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
TNR	7143	broad.mit.edu	37	1	175336410	175336410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:175336410C>T	uc001gkp.1	-	7	2068	c.1987G>A	c.(1987-1989)Gga>Aga	p.G663R	TNR_uc009wwu.1_Missense_Mutation_p.G663R	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	663	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATTCCAACTCCATACTCAGTG	0.498000														65			7		0	0	0.000157383	0	0
ATP12A	479	broad.mit.edu	37	13	25264842	25264842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr13:25264842C>T	uc010aaa.3	+	6	1115	c.782C>T	c.(781-783)tCc>tTc	p.S261F	ATP12A_uc001upp.3_Missense_Mutation_p.S261F	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	261					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGCTTCTATTCCACAACGTGT	0.547000														180			9		0	0	0.000673444	0	0
FLG2	388698	broad.mit.edu	37	1	152326043	152326043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:152326043C>T	uc001ezw.4	-	2	4292	c.4219G>A	c.(4219-4221)Gga>Aga	p.G1407R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1407							calcium ion binding|structural molecule activity	p.G1407A(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGACTGTCCATGACCAGAG	0.527000														157			10		0	0	0.000978159	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765024	77765024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr8:77765024C>T	uc003yau.2	+	9	6254	c.5867C>T	c.(5866-5868)tCc>tTc	p.S1956F	ZFHX4_uc003yaw.1_Missense_Mutation_p.S1911F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1911	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTGTTTTCCAATGTTCTT	0.393000										HNSCC(33;0.089)				69			7		0	0	0.000442599	0	0
C9orf86	55684	broad.mit.edu	37	9	139734209	139734209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr9:139734209C>T	uc004cjj.1	+	12	2282	c.1825C>T	c.(1825-1827)Ccg>Tcg	p.P609S	C9orf86_uc004cji.1_Missense_Mutation_p.P608S|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Missense_Mutation_p.P493S|C9orf86_uc004cjn.1_Missense_Mutation_p.P402S	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	608					small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		CCCTGCCGAGCCGCCCCCACC	0.652000														36			6		0	0	0.000157383	0	0
C20orf132	140699	broad.mit.edu	37	20	35743589	35743589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr20:35743589G>A	uc010zvu.2	-	19	2613	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	C20orf132_uc002xgk.3_Missense_Mutation_p.S473F	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				ACCAAATAAGGAGAACAGGGT	0.438000														57			7		0	0	8.12818e-05	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488000														46			4		0	0	3.59834e-05	0	0
TTC5	91875	broad.mit.edu	37	14	20763900	20763900	+	Silent	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr14:20763900G>A	uc001vwt.3	-	6	867	c.810C>T	c.(808-810)ttC>ttT	p.F270F	TTC5_uc001vwu.3_Silent_p.F127F	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	270					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ATCTATCCAGGAATTCCAGAA	0.483000														120			6		0	0	8.12818e-05	0	0
MYH6	4624	broad.mit.edu	37	14	23855728	23855728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr14:23855728C>T	uc001wjv.3	-	32	4826	c.4755G>A	c.(4753-4755)atG>atA	p.M1585I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1585					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			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)		TGGCCTGTTCCATCTCCTCGT	0.617000														119			9		0	0	0.000442599	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919327	21919327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr12:21919327C>T	uc001rff.3	-	2	943	c.605G>A	c.(604-606)cGa>cAa	p.R202Q		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	202						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CTTGCCATTTCGGACGGCAAT	0.478000														106			6		0	0	3.59834e-05	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029318	41029318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr6:41029318G>A	uc003opl.3	+	1	530	c.383G>A	c.(382-384)tGt>tAt	p.C128Y	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	128					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCAGCCCCTGTGCAGCGTGT	0.577000														139			14		0	0	0.000566183	0	0
