENST00000388988.4_Silent_p.K156K					hydroxylysine kinase																		AATTGGATAAGACACTGCAGG	0.393000													10	34					0	0	1	0	0
METTL15	196074	broad.mit.edu	37	11	28311783	28311783	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:28311783C>T	ENST00000342303.5	+	5	893	c.438C>T	c.(436-438)ttC>ttT	p.F146F	METTL15_ENST00000407364.3_Silent_p.F146F|METTL15_ENST00000303459.6_Silent_p.F146F|METTL15_ENST00000406787.3_Silent_p.F146F	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN	methyltransferase like 15	146							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						TGGGCCAGTTCAGCCAGGCAG	0.428000													17	22					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794777	124794777	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:124794777G>A	ENST00000298251.4	-	2	679	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	92	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TAGTCAGGCCGCAGGGTGCCG	0.592000													53	49					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:7577082C>A	ENST00000420246.2	-	8	988	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	17					1.99824e-07	2.18557e-07	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80746082	80746082	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:80746082C>T	ENST00000458043.2	+	44	5252	c.5246C>T	c.(5245-5247)cCg>cTg	p.P1749L	OTOGL_ENST00000547103.1_Missense_Mutation_p.P1737L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAGGTTTCACCGGAAGACTTT	0.343000													6	20					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78214075	78214075	+	RNA	SNP	T	T	C	rs4886971	by1000genomes	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr15:78214075T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CTAACTGCTCTGTTTGTGCTT	0.493000													6	84					0	0	1	0	0
ZNF436	80818	broad.mit.edu	37	1	23689182	23689182	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:23689182G>C	ENST00000314011.4	-	4	829	c.693C>G	c.(691-693)ttC>ttG	p.F231L	ZNF436_ENST00000374608.3_Missense_Mutation_p.F231L|ZNF436_ENST00000374609.1_Missense_Mutation_p.F231L	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGAGACGGCAGAAACTTTTTC	0.478000													53	68					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579091	55579091	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:55579091A>T	ENST00000333973.2	+	1	238	c.149A>T	c.(148-150)cAg>cTg	p.Q50L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCACTGATTCAGGTCAGCTCT	0.483000													67	259					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21246459	21246459	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:21246459T>A	ENST00000233242.1	-	17	2669	c.2542A>T	c.(2542-2544)Ata>Tta	p.I848L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	848					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATGAAGATATTTGCAACTGT	0.428000													30	63					0	0	1	0	0
RNPS1	10921	broad.mit.edu	37	16	2312322	2312322	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:2312322C>G	ENST00000565678.1	-	6	1178	c.633G>C	c.(631-633)gaG>gaC	p.E211D	RNPS1_ENST00000561718.1_Missense_Mutation_p.E34D|RNPS1_ENST00000568631.1_Missense_Mutation_p.E211D|RNPS1_ENST00000320225.5_Missense_Mutation_p.E211D|AC009065.1_ENST00000454671.1_Missense_Mutation_p.F172L|RNPS1_ENST00000569598.2_Missense_Mutation_p.E117D|RNPS1_ENST00000566458.1_Missense_Mutation_p.E188D|RNPS1_ENST00000397086.2_Missense_Mutation_p.E211D|RNPS1_ENST00000301730.8_Missense_Mutation_p.E211D|RNPS1_ENST00000566397.1_Missense_Mutation_p.E34D|RNPS1_ENST00000567147.1_Missense_Mutation_p.E188D			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	211	Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						CATCTGGATTCTCAAACTCTA	0.527000													27	78					0	0	1	0	0
ZNF436	80818	broad.mit.edu	37	1	23688749	23688749	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:23688749G>A	ENST00000314011.4	-	4	1262	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	ZNF436_ENST00000374608.3_Missense_Mutation_p.H376Y|ZNF436_ENST00000374609.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GTGATGAGATGAGAGCTCCGG	0.453000													29	63					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144854605	144854605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:144854605G>A	ENST00000369359.4	-	45	7311	c.7273C>T	c.(7273-7275)Cag>Tag	p.Q2425*	PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q2374*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q2289*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q2289*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q2183*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2289					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTCGCTCCTGTTTGGATACT	0.493000			T	PDGFRB	MPD								22	137					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95734729	95734729	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr5:95734729G>T	ENST00000311106.3	-	11	1679	c.1442C>A	c.