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
C6	729	broad.mit.edu	37	5	41203312	41203312	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr5:41203312C>G	ENST00000263413.3	-	2	285	c.21G>C	c.(19-21)ttG>ttC	p.L7F	C6_ENST00000337836.5_Missense_Mutation_p.L7F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	7					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGATGAAGTACAAGACAGAGC	0.448000													6	123					0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19868237	19868237	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:19868237G>A	ENST00000535882.1	-	13	1086	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	TXNRD2_ENST00000400519.1_Missense_Mutation_p.R363W|TXNRD2_ENST00000400518.1_Missense_Mutation_p.R334W|TXNRD2_ENST00000400525.1_Missense_Mutation_p.R341W|TXNRD2_ENST00000542719.1_Missense_Mutation_p.R334W|TXNRD2_ENST00000400521.1_Missense_Mutation_p.R364W			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	364					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AGCTCAGGCCGCCCCTTGGGG	0.627000													3	29					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133670173	133670173	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:133670173A>G	ENST00000310926.4	-	6	1013	c.740T>C	c.(739-741)gTc>gCc	p.V247A	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.V171A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	247					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GTCACCCGGGACCAAGTTAAC	0.478000													13	49					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013642	149013642	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:149013642C>A	ENST00000535454.1	+	4	1145	c.596C>A	c.(595-597)aCg>aAg	p.T199K	MAGEA8_ENST00000286482.1_Missense_Mutation_p.T199K|MAGEA8_ENST00000542674.1_Missense_Mutation_p.T199K	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	199	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GATCAGAGTACGCCCAAGACC	0.592000													35	60					2.47316e-13	2.65194e-13	1	1	0
ACTN3	89	broad.mit.edu	37	11	66330634	66330634	+	RNA	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr11:66330634C>T	ENST00000502692.1	+	0	2921				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGGCCTTCTCCAGTGCCCTCT	0.627000													38	41					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35793494	35793494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:35793494G>A	ENST00000361922.4	+	7	1264	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	MAG_ENST00000537831.2_Missense_Mutation_p.E347K|MAG_ENST00000392213.3_Missense_Mutation_p.E372K	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	372	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGTCATCTACGAGAGCGAGCT	0.587000													9	101					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46659874	46659874	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr6:46659874A>G	ENST00000544460.1	+	1	4263	c.4009A>G	c.(4009-4011)Aga>Gga	p.R1337G	TDRD6_ENST00000316081.6_Missense_Mutation_p.R1337G	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1337					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCTTTCAGAGAGATTAAACAG	0.323000													7	106					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108788570	108788570	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:108788570A>C	ENST00000232603.5	-	9	806	c.724T>G	c.(724-726)Tct>Gct	p.S242A	MORC1_ENST00000483760.1_Missense_Mutation_p.S242A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	242					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TACAGAACAGATGTGTAGGCT	0.378000													26	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086638	9086638	+	Missense_Mutation	SNP	T	T	C	rs76669928	by1000genomes	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:9086638T>C	ENST00000397910.4	-	1	5380	c.5177A>G	c.(5176-5178)cAg>cGg	p.Q1726R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1726	Ser-rich.|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						TGTATTTCCCTGTGTGTTCAG	0.483000													4	105					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153225450	153225450	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:153225450G>C	ENST00000310441.7	-	8	2213	c.1247C>G	c.(1246-1248)cCg>cGg	p.P416R	HCFC1_ENST00000369984.4_Missense_Mutation_p.P416R|HCFC1_ENST00000354233.3_Intron	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	416					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATGGGACCGGATTGGGTGT	0.637000													32	104					0	0	1	0	0
LTBR	4055	broad.mit.edu	37	12	6494236	6494236	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr12:6494236C>T	ENST00000228918.4	+	3	568	c.242C>T	c.(241-243)gCc>gTc	p.A81V	LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000543190.1_5'UTR|LTBR_ENST00000539925.1_Missense_Mutation_p.A62V	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	81					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						ACAGTTTGTGCCACATGTGCC	0.587000													5	417					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91631134	91631134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:91631134G>T	ENST00000359028.2	+	9	2164	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E635*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E647*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	647	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGTCACGAAGAAGAGCTTTC	0.328000			T	BRAF	papillary thyroid								46	59					1.06522e-23	1.17043e-23	1	1	0
