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
FLOT2	2319	broad.mit.edu	37	17	27207756	27207756	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:27207756G>A	uc002hdc.3	-	9	1346	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	408					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCTGTGAGGGCATGCACAGA	0.597000														138			5		0	0	0.001168	0	0
KIF1B	23095	broad.mit.edu	37	1	10386237	10386237	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:10386237C>T	uc001aqx.4	+	26	2946	c.2744C>T	c.(2743-2745)aCg>aTg	p.T915M	KIF1B_uc001aqw.4_Missense_Mutation_p.T869M|KIF1B_uc001aqy.3_Missense_Mutation_p.T889M|KIF1B_uc001aqz.3_Missense_Mutation_p.T915M|KIF1B_uc001ara.3_Missense_Mutation_p.T875M|KIF1B_uc001arb.3_Missense_Mutation_p.T901M	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	915					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.T869M(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACTTTTTCCACGGCCGATTCC	0.572000														220			21		0	0	0.008871	0	0
ATG16L2	89849	broad.mit.edu	37	11	72528829	72528829	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:72528829G>C	uc001otd.3	+	2	287	c.247G>C	c.(247-249)Gtc>Ctc	p.V83L	ATG16L2_uc001otc.1_Missense_Mutation_p.V83L|ATG16L2_uc010rrf.1_Missense_Mutation_p.V83L|ATG16L2_uc001ote.3_5'UTR|ATG16L2_uc009ytj.2_Missense_Mutation_p.V83L	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	83					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CTCAGACCAAGTCCCATCACT	0.587000														27			12		0	0	0.003163	0	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	G	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr4:146059041A>G	uc003ika.4	-	20	2829	c.2691T>C	c.(2689-2691)caT>caC	p.H897H		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000														167			4		0	0	0.009096	0	0
ZXDB	158586	broad.mit.edu	37	X	57620231	57620231	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:57620231G>A	uc004dvd.3	+	0	1963	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T		NM_007157	NP_009088	P98169	ZXDB_HUMAN	Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.	584	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						TCAGCTAGAAGCAGCAAATTC	0.463000														192			10		0	0	0.002450	0	0
ZFHX3	463	broad.mit.edu	37	16	72993684	72993684	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72993684C>A	uc002fck.3	-	1	1034	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	121					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTCCTCGTCCCCCTCCTCA	0.687000														93			18		7.41877e-09	8.27011e-09	0.012319	1	0
APOO	79135	broad.mit.edu	37	X	23899066	23899066	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:23899066T>A	uc004dax.3	-	1	251	c.13A>T	c.(13-15)Att>Ttt	p.I5F	APOO_uc004day.4_Non-coding_Transcript	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA.	5					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GACCTCTGAATTACCTGAAAT	0.478000														37			29		0	0	0.003271	0	0
COPS2	9318	broad.mit.edu	37	15	49447771	49447771	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:49447771G>C	uc001zxh.3	-	0	84	c.5C>G	c.(4-6)tCt>tGt	p.S2C	GALK2_uc001zxi.1_5'Flank|COPS2_uc001zxf.3_Missense_Mutation_p.S2C|COPS2_uc010ufa.2_Missense_Mutation_p.S2C|LOC100306975_uc021sks.1_5'Flank	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	2					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTCCATGTCAGACATCTTGGC	0.557000														40			39		0	0	0.014410	0	0
CACNA1D	776	broad.mit.edu	37	3	53837571	53837571	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:53837571G>C	uc003dgv.4	+	43	5720	c.5557G>C	c.(5557-5559)Gag>Cag	p.E1853Q	CACNA1D_uc003dgu.4_Missense_Mutation_p.E1873Q|CACNA1D_uc003dgy.4_Missense_Mutation_p.E1829Q|CACNA1D_uc003dgw.4_Missense_Mutation_p.E1520Q|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1853					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGAATGCTACGAGGATGACAG	0.617000														169			84		0	0	0.014410	0	0
BCR	613	broad.mit.edu	37	22	23631729	23631729	+	Silent	SNP	C	G	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr22:23631729C>G	uc002zww.3	+	12	3224	c.2628C>G	c.(2626-2628)tcC>tcG	p.S876S	BCR_uc002zwx.3_Silent_p.S876S|BCR_uc011aiy.2_Silent_p.S465S|BCR_uc002zwy.2_Silent_p.S162S	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	876	C2.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCCTGACATCCGTGGAGCTGC	0.572000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									26			19		0	0	0.014323	0	0
