Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
R3HDM2	22864	broad.mit.edu	37	12	57648881	57648881	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr12:57648881A>G	ENST00000402412.1	-	24	3038	c.2648T>C	c.(2647-2649)cTg>cCg	p.L883P	R3HDM2_ENST00000393811.2_Missense_Mutation_p.L596P|R3HDM2_ENST00000358907.2_Missense_Mutation_p.L869P|R3HDM2_ENST00000347140.3_Missense_Mutation_p.L869P|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.L564P|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Missense_Mutation_p.L903P			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	869						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGTCACCTCCAGCACCCGCCC	0.587000													15	64					0	0	0.457914	0	0
FGG	2266	broad.mit.edu	37	4	155533709	155533709	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr4:155533709A>T	ENST00000404648.3	-	1	292	c.53T>A	c.(52-54)tTa>tAa	p.L18*	FGG_ENST00000407946.1_Nonsense_Mutation_p.L18*|FGG_ENST00000405164.1_Nonsense_Mutation_p.L18*|FGG_ENST00000336098.3_Nonsense_Mutation_p.L18*	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	18					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGAGAGAAATAAAAGAGCATA	0.403000													30	84					0	0	0.729181	0	0
MMP27	64066	broad.mit.edu	37	11	102575298	102575298	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:102575298G>A	ENST00000260229.4	-	2	402	c.311C>T	c.(310-312)cCt>cTt	p.P104L		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	104					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TCTCCACCCAGGGAGGGTGTA	0.473000													31	99					0	0	0.740014	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473127	22473127	+	RNA	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:22473127G>T	ENST00000557788.2	-	0	143																											TACTACTGCTGATGGAGCCAC	0.622000													8	98					4.14922e-12	5.73568e-12	0.500413	1	0
SLC6A11	6538	broad.mit.edu	37	3	10980053	10980053	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:10980053A>T	ENST00000254488.2	+	14	1930	c.1864A>T	c.(1864-1866)Atc>Ttc	p.I622F		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	622					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGACGGGACCATCGCAGCCAT	0.547000													20	48					0	0	0.575678	0	0
MSLN	10232	broad.mit.edu	37	16	815130	815130	+	Silent	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:815130G>A	ENST00000566549.1	+	8	948	c.531G>A	c.(529-531)ctG>ctA	p.L177L	MSLN_ENST00000382862.3_Silent_p.L177L|MSLN_ENST00000545450.2_Silent_p.L177L|MSLN_ENST00000563941.1_Silent_p.L177L			Q13421	MSLN_HUMAN	mesothelin	177					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGTCTCTGCTGAGCGAGGCTG	0.701000													26	14					0	0	0.717897	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	34					0	0	0.115264	0	0
KLRG2	346689	broad.mit.edu	37	7	139164916	139164916	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:139164916T>A	ENST00000340940.4	-	2	904	c.835A>T	c.(835-837)Att>Ttt	p.I279F	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	279						integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					AGGACCACAATGACAACCCCA	0.597000													30	49					0	0	0.769981	0	0
KCNQ1	3784	broad.mit.edu	37	11	2606480	2606480	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:2606480G>T	ENST00000155840.5	+	8	1179	c.1071G>T	c.(1069-1071)caG>caT	p.Q357H	KCNQ1_ENST00000335475.5_Missense_Mutation_p.Q230H	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	357					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGGTGCAGCAGAAGCAGAGGC	0.617000													20	111					0.000175454	0.000191776	0.592651	1	0
HSF2BP	11077	broad.mit.edu	37	21	45076580	45076580	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr21:45076580C>A	ENST00000291560.2	-	3	406	c.75G>T	c.(73-75)aaG>aaT	p.K25N	HSF2BP_ENST00000542962.1_Intron	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	25					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CCAGATCCTTCTTTCTGACTT	0.383000													5	165					0.00307968	0.00321655	0.278610	1	0
FAM178A	55719	broad.mit.edu	37	10	102709854	102709854	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:102709854C>T	ENST00000238961.3	+	16	3290	c.3142C>T	c.(3142-3144)Ctt>Ttt	p.L1048F	FAM178A_ENST00000370269.3_Missense_Mutation_p.L1048F	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1048																	ACATCGCTATCTTGTGCAGAT	0.348000													23	96					0	0	0.654019	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133613	91133613	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:91133613G>A	ENST00000373094.1	+	2	3219	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T	PCDH11X_ENST00000395337.2_Missense_Mutation_p.A792T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A792T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A792T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A792T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	792	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGCACTGAAGCACCAGTGAC	0.458000													49	169					0	0	0.870114	0	0