FRG1B	0	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													4	100					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247712382	247712382	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:247712382C>T	ENST00000366490.3	+	4	409	c.251C>T	c.(250-252)cCc>cTc	p.P84L	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_3'UTR					germinal center-associated, signaling and motility-like																		GAGCACGAACCCGTGGTCAGA	0.547000													5	10					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50091994	50091994	+	Splice_Site	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr20:50091994C>T	ENST00000371564.3	-	4	1755		c.e4+1		NFATC2_ENST00000414705.1_Splice_Site|NFATC2_ENST00000396009.3_Splice_Site	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCAGCCCTTACGTTGCCCTCA	0.567000													28	100					0	0	1	0	0
MIR892B	0	broad.mit.edu	37	X	145078727	145078727	+	RNA	SNP	C	C	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:145078727C>A	ENST00000401279.1	-	0	65					NR_030593.1																						GAGCCTTGCTCTACCCAGAAA	0.498000													3	6					0.115264	0.116574	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84373247	84373247	+	Missense_Mutation	SNP	G	G	T	rs77028575	byFrequency	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:84373247G>T	ENST00000286744.5	+	3	400	c.176G>T	c.(175-177)cGc>cTc	p.R59L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R59L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	59						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCACTTATCGCTATGATGAC	0.453000													65	102					3.94839e-29	4.39259e-29	1	1	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	95					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2954958	2954958	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:2954958G>A	ENST00000396946.4	-	21	3155	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	918					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATGCGGACCCGCTCGTTGCTG	0.592000			Mis		DLBCL								34	80					0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094748	30094748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr16:30094748G>A	ENST00000279387.7	+	6	505	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	PPP4C_ENST00000561610.1_Missense_Mutation_p.G113S	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	113					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						ACTGATCCGGGGCAACCATGA	0.602000													4	140					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72755293	72755293	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:72755293T>C	ENST00000252037.4	+	7	874	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	FKBP6_ENST00000431982.2_Missense_Mutation_p.Y264H|FKBP6_ENST00000413573.2_Missense_Mutation_p.Y239H	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	269					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGACTGAGTATCAAAAGGC	0.463000													24	290					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760764	15760764	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:15760764C>G	ENST00000221307.7	+	7	737	c.689C>G	c.(688-690)gCc>gGc	p.A230G	CYP4F3_ENST00000591058.1_Missense_Mutation_p.A230G|CYP4F3_ENST00000585846.1_Missense_Mutation_p.A230G|CYP4F3_ENST00000586182.1_Missense_Mutation_p.A230G	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	230					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGCTCAGTGCCCTTGTGACA	0.527000													4	242					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9886961	9886961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr18:9886961G>A	ENST00000306084.6	+	2	684	c.485G>A	c.(484-486)gGc>gAc	p.G162D	TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D|TXNDC2_ENST00000357775.4_Missense_Mutation_p.G95D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	162	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGCTGGGCAATATTCCC	0.562000													86	146					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005398	25005398	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:25005398C>A	ENST00000382114.4	-	8	1498	c.1313G>T	c.(1312-1314)cGc>cTc	p.R438L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	438						extracellular region		p.R438H(1)|p.R438L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCCGATGAAGCGGGTAAGGGA	0.542000													15	375					1.99824e-07	2.11718e-07	1	1	0
PHIP	55023	broad.mit.edu	37	6	79688363	79688363	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr6:79688363C>G	ENST00000275034.4	-	24	3002	c.2835G>C	c.(2833-2835)tgG>tgC	p.W945C	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	945	Mediates interaction with IRS1 (By similarity).				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TATCTGTAATCCATGTTGATG	0.338000													3	64					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								24	40					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161019353	161019353	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:161019353G>A	ENST00000368013.3	-	11	1867	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S339L|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S516L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	516					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S516L(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGAGCTGCTTGAGTCCTCTAG	0.647000													66	110					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100630146	100630146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:100630146C>T	ENST00000308731.7	-	2	290	c.127G>A	c.(127-129)Gac>Aac	p.D43N	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.D43N	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	43	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGTTCAAAGTCATACTCATAG	0.408000									Agammaglobulinemia, X-linked				5	155					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692295	20692295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:20692295G>A	ENST00000315519.2	+	1	505	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCGGTACCTGGCCATCTGTCG	0.438000													4	133					0	0	1	0	0