RNF19A	25897	broad.mit.edu	37	8	101287238	101287238	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:101287238G>A	uc003yjj.1	-	3	1143	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	RNF19A_uc003yjk.1_Missense_Mutation_p.R276C	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	276					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GTTCTCAAACGTAAGCTCTGG	0.418000														61			24		0	0	0.004656	0	0
EPPK1	83481	broad.mit.edu	37	8	144945911	144945911	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:144945911C>T	uc003zaa.1	-	0	1524	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	504						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGGCCCCGGAACTTCCC	0.677000														15			8		0	0	0.003080	0	0
PSMC6	5706	broad.mit.edu	37	14	53175072	53175072	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr14:53175072A>G	uc010tqx.2	+	1	173	c.173A>G	c.(172-174)gAa>gGa	p.E58G	PSMC6_uc010tqv.2_Missense_Mutation_p.E58G|PSMC6_uc010tqw.2_Intron	NM_002806	NP_002797	P62333	PRS10_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 6 (PSMC6), mRNA.	44					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GAAAAGTCTGAAAATGATCTG	0.353000														18			20		0	0	0.004656	0	0
PLCG2	5336	broad.mit.edu	37	16	81953235	81953235	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:81953235C>A	uc002fgt.3	+	19	2379	c.2201C>A	c.(2200-2202)cCc>cAc	p.P734H	PLCG2_uc010chg.1_Missense_Mutation_p.P734H	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	734	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGCGCTACCCCGTGACCCCC	0.517000														57			23		6.38683e-12	7.23841e-12	0.008361	1	0
SEMA3E	9723	broad.mit.edu	37	7	83119551	83119551	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:83119551G>T	uc003uhy.2	-	1	776	c.155C>A	c.(154-156)cCt>cAt	p.P52H	SEMA3E_uc022agy.1_5'UTR	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	52	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAATCCAAAAGGGCTATGAAA	0.413000														47			18		3.51602e-12	4.05236e-12	0.008871	1	0
PDE8A	5151	broad.mit.edu	37	15	85610300	85610300	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:85610300G>A	uc002blh.3	+	2	488	c.299G>A	c.(298-300)tGt>tAt	p.C100Y	PDE8A_uc021stv.1_Missense_Mutation_p.C28Y|PDE8A_uc002bli.3_Missense_Mutation_p.C100Y|PDE8A_uc010bnc.3_5'UTR|PDE8A_uc010bnd.3_5'UTR|PDE8A_uc002blj.3_5'UTR|PDE8A_uc002blk.3_5'UTR	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	100					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGCAGGGCATGTGAAAAAGCA	0.383000														31			38		0	0	0.008740	0	0
TOX4	9878	broad.mit.edu	37	14	21961062	21961062	+	Silent	SNP	T	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr14:21961062T>A	uc001waz.3	+	6	1390	c.1287T>A	c.(1285-1287)gcT>gcA	p.A429A	TOX4_uc001way.3_Silent_p.A299A|TOX4_uc010tlu.2_Silent_p.A406A|TOX4_uc010tlv.2_Silent_p.A299A	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	429	Gln/Pro-rich.|Poly-Ala.					PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding	p.A429A(2)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAGCAGCAGCTGCTGCTGCTG	0.582000														96			3		0	0	0.004672	0	0
ARMC3	219681	broad.mit.edu	37	10	23292319	23292319	+	Silent	SNP	C	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:23292319C>T	uc001irm.4	+	12	1790	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	ARMC3_uc010qcv.2_Silent_p.N569N|ARMC3_uc010qcw.2_Silent_p.N306N	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	569							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATAATTAACGATGGATTCT	0.323000														51			42		0	0	0.014410	0	0
KIF25	3834	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:168430272T>A	uc003qwk.1	+	1	269	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_uc010kkt.1_Non-coding_Transcript|KIF25_uc003qwl.1_Missense_Mutation_p.W3R	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	3	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.W3R(2)|p.W3C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612000														129			4		0	0	0.009096	0	0