PPEF1	5475	broad.mit.edu	37	X	18822154	18822154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:18822154G>T	ENST00000361511.4	+	14	1704	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000544635.1_Nonsense_Mutation_p.E339*|PPEF1_ENST00000359763.6_Nonsense_Mutation_p.E351*|PPEF1_ENST00000543630.1_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	404	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.E404*(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CAGGTCTCATGAATGTAAGCC	0.418000													18	95					1.01871e-10	1.32999e-10	0.575678	1	0
TMOD3	29766	broad.mit.edu	37	15	52161504	52161504	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:52161504C>A	ENST00000308580.7	+	3	498	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	TMOD3_ENST00000544199.1_Missense_Mutation_p.L73M	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	73						cytoplasm|cytoskeleton	actin binding|tropomyosin binding	p.L73L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		CCTTTCATATCTGGAGAAAGA	0.458000													21	96					5.26018e-13	7.49177e-13	0.608945	1	0
PCDH1	5097	broad.mit.edu	37	5	141248675	141248675	+	Missense_Mutation	SNP	C	C	T	rs145360303		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr5:141248675C>T	ENST00000287008.3	-	2	509	c.362G>A	c.(361-363)cGt>cAt	p.R121H	PCDH1_ENST00000456271.1_Missense_Mutation_p.R121H|PCDH1_ENST00000394536.3_Missense_Mutation_p.R121H|PCDH1_ENST00000536585.1_Missense_Mutation_p.R99H|PCDH1_ENST00000503492.1_Missense_Mutation_p.R121H	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	121	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGCATTCACGGAGCCCCTC	0.592000													16	49					0	0	0.479597	0	0
SETD2	29072	broad.mit.edu	37	3	47164447	47164447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:47164447G>T	ENST00000409792.3	-	3	1721	c.1679C>A	c.(1678-1680)tCa>tAa	p.S560*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TATAGGTTTTGAAAGGGTAGA	0.348000			"""N, F, S, Mis"""		clear cell renal carcinoma								39	102					1.69901e-12	2.38369e-12	0.812448	1	0
PTPRR	5801	broad.mit.edu	37	12	71078029	71078029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr12:71078029C>A	ENST00000283228.2	-	10	1827	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*	PTPRR_ENST00000440835.2_Nonsense_Mutation_p.E214*|PTPRR_ENST00000549308.1_Nonsense_Mutation_p.E214*|PTPRR_ENST00000378778.1_Nonsense_Mutation_p.E253*|PTPRR_ENST00000342084.4_Nonsense_Mutation_p.E347*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	459	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AAGGCTTTCTCCTTGCCACTG	0.443000													16	48					2.23348e-06	2.69163e-06	0.500413	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	59					0	0	0.115264	0	0
HTR1D	3352	broad.mit.edu	37	1	23519762	23519762	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:23519762G>T	ENST00000374619.1	-	1	1460	c.951C>A	c.(949-951)ttC>ttA	p.F317L	HTR1D_ENST00000314113.3_Missense_Mutation_p.F317L	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	317					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACACCACGAAGAAGGGCAGCC	0.552000													5	104					0.00116845	0.00123409	0.217242	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86536993	86536993	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:86536993C>G	ENST00000450689.2	-	18	2736	c.2551G>C	c.(2551-2553)Gtc>Ctc	p.V851L	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V684L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V780L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V611L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	851						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)					TACCTGGGGACTGAAATCACT	0.358000													6	105					0	0	0.248553	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67478511	67478511	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:67478511C>T	ENST00000290949.3	-	3	551	c.401G>A	c.(400-402)aGc>aAc	p.S134N	ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.S57N|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.S175N	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	134					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CTGCTCGAAGCTGCCTAGTGG	0.572000													12	39					0	0	0.387290	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523931	24523931	+	Silent	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr20:24523931G>A	ENST00000376862.3	+	2	831	c.198G>A	c.(196-198)agG>agA	p.R66R		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	66					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACAGCAGCAGGAGTGAGCCGA	0.647000													20	51					0	0	0.624587	0	0
