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
TSGA10	80705	broad.mit.edu	37	2	99689479	99689479	+	Splice_Site	SNP	A	C	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:99689479A>C	uc002szg.4	-	11	1566	c.938_splice	c.e11+1	p.R313_splice	TSGA10_uc002szh.4_Splice_Site_p.R313_splice|TSGA10_uc002szi.4_Splice_Site_p.R313_splice|TSGA10_uc010fin.1_Splice_Site_p.R313_splice|TSGA10_uc010yvn.1_Intron	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	313					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CGACTGATTTACCTTGATGCC	0.353000														90			88		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51712728	51712728	+	Missense_Mutation	SNP	A	G	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr6:51712728A>G	uc003pah.1	-	49	8228	c.7952T>C	c.(7951-7953)cTa>cCa	p.L2651P	PKHD1_uc010jzn.1_Missense_Mutation_p.L634P|PKHD1_uc003pai.3_Missense_Mutation_p.L2651P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2651					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCAGCAGTAGGTAATTACC	0.458000														6			64		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216073458	216073458	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr1:216073458C>T	uc001hku.1	-	39	7940	c.7553G>A	c.(7552-7554)aGt>aAt	p.S2518N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2518	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTATGTGCACTGCCAAATCC	0.423000										HNSCC(13;0.011)				15			16		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670175	44670175	+	Silent	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr20:44670175C>T	uc010zxl.1	+	7	1207	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.I354I	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	377					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGGCCTCATCAAAGGTCTGC	0.557000														37			29		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37307384	37307384	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr1:37307384C>T	uc001caz.2	-	9	1618	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	GRIK3_uc001cba.1_Missense_Mutation_p.D495N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	495					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCCTTGTCATCCTGTGCCCCG	0.597000														161			150		0	0	1	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	G	G	rs115341812	by1000genomes	TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000														24			3		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr20:29628300G>A	uc010ztl.1	+	2	244	c.212G>A	c.(211-213)aGt>aAt	p.S71N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000														41			4		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128564929	128564929	+	Missense_Mutation	SNP	A	G	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr4:128564929A>G	uc003ifk.2	+	1	503	c.400A>G	c.(400-402)Aat>Gat	p.N134D	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	134										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAAAAATAGCAATGACAATGG	0.358000														18			15		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934490	56934490	+	Missense_Mutation	SNP	A	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:56934490A>T	uc010ygl.1	+	4	628	c.463A>T	c.(463-465)Aat>Tat	p.N155Y	ZNF583_uc002qnc.2_Missense_Mutation_p.N155Y|ZNF583_uc010ygm.1_Missense_Mutation_p.N155Y	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AGAAGTTCAAAATAAAGAATA	0.363000														27			22		0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21334413	21334413	+	Missense_Mutation	SNP	A	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr9:21334413A>T	uc003zoy.3	-	0	1017	c.446T>A	c.(445-447)gTc>gAc	p.V149D	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	149					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATCCAAAGAGACTCCTGATAT	0.338000														63			51		0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135732541	135732541	+	Missense_Mutation	SNP	G	C	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr6:135732541G>C	uc003qgi.3	-	20	3290	c.2906C>G	c.