Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ADCK4	79934	broad.mit.edu	37	19	41220537	41220537	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:41220537T>C	uc002oor.2	-	1	303	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ADCK4_uc002ooq.2_Missense_Mutation_p.M1V|ADCK4_uc002oos.2_Missense_Mutation_p.M1V|ITPKC_uc002oot.3_5'Flank	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	1						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TTCAGCCACATTGCCTGGAGG	0.647000														26			19		0	0	0.007413	0	0
TTC35	9694	broad.mit.edu	37	8	109462083	109462083	+	Silent	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:109462083A>G	uc003ymw.1	+	1	107	c.72A>G	c.(70-72)gaA>gaG	p.E24E		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	24						endoplasmic reticulum|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			AATGGAGAGAAGAAAACTCAA	0.318000														34			31		0	0	0.010818	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38810172	38810172	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:38810172C>A	uc003xmi.4	+	7	886	c.652C>A	c.(652-654)Cgc>Agc	p.R218S	PLEKHA2_uc011lce.2_Missense_Mutation_p.R168S	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	218	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CTGGAAACGTCGCTTCTTTGC	0.468000														22			6		0.00307968	0.00327419	0.003080	1	0
IFFO1	25900	broad.mit.edu	37	12	6649694	6649694	+	Silent	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr12:6649694A>G	uc010sfe.2	-	9	1725	c.1671T>C	c.(1669-1671)gcT>gcC	p.A557A	IFFO1_uc001qoy.3_Non-coding_Transcript|IFFO1_uc001qoz.2_Silent_p.A186A|IFFO1_uc001qpa.2_Silent_p.A185A|IFFO1_uc001qpb.1_Silent_p.A222A|IFFO1_uc001qpc.2_Silent_p.A549A|IFFO1_uc001qpf.2_Silent_p.A548A|IFFO1_uc001qpe.2_Non-coding_Transcript|IFFO1_uc001qpg.3_Missense_Mutation_p.L185P	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	545						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CGGAGTCCTCAGCCTCGCTTG	0.617000														6			63		0	0	0.014410	0	0
ATP5L	10632	broad.mit.edu	37	11	118272388	118272388	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:118272388A>G	uc001psx.3	+	0	285	c.8A>G	c.(7-9)cAa>cGa	p.Q3R	ATP5L_uc021qrg.1_Non-coding_Transcript	NM_006476	NP_006467	O75964	ATP5L_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G (ATP5L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	3					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		ACCATGGCCCAATTTGTCCGT	0.667000														21			16		0	0	0.006122	0	0
NID2	22795	broad.mit.edu	37	14	52494036	52494036	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:52494036C>T	uc001wzo.3	-	11	2791	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	NID2_uc010tqs.2_Intron|NID2_uc010tqt.1_Missense_Mutation_p.E853K|NID2_uc001wzp.3_Missense_Mutation_p.E853K	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	853	EGF-like 4.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGCCATCCTCACAGGGGTTG	0.572000														16			12		0	0	0.020292	0	0
ANKRD44	91526	broad.mit.edu	37	2	198001337	198001337	+	Silent	SNP	C	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:198001337C>A	uc021vuj.1	-	3	433	c.240G>T	c.(238-240)cgG>cgT	p.R80R	ANKRD44_uc021vuk.1_Silent_p.R55R|ANKRD44_uc002uub.3_Silent_p.R80R|ANKRD44_uc010zgw.2_Silent_p.R8R|ANKRD44_uc002uuc.3_Silent_p.R80R|ANKRD44_uc002uud.2_Silent_p.R80R	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	80							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGCAACAGCCCGGTGCAGTG	0.443000														27			26		2.48779e-11	2.88813e-11	0.005443	1	0
RBBP9	10741	broad.mit.edu	37	20	18471080	18471080	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr20:18471080G>A	uc002wqy.3	-	3	369	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_006606	NP_006597	O75884	RBBP9_HUMAN	Homo sapiens retinoblastoma binding protein 9 (RBBP9), mRNA.	98						cytoplasm|nucleus	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						TGATGTGTACGCAGACACTAA	0.408000														55			31		0	0	0.021022	0	0
POM121	9883	broad.mit.edu	37	7	72416770	72416770	+	Silent	SNP	G	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr7:72416770G>A	uc003twj.3	+	14	3929	c.2952G>A	c.(2950-2952)aaG>aaA	p.K984K	POM121_uc010lam.1_Intron	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1249	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCCGCAAAAAGTAGCCTTTGT	0.592000														47			21		0	0	0.018920	0	0
TCERG1	10915	broad.mit.edu	37	5	145838583	145838583	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr5:145838583A>G	uc003lob.3	+	3	615	c.575A>G	c.(574-576)cAg>cGg	p.Q192R	TCERG1_uc003loc.3_Missense_Mutation_p.Q192R|TCERG1_uc011dbt.2_Missense_Mutation_p.Q192R	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	192	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			gcgcaggctcaggcccaggcg	0.657000														51			3		0	0	0.004672	0	0