CALD1	800	broad.mit.edu	37	7	134642982	134642982	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:134642982C>A	ENST00000361388.2	+	11	1781	c.1315C>A	c.(1315-1317)Caa>Aaa	p.Q439K	CALD1_ENST00000361901.2_Missense_Mutation_p.Q413K|CALD1_ENST00000543443.1_Missense_Mutation_p.Q418K|CALD1_ENST00000417172.1_Missense_Mutation_p.Q413K|CALD1_ENST00000422748.1_Missense_Mutation_p.Q438K|CALD1_ENST00000495522.1_Missense_Mutation_p.Q432K|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000393118.2_Missense_Mutation_p.Q433K|CALD1_ENST00000361675.2_Missense_Mutation_p.Q668K|CALD1_ENST00000424922.1_Missense_Mutation_p.Q407K	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	668					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATCGACCCATCAAGCAGCAAT	0.398000													9	206					9.70103e-10	1.24917e-09	0.361761	1	0
COMMD7	149951	broad.mit.edu	37	20	31292271	31292271	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr20:31292271A>C	ENST00000446419.1	-	7	1061	c.445T>G	c.(445-447)Ttg>Gtg	p.L149V	COMMD7_ENST00000278980.6_Missense_Mutation_p.L150V	NM_001099339.1	NP_001092809.1	Q86VX2	COMD7_HUMAN	COMM domain containing 7	150	COMM.				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)|endometrium(1)|lung(3)	5						ACTTTCTCCAATTCGCTGCTC	0.373000													6	14					0	0	0.217242	0	0
PLEC	5339	broad.mit.edu	37	8	144991470	144991470	+	Silent	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr8:144991470C>T	ENST00000322810.4	-	32	13099	c.12930G>A	c.(12928-12930)gaG>gaA	p.E4310E	PLEC_ENST00000398774.2_Silent_p.E4141E|PLEC_ENST00000354958.2_Silent_p.E4151E|PLEC_ENST00000436759.2_Silent_p.E4200E|PLEC_ENST00000356346.3_Silent_p.E4159E|PLEC_ENST00000357649.2_Silent_p.E4177E|PLEC_ENST00000345136.3_Silent_p.E4173E|PLEC_ENST00000354589.3_Silent_p.E4173E|PLEC_ENST00000527096.1_Silent_p.E4196E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4310	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCACTCCTGCTCGGACAGCT	0.622000													25	61					0	0	0.639603	0	0
PTPRN	5798	broad.mit.edu	37	2	220162639	220162639	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:220162639C>A	ENST00000295718.2	-	13	2095	c.1855G>T	c.(1855-1857)Ggg>Tgg	p.G619W	PTPRN_ENST00000409251.3_Missense_Mutation_p.G590W|PTPRN_ENST00000423636.2_Missense_Mutation_p.G529W	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	619					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCATGGGCCCCCTCAGGCCCC	0.637000													8	19					5.18039e-06	6.08696e-06	0.278610	1	0
FSIP2	401024	broad.mit.edu	37	2	186673486	186673486	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:186673486G>A	ENST00000343098.5	+	17	19720	c.19720G>A	c.(19720-19722)Gtt>Att	p.V6574I	FSIP2_ENST00000424728.1_Missense_Mutation_p.V6485I	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGCTAGACGTTAATAGAAT	0.323000													5	106					0	0	0.248553	0	0
OR2B11	127623	broad.mit.edu	37	1	247614975	247614975	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:247614975G>T	ENST00000318749.6	-	1	333	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACTGCATATTGCACAGTGCAG	0.597000													39	113					9.85521e-28	1.59722e-27	0.819951	1	0
SYNJ2	8871	broad.mit.edu	37	6	158483043	158483043	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr6:158483043G>T	ENST00000355585.4	+	8	1049	c.974G>T	c.(973-975)tGc>tTc	p.C325F	SYNJ2_ENST00000367122.2_Missense_Mutation_p.C325F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.C325F|SYNJ2_ENST00000449859.2_Intron	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	325	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGGGCTTCTTGCCACGCGGGC	0.562000													14	206					1.36491e-13	1.97387e-13	0.435327	1	0
INTS3	65123	broad.mit.edu	37	1	153723708	153723708	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:153723708G>A	ENST00000456435.1	+	7	1290	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	INTS3_ENST00000435409.2_Missense_Mutation_p.R241Q|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000512605.1_Missense_Mutation_p.R35Q|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Missense_Mutation_p.R241Q			Q68E01	INT3_HUMAN	integrator complex subunit 3	242					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCACTGCTTCGGGAACGGGTG	0.522000													3	64					0	0	0.115264	0	0