(1441-1443)gCt>gAt	p.A481D	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.A434D	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	481					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTCCATTAGCTTTCAGGGC	0.348000													4	24					0.00909568	0.00943256	1	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070019	57070019	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:57070019T>C	ENST00000532437.1	-	6	4908	c.4597A>G	c.(4597-4599)Agc>Ggc	p.S1533G	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1533G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1533	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCCTGATCGCTCCACCTGGCT	0.642000													5	20					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268938	1268938	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr11:1268938G>A	ENST00000447027.1	+	31	10895	c.10837G>A	c.(10837-10839)Gag>Aag	p.E3613K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.E3610K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3610	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCAGTCTGTGAGCAGCCCCT	0.677000													10	58					0	0	1	0	0
CYR61	3491	broad.mit.edu	37	1	86047778	86047778	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:86047778C>T	ENST00000451137.2	+	3	669	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	149	VWFC.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TCCCAACCCTCGGCTGGTCAA	0.567000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	82					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57136546	57136546	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:57136546C>T	ENST00000296318.7	-	10	1028	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	IL17RD_ENST00000463523.1_Missense_Mutation_p.A170T|IL17RD_ENST00000427856.2_Missense_Mutation_p.A290T|IL17RD_ENST00000320057.5_Missense_Mutation_p.A170T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	314						Golgi membrane|integral to membrane|plasma membrane	receptor activity	p.A170T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AAGAGCGTCGCGAATGCCGAT	0.557000													15	25					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835116	172835116	+	Missense_Mutation	SNP	G	G	A	rs144595913		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr3:172835116G>A	ENST00000351008.3	-	2	589	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	136					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTCATAGCGAACACCCATT	0.418000													45	101					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33405967	33405967	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:33405967C>T	ENST00000418600.2	+	8	1386	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R429W|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R370W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	429					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAACCATTATCGGATGCTGTG	0.522000													50	115					0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86338237	86338237	+	Splice_Site	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:86338237G>T	ENST00000254630.7	+	4	262	c.194_splice	c.e4-1	p.D66_splice	PTCD3_ENST00000465560.1_3'UTR|PTCD3_ENST00000409277.3_Splice_Site_p.D66_splice	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	66						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TATTTTTAGGGATAAAGTAGC	0.383000													9	26					3.09899e-07	3.36324e-07	1	1	0
ZNF404	342908	broad.mit.edu	37	19	44377478	44377478	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:44377478C>T	ENST00000587539.1	-	3	887	c.888G>A	c.(886-888)gaG>gaA	p.E296E	ZNF404_ENST00000324394.6_Silent_p.E294E	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TATATGGTTTCTCACCAGAAT	0.363000													11	17					0	0	1	0	0
NUDT4	11163	broad.mit.edu	37	12	93789270	93789270	+	Silent	SNP	A	A	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:93789270A>G	ENST00000337179.5	+	3	656	c.216A>G	c.(214-216)ggA>ggG	p.G72G	NUDT4_ENST00000548662.1_Silent_p.G20G|NUDT4_ENST00000547014.1_Silent_p.G20G|NUDT4_ENST00000549992.1_Silent_p.G20G|NUDT4_ENST00000415493.2_Silent_p.G72G	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	72	Nudix hydrolase.				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						AATAGGCTGGAGTCAAAGGAA	0.279000													4	34					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44185127	44185127	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:44185127C>T	ENST00000403799.3	-	9	1691	c.1222G>A	c.(1222-1224)Gtg>Atg	p.V408M	GCK_ENST00000437084.1_Missense_Mutation_p.V391M|GCK_ENST00000395796.3_Missense_Mutation_p.V407M|GCK_ENST00000345378.2_Missense_Mutation_p.V409M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	408					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GAGCCATCCACGCCCACAGTG	0.672000													4	13					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156566266	156566266	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:156566266G>T	ENST00000368232.4	-	6	470	c.338C>A	c.(337-339)gCt>gAt	p.A113D	GPATCH4_ENST00000438976.2_Missense_Mutation_p.A118D|GPATCH4_ENST00000497287.1_5'UTR	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	113						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTCAATGTAGCCATCTAGGA	0.502000													32	73					3.1745e-13	3.64286e-13	1	1	0