(2905-2907)aCt>aGt	p.T969S	AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Missense_Mutation_p.T419S|AHI1_uc003qgh.3_Missense_Mutation_p.T969S|AHI1_uc003qgj.3_Missense_Mutation_p.T969S|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Missense_Mutation_p.T969S	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	969						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGAACTTTCAGTGTGGACAAA	0.373000														5			20		0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924730	153924730	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr1:153924730G>A	uc021pab.1	-	9	920	c.761C>T	c.(760-762)cCa>cTa	p.P254L	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	254					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCAGGAGATGGAAAGATGCT	0.552000														93			67		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853728	40853728	+	Missense_Mutation	SNP	G	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr5:40853728G>T	uc003jmg.3	+	2	2369	c.2294G>T	c.(2293-2295)tGg>tTg	p.W765L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	765					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGGCCTAAGTGGTTCCATCCT	0.483000														143			99		7.15876e-41	7.99395e-41	1	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16848063	16848063	+	Missense_Mutation	SNP	A	C	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr11:16848063A>C	uc010rcu.1	-	9	962	c.947T>G	c.(946-948)gTg>gGg	p.V316G	PLEKHA7_uc001mmo.3_Missense_Mutation_p.V316G|PLEKHA7_uc001mmn.3_Missense_Mutation_p.V24G	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	316					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCGGGTCCCACCCGGCCACA	0.577000														159			11		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670867	49670867	+	Missense_Mutation	SNP	C	G	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr16:49670867C>G	uc002efs.3	-	4	2494	c.2196G>C	c.(2194-2196)aaG>aaC	p.K732N	ZNF423_uc010vgn.2_Missense_Mutation_p.K615N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	732					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGATGGACACCTTGGAGTCGA	0.567000														54			57		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142480802	142480802	+	Silent	SNP	G	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr8:142480802G>A	uc003ywi.2	-	16	2148	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	689							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GTGGGGCTCCGTCCGAATGGG	0.632000														4			4		0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45743723	45743723	+	Silent	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr21:45743723C>T	uc002zek.3	+	18	2114	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	PFKL_uc002zel.3_Silent_p.I524I|PFKL_uc002zem.3_Silent_p.I111I|PFKL_uc002zen.3_Silent_p.I111I			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	524					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGTGTGTCATCCCAGCCACCA	0.642000														33			27		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130066334	130066334	+	Missense_Mutation	SNP	A	G	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr11:130066334A>G	uc001qfw.3	+	9	1407	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S	ST14_uc010sca.1_Missense_Mutation_p.N215S	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	405	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTGGAGATCAACGGGGAGAAG	0.677000														22			5		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101592098	101592098	+	Missense_Mutation	SNP	C	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr15:101592098C>A	uc002bwr.3	+	23	3941	c.3622C>A	c.(3622-3624)Cac>Aac	p.H1208N	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1208					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGCCCCAGACACCCGGACCT	0.617000														51			45		5.2432e-18	5.5761e-18	1	1	0
ITIH3	3699	broad.mit.edu	37	3	52830615	52830615	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr3:52830615C>T	uc003dfv.2	+	2	269	c.233C>T	c.(232-234)tCc>tTc	p.S78F	ITIH3_uc011bek.1_Missense_Mutation_p.S78F	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	78	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S78S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AAGGAGGTTTCCTTTGATGTG	0.562000														26			16		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900948	123900948	+	Missense_Mutation	SNP	T	G	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr11:123900948T>G	uc001pzp.1	+	0	619	c.619T>G	c.