UBR1	197131	broad.mit.edu	37	15	43299483	43299483	+	Splice_Site	SNP	C	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr15:43299483C>A	uc001zqq.3	-	30	3276	c.3210_splice	c.e30-1	p.S1070_splice		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1070					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGCTGGGGTGCTACCAAAAGA	0.403000														10			7		0.00307968	0.00327419	0.003080	1	0
ABCC11	85320	broad.mit.edu	37	16	48249161	48249161	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:48249161A>G	uc002eff.1	-	6	1396	c.1046T>C	c.(1045-1047)aTt>aCt	p.I349T	ABCC11_uc002efg.1_Missense_Mutation_p.I349T|ABCC11_uc002efh.1_Missense_Mutation_p.I349T|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	349	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AATCAGCTTAATGCAAGTGAG	0.453000														85			39		0	0	0.023175	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176767825	176767825	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:176767825T>C	uc003fiw.4	-	6	922	c.662A>G	c.(661-663)gAt>gGt	p.D221G	TBL1XR1_uc003fix.4_Missense_Mutation_p.D221G|TBL1XR1_uc011bpz.2_5'UTR	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	221					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GCTTGGAACATCTTGCCCTCC	0.413000														19			23		0	0	0.014323	0	0
ATXN1	6310	broad.mit.edu	37	6	16327903	16327903	+	Missense_Mutation	SNP	C	A	A	rs3817753		TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr6:16327903C>A	uc003nbt.3	-	7	1610	c.639G>T	c.(637-639)caG>caT	p.Q213H	ATXN1_uc010jpi.3_Missense_Mutation_p.Q213H|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	213	Poly-Gln.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgatgct	0.667000														21			3		6.4e-05	7.02609e-05	0.004672	1	0
GLE1	2733	broad.mit.edu	37	9	131302601	131302601	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr9:131302601T>C	uc004bvj.3	+	14	2126	c.2012T>C	c.(2011-2013)cTc>cCc	p.L671P	GLE1_uc010myd.3_Missense_Mutation_p.L417P	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA.	671	Interaction with NUPL2.				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TTCATACGCCTCAAGCAGTTC	0.468000														52			3		0	0	0.004672	0	0
PCK2	5106	broad.mit.edu	37	14	24568928	24568928	+	Splice_Site	SNP	A	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:24568928A>C	uc001wlt.3	+	6	1147	c.1015_splice	c.e6+1	p.G339_splice	NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Splice_Site_p.G339_splice|PCK2_uc010tnw.2_Splice_Site_p.G205_splice|PCK2_uc010ald.2_Missense_Mutation_p.E190D|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.2_Splice_Site_p.G205_splice|PCK2_uc001wlu.4_Splice_Site_p.G205_splice	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	339					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTGACAGTGAAGGTGAGGGAC	0.517000														74			27		0	0	0.005443	0	0
NBN	4683	broad.mit.edu	37	8	90960111	90960111	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:90960111C>T	uc003yej.1	-	11	1965	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	NBN_uc011lgb.1_Missense_Mutation_p.E619K|NBN_uc003yei.1_Missense_Mutation_p.E537K	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	619					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCCCAATTTCATTTTCTTGC	0.299000								Homologous recombination						4			4		0	0	0.009096	0	0
ESPL1	9700	broad.mit.edu	37	12	53685605	53685605	+	Silent	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr12:53685605A>G	uc001sck.2	+	25	5743	c.5652A>G	c.(5650-5652)acA>acG	p.T1884T	ESPL1_uc001scj.2_Silent_p.T1559T	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1884					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGGGCCTGACAGTACCAAGCA	0.587000														12			107		0	0	0.014410	0	0
IDH2	3418	broad.mit.edu	37	15	90634783	90634783	+	Splice_Site	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr15:90634783A>G	uc002box.3	-	2	293	c.207_splice	c.e2+1	p.K69_splice	IDH2_uc010uqb.2_Splice_Site_p.K17_splice|IDH2_uc010uqc.2_Intron	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	69					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			AGGGGGCACTACCTTCTCCTT	0.577000			M		GBM									72			8		0	0	0.008291	0	0
WHSC2	7469	broad.mit.edu	37	4	1985129	1985129	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:1985129C>T	uc003gem.3	-	10	1780	c.1537G>A	c.(1537-1539)Gtg>Atg	p.V513M	WHSC2_uc003gek.3_Missense_Mutation_p.V239M|WHSC2_uc003gel.3_Missense_Mutation_p.V427M|WHSC2_uc003gen.3_Missense_Mutation_p.V367M	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	502					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			ACTGTGTCCACCAGCATGGTT	0.592000														84			70		0	0	0.014410	0	0
BTG2	7832	broad.mit.edu	37	1	203274779	203274779	+	Silent	SNP	C	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:203274779C>T	uc001gzq.3	+	0	116	c.45C>T	c.(43-45)gcC>gcT	p.A15A	LOC730227_uc009xao.2_5'Flank|LOC730227_uc001gzp.2_5'Flank	NM_006763	NP_006754	P78543	BTG2_HUMAN	Homo sapiens BTG family, member 2 (BTG2), mRNA.	15					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			AGATCGCCGCCGCCGTGGGCT	0.682000														8			3		0	0	0.004672	0	0
