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
NBEAL1	65065	broad.mit.edu	37	2	204055051	204055051	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:204055051A>G	uc002uzt.3	+	44	7106	c.6773A>G	c.(6772-6774)gAa>gGa	p.E2258G	NBEAL1_uc021vvj.1_Missense_Mutation_p.E961G	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2258	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATGAGAAAGAAAGAAAAGCC	0.353000														46			3		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124201729	124201729	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr3:124201729A>T	uc003ehg.3	+	27	4387	c.4260A>T	c.(4258-4260)aaA>aaT	p.K1420N	KALRN_uc010hrv.1_Missense_Mutation_p.K1411N|KALRN_uc003ehf.1_Missense_Mutation_p.K1420N|KALRN_uc011bjy.1_Missense_Mutation_p.K1411N|KALRN_uc003ehh.1_Missense_Mutation_p.K766N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1420	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGATCACCAAATATCAACTGC	0.537000														94			53		0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99852539	99852539	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:99852539C>T	uc003ppo.4	-	8	1270	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	PNISR_uc003ppp.4_Missense_Mutation_p.D348N|PNISR_uc011eag.2_Missense_Mutation_p.D348N	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	348						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCTGTGACATCCAGCAGAATT	0.343000														48			3		0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123596309	123596309	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:123596309A>G	uc001lfp.3	-	9	1263	c.1181T>C	c.(1180-1182)cTt>cCt	p.L394P	ATE1_uc001lfq.3_Missense_Mutation_p.L394P|ATE1_uc010qtr.2_Missense_Mutation_p.L279P|ATE1_uc010qts.2_Missense_Mutation_p.L298P|ATE1_uc010qtt.2_Missense_Mutation_p.L387P|ATE1_uc001lfr.3_Missense_Mutation_p.L95P|ATE1_uc009xzu.3_Non-coding_Transcript	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	394					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TTTCTCATGAAGCTGCCTAGT	0.328000														92			4		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152823628	152823628	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:152823628A>G	uc004fht.1	+	14	2618	c.2492A>G	c.(2491-2493)aAc>aGc	p.N831S	ATP2B3_uc004fhs.1_Missense_Mutation_p.N831S|ATP2B3_uc010nuf.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	831					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCGATGACAACTTCACCAGC	0.572000														142			4		0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2547069	2547069	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:2547069A>G	uc002cql.3	+	1	1060	c.920A>G	c.(919-921)aAt>aGt	p.N307S	TBC1D24_uc002cqk.3_Missense_Mutation_p.N307S|TBC1D24_uc002cqm.3_Missense_Mutation_p.N307S|TBC1D24_uc010bsm.3_5'Flank	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	307					neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CAGATGGCCAATGAGAAAGCC	0.617000														12			6		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	327253	327253	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr19:327253G>T	uc002lok.1	-	4	382	c.373C>A	c.(373-375)Caa>Aaa	p.Q125K		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TTCGCTATTTGTTCCTTTAAA	0.438000														34			5		0.00198382	0.00210051	1	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86542297	86542297	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr7:86542297T>C	uc011kha.2	-	13	2140	c.1955A>G	c.(1954-1956)gAg>gGg	p.E652G	KIAA1324L_uc003uie.3_Missense_Mutation_p.E485G|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E538G|KIAA1324L_uc003uif.2_Missense_Mutation_p.E404G	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	652						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AATACAAGCCTCTTTGCCATA	0.473000														127			4		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36759870	36759870	+	Silent	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:36759870A>G	uc003omr.1	-	7	535	c.468T>C	c.