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
FAF1	11124	broad.mit.edu	37	1	51001131	51001131	+	Splice_Site	SNP	T	T	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:51001131T>C	uc001cse.1	-	15	1859	c.1406_splice	c.e15-1	p.G469_splice	FAF1_uc009vyw.1_Splice_Site|FAF1_uc010onc.1_Splice_Site_p.G227_splice	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	469					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTGTTCCCTAAAAACATAT	0.323												
MAB21L3	126868	broad.mit.edu	37	1	116666896	116666896	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:116666896C>T	uc001egc.1	+	3	664	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	133										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						ATGTGAACATCGACGGAGACA	0.557												
ASTN1	460	broad.mit.edu	37	1	176993825	176993825	+	Silent	SNP	C	C	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:176993825C>A	uc001glc.3	-	5	1376	c.1164G>T	c.(1162-1164)ctG>ctT	p.L388L	ASTN1_uc001glb.1_Silent_p.L388L|ASTN1_uc001gld.1_Silent_p.L388L|ASTN1_uc009wwx.1_Silent_p.L388L|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	388					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						TGATGCTGATCAGGGTCAAGG	0.512												
PROX1	5629	broad.mit.edu	37	1	214209144	214209144	+	Silent	SNP	C	C	G			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:214209144C>G	uc001hkh.3	+	4	2453	c.2181C>G	c.(2179-2181)tcC>tcG	p.S727S		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	727	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTTTCAAATCCCCGAACTGCC	0.423												
PARP1	142	broad.mit.edu	37	1	226558164	226558164	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:226558164C>T	uc001hqd.4	-	14	2296	c.2125G>A	c.(2125-2127)Gca>Aca	p.A709T		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	709	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ATGGAGTATGCGGCCTGGATC	0.597								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA				
AKR1C4	1109	broad.mit.edu	37	10	5238864	5238864	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:5238864G>A	uc001ihw.2	+	0	67	c.34G>A	c.(34-36)Gat>Aat	p.D12N		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	12					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	AGAGCTAAATGATGGTCACTT	0.418												
TAF3	83860	broad.mit.edu	37	10	8006394	8006394	+	Silent	SNP	A	A	G			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:8006394A>G	uc010qbd.2	+	2	921	c.921A>G	c.(919-921)aaA>aaG	p.K307K		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	307					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTGTATCCAAAGAAAAGAAAT	0.493												
OPN4	94233	broad.mit.edu	37	10	88419055	88419055	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:88419055C>T	uc010qmk.1	+	6	889	c.662_splice	c.e6-1	p.S221_splice	OPN4_uc001kdp.3_Splice_Site_p.S221_splice|OPN4_uc001kdq.3_Splice_Site_p.S210_splice|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	210					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGCTCCCAGGCGCCTACGTGC	0.622												
LOC729020	729020	broad.mit.edu	37	10	105005758	105005758	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:105005758C>T	uc009xxi.2	+	0	115	c.5C>T	c.(4-6)gCg>gTg	p.A2V	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	2					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										AGCGGTATGGCGTCGGGCTGC	0.522												
OR52M1	119772	broad.mit.edu	37	11	4566916	4566916	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:4566916C>T	uc010qyf.2	+	0	496	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGATGATCCGCCTGCGGCT	0.522												
MRVI1	10335	broad.mit.edu	37	11	10647541	10647541	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:10647541C>G	uc010rcc.1	-	8	1726	c.1340G>C	c.(1339-1341)cGg>cCg	p.R447P	MRVI1_uc010rcb.1_Missense_Mutation_p.R439P|MRVI1_uc001miw.2_Missense_Mutation_p.R438P|MRVI1_uc001mix.3_Missense_Mutation_p.R132P|MRVI1_uc001miz.2_Missense_Mutation_p.R356P|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Missense_Mutation_p.R132P|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	420					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTTCTGCATCCGCACGGGCTG	0.597												
HTR3A	3359	broad.mit.edu	37	11	113853896	113853896	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:113853896C>T	uc010rxb.2	+	4	680	c.447C>T	c.(445-447)ggC>ggT	p.G149G	HTR3A_uc010rxa.2_Silent_p.G149G|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.G128G	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	143					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.K149R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GGCATCAAGGCGAAGTTCAGA	0.537												