CTH	1491	broad.mit.edu	37	1	70877247	70877247	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:70877247G>C	uc001dfd.3	+	0	347	c.149G>C	c.(148-150)gGg>gCg	p.G50A	CTH_uc009wbl.2_Non-coding_Transcript|CTH_uc010oqq.2_Missense_Mutation_p.G50A|CTH_uc001dfe.3_Missense_Mutation_p.G50A	NM_001902	NP_001893	P32929	CGL_HUMAN	Homo sapiens cystathionase (cystathionine gamma-lyase) (CTH), transcript variant 1, mRNA.	50					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	L-cysteine desulfhydrase activity|cystathionine gamma-lyase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTCAAGCAAGGGGCGCCTGGC	0.572000														46			24		0	0	0.004656	0	0
MORC1	27136	broad.mit.edu	37	3	108703606	108703606	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:108703606C>T	uc003dxl.3	-	22	2368	c.2281G>A	c.(2281-2283)Gtt>Att	p.V761I	MORC1_uc011bhn.2_Missense_Mutation_p.V740I	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	761					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTGCTAGAACATCATTGCAC	0.363000														19			10		0	0	0.010729	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725402	26725402	+	Silent	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:26725402A>G	uc001mra.2	-	4	931	c.618T>C	c.(616-618)caT>caC	p.H206H	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Silent_p.H206H	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	206					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCCCCCAGCATGAGTTGATC	0.388000														113			78		0	0	0.014410	0	0
PPM1A	5494	broad.mit.edu	37	14	60750192	60750192	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:60750192A>T	uc001xew.4	+	1	1086	c.990A>T	c.(988-990)agA>agT	p.R330S	PPM1A_uc010apn.3_Missense_Mutation_p.R257S|PPM1A_uc001xex.4_Missense_Mutation_p.R257S|PPM1A_uc001xey.4_Missense_Mutation_p.R257S	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	257					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	p.D329N(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TAAGATCCAGACTTGAAGTCA	0.348000														111			78		0	0	0.014410	0	0
AQP7	364	broad.mit.edu	37	9	33385805	33385805	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr9:33385805G>T	uc003zst.3	-	6	757	c.585C>A	c.(583-585)aaC>aaA	p.N195K	AQP7_uc003zsu.1_Missense_Mutation_p.N138K|AQP7_uc010mjs.2_Missense_Mutation_p.N103K|AQP7_uc010mjt.2_Missense_Mutation_p.N103K|AQP7_uc011lny.1_Missense_Mutation_p.N194K|AQP7_uc003zss.3_Missense_Mutation_p.N103K|AQP7_uc011lnz.1_Missense_Mutation_p.N103K|AQP7_uc011loa.1_Missense_Mutation_p.P64T|AQP7_uc011lnx.1_Missense_Mutation_p.N195K	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	195					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GCAGTGCTGGGTTGTTCTCCT	0.617000														53			36		3.62531e-18	4.30772e-18	0.019004	1	0
RG9MTD2	93587	broad.mit.edu	37	4	100470297	100470297	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:100470297T>C	uc003huy.3	-	7	1281	c.968A>G	c.(967-969)aAg>aGg	p.K323R	RG9MTD2_uc003huz.4_Missense_Mutation_p.K323R|RG9MTD2_uc003hva.4_Missense_Mutation_p.K323R	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	323							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		CTTATCCTGCTTTTCTTCATG	0.408000														68			74		0	0	0.014410	0	0
PDIA4	9601	broad.mit.edu	37	7	148702375	148702375	+	Silent	SNP	C	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr7:148702375C>T	uc003wff.2	-	8	1662	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	460					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCTTCACCTCCCCAGCATAGT	0.572000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		246			8		0	0	0.004482	0	0
SIGIRR	59307	broad.mit.edu	37	11	406878	406878	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:406878G>T	uc001lpg.3	-	6	997	c.844C>A	c.(844-846)Ctg>Atg	p.L282M	SIGIRR_uc001lpd.2_Missense_Mutation_p.L282M|SIGIRR_uc001lpf.2_Missense_Mutation_p.L282M|SIGIRR_uc001lpe.1_Missense_Mutation_p.L282M			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	282	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGTCACCAGGTGGCGGTGC	0.736000														5			5		1.23904e-05	1.3752e-05	0.014758	1	0
SCGN	10590	broad.mit.edu	37	6	25701512	25701512	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr6:25701512A>T	uc003nfb.3	+	10	983	c.780A>T	c.(778-780)aaA>aaT	p.K260N	SCGN_uc010jpz.3_Missense_Mutation_p.K151N	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	260	EF-hand 6.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGGATGGAAAAATTCAGAAGT	0.483000														87			8		0	0	0.003080	0	0
ALG5	29880	broad.mit.edu	37	13	37539814	37539814	+	Nonsense_Mutation	SNP	C	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr13:37539814C>T	uc001uvy.3	-	7	738	c.671G>A	c.(670-672)tGg>tAg	p.W224*	ALG5_uc010teq.2_Nonsense_Mutation_p.W194*|ALG5_uc010ter.2_Non-coding_Transcript	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	224					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		ACAAAGGAACCACACCAGAAA	0.408000														69			4		0	0	0.009096	0	0