(466-468)ggT>ggC	p.G156G	CPNE5_uc003oms.1_Silent_p.G135G	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	156	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTCCTGGGACACCACTGGGAG	0.567000														26			3		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2186902	2186902	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:2186902A>G	uc001lvq.3	-	11	1308	c.1289T>C	c.(1288-1290)cTc>cCc	p.L430P	TH_uc001lvp.3_Missense_Mutation_p.L426P|TH_uc001lvr.3_Missense_Mutation_p.L399P|TH_uc010qxj.2_Missense_Mutation_p.L403P|TH_uc001lvs.3_Missense_Mutation_p.L305P|TH_uc001lvt.3_Missense_Mutation_p.L309P|TH_uc009ydh.1_Non-coding_Transcript	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	430					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TCTCACCAGGAGCTCCCCGTA	0.662000														99			4		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31848574	31848574	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr6:31848574A>G	uc003nxz.1	-	26	3338	c.3328T>C	c.(3328-3330)Ttc>Ctc	p.F1110L	EHMT2_uc003nxx.1_Missense_Mutation_p.F308L|EHMT2_uc003nxy.1_Missense_Mutation_p.F908L|EHMT2_uc011don.1_Missense_Mutation_p.F1133L|EHMT2_uc003nya.1_Missense_Mutation_p.F1076L|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	1110	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGGTTGATGAAGCGGCTGATG	0.572000														102			4		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216219788	216219788	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:216219788T>C	uc001hku.1	-	31	6697	c.6310A>G	c.(6310-6312)Aac>Gac	p.N2104D		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2104	Fibronectin type-III 7.				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)		ACTATGTAGTTCTCCTCACTG	0.403000										HNSCC(13;0.011)				89			4		0	0	1	0	0
C14orf1	11161	broad.mit.edu	37	14	76118234	76118234	+	Splice_Site	SNP	T	C	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr14:76118234T>C	uc001xrt.3	-	4	677	c.225_splice	c.e4-1	p.T75_splice		NM_007176	NP_009107	Q9UKR5	ERG28_HUMAN	Homo sapiens chromosome 14 open reading frame 1 (C14orf1), mRNA.	75					sterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|transport vesicle				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6		all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163)		BRCA - Breast invasive adenocarcinoma(234;0.00147)		TGATAGAGCCTATAAGGAAGC	0.458000														73			3		0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15718883	15718883	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr16:15718883T>C	uc002ddr.3	-	8	2308	c.2101A>G	c.(2101-2103)Acc>Gcc	p.T701A	KIAA0430_uc002ddq.3_Missense_Mutation_p.T557A|KIAA0430_uc010uzv.2_Missense_Mutation_p.T698A|KIAA0430_uc010uzw.2_Missense_Mutation_p.T700A	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	700						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTCTGACTGGTTTTGTAAACG	0.478000														95			4		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2207667	2207667	+	Silent	SNP	C	T	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr19:2207667C>T	uc002lvb.4	+	10	987	c.951C>T	c.(949-951)atC>atT	p.I317I		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	317						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		TGCACACTATCGACCGCACCA	0.632000														59			31		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77409663	77409663	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:77409663T>C	uc001oyn.3	-	6	2704	c.2584A>G	c.(2584-2586)Agt>Ggt	p.S862G	RSF1_uc001oym.3_Missense_Mutation_p.S610G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	862					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GACCCTTCACTTTCATCATTG	0.418000														229			5		0	0	1	0	0