LEP	3952	broad.mit.edu	37	7	127894610	127894610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:127894610G>A	uc003vml.2	+	2	355	c.298G>A	c.(298-300)Gac>Aac	p.D100N	LEP_uc003vmm.2_Missense_Mutation_p.D99N	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	100					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						AATATCCAACGACCTGGAGAA	0.567000														85			6		0	0	8.12818e-05	0	0
ATP2B1	490	broad.mit.edu	37	12	90005120	90005120	+	Silent	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr12:90005120C>T	uc001tbh.3	-	11	2278	c.2097G>A	c.(2095-2097)agG>agA	p.R699R	ATP2B1_uc001tbg.3_Silent_p.R699R|ATP2B1_uc001tbf.3_Silent_p.R369R	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	699					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.Q698Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAATTCCAGCCCTCTGACACT	0.358000														221			9		0	0	0.00010058	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454734	100454734	+	Silent	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:100454734C>T	uc003uwp.3	+	4	835	c.693C>T	c.(691-693)tcC>tcT	p.S231S	SLC12A9_uc003uwo.1_Silent_p.S142S|SLC12A9_uc003uwq.3_Silent_p.S142S|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'UTR|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_5'UTR|SLC12A9_uc003uwv.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	231				S -> A (in Ref. 3; BAB40456).		integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATGGCTCCTCCCTGCCGCCCC	0.642000														91			13		0	0	0.000422831	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619195	64619195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr3:64619195G>A	uc003dmg.3	-	13	2160	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	ADAMTS9_uc011bfo.2_Missense_Mutation_p.P682S|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P539S|ADAMTS9_uc003dmk.1_Missense_Mutation_p.P710S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	710	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCCACAAGGAGTTCCATCT	0.507000														353			18		0	0	0.000175454	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158980374	158980374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr3:158980374G>A	uc003fcq.2	+	3	374	c.193G>A	c.(193-195)Gag>Aag	p.E65K	IQCJ-SCHIP1_uc003fcr.2_Missense_Mutation_p.E38K|IQCJ-SCHIP1_uc003fco.3_Missense_Mutation_p.E65K|IQCJ-SCHIP1_uc003fcp.2_Missense_Mutation_p.E65K|IQCJ-SCHIP1_uc010hvy.2_Missense_Mutation_p.E38K	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GCAGCGGCAGGAGCCCCTGGG	0.537000														73			6		0	0	8.12818e-05	0	0
NME8	51314	broad.mit.edu	37	7	37901707	37901707	+	Silent	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:37901707G>A	uc003tfn.3	+	6	720	c.348G>A	c.(346-348)gaG>gaA	p.E116E		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	116	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TGATCGATGAGGAGAGAAAAA	0.348000														47			8		0	0	0.000442599	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999214	27999214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chrX:27999214C>T	uc004dbx.1	-	0	353	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	80	Glu-rich.							p.E80K(4)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTTTCAAGTTCGACGTCTTCA	0.488000														57			12		0	0	0.000151284	0	0
SORBS3	10174	broad.mit.edu	37	8	22429260	22429260	+	Silent	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr8:22429260C>T	uc003xbv.3	+	18	2113	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	SORBS3_uc003xbw.4_Silent_p.S249S	NM_005775	NP_005766	O60504	VINEX_HUMAN	Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA.	591					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAGCTCTGTCCCACTCTCGAG	0.572000														50			4		0	0	3.59834e-05	0	0
BRD1	23774	broad.mit.edu	37	22	50217210	50217210	+	Silent	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr22:50217210G>A	uc011arg.2	-	0	770	c.756C>T	c.(754-756)ccC>ccT	p.P252P	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Silent_p.P252P|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Silent_p.P252P	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	252					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACTGGCCCTCGGGGATGTAGG	0.637000														14			5		0	0	0.000602214	0	0