SLC27A3	11000	broad.mit.edu	37	1	153752431	153752431	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:153752431A>T	uc001fcz.3	+	9	2211	c.2146A>T	c.(2146-2148)Aca>Tca	p.T716S	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	716					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGCCCCTCACAACTGCCCG	0.597000														20			16		0	0	0.004007	0	0
ENTPD6	955	broad.mit.edu	37	20	25201971	25201971	+	Splice_Site	SNP	T	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr20:25201971T>A	uc002wuj.2	+	11	1225	c.1045_splice	c.e11+2	p.A349_splice	ENTPD6_uc010zsy.1_Silent_p.G349G|ENTPD6_uc010gdj.1_Silent_p.G321G|ENTPD6_uc002wum.2_Splice_Site_p.A332_splice|ENTPD6_uc010zta.1_Splice_Site_p.A349_splice|ENTPD6_uc002wuk.2_Splice_Site_p.A348_splice|ENTPD6_uc002wul.2_Splice_Site_p.A348_splice|ENTPD6_uc010ztb.1_Splice_Site_p.A321_splice|ENTPD6_uc010ztc.1_Splice_Site_p.A321_splice|ENTPD6_uc002wuo.2_Splice_Site_p.A101_splice|ENTPD6_uc010zsz.1_Splice_Site_p.A131_splice|ENTPD6_uc010ztd.1_Intron|ENTPD6_uc010gdl.1_5'Flank|ENTPD6_uc010gdk.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	349						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGAAAGCAGGTACGGGGAGGG	0.582000														18			19		0	0	0.007413	0	0
SGK2	10110	broad.mit.edu	37	20	42208647	42208647	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr20:42208647A>G	uc002xkv.3	+	10	1284	c.1065A>G	c.(1063-1065)atA>atG	p.I355M	SGK2_uc002xkr.3_Missense_Mutation_p.I295M|SGK2_uc010ggm.3_Missense_Mutation_p.I295M|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.I295M	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	355	AGC-kinase C-terminal.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAGCCCCATAAACTGGGATG	0.502000														43			43		0	0	0.014410	0	0
RIF1	55183	broad.mit.edu	37	2	152319615	152319615	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:152319615C>A	uc002txm.3	+	29	3742	c.3581C>A	c.(3580-3582)tCt>tAt	p.S1194Y	RIF1_uc002txn.3_Missense_Mutation_p.S1194Y|RIF1_uc002txl.3_Missense_Mutation_p.S1194Y|RIF1_uc002txo.3_Missense_Mutation_p.S1194Y|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1194					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACAGAAAATTCTTTCGTTGTC	0.368000														75			21		1.28384e-07	1.45694e-07	0.012319	1	0
HDAC5	10014	broad.mit.edu	37	17	42158172	42158172	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:42158172C>A	uc002iff.1	-	20	3021	c.2689G>T	c.(2689-2691)Gac>Tac	p.D897Y	HDAC5_uc002ifd.1_Missense_Mutation_p.D896Y|HDAC5_uc002ife.1_Missense_Mutation_p.D896Y|HDAC5_uc010czp.1_Missense_Mutation_p.D811Y	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	896	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TTCCCGTTGTCATAGCGATGC	0.562000														69			33		1.60099e-16	1.88023e-16	0.021022	1	0
GALE	2582	broad.mit.edu	37	1	24124297	24124297	+	Missense_Mutation	SNP	G	T	T	rs141583863		TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:24124297G>T	uc009vqo.1	-	4	626	c.416C>A	c.(415-417)cCc>cAc	p.P139H	GALE_uc001bhv.1_Missense_Mutation_p.P139H|GALE_uc001bhx.1_Missense_Mutation_p.P139H|GALE_uc001bhz.1_Missense_Mutation_p.P65H	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	139					galactose catabolic process	cytosol	UDP-glucose 4-epimerase activity|coenzyme binding|protein homodimerization activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CAGGTACTGGGGGTTCCCGTA	0.587000														25			25		3.73808e-20	4.4946e-20	0.005443	1	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														8			2		0	0	0.004672	0	0
NDUFS3	4722	broad.mit.edu	37	11	47605943	47605943	+	Silent	SNP	G	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:47605943G>A	uc001nga.2	+	6	787	c.705G>A	c.(703-705)ctG>ctA	p.L235L	NDUFS3_uc001nft.3_Silent_p.L214L|FAM180B_uc001ngb.2_5'Flank	NM_004551	NP_004542	O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.	235					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	AATTTGACCTGAACAGCCCCT	0.557000														99			75		0	0	0.014410	0	0
IGFLR1	79713	broad.mit.edu	37	19	36232080	36232080	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:36232080A>G	uc002obd.4	-	1	269	c.2T>C	c.(1-3)aTg>aCg	p.M1T	IGFLR1_uc002obb.3_Missense_Mutation_p.M1T|IGFLR1_uc002obc.3_Missense_Mutation_p.M1T|IGFLR1_uc010xsy.2_Non-coding_Transcript|IGFLR1_uc010eej.3_Missense_Mutation_p.M81T	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	Homo sapiens IGF-like family receptor 1 (IGFLR1), mRNA.	1						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TCCAGGCCCCATCTGGGGGGC	0.632000														8			4		0	0	0.021553	0	0
SLC12A7	10723	broad.mit.edu	37	5	1064225	1064225	+	Silent	SNP	C	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr5:1064225C>G	uc003jbu.3	-	18	2646	c.2580G>C	c.(2578-2580)ctG>ctC	p.L860L	MIR4635_uc021xvy.1_5'Flank	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	860					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGAAGGGCAGCAGCATGAGCA	0.697000														20			17		0	0	0.006122	0	0