COPS8	10920	broad.mit.edu	37	2	238004481	238004481	+	Silent	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:238004481A>G	uc002vwh.3	+	5	980	c.456A>G	c.(454-456)ggA>ggG	p.G152G	COPS8_uc010fys.1_Non-coding_Transcript|COPS8_uc002vwg.3_Silent_p.G103G	NM_006710	NP_937832	Q99627	CSN8_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) (COPS8), transcript variant 1, mRNA.	152					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		TAGAACAAGGATGGCAAGCTG	0.423000														130			4		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085780	17085780	+	Silent	SNP	G	A	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:17085780G>A	uc010ock.2	-	7	1041	c.1041C>T	c.(1039-1041)gaC>gaT	p.D347D	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						GCCGCACGTCGTCTGTACAAC	0.692000														31			4		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100377920	100377920	+	Silent	SNP	G	A	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr12:100377920G>A	uc001tge.2	-	0	513	c.96C>T	c.(94-96)ggC>ggT	p.G32G	ANKS1B_uc001tgf.2_5'UTR|ANKS1B_uc009ztt.1_Silent_p.G32G	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	32						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGGATCCACCGCCCAGGATCC	0.572000														45			30		0	0	1	0	0
PDZK1IP1	10158	broad.mit.edu	37	1	47653017	47653017	+	Silent	SNP	G	A	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:47653017G>A	uc001cqw.3	-	1	317	c.150C>T	c.(148-150)gtC>gtT	p.V50V		NM_005764	NP_005755	Q13113	PDZ1I_HUMAN	Homo sapiens PDZK1 interacting protein 1 (PDZK1IP1), mRNA.	50						integral to membrane				endometrium(1)|lung(1)|prostate(1)	3						AGAAGTGGTTGACTGCAAAGG	0.622000														71			3		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9242558	9242558	+	Silent	SNP	C	T	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr12:9242558C>T	uc001qvk.1	-	20	2771	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	A2M_uc009zgk.1_Silent_p.E736E	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	886					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.T885A(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTGAAGGCACCTCAGTCCCAC	0.413000														179			4		0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5548180	5548180	+	Missense_Mutation	SNP	T	A	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr20:5548180T>A	uc002wme.4	-	12	1389	c.1176A>T	c.(1174-1176)ttA>ttT	p.L392F	GPCPD1_uc002wmd.4_Missense_Mutation_p.L211F	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	392	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GAATTTCAAATAATTCAACTG	0.249000														150			10		0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	T	T	rs80035763	byFrequency	TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:43659419G>T	uc001jan.3	+	4	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	362					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.L362F(10)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433000														145			4		0.00909568	0.00909568	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228112294	228112294	+	Silent	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr2:228112294A>G	uc002vom.2	+	7	624	c.462A>G	c.(460-462)ggA>ggG	p.G154G	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	154	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTTTGAAAGGACAAAAGGTAA	0.403000														148			5		0	0	1	0	0
ZFP62	643836	broad.mit.edu	37	5	180276230	180276230	+	Silent	SNP	T	C	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr5:180276230T>C	uc011dhf.2	-	1	2332	c.2265A>G	c.(2263-2265)aaA>aaG	p.K755K	ZFP62_uc011dhe.2_Silent_p.K722K|ZFP62_uc003mmm.4_Intron|ZFP62_uc010jlk.3_Silent_p.K722K|ZFP62_uc021yjo.1_Silent_p.K722K	NM_001172638	NP_001166109	Q8NB50	ZFP62_HUMAN	Homo sapiens zinc finger protein 62 homolog (mouse) (ZFP62), transcript variant 2, mRNA.	755					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACATAGGGTTTCTCCCCTG	0.488000														113			4		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29511428	29511428	+	Silent	SNP	T	C	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr18:29511428T>C	uc002kxc.4	-	1	580	c.216A>G	c.(214-216)gtA>gtG	p.V72V	TRAPPC8_uc002kxb.4_Silent_p.V18V|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Silent_p.V72V|TRAPPC8_uc002kxe.2_Silent_p.V72V	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	72					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAATGTTGCTTACTGCTATCT	0.368000														102			72		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150791421	150791421	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:150791421T>C	uc004fev.4	+	6	763	c.431T>C	c.