(619-621)Tcg>Gcg	p.S207A		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AATAGTGGCCTCGGGCTGCTT	0.537000														75			54		0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17080727	17080727	+	Splice_Site	SNP	G	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr17:17080727G>A	uc002gqy.2	+	7	4052	c.3646_splice	c.e7+1	p.D1216_splice	MPRIP_uc002gqu.2_Splice_Site_p.D987_splice|MPRIP_uc002gqv.2_Splice_Site_p.D987_splice|MPRIP_uc002gqw.2_Splice_Site_p.D742_splice|MPRIP_uc002gqx.2_Splice_Site_p.D1216_splice|MPRIP_uc010cpl.2_Splice_Site_p.D173_splice|MPRIP_uc010cpm.2_Splice_Site_p.D173_splice			Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	987						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TCCGGATATGGTGCGTCCTCG	0.582000														149			59		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50102854	50102854	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:50102854C>T	uc002poo.4	+	4	4004	c.4004C>T	c.(4003-4005)cCc>cTc	p.P1335L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	514							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GTGCCACATCCCCCACCTTCC	0.697000														17			11		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116415115	116415115	+	Missense_Mutation	SNP	T	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr7:116415115T>A	uc003vij.3	+	14	3396	c.3209T>A	c.(3208-3210)gTg>gAg	p.V1070E	MET_uc010lkh.3_Missense_Mutation_p.V1088E|MET_uc011knj.2_Missense_Mutation_p.V640E	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1070					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.V1088E(1)|p.Q1029_G1105del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGCATGTAGTGATTGGGCCC	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					100			144		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132393457	132393457	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:132393457G>A	uc001uje.3	+	6	773	c.505G>A	c.(505-507)Gcg>Acg	p.A169T		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	169	Protein kinase.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTTCGGCTTCGCGCGGTACCT	0.711000														52			44		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31523948	31523948	+	Missense_Mutation	SNP	G	C	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr22:31523948G>C	uc003aju.4	+	6	1891	c.1799G>C	c.(1798-1800)tGg>tCg	p.W600S	INPP5J_uc003ajw.3_Missense_Mutation_p.W36S|INPP5J_uc003ajt.4_Missense_Mutation_p.W232S|INPP5J_uc003ajv.4_Missense_Mutation_p.W233S|INPP5J_uc003ajs.4_Missense_Mutation_p.W233S|INPP5J_uc011alk.2_Missense_Mutation_p.W533S|INPP5J_uc010gwg.3_Missense_Mutation_p.W165S	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	600	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CTCGTGTTCTGGTTCGGGGAC	0.577000														51			37		0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9578354	9578354	+	RNA	SNP	A	C	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:9578354A>C	uc021qut.1	-	6		c.499T>G			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		AATTGCTGAAACCCAGCCAGT	0.597000														33			9		0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29670368	29670368	+	Silent	SNP	A	G	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:29670368A>G	uc021qwi.1	-	13	2220	c.2161T>C	c.(2161-2163)Ttg>Ctg	p.L721L	TMTC1_uc001riz.3_Silent_p.L370L|TMTC1_uc001rja.3_Silent_p.L457L|TMTC1_uc001rjb.3_Silent_p.L613L|TMTC1_uc001riy.3_Silent_p.L66L	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	721						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACCAGTGCCAAGCGGAGCTCC	0.517000														40			31		0	0	1	0	0
HAPLN2	60484	broad.mit.edu	37	1	156593855	156593855	+	Silent	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr1:156593855C>T	uc001fpn.1	+	3	749	c.342C>T	c.(340-342)gtC>gtT	p.V114V	HAPLN2_uc010phq.1_Silent_p.V114V	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 2 (HAPLN2), mRNA.	114	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCCCTGGTCATCGCGGGCG	0.692000														22			36		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103430982	103430982	+	Silent	SNP	C	T	T	rs142014338		TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr14:103430982C>T	uc001ymi.1	-	18	2815	c.2583G>A	c.