CPNE8	144402	broad.mit.edu	37	12	39155951	39155951	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:39155951T>A	uc001rls.1	-	8	727	c.643A>T	c.(643-645)Atc>Ttc	p.I215F		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	215	C2 2.							p.K214N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGACTGAGATCTTGAATGCT	0.308												
KIF21A	55605	broad.mit.edu	37	12	39726188	39726188	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:39726188C>A	uc001rly.3	-	20	3299	c.2879G>T	c.(2878-2880)aGa>aTa	p.R960I	KIF21A_uc001rlv.3_5'UTR|KIF21A_uc001rlw.3_Missense_Mutation_p.R277I|KIF21A_uc001rlx.3_Missense_Mutation_p.R947I|KIF21A_uc001rlz.3_Missense_Mutation_p.R924I|KIF21A_uc010skl.2_Missense_Mutation_p.R947I	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	960					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTCTCTCGTCTTTTTGTGAG	0.398												
GRIP1	23426	broad.mit.edu	37	12	66838466	66838466	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:66838466C>T	uc001stk.3	-	11	1670	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	GRIP1_uc010sta.1_Missense_Mutation_p.G421R|GRIP1_uc001stj.3_Missense_Mutation_p.G259R|GRIP1_uc001stm.3_Missense_Mutation_p.G477R|GRIP1_uc001stl.1_Missense_Mutation_p.G369R	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	529	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GTTGGAATTCCATTGATGGCC	0.458												
OAS2	4939	broad.mit.edu	37	12	113435338	113435338	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:113435338T>A	uc001tuj.3	+	3	781	c.641T>A	c.(640-642)aTc>aAc	p.I214N	OAS2_uc001tui.1_Missense_Mutation_p.I214N	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	214	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGAAAAAAATCAAGGATTTA	0.488												
ULK1	8408	broad.mit.edu	37	12	132379629	132379629	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:132379629C>T	uc001uje.3	+	0	351	c.83C>T	c.(82-84)gCg>gTg	p.A28V		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	28	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGCGCCTTCGCGGTGGTCTTC	0.751												
KLHL1	57626	broad.mit.edu	37	13	70314591	70314591	+	Silent	SNP	T	T	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr13:70314591T>C	uc001vip.3	-	7	2531	c.1737A>G	c.(1735-1737)caA>caG	p.Q579Q	KLHL1_uc010thm.2_Silent_p.Q518Q	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	579					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Q579K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAATGTCCATTGTTGACTCT	0.413												
CLEC14A	161198	broad.mit.edu	37	14	38723832	38723832	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr14:38723832C>A	uc001wum.1	-	0	1743	c.1396G>T	c.(1396-1398)Gtc>Ttc	p.V466F		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	466						integral to membrane	sugar binding	p.V466V(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CAGTCCCCGACTTTCACCCCA	0.602												
NR2F2	7026	broad.mit.edu	37	15	96877485	96877485	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr15:96877485G>C	uc010uri.2	+	1	1847	c.623G>C	c.(622-624)gGt>gCt	p.G208A	NR2F2_uc002btp.3_Missense_Mutation_p.G75A|NR2F2_uc010urj.2_Missense_Mutation_p.G55A|NR2F2_uc010urk.2_Missense_Mutation_p.G55A	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	208	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AACATCATGGGTATCGAGAAC	0.602												
KRTAP4-7	100132476	broad.mit.edu	37	17	39240900	39240900	+	Missense_Mutation	SNP	T	T	G	rs61746948		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr17:39240900T>G	uc010wfn.2	+	0	442	c.442T>G	c.(442-444)Ttg>Gtg	p.L148V		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TCCCCGCCCCTTGTGCTGTGC	0.627												
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	T	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr17:39240908T>C	uc010wfn.2	+	0	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.C150C(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTTGTGCTGTGCCTCCTCTT	0.607												
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr17:39261693A>T	uc010wfp.2	+	0	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	18						keratin filament		p.D18V(2)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627												