DHX38	9785	broad.mit.edu	37	16	72132924	72132924	+	Missense_Mutation	SNP	C	T	T	rs148934675		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72132924C>T	uc002fcb.3	+	5	1218	c.863C>T	c.(862-864)cCg>cTg	p.P288L	DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	288					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGGTCCACCCCGCGTCTGTCC	0.617000														29			16		0	0	0.007413	0	0
EPHA10	284656	broad.mit.edu	37	1	38227461	38227461	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:38227461C>T	uc009vvi.3	-	2	552	c.466G>A	c.(466-468)Gcg>Acg	p.A156T	EPHA10_uc001cbw.4_Missense_Mutation_p.A156T	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	156						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCGTCCGCCGCGATCGTGTCG	0.657000														40			4		0	0	0.009096	0	0
HSPA13	6782	broad.mit.edu	37	21	15748040	15748040	+	Silent	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:15748040G>A	uc002yjt.3	-	3	750	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HSPA13_uc011abx.2_Silent_p.G19G	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	227						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GAGTTCCTCCGCCCAAGTCTA	0.483000														97			32		0	0	0.003755	0	0
EGFR	1956	broad.mit.edu	37	7	55211008	55211008	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:55211008A>T	uc003tqk.3	+	2	497	c.251A>T	c.(250-252)gAg>gTg	p.E84V	EGFR_uc003tqh.3_Missense_Mutation_p.E84V|EGFR_uc003tqi.3_Missense_Mutation_p.E84V|EGFR_uc003tqj.3_Missense_Mutation_p.E84V|EGFR_uc022adm.1_Missense_Mutation_p.E84V|EGFR_uc010kzg.2_Missense_Mutation_p.E84V|EGFR_uc022adn.1_Missense_Mutation_p.E84V|EGFR_uc011kco.2_Missense_Mutation_p.E31V	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	84					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACCATCCAGGAGGTGGCTGGT	0.448000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				65			23		0	0	0.008361	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713782	70713782	+	Missense_Mutation	SNP	A	G	G	rs114580810	by1000genomes	TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr14:70713782A>G	uc010ttg.2	-	0	737	c.86T>C	c.(85-87)tTt>tCt	p.F29S						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		GTCACCAGCAAATTTTGGTTC	0.443000														64			3		0	0	0.000602	0	0
HLTF	6596	broad.mit.edu	37	3	148792096	148792096	+	Silent	SNP	A	C	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:148792096A>C	uc003ewq.1	-	3	653	c.435T>G	c.(433-435)ccT>ccG	p.P145P	HLTF_uc003ewr.1_Silent_p.P145P|HLTF_uc003ews.1_Silent_p.P145P|HLTF_uc010hve.1_Silent_p.P145P	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	145					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCATATGCAGAGGCATGGTAA	0.363000														21			31		0	0	0.003755	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686452	125686452	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:125686452G>A	uc022cds.1	-	0	140	c.140C>T	c.(139-141)aCg>aTg	p.T47M	DCAF12L1_uc004eul.3_Missense_Mutation_p.T47M	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	47								p.T47M(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAGCGATACGTCGCCGGCCG	0.721000														51			21		0	0	0.003954	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19209803	19209803	+	Silent	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209803G>A	uc001bbb.3	-	5	849	c.573C>T	c.(571-573)agC>agT	p.S191S	ALDH4A1_uc010ocu.2_Silent_p.S131S|ALDH4A1_uc001bbc.3_Silent_p.S191S|ALDH4A1_uc021ohl.1_Silent_p.S191S|MIR4695_uc021ohm.1_5'Flank	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	191				PPS -> LPY (in Ref. 9; AA sequence).	proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGCTGTTGGTGCTCGGGGGCA	0.647000														71			18		0	0	0.012319	0	0
FAM5C	339479	broad.mit.edu	37	1	190067492	190067492	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:190067492C>T	uc001gse.1	-	7	2189	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	FAM5C_uc010pot.1_Missense_Mutation_p.D551N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	653						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CGGGAAGGGTCAATAAACTCC	0.428000														57			35		0	0	0.003755	0	0