OR7D2	162998	broad.mit.edu	37	19	9296949	9296949	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:9296949G>A	ENST00000344248.2	+	1	671	c.492G>A	c.(490-492)atG>atA	p.M164I		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	164					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTCTGATGATGCATCTAATCT	0.453000													47	196					0	0	0.870114	0	0
DNAH3	55567	broad.mit.edu	37	16	20999308	20999308	+	Silent	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:20999308A>G	ENST00000261383.3	-	45	6680	c.6681T>C	c.(6679-6681)atT>atC	p.I2227I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2227	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCAGTCAACAATCGAACTGA	0.443000													15	89					0	0	0.479597	0	0
PDZD4	57595	broad.mit.edu	37	X	153070051	153070051	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:153070051C>T	ENST00000164640.4	-	8	1258	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	PDZD4_ENST00000393758.2_Missense_Mutation_p.R281H|PDZD4_ENST00000544474.1_Missense_Mutation_p.R247H	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	356						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACGGTAGCGCTCATACTC	0.672000													27	45					0	0	0.693898	0	0
CDR1	1038	broad.mit.edu	37	X	139865791	139865791	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:139865791C>G	ENST00000370532.2	-	1	932	c.741G>C	c.(739-741)tgG>tgC	p.W247C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	247										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGGTCTTCCAGTCAATCA	0.423000													59	201					0	0	0.870114	0	0
CELSR1	9620	broad.mit.edu	37	22	46792575	46792575	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr22:46792575G>A	ENST00000262738.3	-	13	5769	c.5770C>T	c.(5770-5772)Cgc>Tgc	p.R1924C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1924	EGF-like 6; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.R1924C(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGGGGGAGCGCACGCAGGCC	0.627000													9	25					0	0	0.307466	0	0
ACE2	59272	broad.mit.edu	37	X	15618974	15618974	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:15618974T>C	ENST00000427411.1	-	2	277	c.61A>G	c.(61-63)Att>Gtt	p.I21V	ACE2_ENST00000252519.3_Missense_Mutation_p.I21V	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	21					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TGTTCCTCAATGGTGGACTGA	0.453000													5	136					0	0	0.184627	0	0
ADAM15	8751	broad.mit.edu	37	1	155026908	155026908	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:155026908G>T	ENST00000356955.2	+	6	639	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	ADAM15_ENST00000360674.4_Missense_Mutation_p.A180S|ADAM15_ENST00000271836.6_Missense_Mutation_p.A180S|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.A180S|ADAM15_ENST00000359280.4_Missense_Mutation_p.A180S|ADAM15_ENST00000368412.3_Missense_Mutation_p.A180S|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000355956.2_Missense_Mutation_p.A180S|ADAM15_ENST00000447332.3_Missense_Mutation_p.A164S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.A190S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	180					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCACACCTGTGCCCTGAGCTG	0.622000													42	133					2.13384e-23	3.34301e-23	0.870114	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													3	25					0	0	0.150653	0	0
NBPF12	149013	broad.mit.edu	37	1	146397414	146397414	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:146397414C>A	ENST00000442909.2	+	6	1067	c.231C>A	c.(229-231)ttC>ttA	p.F77L	NBPF12_ENST00000446760.2_Missense_Mutation_p.F77L|NBPF12_ENST00000309471.8_Intron					neuroblastoma breakpoint family, member 12											ovary(2)	2						AGCGACAGTTCAAGGAGGAGA	0.517000													43	211					2.68985e-26	4.28552e-26	0.870114	1	0
PTAFR	5724	broad.mit.edu	37	1	28477382	28477382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:28477382C>A	ENST00000373857.3	-	2	785	c.151G>T	c.(151-153)Gag>Tag	p.E51*	PTAFR_ENST00000305392.3_Nonsense_Mutation_p.E51*|PTAFR_ENST00000539896.1_Nonsense_Mutation_p.E51*	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	51					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTTTATCTCATTGAATTTC	0.483000													3	28					0.004672	0.00482602	0.115264	1	0
