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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
OR8K5	219453	broad.mit.edu	37	11	55926983	55926983	+	Missense_Mutation	SNP	C	A	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr11:55926983C>A	uc010rja.2	-	0	811	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T270N(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCCATTTTATCAGTATCAAAG	0.398													9.60E-03	1	9.10E-03	0	1	72	3
DLG5	9231	broad.mit.edu	37	10	79595529	79595529	+	Missense_Mutation	SNP	C	A	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr10:79595529C>A	uc001jzk.3	-	7	1659	c.1589G>T	c.(1588-1590)cGa>cTa	p.R530L	DLG5_uc001jzj.3_Missense_Mutation_p.R285L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.R134L	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	530					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AATCTTGTCTCGCTCCTGGAA	0.622													2.82E-13	1	2.38E-13	0	1	22	19
IQCE	23288	broad.mit.edu	37	7	2613074	2613074	+	Silent	SNP	C	A	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr7:2613074C>A	uc003sml.1	+	5	601	c.417C>A	c.(415-417)gtC>gtA	p.V139V	IQCE_uc010ksm.1_Silent_p.V139V|IQCE_uc011jvy.1_Silent_p.V123V|IQCE_uc011jvz.1_Silent_p.V74V|IQCE_uc003smo.4_Silent_p.V139V|IQCE_uc003smk.4_Silent_p.V123V|IQCE_uc003smn.4_Silent_p.V74V	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	139										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GGACTCCTGTCTACAGAGAAA	0.348													2.78E-04	1	2.48E-04	0	1	53	3
ANK1	286	broad.mit.edu	37	8	41530362	41530362	+	Missense_Mutation	SNP	G	A	A	rs146416859	byFrequency	TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr8:41530362G>A	uc003xok.3	-	37	4690	c.4606C>T	c.(4606-4608)Cgt>Tgt	p.R1536C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.R1536C|ANK1_uc003xoj.3_Missense_Mutation_p.R1536C|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Missense_Mutation_p.R1577C	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1536	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1536L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGTCTGCACGTAGCGGAGAG	0.607													0	1	0	0	0	19	11
TUBG1	7283	broad.mit.edu	37	17	40762598	40762599	+	Missense_Mutation	DNP	GA	CG	CG			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:40762598_40762599GA>CG	uc002ian.3	+	2	718_719	c.320_321GA>CG	c.(319-321)gga>gCG	p.G107A	FAM134C_uc002ial.2_5'Flank|FAM134C_uc010wgq.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_5'UTR	NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	107					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGGGCCAGCGGATTCTCCCAGG	0.569													0	1	0	0	0	78	8
PHF3	23469	broad.mit.edu	37	6	64394725	64394725	+	Missense_Mutation	SNP	G	A	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:64394725G>A	uc003pep.1	+	2	1127	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	PHF3_uc010kaf.1_Missense_Mutation_p.D368N|PHF3_uc003pem.2_Missense_Mutation_p.D321N|PHF3_uc010kag.1_Missense_Mutation_p.D280N|PHF3_uc010kah.1_Missense_Mutation_p.D182N|PHF3_uc003pen.2_Missense_Mutation_p.D280N|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.D368N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	368					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAGTTGTGTAGATGAAGTGAC	0.373													0	1	0	0	0	67	32
MRPL10	124995	broad.mit.edu	37	17	45904011	45904011	+	Missense_Mutation	SNP	G	A	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:45904011G>A	uc002ily.3	-	4	652	c.554C>T	c.(553-555)cCg>cTg	p.P185L	MRPL10_uc002ilz.3_Missense_Mutation_p.P175L|MRPL10_uc010wky.2_Missense_Mutation_p.P136L	NM_148887	NP_683685	Q7Z7H8	RM10_HUMAN	Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	175					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						ACCTAGCAGCGGCAGGAATGG	0.557													0	1	0	0	0	119	7