DNAH11	8701	broad.mit.edu	37	7	21640450	21640450	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:21640450C>T	uc003svc.3	+	15	3188	c.3157C>T	c.(3157-3159)Ctc>Ttc	p.L1053F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1053	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGCATTTTCTCTTGTATGG	0.438000									Kartagener syndrome					135			50		0	0	0.014410	0	0
ZNF57	126295	broad.mit.edu	37	19	2917807	2917807	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr19:2917807A>C	uc002lwr.3	+	3	1336	c.1188A>C	c.(1186-1188)caA>caC	p.Q396H	ZNF57_uc010xha.2_Missense_Mutation_p.Q364H	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGTGAACAATGTGGGAAGG	0.428000														85			5		0	0	0.001168	0	0
APBA1	320	broad.mit.edu	37	9	72131516	72131516	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:72131516G>T	uc004ahh.2	-	1	887	c.611C>A	c.(610-612)gCg>gAg	p.A204E		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	204					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CAGCTCGGGCGCGTCCCCTAT	0.721000														12			12		7.93312e-07	8.70084e-07	0.002450	1	0
TMEM217	221468	broad.mit.edu	37	6	37186714	37186714	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:37186714G>C	uc003onl.3	-	1	174	c.93C>G	c.(91-93)atC>atG	p.I31M	TMEM217_uc010jwr.3_Missense_Mutation_p.I31M|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Missense_Mutation_p.I31M	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN	Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA.	31						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TCTGTTCAAAGATGAGATACA	0.478000														158			3		0	0	0.004672	0	0
COL15A1	1306	broad.mit.edu	37	9	101778341	101778341	+	Silent	SNP	T	C	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:101778341T>C	uc004azb.1	+	10	1793	c.1587T>C	c.(1585-1587)ccT>ccC	p.P529P		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	529	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCGGCAGCCCTCCCCCTGATG	0.572000														60			3		0	0	0.004672	0	0
BCL9L	283149	broad.mit.edu	37	11	118772576	118772576	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:118772576T>C	uc001pug.3	-	5	2841	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	BCL9L_uc009zal.3_Missense_Mutation_p.M621V	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	626					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGGCATTCATGGGCACCTCC	0.622000														23			11		0	0	0.001855	0	0
NXF2	56001	broad.mit.edu	37	X	101623781	101623781	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:101623781A>G	uc022cav.1	-	11	1562	c.581T>C	c.(580-582)aTa>aCa	p.I194T	NXF2_uc004eiz.4_Missense_Mutation_p.I106T|NXF2_uc004ejb.4_Missense_Mutation_p.I194T|NXF2_uc004eiy.4_Missense_Mutation_p.I194T	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA.	194	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding			endometrium(2)|lung(2)	4						ATTGACAAATATACATATCTG	0.473000														59			24		0	0	0.010771	0	0
CDR1	1038	broad.mit.edu	37	X	139866364	139866364	+	Silent	SNP	A	G	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:139866364A>G	uc004fbg.1	-	0	360	c.168T>C	c.(166-168)gaT>gaC	p.D56D	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	56	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CTTCCAGCAAATCCACGTCTT	0.438000														154			3		0	0	0.009096	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906713	164906713	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:164906713G>T	uc003fej.4	-	1	2350	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T	SLITRK3_uc003fek.3_Missense_Mutation_p.P636T|SLITRK3_uc021xgy.1_Missense_Mutation_p.P636T	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	636						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCACTGGTTGGTGCCCCAATA	0.527000										HNSCC(40;0.11)				31			11		3.07112e-06	3.31486e-06	0.010729	1	0
METTL16	79066	broad.mit.edu	37	17	2324130	2324130	+	Silent	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:2324130G>A	uc002fut.3	-	8	1105	c.957C>T	c.(955-957)tcC>tcT	p.S319S	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Silent_p.S101S	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	319							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CCTTCATCACGGACGCCAGCA	0.453000														179			79		0	0	0.014410	0	0