NLRP14	338323	broad.mit.edu	37	11	7064624	7064624	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:7064624A>C	ENST00000299481.4	+	4	1713	c.1367A>C	c.(1366-1368)gAt>gCt	p.D456A		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	456	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACTCAATCTGATGTCTCTAGT	0.418000													25	118					0	0	0.681144	0	0
LACC1	144811	broad.mit.edu	37	13	44456457	44456457	+	Silent	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr13:44456457G>T	ENST00000441843.1	+	3	1184	c.699G>T	c.(697-699)gcG>gcT	p.A233A	LACC1_ENST00000325686.6_Silent_p.A233A	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	233																	GTAGGTTGGCGAATGCTGCAG	0.338000													4	48					1.23904e-05	1.38654e-05	0.184627	1	0
PLEC	5339	broad.mit.edu	37	8	144991469	144991469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr8:144991469G>A	ENST00000322810.4	-	32	13100	c.12931C>T	c.(12931-12933)Cag>Tag	p.Q4311*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q4142*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q4152*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q4201*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q4160*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q4178*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q4174*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q4174*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q4197*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4311	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGCACTCCTGCTCGGACAGC	0.617000													26	61					0	0	0.654019	0	0
TTN	7273	broad.mit.edu	37	2	179433734	179433734	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:179433734C>A	ENST00000589042.1	-	326	77349	c.77125G>T	c.(77125-77127)Gat>Tat	p.D25709Y	TTN_ENST00000342175.6_Missense_Mutation_p.D16836Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23141Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24068Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16644Y|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16769Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24068	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGACATCATCCACAGTT	0.438000													29	137					4.87955e-14	7.16685e-14	0.693898	1	0
AZU1	566	broad.mit.edu	37	19	831827	831827	+	Nonsense_Mutation	SNP	C	C	T	rs112572343		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:831827C>T	ENST00000233997.2	+	5	727	c.706C>T	c.(706-708)Cga>Tga	p.R236*		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	236	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGCGCTCTTCCGAGACTGGAT	0.701000													8	90					0	0	0.335167	0	0
AOC2	314	broad.mit.edu	37	17	41002100	41002100	+	Splice_Site	SNP	A	A	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:41002100A>G	ENST00000253799.3	+	4	2033	c.2004_splice	c.e4-1	p.D669_splice	AOC2_ENST00000452774.2_Splice_Site_p.D642_splice	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	669					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.D669V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTCTTGCAGGATCTGGTGGCT	0.562000													128	92					0	0	0.870114	0	0
FAM103A1	83640	broad.mit.edu	37	15	83657865	83657865	+	Missense_Mutation	SNP	G	G	A	rs150238339		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:83657865G>A	ENST00000304191.3	+	3	316	c.95G>A	c.(94-96)cGc>cAc	p.R32H	C15orf40_ENST00000538348.2_Silent_p.G137G|RP11-382A20.5_ENST00000566841.1_RNA	NM_031452.3	NP_113640.1	Q9BTL3	F103A_HUMAN	family with sequence similarity 103, member A1	32										prostate(1)	1						TACCTGAAACGCCCTCCTGAG	0.428000													7	66					0	0	0.248553	0	0
PSG7	5676	broad.mit.edu	37	19	43439634	43439634	+	RNA	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:43439634C>A	ENST00000406070.2	-	0	448				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GTGTAGGATCCTGTGTCTTCC	0.458000													91	318					3.29526e-42	5.43429e-42	0.870114	1	0
KHK	3795	broad.mit.edu	37	2	27317365	27317365	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:27317365G>A	ENST00000260599.6	+	3	743	c.230G>A	c.(229-231)cGc>cAc	p.R77H	KHK_ENST00000260598.5_Intron|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	77					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGACCTCCGCCGCTATTCT	0.597000													19	79					0	0	0.539581	0	0
HERC1	8925	broad.mit.edu	37	15	63961829	63961829	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:63961829G>T	ENST00000443617.2	-	40	8201	c.8114C>A	c.(8113-8115)tCt>tAt	p.S2705Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2705					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGGTAACGAAGATATTGGAGG	0.458000													14	128					9.31168e-06	1.05458e-05	0.435327	1	0