CDKN2D	1032	broad.mit.edu	37	19	10678076	10678076	+	Silent	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:10678076G>A	uc002mpa.3	-	1	461	c.159C>T	c.(157-159)agC>agT	p.S53S	KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.3_Silent_p.S53S	NM_001800	NP_524145	P55273	CDN2D_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) (CDKN2D), transcript variant 1, mRNA.	53					anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CGATGGCGGTGCTGCCAAACA	0.592												
CYP4F11	57834	broad.mit.edu	37	19	16025181	16025181	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:16025181C>T	uc002nbu.2	-	11	1367	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	CYP4F11_uc010eab.1_Silent_p.P422P|CYP4F11_uc002nbt.2_Missense_Mutation_p.R444H	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	444					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TTGGTCGAAACGGAAGGGGTC	0.587												
HKR1	284459	broad.mit.edu	37	19	37853365	37853365	+	Missense_Mutation	SNP	G	G	A	rs112164866		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:37853365G>A	uc002ogb.3	+	5	937	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	HKR1_uc002ofx.3_5'UTR|HKR1_uc002ofy.3_5'UTR|HKR1_uc002oga.3_Missense_Mutation_p.R205Q|HKR1_uc010xto.2_Missense_Mutation_p.R205Q|HKR1_uc002ogc.3_Missense_Mutation_p.R204Q|HKR1_uc010xtp.2_Missense_Mutation_p.R162Q|HKR1_uc002ogd.3_Missense_Mutation_p.R162Q	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	223					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCCTGAACGGAGGGCAGAT	0.468												
CRX	1406	broad.mit.edu	37	19	48342915	48342915	+	Silent	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:48342915G>A	uc002phq.4	+	3	795	c.591G>A	c.(589-591)ccG>ccA	p.P197P		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	197					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P197P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCTACGCCCCGGCCTCCGCTT	0.672												
TPO	7173	broad.mit.edu	37	2	1480946	1480946	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:1480946C>T	uc002qwr.3	+	7	994	c.908C>T	c.(907-909)gCg>gTg	p.A303V	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.A303V|TPO_uc002qwx.3_Missense_Mutation_p.A303V|TPO_uc002qwu.3_Missense_Mutation_p.A303V|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Missense_Mutation_p.A303V	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	303					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCAAGGCGCGCTCTTTGGG	0.706												
APOB	338	broad.mit.edu	37	2	21233706	21233706	+	Nonsense_Mutation	SNP	G	G	A	rs147863759		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:21233706G>A	uc002red.3	-	25	6162	c.6034C>T	c.(6034-6036)Cga>Tga	p.R2012*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2012					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)	GCCAGAGTTCGTCCAGTAAGC	0.428												
THSD7B	80731	broad.mit.edu	37	2	137988734	137988734	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:137988734A>C	uc002tva.1	+	6	1751	c.1751A>C	c.(1750-1752)cAg>cCg	p.Q584P	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.Q474P	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTGTTCCCAGTCCTGTTCA	0.507												
R3HDML	140902	broad.mit.edu	37	20	42979302	42979302	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr20:42979302G>A	uc002xls.1	+	4	804	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	211						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TCTTCCAGGGGCAACTGGATT	0.567												
MPPED1	758	broad.mit.edu	37	22	43831125	43831125	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr22:43831125C>T	uc011apz.2	+	2	836	c.495C>T	c.(493-495)aaC>aaT	p.N165N	MPPED1_uc011apv.2_Silent_p.N132N|MPPED1_uc011apw.2_Silent_p.N26N|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Silent_p.N132N	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	132							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				AGAAGTTCAACGAGTGGCTGG	0.682												
ITIH3	3699	broad.mit.edu	37	3	52828907	52828907	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr3:52828907C>T	uc003dfv.2	+	0	124	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	ITIH3_uc011bek.1_Missense_Mutation_p.L30F	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	30	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTTCGGCTGCTTGGGGTGAG	0.587												