PBRM1	55193	broad.mit.edu	37	3	52597305	52597305	+	Silent	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:52597305G>A	uc003des.2	-	23	4092	c.4080C>T	c.(4078-4080)ccC>ccT	p.P1360P	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Silent_p.P1360P|PBRM1_uc003der.2_Silent_p.P1328P|PBRM1_uc003det.2_Silent_p.P1375P|PBRM1_uc003deu.2_Silent_p.P1375P|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Silent_p.P1360P|PBRM1_uc010hmk.1_Silent_p.P1335P|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Silent_p.P1359P	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1360					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCACCTGTGGGGGTGTGTAGG	0.498000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									64			4		0	0	0.001168	0	0
KIF19	124602	broad.mit.edu	37	17	72343952	72343952	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:72343952G>A	uc002jkm.4	+	8	1099	c.961G>A	c.(961-963)Gct>Act	p.A321T	KIF19_uc002jkj.2_Missense_Mutation_p.A321T|KIF19_uc002jkk.2_Missense_Mutation_p.A279T|KIF19_uc002jkl.2_Missense_Mutation_p.A279T	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	321					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTGATGATCGCTCACATCAG	0.627000														8			3		0	0	0.009096	0	0
SLC45A4	57210	broad.mit.edu	37	8	142231748	142231748	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:142231748G>A	uc003ywd.1	-	1	513	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	SLC45A4_uc003ywc.1_Missense_Mutation_p.R69W|SLC45A4_uc010meq.1_Missense_Mutation_p.R67W	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	120					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ATGAAGGGCCGCCGGCGGCCC	0.617000														75			6		0	0	0.001984	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr4:146059006G>A	uc003ika.4	-	20	2864	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000														152			5		0	0	0.000602	0	0
WNK1	65125	broad.mit.edu	37	12	994382	994382	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr12:994382C>T	uc021qss.1	+	18	5835	c.5192C>T	c.(5191-5193)cCt>cTt	p.P1731L	WNK1_uc001qio.4_Missense_Mutation_p.P1471L|WNK1_uc021qst.1_Missense_Mutation_p.P1723L|WNK1_uc001qip.4_Missense_Mutation_p.P1224L|WNK1_uc001qir.4_Missense_Mutation_p.P644L	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1471					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGTCCTAAGCCTCCAGCTGTA	0.507000														82			27		0	0	0.005443	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19209838	19209838	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209838G>C	uc001bbb.3	-	5	814	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	ALDH4A1_uc010ocu.2_Missense_Mutation_p.L120V|ALDH4A1_uc001bbc.3_Missense_Mutation_p.L180V|ALDH4A1_uc021ohl.1_Missense_Mutation_p.L180V|MIR4695_uc021ohm.1_5'Flank	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	180					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGCCCCTCCAGCTCCACCGCA	0.642000														58			22		0	0	0.002780	0	0
GABRA1	2554	broad.mit.edu	37	5	161324195	161324195	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr5:161324195G>C	uc010jiw.3	+	10	1606	c.1138G>C	c.(1138-1140)Gcc>Ccc	p.A380P	GABRA1_uc010jix.3_Missense_Mutation_p.A380P|GABRA1_uc010jiy.3_Missense_Mutation_p.A380P|GABRA1_uc003lyx.4_Missense_Mutation_p.A380P|GABRA1_uc010jiz.3_Missense_Mutation_p.A380P|GABRA1_uc010jja.3_Missense_Mutation_p.A380P|GABRA1_uc010jjb.3_Missense_Mutation_p.A380P	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	380					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCCTAATTTGGCCAGGGGCGA	0.458000														118			36		0	0	0.011902	0	0
ZNF557	79230	broad.mit.edu	37	19	7083553	7083553	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr19:7083553C>G	uc002mga.3	+	7	1576	c.1091C>G	c.(1090-1092)aCa>aGa	p.T364R	ZNF557_uc002mgb.3_Missense_Mutation_p.T357R|ZNF557_uc002mgc.3_Missense_Mutation_p.T364R	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T364A(1)		endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TTTTCTCTTACAATTCACAGG	0.383000														47			4		0	0	0.009096	0	0