CXorf22	170063	broad.mit.edu	37	X	35993323	35993323	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:35993323C>A	ENST00000297866.5	+	14	2380	c.2314C>A	c.(2314-2316)Cat>Aat	p.H772N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	772										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCATCTACTTCATGTTATTAA	0.328000													30	134					7.01153e-11	9.28288e-11	0.717897	1	0
ATR	545	broad.mit.edu	37	3	142177883	142177883	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:142177883C>T	ENST00000350721.4	-	44	7541	c.7420G>A	c.(7420-7422)Gga>Aga	p.G2474R	ATR_ENST00000383101.3_Missense_Mutation_p.G2410R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2474	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGACGGTCTCCAAGCCCCAGA	0.373000								Other conserved DNA damage response genes					27	57					0	0	0.681144	0	0
SIRT7	51547	broad.mit.edu	37	17	79875967	79875967	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:79875967G>A	ENST00000328666.6	-	1	103	c.41C>T	c.(40-42)gCg>gTg	p.A14V		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	14	Arg-rich.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GACCCGCTCCGCCGCTTTGCG	0.776000													30	16					0	0	0.760397	0	0
ZNF479	90827	broad.mit.edu	37	7	57188556	57188556	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:57188556T>G	ENST00000331162.4	-	5	836	c.566A>C	c.(565-567)aAa>aCa	p.K189T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTGCCATATTTGTTACATTT	0.299000													10	41					0	0	0.457914	0	0
WASF2	10163	broad.mit.edu	37	1	27745564	27745564	+	Silent	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:27745564T>C	ENST00000430629.2	-	3	371	c.156A>G	c.(154-156)ggA>ggG	p.G52G	WASF2_ENST00000536657.1_Silent_p.G52G	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	52					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TAAAGAGCTCTCCAAAAATGT	0.453000													36	52					0	0	0.812448	0	0
SYNE2	23224	broad.mit.edu	37	14	64445691	64445691	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr14:64445691G>T	ENST00000358025.3	+	14	1758	c.1528G>T	c.(1528-1530)Ggg>Tgg	p.G510W	SYNE2_ENST00000554584.1_Missense_Mutation_p.G510W|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.G510W	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	510					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CATTAAATATGGGAGCAGAGA	0.358000													11	105					2.27111e-07	2.77252e-07	0.411799	1	0
ANKRD27	84079	broad.mit.edu	37	19	33149883	33149883	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:33149883G>T	ENST00000306065.4	-	2	197	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ANKRD27_ENST00000587352.1_Missense_Mutation_p.F13L|ANKRD27_ENST00000586693.2_5'UTR	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	13					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGCCAGATAGAAAGGATTTT	0.498000													4	64					0.150653	0.152273	0.150653	1	0
VWF	7450	broad.mit.edu	37	12	6094833	6094833	+	Splice_Site	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr12:6094833T>C	ENST00000261405.5	-	39	7053		c.e39-2			NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTCCAGGAACTGAGGGCAAAG	0.627000													8	25					0	0	0.307466	0	0
THNSL1	79896	broad.mit.edu	37	10	25313297	25313297	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:25313297C>T	ENST00000524413.1	+	3	1492	c.1145C>T	c.(1144-1146)aCa>aTa	p.T382I	THNSL1_ENST00000376356.4_Missense_Mutation_p.T382I			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	382					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TCAGGAGACACAGGGAGTGCA	0.358000													20	94					0	0	0.608945	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369824	86369824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr13:86369824C>A	ENST00000400286.2	-	2	1418	c.820G>T	c.(820-822)Gaa>Taa	p.E274*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	274						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCATGTTCTTCATACACTGGT	0.393000													30	47					3.73988e-18	5.67015e-18	0.706142	1	0
GP2	2813	broad.mit.edu	37	16	20334206	20334206	+	Missense_Mutation	SNP	C	C	T	rs143098544		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:20334206C>T	ENST00000302555.5	-	4	780	c.631G>A	c.(631-633)Gac>Aac	p.D211N	GP2_ENST00000341642.5_Missense_Mutation_p.D64N|GP2_ENST00000381360.5_Missense_Mutation_p.D67N|GP2_ENST00000381362.4_Missense_Mutation_p.D214N|GP2_ENST00000573897.1_5'UTR			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	214	EGF-like.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTATTGAGGTCCTGTCTGCAG	0.577000													20	105					0	0	0.654019	0	0