PHF17	0	broad.mit.edu	37	4	129782915	129782915	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:129782915C>T	ENST00000226319.6	+	9	1318	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	PHF17_ENST00000512960.1_Silent_p.G346G|PHF17_ENST00000452328.2_Silent_p.G334G|PHF17_ENST00000413543.2_Silent_p.G346G|PHF17_ENST00000511647.1_Silent_p.G346G	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		346					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTGACCGGGGCCTGGAGATGA	0.478000													58	112					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10431167	10431167	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:10431167T>C	ENST00000245503.5	-	28	4153	c.3769A>G	c.(3769-3771)Act>Gct	p.T1257A	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T1257A	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1257					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTCTAGAGTCCGGCACATT	0.448000													6	85					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	33					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39552727	39552727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:39552727G>A	ENST00000251645.2	-	3	585	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	178	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTCCACCTGGGCCTCCAGGTC	0.587000													27	57					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298904	125298904	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:125298904C>G	ENST00000538699.1	-	2	1084	c.1004G>C	c.(1003-1005)cGc>cCc	p.R335P	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R335P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335								p.R335H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGGCGCTGGCGCGGATCCAG	0.627000													11	158					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158298792	158298792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:158298792G>A	ENST00000368168.3	-	5	1006	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	300					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGAGCCAATGGAGGTGGGGTT	0.463000													17	38					0	0	1	0	0
TUBBP5	0	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													5	101					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15967388	15967388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:15967388G>A	ENST00000268712.3	-	35	5472	c.5215C>T	c.(5215-5217)Cgg>Tgg	p.R1739W	NCOR1_ENST00000395857.3_Missense_Mutation_p.R323W|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1755W	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1739	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGACCTGGCCGCAGGTAGAGG	0.542000													4	116					0	0	1	0	0
C8orf33	65265	broad.mit.edu	37	8	146278473	146278473	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:146278473C>T	ENST00000331434.6	+	3	458	c.344C>T	c.(343-345)gCt>gTt	p.A115V		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	115										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CAGGAATTGGCTTGGTGTGTG	0.587000													6	86					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123140536	123140536	+	Silent	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:123140536A>G	ENST00000264501.4	+	21	2662	c.2289A>G	c.(2287-2289)gaA>gaG	p.E763E	KIAA1109_ENST00000388738.3_Silent_p.E763E|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Silent_p.E763E			Q2LD37	K1109_HUMAN	KIAA1109	763					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGATTTTGAAGAGGTTATCT	0.353000													59	97					0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119576827	119576827	+	Silent	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:119576827G>A	ENST00000369426.5	-	5	528	c.525C>T	c.(523-525)caC>caT	p.H175H	WARS2_ENST00000235521.4_Silent_p.H175H|WARS2_ENST00000537870.1_Silent_p.H81H			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	175					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.H175H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGGAACGTGTGTGGACC	0.433000													27	53					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196533532	196533532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:196533532C>T	ENST00000327134.3	+	6	873	c.551C>T	c.(550-552)gCc>gTc	p.A184V		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	184					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCCGTTATTGCCCCGCGACCG	0.483000													4	59					0	0	1	0	0
ADSS	159	broad.mit.edu	37	1	244581040	244581040	+	Silent	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:244581040T>C	ENST00000366535.3	-	10	1276	c.960A>G	c.(958-960)ttA>ttG	p.L320L		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	320					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTGTTTGTAATAATTCTCCAA	0.363000													20	25					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56178277	56178277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr5:56178277G>A	ENST00000399503.3	+	14	3250	c.3250G>A	c.(3250-3252)Gat>Aat	p.D1084N		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1084					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CATGACACTTGATCTGAACAG	0.453000													6	72					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052501	52052501	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr6:52052501G>A	ENST00000340057.1	+	2	173	c.128G>A	c.(127-129)cGg>cAg	p.R43Q		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	43					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AACTTCCCCCGGACTGTGATG	0.498000													4	228					0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920497	219920497	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:219920497A>G	ENST00000295731.5	-	3	667	c.668T>C	c.(667-669)gTg>gCg	p.V223A		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	223					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCGGCCTCACGGCTGACAA	0.682000													4	86					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107976811	107976811	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:107976811C>T	ENST00000372129.2	-	1	2840	c.2764G>A	c.(2764-2766)Gtc>Atc	p.V922I		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	922						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCCATGTTGACGTAGTCACTA	0.443000													6	340					0	0	1	0	0