(430-432)gTc>gCc	p.V144A		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	144						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGTGGTCTTTAGTGGC	0.448000														146			4		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49719943	49719943	+	Silent	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr13:49719943A>G	uc001vcm.3	+	7	1154	c.849A>G	c.(847-849)gtA>gtG	p.V283V	FNDC3A_uc001vcl.1_Silent_p.V283V|FNDC3A_uc001vcn.3_Silent_p.V283V|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Silent_p.V227V|FNDC3A_uc001vcq.3_Silent_p.V227V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	283	Fibronectin type-III 1.					Golgi membrane|integral to membrane		p.V282A(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GGACAGTAGTACTTACCTGGT	0.383000														73			3		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134873005	134873005	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr3:134873005G>A	uc003eqt.3	+	5	1684	c.1309G>A	c.(1309-1311)Gtt>Att	p.V437I	EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	437	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCCCTCCACCGTTCCCATCAT	0.532000														60			44		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113933564	113933564	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr10:113933564G>T	uc009xxy.2	-	6	663	c.453C>A	c.(451-453)aaC>aaA	p.N151K	GPAM_uc001kzp.3_Missense_Mutation_p.N151K|GPAM_uc001kzq.1_Missense_Mutation_p.N151K	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	151					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AACCATCAGGGTTTAATTCAG	0.393000														100			6		1.26484e-09	1.37983e-09	1	1	0
LRP3	4037	broad.mit.edu	37	19	33697008	33697008	+	Silent	SNP	C	T	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr19:33697008C>T	uc010edh.3	+	4	1425	c.1332C>T	c.(1330-1332)ccC>ccT	p.P444P	LRP3_uc010xrp.1_Silent_p.P318P|LRP3_uc002nuk.4_Silent_p.P318P	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	444	LDL-receptor class A 3.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AAAGCTGTCCCGACGGCGCCG	0.662000														42			3		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376364	50376364	+	Silent	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:50376364A>G	uc004dpe.2	-	3	2735	c.2709T>C	c.(2707-2709)taT>taC	p.Y903Y	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Silent_p.Y787Y	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	903	Cys-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCCCAGAACAATAAATGCAAG	0.463000														145			4		0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28365568	28365568	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr3:28365568C>T	uc003ceb.3	-	7	1676	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	AZI2_uc003cec.3_Missense_Mutation_p.D270N	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	Homo sapiens 5-azacytidine induced 2 (AZI2), transcript variant 1, mRNA.	382						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTATGTTGATCCAAGTAATGC	0.393000														118			62		0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228582602	228582602	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:228582602A>G	uc001hss.3	-	5	1466	c.1211T>C	c.(1210-1212)gTg>gCg	p.V404A	TRIM11_uc010pvx.2_Missense_Mutation_p.V403A	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	404	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				AAAGATCCCCACGCGCCTGGG	0.597000														14			25		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23871766	23871766	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr14:23871766C>A	uc001wjv.3	-	11	1119	c.1048G>T	c.(1048-1050)Gtc>Ttc	p.V350F	MYH6_uc010akp.2_Missense_Mutation_p.V350F	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	350	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.G349V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTTGTAGACGCCAGCTTTC	0.612000														78			4		0.00909568	0.00909568	1	1	0