CDC25C	995	broad.mit.edu	37	5	137665315	137665315	+	Silent	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr5:137665315G>A	uc003lcs.1	-	2	650	c.450C>T	c.(448-450)ctC>ctT	p.L150L	CDC25C_uc003lcp.1_Silent_p.L72L|CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Silent_p.L72L|CDC25C_uc011cyp.1_Silent_p.L89L|CDC25C_uc010jet.1_Silent_p.L72L|CDC25C_uc003lct.1_Silent_p.L72L|CDC25C_uc003lcu.1_Intron	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	72					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCGAAAGATCGAGGCAACGTT	0.423000														97			7		0	0	0.000442599	0	0
ABCA13	154664	broad.mit.edu	37	7	48556372	48556372	+	Silent	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:48556372G>A	uc003toq.2	+	51	13716	c.13692G>A	c.(13690-13692)tcG>tcA	p.S4564S	ABCA13_uc010kys.1_Silent_p.S1639S|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.S294S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4564					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTCCAGTTCGGACGTGGCTT	0.398000														240			10		0	0	0.000978159	0	0
COL12A1	1303	broad.mit.edu	37	6	75848209	75848209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr6:75848209G>A	uc021zbv.1	-	27	5220	c.5185C>T	c.(5185-5187)Cct>Tct	p.P1729S	COL12A1_uc021zbw.1_Missense_Mutation_p.P565S|COL12A1_uc003phs.3_Missense_Mutation_p.P1729S|COL12A1_uc003pht.3_Missense_Mutation_p.P565S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1729	Fibronectin type-III 12.			P -> A (in Ref. 1; AAC51244).	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GACTCATCAGGATAGATGGCA	0.378000														43			8		0	0	0.000442599	0	0
ITIH5	80760	broad.mit.edu	37	10	7682790	7682790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr10:7682790C>T	uc021pmv.1	-	3	434	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ITIH5_uc001ijr.2_Missense_Mutation_p.E110K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	110	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTGTAATTTCGCCCTGATAC	0.373000														109			8		0	0	0.000442599	0	0
ABCA4	24	broad.mit.edu	37	1	94568628	94568628	+	Silent	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:94568628G>A	uc001dqh.3	-	4	617	c.513C>T	c.(511-513)atC>atT	p.I171I	ABCA4_uc010otn.1_Silent_p.I171I	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	171					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAGACAGGCCGATGTTTTTAA	0.463000														161			11		0	0	0.00010058	0	0
CCR8	1237	broad.mit.edu	37	3	39373990	39373990	+	Silent	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr3:39373990C>T	uc010hhr.2	+	1	306	c.168C>T	c.(166-168)gtC>gtT	p.V56V	CCR8_uc003cjm.2_Intron|CCR8_uc021wwe.1_Silent_p.V56V	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	56					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ACAGCCTGGTCATCCTGGTCC	0.493000														188			12		0	0	0.000151284	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188156	72188156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr16:72188156G>A	uc002fcc.4	-	3	540	c.368C>T	c.(367-369)tCc>tTc	p.S123F	PMFBP1_uc002fcd.3_Missense_Mutation_p.S123F|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	123										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AACCAGGTCGGAAGTCTGCTT	0.443000														108			6		0	0	3.59834e-05	0	0
DNAJC25	548645	broad.mit.edu	37	9	114409479	114409479	+	Silent	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr9:114409479C>T	uc004bfl.3	+	1	485	c.429C>T	c.(427-429)gcC>gcT	p.A143A	DNAJC25_uc004bfn.3_Intron|DNAJC25_uc004bfm.3_Silent_p.A21A	NM_001015882	NP_001015882	Q9H1X3	DJC25_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C , member 25 (DNAJC25), transcript variant 1, mRNA.	143					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						GGCGCTTGGCCCCTAAGGTGG	0.393000														171			10		0	0	0.000151284	0	0
RNF213	57674	broad.mit.edu	37	17	78337016	78337016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr17:78337016C>T	uc002jyh.2	+	40	11760	c.11617C>T	c.(11617-11619)Cgt>Tgt	p.R3873C	RNF213_uc021uen.1_Missense_Mutation_p.R3824C|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTCAGAAGCCGTCTGCAGAA	0.552000														82			5		0	0	8.12818e-05	0	0
KLHL28	54813	broad.mit.edu	37	14	45403424	45403424	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr14:45403424A>C	uc001wvq.3	-	2	1483	c.1237T>G	c.(1237-1239)Tgg>Ggg	p.W413G	KLHL28_uc001wvr.3_Missense_Mutation_p.W413G	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	413										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACAGGTTGCCATTTTCTTATT	0.418000														65			5		0	0	0.000602214	0	0