APC2	10297	broad.mit.edu	37	19	1468067	1468067	+	Silent	SNP	C	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:1468067C>T	uc002lsr.1	+	14	4975	c.4767C>T	c.(4765-4767)ccC>ccT	p.P1589P	APC2_uc002lss.1_Silent_p.P1171P|APC2_uc002lst.1_Silent_p.P1589P|APC2_uc002lsu.1_Silent_p.P1588P|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1589	Pro-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGCGAGCCCGAGCCCTCGG	0.766000														10			7		0	0	0.004482	0	0
NUDC	10726	broad.mit.edu	37	1	27250638	27250638	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:27250638A>G	uc001bng.1	+	1	256	c.140A>G	c.(139-141)gAa>gGa	p.E47G	BC016143_uc021ojq.1_Intron	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA.	47					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		ATTGGAGGAGAAGAAGGGATG	0.458000														36			26		0	0	0.006320	0	0
ACLY	47	broad.mit.edu	37	17	40048661	40048661	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:40048661C>A	uc002hyg.3	-	15	1804	c.1641G>T	c.(1639-1641)gaG>gaT	p.E547D	ACLY_uc002hyh.3_Missense_Mutation_p.E537D|ACLY_uc002hyi.3_Missense_Mutation_p.E601D|ACLY_uc010wfx.2_Missense_Mutation_p.E591D|ACLY_uc010wfy.2_Missense_Mutation_p.E276D	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	547					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GGATCAGGATCTCTTTGTGCC	0.493000														91			54		2.53126e-37	3.08021e-37	0.014410	1	0
SETDB1	9869	broad.mit.edu	37	1	150936790	150936790	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:150936790G>A	uc001evu.2	+	21	4016	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K	SETDB1_uc001evv.2_Missense_Mutation_p.E1275K	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	1276	Post-SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGGCAAGGAGCTACTCTG	0.507000														37			14		0	0	0.003163	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926750	22926750	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:22926750G>A	uc002dli.3	+	1	1043	c.971G>A	c.(970-972)cGa>cAa	p.R324Q		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	324						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CTCCTGCCTCGATGCTTGGGC	0.403000														269			15		0	0	0.003163	0	0
FAM182B	728882	broad.mit.edu	37	20	25848629	25848629	+	RNA	SNP	C	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr20:25848629C>T	uc002wvd.1	-	0		c.158G>A								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						gctgggatgccgtgctgcttc	0.667000														8			3		0	0	0.004672	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94337674	94337674	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:94337674C>A	uc001dqf.3	-	4	2079	c.2021G>T	c.(2020-2022)aGa>aTa	p.R674I	DNTTIP2_uc010otm.2_Non-coding_Transcript	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTTGTAAAATCTTTTCGGGTC	0.408000														144			112		3.44819e-71	4.24716e-71	0.014410	1	0
PRSS8	5652	broad.mit.edu	37	16	31144179	31144179	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:31144179A>G	uc002ebc.4	-	3	694	c.362T>C	c.(361-363)aTc>aCc	p.I121T	PRSS8_uc010vfe.2_Missense_Mutation_p.I67T	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	Homo sapiens protease, serine, 8 (PRSS8), mRNA.	121	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GGGGTGGGGGATGATGTCCTT	0.622000														216			85		0	0	0.014410	0	0
MAP3K13	9175	broad.mit.edu	37	3	185191375	185191375	+	Silent	SNP	G	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:185191375G>A	uc010hyf.3	+	11	2547	c.2256G>A	c.(2254-2256)ggG>ggA	p.G752G	MAP3K13_uc011brt.2_Silent_p.G545G|MAP3K13_uc011bru.2_Silent_p.G608G|MAP3K13_uc003fpi.3_Silent_p.G752G|MAP3K13_uc010hyg.3_Silent_p.G442G	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	752					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCCAGTGGGGAGGAGCCCTG	0.542000														146			8		0	0	0.006214	0	0
LIMK2	3985	broad.mit.edu	37	22	31655910	31655910	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr22:31655910T>C	uc003akh.3	+	4	543	c.398T>C	c.(397-399)aTg>aCg	p.M133T	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Missense_Mutation_p.M112T|LIMK2_uc003akk.3_Missense_Mutation_p.M112T|LIMK2_uc011aln.2_Missense_Mutation_p.M50T	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	133						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CTGGCACCCATGTTTGAGAGA	0.602000														6			27		0	0	0.008361	0	0
NACC1	112939	broad.mit.edu	37	19	13249116	13249116	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:13249116A>G	uc002mwm.3	+	5	1648	c.1480A>G	c.(1480-1482)Agt>Ggt	p.S494G		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	494					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CACCTTCATCAGTGAAACGGG	0.642000														87			56		0	0	0.014410	0	0