NEB	4703	broad.mit.edu	37	2	152471015	152471015	+	Silent	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:152471015G>T	ENST00000397345.3	-	77	11578	c.11376C>A	c.(11374-11376)tcC>tcA	p.S3792S	NEB_ENST00000603639.1_Silent_p.S3792S|NEB_ENST00000604864.1_Silent_p.S3792S|NEB_ENST00000409198.1_Silent_p.S3549S|NEB_ENST00000172853.10_Silent_p.S3549S|NEB_ENST00000427231.2_Silent_p.S3792S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3792					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCACATGGATGGACCACATCA	0.507000													7	261					5.18039e-06	6.08696e-06	0.278610	1	0
ANKRD1	27063	broad.mit.edu	37	10	92679010	92679010	+	Silent	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:92679010G>A	ENST00000371697.3	-	3	471	c.223C>T	c.(223-225)Cta>Tta	p.L75L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	75					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CTTTGTTCTAGTTTTTTCTTT	0.299000													6	17					0	0	0.217242	0	0
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000412819.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697000													7	23					0	0	0.387290	0	0
VPS13A	23230	broad.mit.edu	37	9	79985485	79985485	+	Silent	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr9:79985485C>T	ENST00000360280.3	+	65	9158	c.8898C>T	c.(8896-8898)ggC>ggT	p.G2966G	VPS13A_ENST00000376634.4_Silent_p.G2966G|VPS13A_ENST00000376636.3_Silent_p.G2927G|VPS13A_ENST00000357409.5_Silent_p.G2966G	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2966					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGGAAAAGGCTTAGTTTCTG	0.388000													13	57					0	0	0.500413	0	0
AMER1	139285	broad.mit.edu	37	X	63410669	63410669	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:63410669T>A	ENST00000330258.3	-	2	2770	c.2498A>T	c.(2497-2499)gAt>gTt	p.D833V	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGCTGCAAGATCTTCATCATT	0.522000													13	13					0	0	0.457914	0	0
KIF1B	23095	broad.mit.edu	37	1	10364544	10364544	+	Missense_Mutation	SNP	T	T	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:10364544T>A	ENST00000377093.4	+	21	3454	c.3301T>A	c.(3301-3303)Tgt>Agt	p.C1101S	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.C1101S|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCAGTCTTACTGTAATTATAA	0.502000													27	34					0	0	0.667858	0	0
XRRA1	143570	broad.mit.edu	37	11	74563054	74563054	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:74563054G>T	ENST00000340360.6	-	13	1551	c.1220C>A	c.(1219-1221)cCt>cAt	p.P407H	XRRA1_ENST00000321448.8_Missense_Mutation_p.P132H|XRRA1_ENST00000527087.1_Intron	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	407					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGCCACCAGAGGGTTGTTATG	0.537000													8	99					0.000157383	0.000174047	0.278610	1	0
SYNE1	23345	broad.mit.edu	37	6	152784523	152784523	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr6:152784523C>A	ENST00000367255.5	-	19	2663	c.2062G>T	c.(2062-2064)Ggg>Tgg	p.G688W	SYNE1_ENST00000413186.2_Missense_Mutation_p.G688W|SYNE1_ENST00000448038.1_Missense_Mutation_p.G695W|SYNE1_ENST00000367248.3_Missense_Mutation_p.G678W|SYNE1_ENST00000423061.1_Missense_Mutation_p.G695W|SYNE1_ENST00000495090.2_Missense_Mutation_p.G255W|SYNE1_ENST00000466159.2_Missense_Mutation_p.G688W|SYNE1_ENST00000341594.5_Missense_Mutation_p.G695W|SYNE1_ENST00000367253.4_Missense_Mutation_p.G688W|SYNE1_ENST00000265368.4_Missense_Mutation_p.G688W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	688					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCACCGCCCATTTAGCAAC	0.418000										HNSCC(10;0.0054)			23	34					1.96895e-08	2.5011e-08	0.639603	1	0
PLOD3	8985	broad.mit.edu	37	7	100859716	100859716	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr7:100859716C>A	ENST00000223127.3	-	3	711	c.313G>T	c.(313-315)Gat>Tat	p.D105Y		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	105					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATGATCATATCCTCCCGGTCA	0.572000													19	72					0.00074312	0.000802911	0.539581	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	72					0	0	0.115264	0	0