TSGA13	114960	broad.mit.edu	37	7	130353979	130353979	+	Silent	SNP	G	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:130353979G>T	uc003vqi.3	-	7	1160	c.703C>A	c.(703-705)Cgg>Agg	p.R235R	COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.3_Silent_p.R235R	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	235										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGTGGTTCCCGAATCACTTTG	0.562000														278			16		3.51602e-12	6.27278e-11	0.000132079	1	0
TUFT1	7286	broad.mit.edu	37	1	151553422	151553422	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:151553422T>C	uc010pdf.2	+	12	1214	c.1070T>C	c.(1069-1071)tTa>tCa	p.L357S	TUFT1_uc001eyl.3_Missense_Mutation_p.L338S|TUFT1_uc001eym.3_Missense_Mutation_p.L313S|TUFT1_uc010pdg.2_Missense_Mutation_p.L286S			Q9NNX1	TUFT1_HUMAN	Homo sapiens tuftelin 1 (TUFT1), transcript variant 1, mRNA.	338					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTACAGAATTTAGAGATGCAT	0.512000														47			5		0	0	0.000602214	0	0
TRAF5	7188	broad.mit.edu	37	1	211529807	211529807	+	Silent	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:211529807C>T	uc010psx.2	+	3	460	c.375C>T	c.(373-375)taC>taT	p.Y125Y	TRAF5_uc001hih.3_Silent_p.Y125Y|TRAF5_uc001hii.3_Silent_p.Y125Y|TRAF5_uc010psy.2_Silent_p.Y125Y|TRAF5_uc001hij.3_Silent_p.Y125Y	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	125					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGGCCGGTACCAGGTTGGTA	0.403000														73			6		0	0	3.59834e-05	0	0
ZNF99	7652	broad.mit.edu	37	19	22941513	22941513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr19:22941513C>T	uc021urt.1	-	3	1353	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCACATTCTTCACATTTGTAG	0.378000														49			5		0	0	3.59834e-05	0	0
AKD1	221264	broad.mit.edu	37	6	109867143	109867143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr6:109867143G>A	uc003ptn.2	-	25	3229	c.3152C>T	c.(3151-3153)gCt>gTt	p.A1051V	AKD1_uc011eat.1_Missense_Mutation_p.A130V	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1051					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TTGTTTGGCAGCTTGCTCGTT	0.353000														104			10		0	0	0.000442599	0	0
MYO5C	55930	broad.mit.edu	37	15	52529725	52529725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr15:52529725C>T	uc010bff.3	-	21	2984	c.2822G>A	c.(2821-2823)cGa>cAa	p.R941Q	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	941						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCGTAATTTCGCCTGTGAGT	0.522000														271			10		0	0	0.000673444	0	0
MEP1A	4224	broad.mit.edu	37	6	46761212	46761212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr6:46761212G>A	uc011dwh.1	+	0	85	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	MEP1A_uc010jzh.1_Intron|MEP1A_uc011dwg.1_Intron|MEP1A_uc011dwi.1_5'UTR	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	23				Y -> H (in Ref. 1; AAA21338).	digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCGGTAAGTCGAGTCCTGCTT	0.338000														128			11		0	0	0.00010058	0	0
LHCGR	3973	broad.mit.edu	37	2	48915179	48915179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr2:48915179G>A	uc002rwu.4	-	10	1827	c.1757C>T	c.(1756-1758)tCt>tTt	p.S586F	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	586					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GGCAAAAAAAGAGATAGGTGC	0.383000														81			5		0	0	0.000602214	0	0
MAP6	4135	broad.mit.edu	37	11	75298569	75298569	+	Silent	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr11:75298569C>T	uc001owu.3	-	3	2042	c.1977G>A	c.(1975-1977)aaG>aaA	p.K659K		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	659	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AACCTTGATTCTTTATGGGTG	0.498000														105			9		0	0	0.000442599	0	0
RP1L1	94137	broad.mit.edu	37	8	10469909	10469909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr8:10469909C>T	uc003wtc.3	-	3	1928	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	567					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCGCTGGCCTCCTGCTGAGAG	0.652000														104			7		0	0	0.000157383	0	0