TCP11L1	55346	broad.mit.edu	37	11	33083137	33083137	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:33083137G>C	uc001mud.3	+	6	1237	c.837G>C	c.(835-837)aaG>aaC	p.K279N	TCP11L1_uc009yju.3_Missense_Mutation_p.K94N|TCP11L1_uc010rei.2_Missense_Mutation_p.K279N|TCP11L1_uc001mue.3_Missense_Mutation_p.K279N|TCP11L1_uc001muf.1_Non-coding_Transcript	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.	279										kidney(1)|liver(2)|lung(2)|skin(1)	6						TGACTCAGAAGTATAAACACG	0.527000														27			21		0	0	0.010504	0	0
PARP6	56965	broad.mit.edu	37	15	72556908	72556908	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr15:72556908A>G	uc002auc.3	-	6	842	c.383T>C	c.(382-384)cTt>cCt	p.L128P	PARP6_uc002aua.3_5'UTR|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.L128P	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	128							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TTTCAACTGAAGACCCAGCCC	0.428000														90			4		0	0	0.014758	0	0
DDI2	84301	broad.mit.edu	37	1	15957021	15957021	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:15957021C>T	uc001awx.2	+	2	683	c.470C>T	c.(469-471)cCa>cTa	p.P157L	DDI2_uc001aww.3_Missense_Mutation_p.P157L|RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	157					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAACGCAATCCACCCCTGGCA	0.502000														50			30		0	0	0.009535	0	0
RAB40C	57799	broad.mit.edu	37	16	677608	677608	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr16:677608T>C	uc021szt.1	+	6	1054	c.832T>C	c.(832-834)Tgc>Cgc	p.C278R	RAB40C_uc021szu.1_Missense_Mutation_p.C278R|RAB40C_uc021szv.1_Missense_Mutation_p.C278R|RAB40C_uc002chq.3_Missense_Mutation_p.C259R|RAB40C_uc002chr.3_Missense_Mutation_p.C278R|AK128777_uc002chs.1_5'Flank	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	278					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GCGGAGTAACTGCAAGATCTC	0.697000														38			49		0	0	0.014410	0	0
TMEM45B	120224	broad.mit.edu	37	11	129724698	129724698	+	Silent	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:129724698A>G	uc001qfe.1	+	2	433	c.372A>G	c.(370-372)gcA>gcG	p.A124A	TMEM45B_uc001qff.1_Silent_p.A124A	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	Homo sapiens transmembrane protein 45B (TMEM45B), mRNA.	124						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		TGGCTGTGGCAGTATTCATGG	0.453000														54			34		0	0	0.017118	0	0
TNPO1	3842	broad.mit.edu	37	5	72192301	72192301	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr5:72192301A>G	uc003kck.4	+	18	2307	c.2160A>G	c.(2158-2160)atA>atG	p.I720M	TNPO1_uc011csj.1_Missense_Mutation_p.I670M|TNPO1_uc003kci.4_Missense_Mutation_p.I712M|TNPO1_uc003kcg.4_Missense_Mutation_p.I712M	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	720					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TCATGCCAATATTGGGAACCA	0.338000														34			19		0	0	0.008871	0	0
PLOD2	5352	broad.mit.edu	37	3	145803003	145803003	+	Silent	SNP	A	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:145803003A>T	uc003evr.1	-	10	1691	c.1185T>A	c.(1183-1185)gtT>gtA	p.V395V	PLOD2_uc003evq.1_Silent_p.V55V|PLOD2_uc011bnm.1_Silent_p.V340V|PLOD2_uc003evs.1_Silent_p.V395V	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	395					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTGTCAAAACAACATCTGCAT	0.284000														24			17		0	0	0.008871	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912700	111912700	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr6:111912700G>T	uc011ebc.2	-	2	1205	c.590C>A	c.(589-591)aCg>aAg	p.T197K	TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc003pvg.3_Missense_Mutation_p.T197K|TRAF3IP2_uc003pvf.3_Missense_Mutation_p.T197K|TRAF3IP2_uc010kdw.3_Missense_Mutation_p.T197K|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.T197K	NM_147686	NP_679211	O43734	CIKS_HUMAN	Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.	206					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		ATCATATCCCGTGTCTATGGT	0.627000														82			10		0.000673444	0.000731375	0.008291	1	0
AHSG	197	broad.mit.edu	37	3	186335047	186335047	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr3:186335047G>A	uc003fqk.4	+	3	562	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	AHSG_uc003fqj.3_Missense_Mutation_p.V161M	NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	161	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CACCAGGGTGGTGCACGCCGC	0.612000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			54		0	0	0.014410	0	0
RANBP2	5903	broad.mit.edu	37	2	109383218	109383218	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:109383218A>C	uc002tem.4	+	19	6349	c.6223A>C	c.(6223-6225)Atg>Ctg	p.M2075L		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2075	RanBD1 2.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGAATGCTGATGCGAAGAGA	0.408000														214			220		0	0	0.014410	0	0