CDK14	5218	broad.mit.edu	37	7	90233538	90233538	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr7:90233538A>G	uc003uky.2	+	1	320	c.98A>G	c.(97-99)aAg>aGg	p.K33R	CDK14_uc003ukt.1_5'UTR|CDK14_uc003ukv.1_5'UTR|CDK14_uc003uku.1_5'UTR|CDK14_uc003ukx.1_Non-coding_Transcript	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	33					G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ATAGCTTTGAAGAAAGATGAC	0.318000														78			4		0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225702514	225702515	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr1:225702514_225702515insG	uc001hpc.1	-	6	1454_1455	c.1001_1002insC	c.(1000-1002)ccafs	p.P334fs	ENAH_uc021pju.1_Frame_Shift_Ins_p.P284fs|ENAH_uc001hpd.1_Frame_Shift_Ins_p.P334fs|ENAH_uc001hpb.1_5'UTR	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	334	Pro-rich.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		gagggggccctgggggaggagg	0.658													---	65	---	---	8	---					
URGCP	55665	broad.mit.edu	37	7	43917145	43917146	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr7:43917145_43917146insC	uc003tiw.3	-	5	1973_1974	c.1916_1917insG	c.(1915-1917)ggcfs	p.G639fs	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Frame_Shift_Ins_p.G596fs|URGCP_uc003tiv.3_Frame_Shift_Ins_p.G564fs|URGCP_uc003tix.3_Frame_Shift_Ins_p.G630fs|URGCP_uc003tiy.3_Frame_Shift_Ins_p.G596fs|URGCP_uc003tiz.3_Frame_Shift_Ins_p.G596fs|URGCP_uc011kbj.2_Frame_Shift_Ins_p.G596fs	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	639					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACGCCTCTGGCCTGCCGGCAG	0.629													---	49	---	---	7	---					
TRIM49B	283116	broad.mit.edu	37	11	49056667	49056667	+	Frame_Shift_Del	DEL	C	-	-			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:49056667delC	uc021qix.1	+	3	759	c.759delC	c.(757-759)cacfs	p.H253fs		NM_001206626	NP_001193555	A6NDI0	TR49B_HUMAN	Homo sapiens tripartite motif-containing protein LOC642612-like (LOC283116), mRNA.	253						intracellular	zinc ion binding			lung(8)	8						ACATATTACACAGGTGAGTGT	0.333													---	712	---	---	7	---					
PPP2R1B	5519	broad.mit.edu	37	11	111637006	111637007	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr11:111637006_111637007insC	uc001plw.1	-	0	163_164	c.79_80insG	c.(79-81)gttfs	p.V27fs	PPP2R1B_uc010rwi.1_Frame_Shift_Ins_p.V27fs|PPP2R1B_uc001plx.1_Frame_Shift_Ins_p.V27fs|PPP2R1B_uc010rwk.1_Frame_Shift_Ins_p.V27fs|PPP2R1B_uc010rwl.1_Frame_Shift_Ins_p.V27fs|PPP2R1B_uc010rwj.1_5'UTR	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	27							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTCGATTAAAACCGCGATCGGG	0.629													---	76	---	---	7	---					
ADAMTS7	11173	broad.mit.edu	37	15	79060504	79060504	+	Frame_Shift_Del	DEL	C	-	-			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr15:79060504delC	uc002bej.4	-	16	2827	c.2616delG	c.(2614-2616)aggfs	p.R872fs	ADAMTS7_uc010und.1_Frame_Shift_Del_p.R448fs	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	872	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGCTGCACTTCCTCTGTTGGT	0.697													---	100	---	---	21	---					
TTC19	54902	broad.mit.edu	37	17	15902989	15902990	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chr17:15902989_15902990insC	uc002gph.2	+	0	296_297	c.190_191insC	c.(190-192)accfs	p.T64fs	ZSWIM7_uc002gpe.3_5'UTR|ZSWIM7_uc002gpf.3_5'UTR|ZSWIM7_uc002gpg.3_5'Flank|TTC19_uc021tqp.1_Non-coding_Transcript	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	Homo sapiens tetratricopeptide repeat domain 19 (TTC19), transcript variant 1, mRNA.	0					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding	p.R66fs*9(1)		central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAGGATCCTGACCCCCCGCCGG	0.733													---	6	---	---	3	---					
USP9X	8239	broad.mit.edu	37	X	41088984	41088985	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KL-8334-01A-11D-2310-10	TCGA-KL-8334-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94434272-4cbd-4b4d-bd98-44f18526dd69	dd7bfe59-20ee-4f8c-8a95-8eb1d0846091	g.chrX:41088984_41088985insA	uc004dfb.3	+	42	8016_8017	c.7383_7384insA	c.(7381-7386)catagtfs	p.H2461fs	USP9X_uc004dfc.3_Frame_Shift_Ins_p.H2461fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	2461					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGAGATCACATAGTGCTAGGAT	0.431													---	47	---	---	82	---					