GPR116	221395	broad.mit.edu	37	6	46851855	46851855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr6:46851855C>T	uc003oyo.3	-	4	771	c.482G>A	c.(481-483)gGa>gAa	p.G161E	GPR116_uc003oyp.3_Missense_Mutation_p.G161E|GPR116_uc003oyq.3_Missense_Mutation_p.G161E|GPR116_uc003oyr.2_Missense_Mutation_p.G161E	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	161					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCAAAAAGGTCCATTGGGAGG	0.493000														98			6		0	0	8.12818e-05	0	0
SPNS3	201305	broad.mit.edu	37	17	4352591	4352591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr17:4352591G>A	uc002fxt.3	+	6	876	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	SPNS3_uc002fxu.3_Missense_Mutation_p.G151R	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	278					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TGGAGCCCTGGGGTTCTGGGC	0.657000														47			4		0	0	0.000602214	0	0
BCAP29	55973	broad.mit.edu	37	7	107240940	107240940	+	Silent	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:107240940G>A	uc011kma.1	+	4	593	c.579G>A	c.(577-579)aaG>aaA	p.K193K	BCAP29_uc003vej.2_Silent_p.K193K|BCAP29_uc011kly.1_Silent_p.K99K|SnoU109_uc022ajx.1_5'Flank	NM_001008405	NP_001008405	Q9UHQ4	BAP29_HUMAN	Homo sapiens B-cell receptor-associated protein 29 (BCAP29), transcript variant 1, mRNA.	193					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		p.K193N(2)|p.R192W(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AATTAAGGAAGACTTCAGATG	0.318000														62			5		0	0	0.000602214	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					86			10		0	0	6.4e-05	0	0
CRP	1401	broad.mit.edu	37	1	159683410	159683410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:159683410G>A	uc001ftw.3	-	1	684	c.580C>T	c.(580-582)Ctt>Ttt	p.L194F	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	194	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.Y193H(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGCCCGCCAAGATAGATGGTG	0.537000														97			8		0	0	0.000673444	0	0
COL4A5	1287	broad.mit.edu	37	X	107816837	107816837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chrX:107816837C>T	uc022ccg.1	+	8	701	c.499C>T	c.(499-501)Cca>Tca	p.P167S	COL4A5_uc004enz.1_Missense_Mutation_p.P167S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	167	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTCATCACTGCCAGGACCAAA	0.368000									Alport syndrome with Diffuse Leiomyomatosis					80			8		0	0	0.000673444	0	0
POLR3B	55703	broad.mit.edu	37	12	106838326	106838326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr12:106838326C>T	uc001tlp.3	+	18	2263	c.2041C>T	c.(2041-2043)Ccg>Tcg	p.P681S	POLR3B_uc001tlq.3_Missense_Mutation_p.P623S	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	681					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.P681L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TAACCAGTCACCGAGAAACAC	0.438000														48			7		0	0	8.12818e-05	0	0
EFCAB6	64800	broad.mit.edu	37	22	44067971	44067971	+	Missense_Mutation	SNP	C	G	G	rs145170325		TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr22:44067971C>G	uc003bdy.2	-	14	1836	c.1522G>C	c.(1522-1524)Gct>Cct	p.A508P	EFCAB6_uc003bdz.2_Missense_Mutation_p.A356P|EFCAB6_uc010gzi.2_Missense_Mutation_p.A356P|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	508	EF-hand 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTATAAAAAGCTTGTAGGTTC	0.363000														80			8		0	0	0.000274275	0	0
CASR	846	broad.mit.edu	37	3	122002629	122002629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr3:122002629G>A	uc003eew.4	+	6	2296	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	CASR_uc003eev.4_Missense_Mutation_p.E610K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	610					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTCGTGGACGGAGCCCTTTGG	0.527000														52			5		0	0	0.000602214	0	0
C12orf40	283461	broad.mit.edu	37	12	40076667	40076667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr12:40076667G>A	uc001rmc.3	+	7	1108	c.941G>A	c.(940-942)aGg>aAg	p.R314K	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	314								p.R314R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GATGAGCAAAGGATAAAGAAA	0.333000														56			5		0	0	0.000602214	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42537677	42537677	+	Silent	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr22:42537677C>T	uc003bci.3	-	5	963	c.582G>A	c.(580-582)ggG>ggA	p.G194G	CYP2D7P1_uc003bcg.3_5'UTR|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_Non-coding_Transcript|CYP2D7P1_uc010gyx.1_Silent_p.G194G					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						TCTCAGGGCTCCCCTTGGCCT	0.612000														16			6		0	0	8.12818e-05	0	0