MIR223	0	broad.mit.edu	37	X	65238789	65238789	+	RNA	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:65238789T>C	ENST00000385204.1	+	0	78					NR_029637.1																						TGTCAGTTTGTCAAATACCCC	0.542000													7	8					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548908	50548908	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:50548908A>G	ENST00000595661.1	+	6	1703	c.1208A>G	c.(1207-1209)tAt>tGt	p.Y403C	CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.Y403C|ZNF473_ENST00000270617.3_Missense_Mutation_p.Y403C|ZNF473_ENST00000445728.3_Missense_Mutation_p.Y391C			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	403	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAGGAGCCTTATAAGTGTAAC	0.473000													4	103					0	0	1	0	0
MIR223	0	broad.mit.edu	37	X	65238776	65238776	+	RNA	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:65238776G>C	ENST00000385204.1	+	0	65					NR_029637.1																						CCATGTGGTAGAGTGTCAGTT	0.542000													6	7					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84525047	84525047	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:84525047A>G	ENST00000360700.4	+	9	2027	c.1141A>G	c.(1141-1143)Aca>Gca	p.T381A	ZNF711_ENST00000373165.3_Missense_Mutation_p.T335A|ZNF711_ENST00000542798.1_Missense_Mutation_p.T177A|ZNF711_ENST00000276123.3_Missense_Mutation_p.T335A|ZNF711_ENST00000395402.1_Missense_Mutation_p.T343A			Q9Y462	ZN711_HUMAN	zinc finger protein 711	335					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGAAGTAGTACAGCAGCACA	0.348000													19	53					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282566	23282566	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:23282566C>T	ENST00000397532.3	-	2	567	c.42G>A	c.(40-42)gaG>gaA	p.E14E	SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000397528.4_Silent_p.E14E|SLC7A7_ENST00000397529.2_Silent_p.E14E|SLC7A7_ENST00000555702.1_Silent_p.E14E|SLC7A7_ENST00000285850.7_Silent_p.E14E			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	14					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGGTTTCCACCTCAGGCTGGG	0.562000													38	77					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057162	120057162	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:120057162C>T	ENST00000235547.6	+	4	1161	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	HSD3B1_ENST00000369413.3_Missense_Mutation_p.A339V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A339V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	339					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.A339V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CGAGATCTGGCGTATAAGCCA	0.512000													6	98					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72976874	72976874	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:72976874C>T	ENST00000553530.1	+	14	1185	c.978C>T	c.(976-978)agC>agT	p.S326S	RGS6_ENST00000406236.4_Silent_p.S326S|RGS6_ENST00000402788.2_Silent_p.S326S|RGS6_ENST00000554782.1_Silent_p.S187S|RGS6_ENST00000407322.4_Silent_p.S326S|RGS6_ENST00000556437.1_Silent_p.S326S|RGS6_ENST00000555571.1_Silent_p.S326S|RGS6_ENST00000404301.2_Silent_p.S326S|RGS6_ENST00000553525.1_Silent_p.S326S|RGS6_ENST00000434263.2_Silent_p.S257S|RGS6_ENST00000355512.6_Silent_p.S326S|RGS6_ENST00000343854.6_Silent_p.S289S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	326	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AAGAGCCCAGCCAACAGCGAG	0.458000													11	215					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96005955	96005955	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:96005955G>T	ENST00000260766.3	+	8	3307	c.2673G>T	c.(2671-2673)ttG>ttT	p.L891F	PLCE1_ENST00000371385.3_Missense_Mutation_p.L583F|PLCE1_ENST00000371375.1_Missense_Mutation_p.L583F|PLCE1_ENST00000371380.2_Missense_Mutation_p.L891F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	891					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATAGCACCTTGACCTGGGTAA	0.552000													28	29					1.77063e-15	1.92178e-15	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105414216	105414216	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:105414216C>T	ENST00000333244.5	-	7	7691	c.7572G>A	c.(7570-7572)ggG>ggA	p.G2524G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2524						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTGAGGTCCCCCTGCATGG	0.662000													7	293					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975482	20975482	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr16:20975482T>C	ENST00000261383.3	-	53	9723	c.9724A>G	c.