GRM4	2914	broad.mit.edu	37	6	34003992	34003992	+	Missense_Mutation	SNP	C	T	T			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:34003992C>T	uc003oir.4	-	7	2258	c.1895G>A	c.(1894-1896)gGc>gAc	p.G632D	GRM4_uc011dsn.2_Missense_Mutation_p.G585D|GRM4_uc010jvh.3_Missense_Mutation_p.G632D|GRM4_uc010jvi.3_Missense_Mutation_p.G324D|GRM4_uc003oio.3_Missense_Mutation_p.G324D|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.G492D|GRM4_uc003oiq.3_Missense_Mutation_p.G499D|GRM4_uc011dsm.2_Missense_Mutation_p.G463D	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	632					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CAGGAAGATGCCTGCCAGCAG	0.597													0	1	0	0	0	44	3
FLI1	2313	broad.mit.edu	37	11	128680730	128680730	+	Silent	SNP	T	C	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr11:128680730T>C	uc010sbu.2	+	8	1549	c.1206T>C	c.(1204-1206)ccT>ccC	p.P402P	FLI1_uc010sbt.2_Silent_p.P209P|FLI1_uc010sbv.2_Silent_p.P369P|FLI1_uc009zci.3_Silent_p.P336P	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	402					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACTTTGTCCCTCCCCATCCAT	0.567			T	EWSR1	Ewing sarcoma								0	1	0	0	0	64	3
KRAS	3845	broad.mit.edu	37	12	25380277	25380278	+	Missense_Mutation	DNP	GA	TT	TT	rs121913238		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr12:25380277_25380278GA>TT	uc001rgp.1	-	2	361_362	c.180_181TC>AA	c.(178-183)ggtcaa>ggAAaa	p.Q61K	KRAS_uc001rgq.1_Missense_Mutation_p.Q61K	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(208)|p.Q61L(71)|p.Q61K(64)|p.Q61R(56)|p.Q61E(20)|p.Q61P(12)|p.G60G(2)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TACTCCTCTTGACCTGCTGTGT	0.411	Q61K(CALU6_LUNG)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			0	1	0	0	0	47	24
FAM71F1	84691	broad.mit.edu	37	7	128359074	128359074	+	Silent	SNP	T	A	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr7:128359074T>A	uc003vno.1	+	2	677	c.624T>A	c.(622-624)ccT>ccA	p.P208P	FAM71F1_uc010llo.1_Silent_p.P109P|FAM71F1_uc011koq.1_Silent_p.P100P|FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Silent_p.P109P|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Silent_p.P208P	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	208										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCAAAGACCCTAGGATTCTTG	0.532													0	1	0	0	0	85	69
GRAMD1A	57655	broad.mit.edu	37	19	35500211	35500211	+	Missense_Mutation	SNP	G	A	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr19:35500211G>A	uc010xsf.1	+	1	212	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	GRAMD1A_uc002nxi.1_Missense_Mutation_p.R153Q|GRAMD1A_uc010xse.1_Missense_Mutation_p.R66Q|GRAMD1A_uc002nxk.2_Missense_Mutation_p.R66Q|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	66						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTAGGCAGCCGGAACTTCATC	0.637													0	1	0	0	0	69	3
SMARCAL1	50485	broad.mit.edu	37	2	217332707	217332707	+	Missense_Mutation	SNP	T	C	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr2:217332707T>C	uc002vgc.4	+	13	2512	c.2182T>C	c.(2182-2184)Ttt>Ctt	p.F728L	SMARCAL1_uc002vgd.4_Missense_Mutation_p.F728L|SMARCAL1_uc010fvg.3_Missense_Mutation_p.F706L	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	728	Helicase C-terminal.				DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AAGAGAGAAGTTTTTAGTATT	0.393									Schimke Immuno-Osseous Dysplasia				0	1	0	0	0	106	4
SERPINE3	647174	broad.mit.edu	37	13	51915403	51915403	+	Missense_Mutation	SNP	T	C	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr13:51915403T>C	uc001vfh.2	+	0	236	c.176T>C	c.(175-177)cTc>cCc	p.L59P	SERPINE3_uc010tgp.2_Missense_Mutation_p.L59P	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	59					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						GGTGTGTCCCTCCCCCTGGAG	0.557													0	1	0	0	0	51	3
EEF1A1	1915	broad.mit.edu	37	6	74228155	74228158	+	Frame_Shift_Del	DEL	GACA	-	-			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:74228155_74228158delGACA	uc003phi.3	-	4	1940_1943	c.948_951delTGTC	c.(946-951)tctgtcfs	p.S316fs	EEF1A1_uc003phj.3_Frame_Shift_Del_p.S316fs|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_Non-coding_Transcript	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	316						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GAACATCCTTGACAGACACATTCT	0.446											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay						43	35