(2581-2583)ccG>ccA	p.P861P	CDC42BPB_uc001ymj.1_5'UTR	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	861					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTTCCACAGCGGGTCCTTGA	0.532000														35			3		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193773	139193773	+	Silent	SNP	T	C	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr5:139193773T>C	uc003leu.1	+	3	1045	c.840T>C	c.(838-840)gaT>gaC	p.D280D		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	280	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGAAGGATGGCCTGTCAG	0.632000														242			216		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114397941	114397941	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:114397941C>T	uc009zwi.2	-	2	406	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	RBM19_uc001tvn.4_Missense_Mutation_p.A88T|RBM19_uc001tvm.3_Missense_Mutation_p.A88T	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	88					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTGCTCCAGGCTCTGGGTTTG	0.532000														80			48		0	0	1	0	0
LOC284100	284100	broad.mit.edu	37	17	36214775	36214775	+	RNA	SNP	G	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr17:36214775G>T	uc002hom.1	-	1		c.184C>A			LOC284100_uc002hon.1_Non-coding_Transcript					Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene (LOC284100), non-coding RNA.									p.T41N(6)		endometrium(6)|kidney(1)	7						CTTGCCAGTGGTAGCTGCTGG	0.353000														22			8		6.5536e-12	6.6529e-12	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56459468	56459468	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:56459468G>A	uc002qmh.3	+	0	271	c.200G>A	c.(199-201)gGc>gAc	p.G67D	NLRP8_uc010etg.3_Missense_Mutation_p.G67D	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	67	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCAGTACTGGCACCATGCCC	0.557000														22			21		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10258306	10258306	+	Silent	SNP	C	G	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr17:10258306C>G	uc002gmk.1	-	9	897	c.807G>C	c.(805-807)ctG>ctC	p.L269L		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	269	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATTTTTCTAACAGATCTAAGG	0.368000														64			15		0	0	1	0	0
LYAR	55646	broad.mit.edu	37	4	4276342	4276342	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr4:4276342C>T	uc011bvy.2	-	6	727	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	LYAR_uc011bvx.2_Missense_Mutation_p.R78Q|LYAR_uc003ght.3_Missense_Mutation_p.R195Q	NM_001145725	NP_060286	Q9NX58	LYAR_HUMAN	Homo sapiens Ly1 antibody reactive homolog (mouse) (LYAR), transcript variant 2, mRNA.	195	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		tttcttctgccgttcttcctt	0.438000														152			129		0	0	1	0	0
ZNF654	55279	broad.mit.edu	37	3	88190087	88190087	+	Nonsense_Mutation	SNP	A	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr3:88190087A>T	uc003dqv.3	+	0	1826	c.1627A>T	c.(1627-1629)Aga>Tga	p.R543*	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ATCAGTGAAAAGATTAAGATG	0.383000														10			5		0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070213	141070213	+	Silent	SNP	A	G	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr9:141070213A>G	uc010ncq.3	+	3	1293	c.453A>G	c.(451-453)tcA>tcG	p.S151S						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		AGGGCAGCTCAAAATCCAGGA	0.632000														42			3		0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172647961	172647961	+	Splice_Site	SNP	C	G	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:172647961C>G	uc002uhh.2	-	15	1674	c.1585_splice	c.e15+1	p.G529_splice	SLC25A12_uc010fqh.2_Splice_Site_p.G422_splice	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	529					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TTGTAGTTACCTGCCATGGCT	0.353000														68			47		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683030	140683030	+	Nonsense_Mutation	SNP	G	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr5:140683030G>A	uc003ljf.3	-	0	583	c.403C>T	c.(403-405)Cag>Tag	p.Q135*		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	135					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TACATGGTCTGTAGCCGGCAC	0.522000														247			178		0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876904	38876904	+	Missense_Mutation	SNP	G	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:38876904G>T	uc002oij.1	-	2	1133	c.998C>A	c.(997-999)gCc>gAc	p.A333D	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.A250D	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	333	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TAGGGCCCGGGCTTGGGACGC	0.677000														26			18		1.55795e-14	1.60588e-14	1	1	0