RAB2B	84932	broad.mit.edu	37	14	21931921	21931921	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:21931921A>G	uc010tlt.2	-	5	469	c.368T>C	c.(367-369)cTa>cCa	p.L123P	RAB2B_uc010tls.2_Missense_Mutation_p.L77P|RAB2B_uc010ain.3_Missense_Mutation_p.L14P|RAB2B_uc001wax.3_Missense_Mutation_p.L58P	NM_032846	NP_001156852	Q8WUD1	RAB2B_HUMAN	Homo sapiens RAB2B, member RAS oncogene family (RAB2B), transcript variant 1, mRNA.	123					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		GCGGGACTCTAGGTCACTGCA	0.408000														45			31		0	0	0.012213	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802128	185802128	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr2:185802128G>C	uc002uph.3	+	3	2599	c.2005G>C	c.(2005-2007)Gac>Cac	p.D669H		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	669						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATCCTTAAGTGACAATGAAGA	0.323000														61			43		0	0	0.006999	0	0
TET2	54790	broad.mit.edu	37	4	106156045	106156045	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:106156045T>A	uc011cez.2	+	2	1414	c.1009T>A	c.(1009-1011)Ttt>Att	p.F337I	TET2_uc003hxk.3_Missense_Mutation_p.F316I|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.F316I|TET2_uc010ilp.2_Missense_Mutation_p.F316I|TET2_uc021xql.1_Missense_Mutation_p.F316I	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	316					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TACCTGTTCCTTTCAGAAACC	0.453000			"""Mis N, F"""		MDS									23			29		0	0	0.012213	0	0
SUGP1	57794	broad.mit.edu	37	19	19420931	19420931	+	Silent	SNP	C	T	T			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr19:19420931C>T	uc002nmh.3	-	2	301	c.285G>A	c.(283-285)aaG>aaA	p.K95K	SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_Intron|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	95					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CCTTCTGCAACTTCAGAAACT	0.512000														38			33		0	0	0.013726	0	0
AASDH	132949	broad.mit.edu	37	4	57204741	57204741	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:57204741A>G	uc003hbn.3	-	14	3277	c.3124T>C	c.(3124-3126)Tct>Cct	p.S1042P	AASDH_uc010ihb.3_Missense_Mutation_p.S557P|AASDH_uc003hbo.3_Missense_Mutation_p.S942P|AASDH_uc011caa.2_3'UTR|AASDH_uc011cab.2_Missense_Mutation_p.S557P|AASDH_uc010ihc.3_3'UTR	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	1042					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CCATCAGTAGATGCTGCTGCC	0.443000														34			27		0	0	0.005443	0	0
INPP5K	51763	broad.mit.edu	37	17	1400005	1400005	+	Silent	SNP	G	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:1400005G>C	uc002fsr.3	-	8	1445	c.1056C>G	c.(1054-1056)acC>acG	p.T352T	INPP5K_uc002fss.3_Silent_p.T276T|INPP5K_uc002fsq.3_Silent_p.T276T|INPP5K_uc010cjr.3_Silent_p.T276T|INPP5K_uc010vql.2_Silent_p.T260T|INPP5K_uc010vqm.2_Silent_p.T256T	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	352	Required for ruffle localization.				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						GGAAGTCCGAGGTTGAAGAGT	0.567000														42			53		0	0	0.014410	0	0
ARID2	196528	broad.mit.edu	37	12	46285793	46285793	+	Splice_Site	SNP	G	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr12:46285793G>A	uc001ros.1	+	18	5062	c.5062_splice	c.e18-1	p.D1688_splice	ARID2_uc001ror.3_Splice_Site_p.D1688_splice|ARID2_uc009zkg.1_Splice_Site_p.D1144_splice|ARID2_uc009zkh.1_Splice_Site_p.D1315_splice|ARID2_uc001rou.1_Splice_Site_p.D1022_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1688					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCTCAAAAAGGATAAGCACT	0.388000			"""N, S, F"""		hepatocellular carcinoma									4			52		0	0	0.014410	0	0
DDX59	83479	broad.mit.edu	37	1	200635600	200635600	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr1:200635600G>C	uc009wzk.3	-	1	512	c.269C>G	c.(268-270)cCc>cGc	p.P90R	DDX59_uc010ppl.1_Missense_Mutation_p.P90R	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	90						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGACTTAACGGGCTCTTCAGA	0.522000														41			3		0	0	0.004672	0	0
UNC93B1	81622	broad.mit.edu	37	11	67759236	67759236	+	Silent	SNP	G	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:67759236G>C	uc001omw.1	-	11	1652	c.1572C>G	c.(1570-1572)cgC>cgG	p.R524R		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	525					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TGCGGGGCTGGCGCGGGGCCA	0.721000														7			2		0	0	0.004672	0	0
LPL	4023	broad.mit.edu	37	8	19816813	19816813	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:19816813G>C	uc003wzk.4	+	6	1431	c.1061G>C	c.(1060-1062)aGt>aCt	p.S354T		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	354	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GGGACTGAGAGTGAAACCCAT	0.453000														31			21		0	0	0.014323	0	0
AFG3L2	10939	broad.mit.edu	37	18	12358734	12358734	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr18:12358734T>C	uc002kqz.2	-	7	1155	c.961A>G	c.(961-963)Atg>Gtg	p.M321V		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	321					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACAAATTCCATGATCTCTAGC	0.383000														36			25		0	0	0.018920	0	0