(9724-9726)Atc>Gtc	p.I3242V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3242	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCTCCAAGATCTTATCTTCA	0.463000													7	110					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	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													4	184					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128360469	128360469	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr11:128360469T>C	ENST00000392668.3	-	4	285	c.217A>G	c.(217-219)Atg>Gtg	p.M73V	ETS1_ENST00000531611.1_Missense_Mutation_p.M29V|ETS1_ENST00000526145.1_Missense_Mutation_p.M29V|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000319397.5_Missense_Mutation_p.M29V|ETS1_ENST00000345075.4_Missense_Mutation_p.M29V	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	29	PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCACATTCCATATCTGCATGA	0.353000													3	43					0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623853	25623853	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:25623853C>T	ENST00000398215.2	+	4	378	c.207C>T	c.(205-207)ggC>ggT	p.G69G		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	69	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						ACTGCAAGGGCGAGCAGTTTG	0.587000													45	80					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101347483	101347483	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:101347483G>A	ENST00000534062.1	-	1	3701	c.3643C>T	c.(3643-3645)Cgt>Tgt	p.R1215C		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	1215										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CGGTTCTGACGCAGGGCAGGG	0.627000													4	2					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397844	111397844	+	Nonsense_Mutation	SNP	C	C	T	rs143343563		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:111397844C>T	ENST00000265162.5	+	1	616	c.274C>T	c.(274-276)Cga>Tga	p.R92*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	92					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GAAAAACTTTCGACTGCCGGA	0.612000													16	119					0	0	1	0	0
MIR223	0	broad.mit.edu	37	X	65238753	65238753	+	RNA	SNP	T	T	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:65238753T>G	ENST00000385204.1	+	0	42					NR_029637.1																						TTTGACAAGCTGAGTTGGACA	0.532000													6	8					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145639357	145639357	+	Silent	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:145639357C>G	ENST00000276833.5	-	6	1500	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	SLC39A4_ENST00000301305.3_Silent_p.L424L	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	424						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGTCCCTGGGCAGCAGGAGAT	0.652000													15	10					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704343	29704343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:29704343G>A	ENST00000471961.1	+	1	1296	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	GAS2L1_ENST00000407854.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000406549.3_Missense_Mutation_p.R83Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R83Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000341313.6_Missense_Mutation_p.R83Q|GAS2L1_ENST00000360113.2_Missense_Mutation_p.R83Q			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	83	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CGCCCGGCCCGAGGTGTGGCC	0.692000													6	24					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89386881	89386881	+	Splice_Site	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:89386881T>C	ENST00000439576.2	+	6	1425		c.e6+2		ACAN_ENST00000559004.1_Splice_Site|ACAN_ENST00000558207.1_Splice_Site|ACAN_ENST00000352105.7_Splice_Site|ACAN_ENST00000561243.1_Splice_Site	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan						cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTACACAGGTGGGGCACGGC	0.607000													11	93					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:7578524G>C	ENST00000420246.2	-	5	538	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000269305.4_Missense_Mutation_p.Q136E|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGGCCAGTTGGCAAAACATC	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			55	14					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	133					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179591837	179591837	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:179591837C>A	ENST00000589042.1	-	69	20479	c.20255G>T	c.(20254-20256)aGt>aTt	p.S6752I	TTN_ENST00000591111.1_Missense_Mutation_p.S6435I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5508I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6435	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTTGGTACTGCAGCTTGT	0.418000													6	104					0.00198382	0.00202942	1	1	0
FBN1	2200	broad.mit.edu	37	15	48764791	48764791	+	Silent	SNP	G	G	A	rs112375043		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:48764791G>A	ENST00000316623.5	-	35	4748	c.4293C>T	c.(4291-4293)tgC>tgT	p.C1431C		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1431	EGF-like 24; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCCATGTCGCATTCACAGC	0.527000													71	106					0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236389980	236389980	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:236389980T>A	ENST00000354619.5	-	11	973	c.772A>T	c.(772-774)Aat>Tat	p.N258Y		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	258					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGATGTAAATTGATGCTAGCA	0.299000													4	94					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75612950	75612950	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:75612950A>T	ENST00000394893.1	+	9	963	c.943A>T	c.