MARK3	4140	broad.mit.edu	37	14	103932348	103932348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr14:103932348C>T	uc001ymz.4	+	8	1483	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	MARK3_uc001ymx.4_Missense_Mutation_p.P273S|MARK3_uc001ymw.4_Missense_Mutation_p.P273S|MARK3_uc001yna.4_Missense_Mutation_p.P273S|MARK3_uc001ymy.4_Missense_Mutation_p.P194S|MARK3_uc010awp.3_Missense_Mutation_p.P296S|MARK3_uc010tyb.2_Missense_Mutation_p.P84S|MARK3_uc021sef.1_Missense_Mutation_p.P84S	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	273	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ATACAGAATTCCCTTCTACAT	0.398000														86			9		0	0	0.000274275	0	0
SLC35F3	148641	broad.mit.edu	37	1	234444858	234444858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:234444858G>A	uc001hvy.1	+	3	765	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	SLC35F3_uc001hwa.1_Missense_Mutation_p.R138Q	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	138					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GAATGCTGTCGATTTTTTGGA	0.383000														62			7		0	0	8.12818e-05	0	0
ATP1A4	480	broad.mit.edu	37	1	160156118	160156118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:160156118G>A	uc001fve.4	+	20	3501	c.3022G>A	c.(3022-3024)Gat>Aat	p.D1008N	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.D511N|ATP1A4_uc001fvh.3_Missense_Mutation_p.D144N	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	1008				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTCTATGATGAAATCAG	0.562000														161			12		0	0	0.00010058	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160392	9160392	+	RNA	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chrY:9160392C>T	uc004frl.1	-	0		c.92G>A								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		GACCATATTTCCCAAACACTG	0.408000														46			6		0	0	0.000274275	0	0
RASD2	23551	broad.mit.edu	37	22	35947611	35947611	+	Silent	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr22:35947611C>T	uc003anx.3	+	2	538	c.333C>T	c.(331-333)cgC>cgT	p.R111R	RASD2_uc003any.3_Silent_p.R111R	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	111					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	p.R111H(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AGGTCAAGCGCCTTCAGAAGC	0.582000														86			7		0	0	0.000157383	0	0
ADAM10	102	broad.mit.edu	37	15	58957325	58957325	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr15:58957325G>A	uc002afd.1	-	4	1000	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	186					Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCAGTCATCTGGTATTTCCTC	0.363000														163			8		0	0	0.000442599	0	0
CACHD1	57685	broad.mit.edu	37	1	65120413	65120413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:65120413C>T	uc001dbo.1	+	11	1661	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	CACHD1_uc001dbp.1_Missense_Mutation_p.S274F|CACHD1_uc001dbq.1_Missense_Mutation_p.S274F	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	570	Cache 1.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGAACTCATCCCTGTCTTGG	0.433000														118			8		0	0	0.000274275	0	0
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr9:20413952delT	uc003zoe.2	-	4	1151	c.892delA	c.(892-894)aggfs	p.R298fs	MLLT3_uc011lne.1_Frame_Shift_Del_p.R266fs|MLLT3_uc011lnf.1_Frame_Shift_Del_p.R295fs|MLLT3_uc003zof.3_Frame_Shift_Del_p.R99fs|MIR4473_uc022bdy.1_5'Flank	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL								---	179	---	---	10	---					
RAPGEF3	10411	broad.mit.edu	37	12	48134465	48134465	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr12:48134465delG	uc001rpz.4	-	20	2741	c.2191delC	c.(2191-2193)cggfs	p.R731fs	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_Frame_Shift_Del_p.R24fs|RAPGEF3_uc001rpx.3_Frame_Shift_Del_p.R146fs|RAPGEF3_uc010sln.2_Frame_Shift_Del_p.R204fs|RAPGEF3_uc001rpy.3_Intron|RAPGEF3_uc009zkp.3_Frame_Shift_Del_p.R689fs|RAPGEF3_uc009zkq.3_Frame_Shift_Del_p.R689fs	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	689					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGCTGGGCCCGGGGGCCGGGC	0.652													---	41	---	---	7	---					
