Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
POTEC	388468	broad.mit.edu	37	18	14542921	14542921	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr18:14542921G>A	uc010dln.3	-	0	679	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	75								p.S75S(2)|p.S75R(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567000													113	234					0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47375973	47375973	+	Silent	SNP	C	C	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr17:47375973C>A	uc002iov.4	-	5	2087	c.1623G>T	c.(1621-1623)cgG>cgT	p.R541R	ZNF652_uc002iow.3_Silent_p.R541R|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	541	Mediates interaction with CBFA2T3.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			gggggatgggccgagggGGAA	0.597000													22	30					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597000	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			61	100					0	0	1	0	0
HRCT1	646962	broad.mit.edu	37	9	35906344	35906344	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:35906344G>A	uc003zyr.1	+	0	156	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	20						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						CTGCTGTGGCGGTCctgctgc	0.657000													3	16					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049457	9049457	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr19:9049457G>C	uc002mkp.3	-	4	32378	c.32174C>G	c.(32173-32175)cCa>cGa	p.P10725R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10727	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCATAATTGGAATAGCTGA	0.443000													159	215					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17144297	17144297	+	Silent	SNP	A	A	G			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:17144297A>G	uc001mmq.4	-	12	2528	c.2463T>C	c.(2461-2463)ccT>ccC	p.P821P	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Silent_p.P441P|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	821					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAACTGTTCCAGGAACAGAAT	0.313000													7	75					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81594935	81594936	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:81594935_81594936GC>TT	uc003uhr.1	-	31	2804_2805	c.2548_2549GC>AA	c.(2548-2550)gca>AAa	p.A850K	CACNA2D1_uc011kgy.1_Missense_Mutation_p.A62K	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	862						voltage-gated calcium channel complex	metal ion binding	p.M849I(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATCATGATTTGCCATCAGAAGA	0.366000													46	80					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30066788	30066788	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr14:30066788G>C	uc001wqh.3	-	15	2524	c.2343C>G	c.(2341-2343)ttC>ttG	p.F781L	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	781	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATTAAATGGGAATGTGCCGC	0.438000													75	79					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1275535	1275535	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:1275535A>T	uc001lta.3	+	33	15490	c.15431A>T	c.(15430-15432)gAt>gTt	p.D5144V		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5144	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAGTCCATGGATATCGTCCTC	0.642000													23	32					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27294958	27294958	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr8:27294958G>A	uc003xfn.2	+	21	2280	c.1472G>A	c.(1471-1473)gGc>gAc	p.G491D	PTK2B_uc022ate.1_Missense_Mutation_p.G491D|PTK2B_uc003xfp.2_Missense_Mutation_p.G491D|PTK2B_uc003xfq.2_Missense_Mutation_p.G491D|PTK2B_uc003xfr.1_Missense_Mutation_p.G237D	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	491	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AAGCTGATCGGCATCATTGAA	0.567000													49	66					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141420816	141420816	+	Silent	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:141420816A>T	uc003vwn.2	+	4	1246	c.840A>T	c.(838-840)gcA>gcT	p.A280A	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	280	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCTCATGGGCAGAAGATGACC	0.413000													93	86					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128588864	128588864	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:128588864A>T	uc003vog.3	+	8	1658	c.1537A>T	c.(1537-1539)Atg>Ttg	p.M513L	IRF5_uc003voh.3_Missense_Mutation_p.M497L|IRF5_uc010llt.3_Missense_Mutation_p.M411L|IRF5_uc003voi.3_Missense_Mutation_p.M497L|IRF5_uc003voj.4_Missense_Mutation_p.M497L	NM_001098629	NP_001092099	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 5, mRNA.	497					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCCAGCTGGCATGCAATAACA	0.657000													44	46					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19420477	19420477	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:19420477C>A	uc001bbi.3	-	94	13907	c.13903G>T	c.(13903-13905)Gtg>Ttg	p.V4635L	UBR4_uc010ocv.2_Missense_Mutation_p.V158L|UBR4_uc009vph.3_Missense_Mutation_p.V269L|UBR4_uc010ocw.2_Missense_Mutation_p.V299L|UBR4_uc001bbg.3_Missense_Mutation_p.V346L|UBR4_uc001bbh.3_Missense_Mutation_p.V344L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4635					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AATCGCTCCACCAAGATCTGC	0.463000													17	26					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963336	73963336	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chrX:73963336A>C	uc004eby.3	-	2	1673	c.1056T>G	c.(1054-1056)agT>agG	p.S352R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	352					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCAGGGCCCCACTCTTAGACT	0.468000													4	71					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247586597	247586597	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:247586597T>C	uc001icr.3	+	3	487	c.349T>C	c.(349-351)Tgg>Cgg	p.W117R	NLRP3_uc001ics.3_Missense_Mutation_p.W117R|NLRP3_uc001icu.3_Missense_Mutation_p.W117R|NLRP3_uc001icw.3_Missense_Mutation_p.W117R|NLRP3_uc001icv.3_Missense_Mutation_p.W117R|NLRP3_uc010pyw.2_Missense_Mutation_p.W115R|NLRP3_uc001ict.1_Missense_Mutation_p.W115R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	117					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.W117L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGAAGAGGAGTGGATGGGTTT	0.423000													94	108					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20799741	20799741	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr12:20799741A>T	uc001reh.2	+	11	2462	c.2422A>T	c.(2422-2424)Aat>Tat	p.N808Y	PDE3A_uc021qwa.1_Missense_Mutation_p.N486Y	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	808	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AAAAACGTATAATGTGACAGA	0.398000													98	109					0	0	1	0	0
SNRNP27	11017	broad.mit.edu	37	2	70121125	70121125	+	Silent	SNP	C	C	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr2:70121125C>T	uc002sfw.3	+	0	51	c.9C>T	c.(7-9)cgC>cgT	p.R3R	SNRNP27_uc002sfv.3_Non-coding_Transcript	NM_006857	NP_006848	Q8WVK2	SNR27_HUMAN	Homo sapiens small nuclear ribonucleoprotein 27kDa (U4/U6.U5) (SNRNP27), transcript variant 1, mRNA.	3	Arg-rich.				RNA splicing|mRNA processing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGGGTCGCAGTCGCAGCC	0.542000													35	35					0	0	1	0	0
NANS	54187	broad.mit.edu	37	9	100845135	100845135	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:100845135A>C	uc004ayc.3	+	5	1010	c.878A>C	c.(877-879)aAg>aCg	p.K293T	TRIM14_uc004ayd.2_Intron	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	293					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CAGCTGGGCAAGTCTGTGGTG	0.488000													32	37					0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56397583	56397583	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr12:56397583delG	uc001six.3	+	5	736	c.410delG	c.(409-411)tggfs	p.W137fs	SUOX_uc001siy.3_Frame_Shift_Del_p.W137fs|SUOX_uc001siz.3_Frame_Shift_Del_p.W137fs|SUOX_uc001sja.3_Frame_Shift_Del_p.W137fs	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	137	Cytochrome b5 heme-binding.					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAGCCCTTCTGGGCCCTCTAT	0.557													97	126	---	---	---	---