MUC2	4583	broad.mit.edu	37	11	1075662	1075662	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:1075662C>G	uc001lsx.1	+	1	115	c.88C>G	c.(88-90)Cga>Gga	p.R30G		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	30						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGGCAGAACCCGAAACCACGG	0.632000														22			8		0	0	0.008291	0	0
COMMD8	54951	broad.mit.edu	37	4	47462160	47462160	+	Splice_Site	DEL	C	-	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:47462160delC	uc003gxi.3	-	2	230	c.222_splice	c.e2+1	p.E74_splice		NM_017845	NP_060315	Q9NX08	COMD8_HUMAN	Homo sapiens COMM domain containing 8 (COMMD8), mRNA.	74							protein binding			large_intestine(2)|lung(5)|prostate(1)	8						AGAGAAGTTACCTCTTCATCA	0.338													---	40	---	---	33	---					
CEP135	9662	broad.mit.edu	37	4	56847415	56847423	+	In_Frame_Del	DEL	TAAGAAAGG	-	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr4:56847415_56847423delTAAGAAAGG	uc003hbi.3	+	12	1883_1891	c.1649_1657delTAAGAAAGG	c.(1648-1659)ctaagaaaggaa>caa	p.550_553LRKE>Q	CEP135_uc003hbj.3_In_Frame_Del_p.256_259LRKE>Q	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	550					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTATCTGCCCTAAGAAAGGAATCCACCCA	0.321													---	38	---	---	19	---					
ZDHHC2	51201	broad.mit.edu	37	8	17043867	17043867	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:17043867delT	uc003wxe.3	+	2	582	c.185delT	c.(184-186)cttfs	p.L62fs		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	62						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TATCATCTACTTTTTGCAATG	0.284													---	8	---	---	9	---					
RP1	6101	broad.mit.edu	37	8	55540098	55540099	+	Frame_Shift_Ins	INS	-	T	T	rs139588212	byFrequency	TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr8:55540098_55540099insT	uc003xsd.1	+	3	3804_3805	c.3656_3657insT	c.(3655-3657)agtfs	p.S1219fs	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1219					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACATTCAGAGTGTTCCTAAGT	0.446													---	65	---	---	58	---					
C10orf71	118461	broad.mit.edu	37	10	50530974	50530974	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr10:50530974delG	uc021pqb.1	+	0	384	c.384delG	c.(382-384)gtgfs	p.V128fs	C10orf71_uc021pqa.1_Frame_Shift_Del_p.V127fs|C10orf71_uc021pqc.1_Frame_Shift_Del_p.V128fs	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	128										endometrium(1)	1						GACTGGAGGTGCCAGTTTCCG	0.547													---	78	---	---	44	---					
ATL3	25923	broad.mit.edu	37	11	63403801	63403802	+	Frame_Shift_Ins	INS	-	A	A			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr11:63403801_63403802insA	uc001nxk.1	-	8	1131_1132	c.855_856insT	c.(853-858)attgctfs	p.I285fs	ATL3_uc010rms.1_Frame_Shift_Ins_p.I267fs|ATL3_uc010rmr.1_5'Flank	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	285					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AATTCACCAGCAATATCTGTTC	0.416											OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	64	---	---	44	---					
HNRNPC	3183	broad.mit.edu	37	14	21679712	21679713	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr14:21679712_21679713delAT	uc001vzy.3	-	7	933_934	c.689_690delAT	c.(688-690)aatfs	p.N230fs	HNRNPC_uc001vzw.3_Frame_Shift_Del_p.N217fs|HNRNPC_uc001wad.3_Frame_Shift_Del_p.N150fs|HNRNPC_uc001vzx.3_Intron|HNRNPC_uc001vzz.3_Frame_Shift_Del_p.N217fs|HNRNPC_uc001waa.3_Frame_Shift_Del_p.N230fs|HNRNPC_uc010ail.3_Frame_Shift_Del_p.N230fs|HNRNPC_uc010tlq.2_Non-coding_Transcript|HNRNPC_uc001wac.3_Frame_Shift_Del_p.N174fs|HNRNPC_uc010tlr.2_Frame_Shift_Del_p.N95fs|HNRNPC_uc001wae.3_Frame_Shift_Del_p.N217fs	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA.	230	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	RNA binding|identical protein binding|nucleotide binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CTGACTTATCATTCTTCATCTC	0.505													---	15	---	---	16	---					
SPPL2C	162540	broad.mit.edu	37	17	43922606	43922611	+	In_Frame_Del	DEL	GGCCAA	-	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr17:43922606_43922611delGGCCAA	uc010wka.2	+	0	351_356	c.334_339delGGCCAA	c.(334-339)ggccaadel	p.GQ112del	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	112						integral to membrane	aspartic-type endopeptidase activity										GCTGGCTCAGGGCCAAGGTGCCCACG	0.680													---	87	---	---	10	---					
PLA2G6	8398	broad.mit.edu	37	22	38536176	38536176	+	Splice_Site	DEL	G	-	-			TCGA-A4-7288-01A-11D-2136-08	TCGA-A4-7288-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5b1d55b-d7a2-4f48-bf14-67df3cf49d98	b8c7c479-4d3e-45ee-9f6c-8f3d1c372965	g.chr22:38536176delG	uc003auy.1	-	5	746	c.610_splice	c.e5-1	p.L204_splice	PLA2G6_uc003auz.1_Splice_Site_p.L204_splice|PLA2G6_uc003ava.1_Splice_Site_p.L204_splice|PLA2G6_uc003avb.2_Splice_Site_p.L204_splice|PLA2G6_uc010gxk.1_Splice_Site|PLA2G6_uc011ano.1_Intron	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	204					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTTCCAAGGAGCTGATGAAAG	0.567													---	7	---	---	30	---					