GGTLC2	91227	broad.mit.edu	37	22	22989341	22989341	+	Silent	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr22:22989341C>T	ENST00000448514.1	+	2	294	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC2_ENST00000480559.1_Silent_p.F98F			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	98					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CTGCCAATTTCATCCAGCCAG	0.612000													64	75					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46678285	46678285	+	Silent	SNP	C	C	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:46678285C>A	ENST00000274793.7	-	8	970	c.774G>T	c.(772-774)ctG>ctT	p.L258L	PLA2G7_ENST00000538237.1_Silent_p.L213L|PLA2G7_ENST00000541026.1_Silent_p.L131L|PLA2G7_ENST00000537365.1_Silent_p.L258L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	258					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGCTTACCTTCAGTTGTTCCA	0.318000													14	37					4.36969e-10	4.89405e-10	1	1	0
STAG3L4	64940	broad.mit.edu	37	7	66767786	66767786	+	RNA	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:66767786C>T	ENST00000416602.2	+	0	179					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CGCGCCTCTCCGTGTGGAGCT	0.647000													6	12					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164516	12164516	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:12164516C>T	ENST00000379388.2	+	9	8311	c.7979C>T	c.(7978-7980)aCg>aTg	p.T2660M	HIVEP1_ENST00000541134.1_Missense_Mutation_p.T525M	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2660					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCAGCGTCCACGTCACAACCT	0.537000													18	29					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20296808	20296808	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:20296808C>G	ENST00000335117.8	+	3	227	c.170C>G	c.(169-171)tCt>tGt	p.S57C	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.S57C	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATTATTGTCTCTAAGCCAGAC	0.363000													7	43					0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89744605	89744605	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:89744605A>T	ENST00000279488.7	-	2	1829	c.598T>A	c.(598-600)Tcc>Acc	p.S200T	DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547291.1_Missense_Mutation_p.S75T|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	200					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TGGCTGTTGGACAGCGGACTA	0.572000													20	83					0	0	1	0	0
LDOC1	23641	broad.mit.edu	37	X	140271160	140271160	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:140271160T>C	ENST00000370526.2	-	1	150	c.47A>G	c.(46-48)cAc>cGc	p.H16R	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	16					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CAGGGCGCGGTGCCGCATCAG	0.672000													12	6					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125262112	125262112	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr2:125262112C>G	ENST00000431078.1	+	8	1667	c.1303C>G	c.(1303-1305)Cgc>Ggc	p.R435G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	435	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATGACAGAACGCGTAGCTGA	0.507000													12	14					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058892	81058892	+	Silent	SNP	G	G	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr10:81058892G>A	ENST00000334512.5	+	16	2324	c.1752G>A	c.(1750-1752)gcG>gcA	p.A584A		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	584					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACAACCTGGCGGTCAGCAACC	0.667000													11	29					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133672	177133672	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:177133672G>C	ENST00000367654.2	-	1	154	c.141C>G	c.(139-141)ttC>ttG	p.F47L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.F47L|ASTN1_ENST00000424564.2_Missense_Mutation_p.F47L|ASTN1_ENST00000361833.2_Missense_Mutation_p.F47L			O14525	ASTN1_HUMAN	astrotactin 1	47					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCGCGCAGGAAGGGCAGTG	0.667000													3	20					0	0	1	0	0
TRBV30	28557	broad.mit.edu	37	7	142510484	142510484	+	RNA	SNP	G	G	T			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr7:142510484G>T	ENST00000417977.2	-	0	233																											TCCCTCCACAGTGCACTCCAG	0.572000													3	7					1	1	1	1	0