SF3B1	23451	broad.mit.edu	37	2	198260814	198260814	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:198260814C>T	uc002uue.3	-	22	3553	c.3505G>A	c.(3505-3507)Gta>Ata	p.V1169I		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	1169					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AACGGTGTTACGGCATAAATG	0.323000			Mis		myelodysplastic syndrome									51			36		0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100829	85100829	+	Missense_Mutation	SNP	C	T	T	rs148950418		TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr16:85100829C>T	uc002fiu.3	+	1	372	c.152C>T	c.(151-153)gCg>gTg	p.A51V	KIAA0513_uc010voj.2_Missense_Mutation_p.A51V|KIAA0513_uc002fit.3_Missense_Mutation_p.A51V	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	51						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACTGAGTCTGCGGACAGTGAG	0.647000														68			27		0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4554500	4554500	+	Missense_Mutation	SNP	C	G	G			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:4554500C>G	uc001qmr.1	-	0	281	c.237G>C	c.(235-237)ttG>ttC	p.L79F		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	79					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TGATCCCCACCAAATAGCCAC	0.657000														103			56		0	0	1	0	0
NDUFS7	374291	broad.mit.edu	37	19	1391140	1391140	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:1391140C>T	uc002lsf.2	+	6	732	c.623C>T	c.(622-624)cCg>cTg	p.P208L	NDUFS7_uc002lsh.3_Missense_Mutation_p.P208L|NDUFS7_uc002lsg.2_Missense_Mutation_p.P151L|NDUFS7_uc002lse.4_Missense_Mutation_p.P144L			O75251	NDUS7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7), nuclear gene encoding mitochondrial protein, mRNA.	144					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	ATGCCGGAGCCGCGCTACGTG	0.687000														22			16		0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4554499	4554499	+	Missense_Mutation	SNP	C	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:4554499C>A	uc001qmr.1	-	0	282	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	80					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTGATCCCCACCAAATAGCCA	0.657000														103			55		4.95785e-36	5.4455e-36	1	1	0
SLC22A23	63027	broad.mit.edu	37	6	3410472	3410472	+	Missense_Mutation	SNP	A	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr6:3410472A>T	uc003mvm.3	-	2	863	c.863T>A	c.(862-864)tTc>tAc	p.F288Y	SLC22A23_uc003mvn.3_Missense_Mutation_p.F7Y|SLC22A23_uc003mvo.3_Missense_Mutation_p.F7Y|SLC22A23_uc003mvp.1_Non-coding_Transcript|SLC22A23_uc010jnn.3_Missense_Mutation_p.F288Y|SLC22A23_uc010jno.2_Missense_Mutation_p.F288Y	NM_015482	NP_068764	A1A5C7	S22AN_HUMAN	Homo sapiens solute carrier family 22, member 23 (SLC22A23), transcript variant 1, mRNA.	288					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TCCTTCAAAGAACCTGAGTGT	0.448000														1			53		0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6886462	6886462	+	Missense_Mutation	SNP	C	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:6886462C>A	uc001qqt.4	+	5	1439	c.1090C>A	c.(1090-1092)Ctg>Atg	p.L364M	LAG3_uc001qqu.3_Missense_Mutation_p.L194M	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	364	Ig-like C2-type 3.					integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTGGATCCCTGGGGAAGCT	0.512000														192			151		3.58661e-63	4.07293e-63	1	1	0
MUC16	94025	broad.mit.edu	37	19	9063328	9063328	+	Missense_Mutation	SNP	T	C	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:9063328T>C	uc002mkp.3	-	2	24322	c.24118A>G	c.(24118-24120)Acc>Gcc	p.T8040A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8042	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						ACTTCAGAGGTGGCCAGTATT	0.458000														31			28		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42191444	42191444	+	Silent	SNP	C	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr22:42191444C>A	uc003baz.1	+	28	3589	c.3564C>A	c.(3562-3564)ctC>ctA	p.L1188L	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.L574L|MEI1_uc003bbc.1_Silent_p.L556L|MEI1_uc010gym.1_Silent_p.L521L|MEI1_uc003bbd.1_Silent_p.L431L|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc003bbg.2_Intron	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	1188							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCAGTGTCCTCTCTCATGAAG	0.542000														99			62		8.3131e-28	8.98351e-28	1	1	0