DNAH7	56171	broad.mit.edu	37	2	196877622	196877622	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:196877622C>T	uc002utj.4	-	9	979	c.878G>A	c.(877-879)cGt>cAt	p.R293H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	293	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAACTAAACGTAATTTTCT	0.279000														23			16		0	0	0.007413	0	0
TMEM39B	55116	broad.mit.edu	37	1	32542835	32542835	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:32542835C>T	uc010ogv.2	+	4	652	c.506C>T	c.(505-507)aCg>aTg	p.T169M	TMEM39B_uc010ogt.1_Intron|TMEM39B_uc010ogu.1_Missense_Mutation_p.T42M|TMEM39B_uc001buf.4_Intron|TMEM39B_uc010ogw.2_Intron	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	Homo sapiens transmembrane protein 39B (TMEM39B), mRNA.	169						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACCGTTCTCACGGCAACAGGC	0.592000														160			17		0	0	0.007413	0	0
DDX26B	203522	broad.mit.edu	37	X	134711345	134711345	+	Silent	SNP	A	G	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:134711345A>G	uc004eyw.4	+	13	2364	c.2001A>G	c.(1999-2001)gtA>gtG	p.V667V	DDX26B_uc004eyx.4_Silent_p.V268V	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	667										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCTTGTACATACAGGTA	0.443000														80			3		0	0	0.004672	0	0
LUZP4	51213	broad.mit.edu	37	X	114541268	114541268	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:114541268G>A	uc004eqa.3	+	3	875	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	LUZP4_uc004eqb.3_Missense_Mutation_p.V199M	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	281						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGAGATCTCGTGGCCACTGA	0.428000														105			21		0	0	0.003330	0	0
LRP1B	53353	broad.mit.edu	37	2	141274478	141274478	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:141274478C>G	uc002tvj.1	-	49	9101	c.8129G>C	c.(8128-8130)gGa>gCa	p.G2710A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2710	LDL-receptor class A 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATCACGTCCATCCTCACA	0.328000										TSP Lung(27;0.18)				67			25		0	0	0.012213	0	0
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-	rs112040677		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													---	4	---	---	3	---					
CRIPAK	285464	broad.mit.edu	37	4	1388467	1388468	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr4:1388467_1388468delCA	uc003gdf.2	+	0	3128_3129	c.168_169delCA	c.(166-171)ctcacafs	p.L56fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	56					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.644													---	1081	---	---	8	---					
CACNA1B	774	broad.mit.edu	37	9	140938299	140938299	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:140938299delC	uc004cog.3	+	20	3505	c.3360delC	c.(3358-3360)ggcfs	p.G1120fs	CACNA1B_uc022bqn.1_Frame_Shift_Del_p.G1120fs|CACNA1B_uc011mfd.2_Frame_Shift_Del_p.G721fs|CACNA1B_uc004coi.3_Frame_Shift_Del_p.G330fs	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1120					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAGGAGCGGCCCCCGGCCTA	0.597													---	408	---	---	7	---					
PTEN	5728	broad.mit.edu	37	10	89717715	89717716	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:89717715_89717716insA	uc001kfb.3	+	6	1772_1773	c.740_741insA	c.(739-741)ttafs	p.L247fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	247	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P248fs*5(13)|p.P246L(8)|p.R55fs*1(5)|p.L247*(5)|p.P246fs*10(3)|p.P246fs*3(2)|p.L247F(2)|p.P246fs*11(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.L247fs*6(2)|p.L247fs*4(2)|p.L247fs*5(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.L247L(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.P246_L247insGP(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	53	---	---	48	---					
BACH1	571	broad.mit.edu	37	21	30699512	30699513	+	Frame_Shift_Del	DEL	TA	-	-	rs145991657		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:30699512_30699513delTA	uc002ynk.3	+	2	1610_1611	c.1367_1368delTA	c.(1366-1368)ttafs	p.L456fs	BACH1_uc002ynj.3_Frame_Shift_Del_p.L456fs|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	456						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTCACAACATTAAGTTCTGTCA	0.436													---	53	---	---	29	---					