HIST1H1E	3008	broad.mit.edu	37	6	26157199	26157199	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:26157199T>C	ENST00000304218.3	+	1	641	c.581T>C	c.(580-582)gTt>gCt	p.V194A		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	194					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCCAAAGCAGTTAAACCCAAG	0.552000													13	23					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31478756	31478774	+	Frame_Shift_Del	DEL	CCATGCTAACGCCTAGTCC	CCATGCTAACGCCTAGTCC	-			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:31478756_31478774delCCATGCTAACGCCTAGTCC	ENST00000373747.3	-	5	745_763	c.646_664delGGACTAGGCGTTAGCATGG	c.(646-666)tgfs	p.GLGVSMV216fs	PUM1_ENST00000257075.5_Frame_Shift_Del_p.GLGVSMV216fs|PUM1_ENST00000426105.2_Frame_Shift_Del_p.GLGVSMV216fs|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000440538.2_Frame_Shift_Del_p.GLGVSMV216fs|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000373741.4_Frame_Shift_Del_p.GLGVSMV252fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	216					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ACATACTCCACCATGCTAACGCCTAGTCCCCCACTCTCC	0.498													10	60	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120464983	120464983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr1:120464983delC	ENST00000256646.2	-	28	5308	c.5089delG	c.(5089-5091)tafs	p.V1697fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1697					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.V1697fs*9(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCATGATTACCCCCAGCAGA	0.498			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				12	31	---	---	---	---					
GPR110	266977	broad.mit.edu	37	6	46993670	46993686	+	Frame_Shift_Del	DEL	CTCAAATCTCTTTTCTC	CTCAAATCTCTTTTCTC	-			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr6:46993670_46993686delCTCAAATCTCTTTTCTC	ENST00000371253.2	-	4	396_412	c.181_197delGAGAAAAGAGATTTGAG	c.(181-198)afs	p.EKRDLR61fs	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Frame_Shift_Del_p.EKRDLR61fs	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	61					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAGAAAATTTCTCAAATCTCTTTTCTCCTTGGAATCT	0.433													17	37	---	---	---	---					
BHLHE22	27319	broad.mit.edu	37	8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-	rs62519837		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggc>g	p.GS225del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	225	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709													3	3	---	---	---	---					
ETV6	2120	broad.mit.edu	37	12	11992150	11992153	+	Frame_Shift_Del	DEL	GCCA	GCCA	-			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr12:11992150_11992153delGCCA	ENST00000396373.4	+	3	514_517	c.240_243delGCCA	c.(238-243)agfs	p.RP80fs		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	80	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TTTCTTTAAGGCCAATTGACAGCA	0.490			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								14	42	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													2	4	---	---	---	---					
LOC100287072	100287072	broad.mit.edu	37	17	20623668	20623668	+	RNA	DEL	T	T	-	rs151078009		TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:20623668delT	ENST00000578210.1	+	0	150					NR_073509.1																						gcccggctaattttttttttt	0.572													2	4	---	---	---	---					
HELZ	9931	broad.mit.edu	37	17	65103618	65103620	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr17:65103618_65103620delATC	ENST00000358691.5	-	31	5072_5074	c.4906_4908delGAT	c.(4906-4908)del	p.D1636del	HELZ_ENST00000580168.1_In_Frame_Del_p.D1637del	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTGCTGTTATCATTAAAGTTA	0.473													21	189	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16923646	16923655	+	Frame_Shift_Del	DEL	TGGAGTGTGC	TGGAGTGTGC	-			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr19:16923646_16923655delTGGAGTGTGC	ENST00000552788.1	+	17	4378_4387	c.4378_4387delTGGAGTGTGC	c.(4378-4389)tgfs	p.WSVL1460fs	NWD1_ENST00000524140.2_Intron|NWD1_ENST00000549814.1_Frame_Shift_Del_p.WSVL1418fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.WSVL1325fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.WSVL1254fs|NWD1_ENST00000379808.3_Intron			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1460							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATACTTGTTTGGAGTGTGCTGGATGGTGA	0.495													17	101	---	---	---	---					
PTPN1	5770	broad.mit.edu	37	20	49195168	49195169	+	Splice_Site	INS	-	-	A			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chr20:49195168_49195169insA	ENST00000371621.3	+	6	876		c.e6+2		PTPN1_ENST00000541713.1_Splice_Site	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1						blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CTCTTGCTGGTAAGGAGGCCCT	0.584													16	32	---	---	---	---					
FAM9A	171482	broad.mit.edu	37	X	8763181	8763183	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CX-A4AQ-01A-11D-A25D-08	TCGA-CX-A4AQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5978c70-1a43-4ba1-9891-97eac8d1aac4	ce1d99b6-5d2c-4a25-8942-0d1a31d0457d	g.chrX:8763181_8763183delCTC	ENST00000543214.1	-	7	902_904	c.767_769delGAG	c.(766-771)gaa>g	p.GE258del	FAM9A_ENST00000381003.3_In_Frame_Del_p.GE258del	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	258	Glu-rich.|Poly-Gly.					nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcttctccttctcctcctcctcc	0.448													2	4	---	---	---	---