PLTP	5360	broad.mit.edu	37	20	44534919	44534919	+	Silent	SNP	G	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr20:44534919G>A	uc002xqm.2	-	6	1288	c.753C>T	c.(751-753)gaC>gaT	p.D251D	PLTP_uc002xql.2_Silent_p.D143D|PLTP_uc010zxj.2_Silent_p.D136D|PLTP_uc002xqq.2_Silent_p.D200D|PLTP_uc002xqn.2_Silent_p.D231D|PLTP_uc002xqo.2_Silent_p.D179D	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	231					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GGAAGTCCATGTCCAGGTTGC	0.507000														39			29		0	0	1	0	0
RPL12	6136	broad.mit.edu	37	9	130213582	130213582	+	Silent	SNP	G	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr9:130213582G>A	uc004bqy.2	-	0	130	c.15C>T	c.(13-15)ttC>ttT	p.F5F	RPL12_uc004bqz.2_Silent_p.F5F|SNORA65_uc004bra.1_5'Flank|LRSAM1_uc004brb.2_5'Flank|LRSAM1_uc010mxk.2_5'Flank|LRSAM1_uc004brc.2_5'Flank|LRSAM1_uc004brd.2_5'Flank	NM_000976	NP_000967	P30050	RL12_HUMAN	Homo sapiens ribosomal protein L12 (RPL12), mRNA.	5					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						CGTTGGGGTCGAACTTCGGCG	0.652000														65			47		0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112229114	112229114	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr12:112229114G>A	uc001tst.3	+	6	782	c.686G>A	c.(685-687)gGc>gAc	p.G229D	ALDH2_uc010syi.2_Missense_Mutation_p.G182D	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	229					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	TCACAGGCTGGCTTTCCCCCT	0.582000			T	HMGA2	leiomyoma									32			3		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11066855	11066855	+	Missense_Mutation	SNP	A	C	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr16:11066855A>C	uc021tcy.1	+	6	895	c.665A>C	c.(664-666)aAt>aCt	p.N222T	CLEC16A_uc002dan.4_Missense_Mutation_p.N220T|CLEC16A_uc002dao.3_Missense_Mutation_p.N220T	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	222										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TACTTCTCCAATTTGGTCTGG	0.463000														22			15		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4876021	4876021	+	Missense_Mutation	SNP	G	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr7:4876021G>T	uc003snj.1	-	2	924	c.751C>A	c.(751-753)Ctg>Atg	p.L251M	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwc.1_Missense_Mutation_p.L11M|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	251					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGAAGGAGCAGATGCGGGGAC	0.701000														16			5		5.18039e-06	5.18039e-06	1	1	0
NAV2	89797	broad.mit.edu	37	11	19955397	19955397	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr11:19955397C>T	uc010rdm.2	+	7	2037	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	NAV2_uc001mpp.3_Missense_Mutation_p.S472F|NAV2_uc001mpr.4_Missense_Mutation_p.S536F|NAV2_uc021qew.1_Missense_Mutation_p.S536F	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	559						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCAAAAAAGTCCTCCAAGATT	0.562000														160			114		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17086085	17086086	+	Frame_Shift_Ins	INS	-	C	C			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr1:17086085_17086086insC	uc010ock.2	-	6	811_812	c.811_812insG	c.(811-813)gcgfs	p.A271fs	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GGCAAGGTACGCCGCGGTGGTG	0.649													---	6	---	---	6	---					
KIDINS220	57498	broad.mit.edu	37	2	8871568	8871568	+	Frame_Shift_Del	DEL	T	-	-			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:8871568delT	uc002qzc.2	-	29	4780	c.4598delA	c.(4597-4599)aacfs	p.N1533fs	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.N1434fs|KIDINS220_uc002qzb.2_Frame_Shift_Del_p.N387fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1533					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTGGAGTGTTATCTGATTC	0.478													---	89	---	---	57	---					