DPPA4	55211	broad.mit.edu	37	3	109046840	109046840	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr3:109046840C>T	uc003dxq.4	-	6	965	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	DPPA4_uc011bho.2_3'UTR	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	304						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ATATTCTATTCCCATTGGAGG	0.373												
BOD1L1	259282	broad.mit.edu	37	4	13605551	13605551	+	Silent	SNP	T	T	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr4:13605551T>C	uc003gmz.1	-	9	3090	c.2973A>G	c.(2971-2973)agA>agG	p.R991R	BOD1L1_uc010idr.1_Silent_p.R328R	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	991	Lys-rich.						DNA binding										GTAACTTGGCTCTATGACTAG	0.403												
NUP54	53371	broad.mit.edu	37	4	77069476	77069476	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr4:77069476T>G	uc003hjs.3	-	0	180	c.52A>C	c.(52-54)Acc>Ccc	p.T18P	NUP54_uc010ije.3_5'UTR|NUP54_uc011cbs.2_5'UTR|NUP54_uc011cbt.2_Missense_Mutation_p.T18P|NUP54_uc003hjt.3_5'UTR	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	18	9 X 2 AA repeats of F-G.|Gly-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						GGGGCCGCGGTGGCTGCAGCG	0.667												
PET112	5188	broad.mit.edu	37	4	152680061	152680061	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr4:152680061C>T	uc003iml.3	-	1	231	c.190G>A	c.(190-192)Gct>Act	p.A64T	PET112_uc003imm.4_Missense_Mutation_p.A64T	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	64						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACCACAGCAGCCCATTTGTGT	0.363												
EGR1	1958	broad.mit.edu	37	5	137803130	137803130	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:137803130C>T	uc003ldb.1	+	1	1262	c.992C>T	c.(991-993)aCg>aTg	p.T331M		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	331					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCAGCAAGACGCCCCCCCAC	0.652												
PCDHAC2	56145	broad.mit.edu	37	5	140181750	140181750	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:140181750C>T	uc003lhf.2	+	0	968	c.968C>T	c.(967-969)aCg>aTg	p.T323M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.T323M	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	338	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGAAGCCACGGATAAAGGA	0.378												
ARAP3	64411	broad.mit.edu	37	5	141041300	141041300	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:141041300G>A	uc003llm.3	-	20	3148	c.3070C>T	c.(3070-3072)Ccg>Tcg	p.P1024S	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.P686S|ARAP3_uc003lln.3_Missense_Mutation_p.P855S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1024	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTGACCCGCGGCAGGCAGCCA	0.572												
SH3RF2	153769	broad.mit.edu	37	5	145428731	145428731	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:145428731C>T	uc003lnt.3	+	6	1483	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	SH3RF2_uc011dbl.1_Silent_p.D415D|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	415	SH3 3.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGCCAGGACGGCTGGCTCA	0.597											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PRSS16	10279	broad.mit.edu	37	6	27216987	27216987	+	Missense_Mutation	SNP	G	G	A	rs145240806		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:27216987G>A	uc003nja.3	+	3	461	c.446G>A	c.(445-447)cGc>cAc	p.R149H	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Missense_Mutation_p.R39H|PRSS16_uc010jqr.1_Missense_Mutation_p.R39H|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	149					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCAGCTCCGCTTCTTGTCC	0.562												
HIST1H2BO	8348	broad.mit.edu	37	6	27861564	27861564	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:27861564C>T	uc003nkc.1	+	0	362	c.324C>T	c.(322-324)gcC>gcT	p.A108A	HIST1H3J_uc003nka.3_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	NM_003527	NP_003518	P23527	H2B1O_HUMAN	Homo sapiens histone cluster 1, H2bo (HIST1H2BO), mRNA.	108					nucleosome assembly	nucleosome|nucleus	DNA binding										GGGAGCTGGCCAAGCACGCCG	0.637												
OR2J3	442186	broad.mit.edu	37	6	29080293	29080293	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:29080293T>C	uc011dll.2	+	0	626	c.626T>C	c.(625-627)tTt>tCt	p.F209S		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209C(2)|p.I208T(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AGCTCCATATTTGTTCTCATA	0.448												
ZBTB12	221527	broad.mit.edu	37	6	31868436	31868436	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:31868436G>A	uc003nyd.1	-	1	823	c.647C>T	c.(646-648)gCc>gTc	p.A216V	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Missense_Mutation_p.A216V|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CACCTCCAGGGCCGACTCCAC	0.627												