(943-945)Atc>Ttc	p.I315F	POR_ENST00000545601.1_Missense_Mutation_p.I123F|POR_ENST00000450476.1_Missense_Mutation_p.I214F|POR_ENST00000439269.1_Missense_Mutation_p.I53F|POR_ENST00000461988.1_Missense_Mutation_p.I315F|POR_ENST00000419840.1_Missense_Mutation_p.I129F			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	312	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	GGACTCCAAAATCAGGTACCA	0.622000													4	175					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922452	43922452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:43922452G>A	ENST00000602198.1	+	8	1149	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	TEX101_ENST00000253435.7_Missense_Mutation_p.R236Q|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Missense_Mutation_p.R218Q	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	218						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ACTCAACCTCGAAAGACTGAA	0.498000													53	79					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1636086	1636086	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:1636086A>G	ENST00000409644.1	+	6	4450	c.4450A>G	c.(4450-4452)Atg>Gtg	p.M1484V	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.M257V|WDR81_ENST00000446363.1_Missense_Mutation_p.M123V|WDR81_ENST00000545662.1_Missense_Mutation_p.M115V|WDR81_ENST00000437219.2_Missense_Mutation_p.M281V|WDR81_ENST00000309182.5_Missense_Mutation_p.M433V	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	257										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCTGGAGATGGCATACAC	0.627000													22	27					0	0	1	0	0
FABP9	646480	broad.mit.edu	37	8	82371474	82371474	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:82371474A>T	ENST00000379071.2	-	2	227	c.172T>A	c.(172-174)Ttc>Atc	p.F58I	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	58							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			GTGTCCTGGAAAGAACTTTCT	0.433000													5	152					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25743874	25743874	+	Silent	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr13:25743874T>C	ENST00000357816.2	-	3	2002	c.1527A>G	c.(1525-1527)caA>caG	p.Q509Q	AMER2_ENST00000381853.3_Silent_p.Q509Q|AMER2_ENST00000515384.1_Silent_p.Q628Q					APC membrane recruitment protein 2																		TCCTGGAGGGTTGCTGGTGCA	0.557000													65	102					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7027291	7027291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:7027291G>A	ENST00000382040.3	+	3	870	c.734G>A	c.(733-735)tGg>tAg	p.W245*	RSAD2_ENST00000541728.1_Nonsense_Mutation_p.W138*	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	245					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CCTGTCCGCTGGAAAGTAAGT	0.378000													14	42					0	0	1	0	0
GJC3	349149	broad.mit.edu	37	7	99526519	99526519	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:99526519T>G	ENST00000312891.2	-	1	724	c.725A>C	c.(724-726)aAg>aCg	p.K242T		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	242						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGTTGCTTTCTTGTGTCTTCT	0.483000													19	72					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	67					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39306546	39306546	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:39306546C>T	ENST00000381897.1	-	15	2134	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	RFC1_ENST00000349703.2_Silent_p.E666E	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	667					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGTATCCCAACTCCTAATCAA	0.433000													16	219					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110385378	110385378	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:110385378A>G	ENST00000519681.1	+	6	672	c.230A>G	c.(229-231)gAg>gGg	p.E77G	PAK3_ENST00000446737.1_Missense_Mutation_p.E77G|PAK3_ENST00000425146.1_Missense_Mutation_p.E77G|PAK3_ENST00000417227.1_Missense_Mutation_p.E77G|PAK3_ENST00000360648.4_Missense_Mutation_p.E77G|PAK3_ENST00000262836.4_Missense_Mutation_p.E77G|PAK3_ENST00000518291.1_Missense_Mutation_p.E77G|PAK3_ENST00000372007.4_Missense_Mutation_p.E77G|PAK3_ENST00000372010.1_Missense_Mutation_p.E77G			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	77	Autoregulatory region (By similarity).|CRIB.|GTPase-binding (By similarity).				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCAGACTTTGAGCATACGATT	0.403000										TSP Lung(19;0.15)			5	204					0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101464242	101464242	+	Silent	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:101464242T>C	ENST00000370489.4	+	13	1795	c.1617T>C	c.(1615-1617)caT>caC	p.H539H	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	539						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GACAAGCCCATGGTAGCTGGT	0.458000													37	72					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618474	134618476	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:134618474_134618476delGGA	ENST00000361675.2	+	5	1183_1185	c.954_956delGGA	c.(952-957)agg>ag	p.RE318del	CALD1_ENST00000543443.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron			Q05682	CALD1_HUMAN	caldesmon 1	318					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						aaaggatgagggaggaagagaaa	0.483													8	7	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76778782	76778782	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:76778782delA	ENST00000373344.5	-	31	7011	c.6797delT	c.(6796-6798)tgfs	p.L2266fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2228fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2266					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTTCAGTCAACTCTTCTTC	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						48	148	---	---	---	---