BIRC6	57448	broad.mit.edu	37	2	32660618	32660618	+	Frame_Shift_Del	DEL	A	-	-			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:32660618delA	uc010ezu.3	+	13	3598	c.3464delA	c.(3463-3465)gaafs	p.E1155fs		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1155					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATTTGAATGAAGAAATGCAG	0.408													---	4	---	---	2	---					
PER2	8864	broad.mit.edu	37	2	239176835	239176850	+	Splice_Site	DEL	GGACACTGCGGAGAAG	-	-			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr2:239176835_239176850delGGACACTGCGGAGAAG	uc002vyc.3	-	8	1062	c.825_splice	c.e8-1	p.S275_splice	PER2_uc010znv.1_Splice_Site_p.S275_splice|PER2_uc010znw.1_Splice_Site_p.S275_splice|PER2_uc010fyx.1_Splice_Site_p.S275_splice	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	275					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGCTTTTCCGGACACTGCGGAGAAGAGCCACGCTC	0.574													---	95	---	---	35	---					
C6orf195	154386	broad.mit.edu	37	6	2623877	2623877	+	Frame_Shift_Del	DEL	A	-	-			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr6:2623877delA	uc003mtw.2	-	2	1165	c.180delT	c.(178-180)cctfs	p.P60fs	C6orf195_uc021ykp.1_Frame_Shift_Del_p.P60fs	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	60										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CGGACCCGGGAGGGGAGAGGA	0.622													---	313	---	---	7	---					
TRIM15	89870	broad.mit.edu	37	6	30140094	30140094	+	Frame_Shift_Del	DEL	A	-	-			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr6:30140094delA	uc010jrx.3	+	6	1845	c.1366delA	c.(1366-1368)aaafs	p.K456fs		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	456	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TGCCGTCTGGAAAAAAGGTTC	0.637													---	105	---	---	81	---					
PSAT1	29968	broad.mit.edu	37	9	80942983	80942984	+	Frame_Shift_Ins	INS	-	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr9:80942983_80942984insA	uc004ala.3	+	7	954_955	c.886_887insA	c.(886-888)caafs	p.Q296fs	PSAT1_uc004alb.3_Intron	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	296					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	AGTGGAGCCCCAAAATAGAAGC	0.337													---	24	---	---	21	---					
NEDD4	4734	broad.mit.edu	37	15	56216867	56216868	+	Frame_Shift_Ins	INS	-	A	A			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr15:56216867_56216868insA	uc002adl.3	-	4	349_350	c.267_268insT	c.(265-270)tttgaafs	p.F89fs		NM_006154	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 1, mRNA.	1184	Ser-rich.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCAAACACTTCAAAAAGAAGCC	0.371													---	11	---	---	8	---					
SRRM2	23524	broad.mit.edu	37	16	2814808	2814809	+	Frame_Shift_Ins	INS	-	T	T			TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr16:2814808_2814809insT	uc002crk.3	+	10	4828_4829	c.4279_4280insT	c.(4279-4281)atgfs	p.M1427fs	SRRM2_uc002crj.1_Frame_Shift_Ins_p.M1331fs|SRRM2_uc002crl.1_Frame_Shift_Ins_p.M1427fs|SRRM2_uc010bsu.1_Frame_Shift_Ins_p.M1331fs	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1427	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTCTCCTGAAATGAAAGATGGT	0.505													---	218	---	---	150	---					
EEF2	1938	broad.mit.edu	37	19	3983291	3983293	+	Splice_Site	DEL	TGA	-	-	rs111408370		TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr19:3983291_3983293delTGA	uc002lze.3	-	3	302	c.219_splice	c.e3-1	p.T73_splice	SNORD37_uc002lzf.1_5'Flank	NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	73						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGATGGCACTGATGGAGGGAGG	0.586													---	47	---	---	19	---					
PCK1	5105	broad.mit.edu	37	20	56140816	56140817	+	Frame_Shift_Del	DEL	GA	-	-	rs17847705		TCGA-AL-3472-01A-01D-1252-08	TCGA-AL-3472-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f246dd1b-eedd-4105-b80e-77c3cb63a450	a80cc8a1-24ad-41f0-bdad-9c05f2ad4901	g.chr20:56140816_56140817delGA	uc002xyn.4	+	9	1988_1989	c.1825_1826delGA	c.(1825-1827)gagfs	p.E609fs	PCK1_uc010zzm.2_Frame_Shift_Del_p.E292fs	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	609					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGTGAAATCGAGAGAGAGATC	0.470													---	70	---	---	32	---					