ZNF318	24149	broad.mit.edu	37	6	43325085	43325085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:43325085G>A	uc003oux.3	-	2	1045	c.967C>T	c.(967-969)Cga>Tga	p.R323*	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	323					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.R322R(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTCGCTTTCGTCTGGCAAGA	0.522												
IMPG1	3617	broad.mit.edu	37	6	76782168	76782169	+	Frame_Shift_Ins	INS	-	-	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:76782168_76782169insA	uc003pik.1	-	0	167_168	c.37_38insT	c.(37-39)tggfs	p.W13fs		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	13					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAGAAAAATCCAAAAAACAAAA	0.287												
TNPO3	23534	broad.mit.edu	37	7	128612562	128612562	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:128612562G>A	uc010lly.2	-	18	2853	c.2450C>T	c.(2449-2451)tCt>tTt	p.S817F	TNPO3_uc010llx.2_Missense_Mutation_p.S194F|TNPO3_uc003vol.2_Missense_Mutation_p.S783F|TNPO3_uc010llz.2_Missense_Mutation_p.S719F|TNPO3_uc003vom.2_Missense_Mutation_p.S717F	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	783					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CAGGGTAGTAGAGGCAATGGC	0.478												
PARP12	64761	broad.mit.edu	37	7	139746776	139746776	+	Silent	SNP	C	C	T	rs147556524		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:139746776C>T	uc003vvl.1	-	4	1768	c.894G>A	c.(892-894)ccG>ccA	p.P298P	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	298	WWE 1.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	p.P298P(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GCCATCGATACGGCAAATGGA	0.403												
NOBOX	135935	broad.mit.edu	37	7	144097327	144097327	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:144097327G>A	uc022aoj.1	-	4	923	c.923C>T	c.(922-924)aCg>aTg	p.T308M		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	308					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CACCCCCACCGTCTGGGCAAT	0.552												
ZNF282	8427	broad.mit.edu	37	7	148920939	148920940	+	Frame_Shift_Ins	INS	-	-	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:148920939_148920940insC	uc003wfm.3	+	7	1321_1322	c.1216_1217insC	c.(1216-1218)gccfs	p.A406fs	ZNF282_uc011kun.1_Frame_Shift_Ins_p.A406fs|ZNF282_uc003wfo.3_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	406					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		cccacccccggccccgccacag	0.703												
XKR4	114786	broad.mit.edu	37	8	56270319	56270319	+	Silent	SNP	A	A	G			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr8:56270319A>G	uc003xsf.3	+	1	920	c.888A>G	c.(886-888)gtA>gtG	p.V296V		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	296						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGAAAATGGTATATGAGTATG	0.438												
CPSF1	29894	broad.mit.edu	37	8	145624369	145624369	+	Silent	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr8:145624369G>A	uc003zcj.3	-	15	1602	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	509					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACAAAGCCCCGTTCTTCCCGT	0.677												
ASS1	445	broad.mit.edu	37	9	133342180	133342180	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr9:133342180C>T	uc010mza.3	+	6	1225	c.717C>T	c.(715-717)taC>taT	p.Y239Y	ASS1_uc004bzm.3_Silent_p.Y163Y|ASS1_uc004bzn.3_Silent_p.Y163Y	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	163					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	p.K239N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGATGGAGTACGCAAAGGTAT	0.612												
AKAP17A	8227	broad.mit.edu	37	X	1712915	1712915	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chrX:1712915T>C	uc004cqa.3	+	1	756	c.560T>C	c.(559-561)gTg>gCg	p.V187A	AKAP17A_uc010ncx.1_Missense_Mutation_p.V187A|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	187	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ATCCGGAATGTGGACATCCCC	0.607												
ZIC3	7547	broad.mit.edu	37	X	136649606	136649606	+	Silent	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chrX:136649606G>A	uc004fak.3	+	0	1261	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_003413	NP_003404	O60481	ZIC3_HUMAN	Homo sapiens Zic family member 3 (ZIC3), mRNA.	252					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGGAGCTGTCGTGCAAGTGGA	0.607