VAV1	7409	broad.mit.edu	37	19	6853974	6853974	+	Nonsense_Mutation	SNP	T	T	G			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:6853974T>G	ENST00000304076.2	+	25	2377	c.2283T>G	c.(2281-2283)taT>taG	p.Y761*	VAV1_ENST00000602142.1_Nonsense_Mutation_p.Y783*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.Y728*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.Y751*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.Y686*	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	783	SH2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCACAAAGTATTTTGGCACAG	0.527000													31	86					0	0	0.788014	0	0
TTN	7273	broad.mit.edu	37	2	179447818	179447818	+	Silent	SNP	T	T	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr2:179447818T>A	ENST00000589042.1	-	313	65936	c.65712A>T	c.(65710-65712)ctA>ctT	p.L21904L	TTN_ENST00000342175.6_Silent_p.L13031L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.L19336L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L20263L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.L12839L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.L12964L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20263	Fibronectin type-III 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTGGTTTTAGCAGTGTGC	0.458000													4	24					0	0	0.150653	0	0
SETD2	29072	broad.mit.edu	37	3	47163797	47163797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:47163797C>A	ENST00000409792.3	-	3	2371	c.2329G>T	c.(2329-2331)Gaa>Taa	p.E777*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	777					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCAACTGGTTCTTTAACTACT	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma								12	106					5.50884e-06	6.39297e-06	0.411799	1	0
ECE1	1889	broad.mit.edu	37	1	21584023	21584023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:21584023C>A	ENST00000415912.2	-	7	900	c.775G>T	c.(775-777)Gag>Tag	p.E259*	ECE1_ENST00000374893.6_Nonsense_Mutation_p.E275*|ECE1_ENST00000357071.4_Nonsense_Mutation_p.E263*|ECE1_ENST00000264205.6_Nonsense_Mutation_p.E272*|ECE1_ENST00000436918.2_Nonsense_Mutation_p.E275*	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	275					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CTTACCTTCTCGTTTTCAGTT	0.577000													4	42					0.150653	0.152273	0.150653	1	0
MEGF11	84465	broad.mit.edu	37	15	66249960	66249960	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr15:66249960C>A	ENST00000409699.2	-	10	1384	c.1212G>T	c.(1210-1212)caG>caT	p.Q404H	MEGF11_ENST00000360698.4_Missense_Mutation_p.Q404H|MEGF11_ENST00000288745.3_Missense_Mutation_p.Q329H|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.Q404H|MEGF11_ENST00000395625.2_Missense_Mutation_p.Q329H			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	404	EGF-like 7.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAAGGCAGCTGGCAGCCAT	0.617000													22	34					4.54149e-19	6.99835e-19	0.624587	1	0
MMEL1	79258	broad.mit.edu	37	1	2530166	2530166	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:2530166C>A	ENST00000288709.6	-	12	1318	c.1078G>T	c.(1078-1080)Gat>Tat	p.D360Y	MMEL1_ENST00000502556.1_Missense_Mutation_p.D212Y|MMEL1_ENST00000378412.3_Missense_Mutation_p.D369Y	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	369					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACTTCCTCATCTGGCAGCAGC	0.512000													13	33					9.31168e-06	1.05458e-05	0.435327	1	0
TLR8	51311	broad.mit.edu	37	X	12938993	12938993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chrX:12938993G>T	ENST00000218032.6	+	2	1921	c.1834G>T	c.(1834-1836)Gaa>Taa	p.E612*	TLR8_ENST00000311912.5_Nonsense_Mutation_p.E630*	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	612					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTCCCTGGTAGAATTAGTTTT	0.343000													13	171					6.72482e-11	9.03048e-11	0.479597	1	0
BPTF	2186	broad.mit.edu	37	17	65972039	65972039	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:65972039C>A	ENST00000321892.4	+	29	9130	c.9069C>A	c.(9067-9069)ttC>ttA	p.F3023L	BPTF_ENST00000335221.5_Missense_Mutation_p.F2880L|BPTF_ENST00000306378.6_Missense_Mutation_p.F2897L|BPTF_ENST00000424123.3_Missense_Mutation_p.F2741L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	3023					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCGAATCATTCTTTGTACAGA	0.383000													6	168					0.00116845	0.00123409	0.217242	1	0
ABCC8	6833	broad.mit.edu	37	11	17464293	17464293	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:17464293G>A	ENST00000302539.4	-	10	1729	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000389817.3_Missense_Mutation_p.A535V	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	535	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GATGGCAAAGGCCCTGAGGCT	0.602000													26	66					0	0	0.681144	0	0
BCL9L	283149	broad.mit.edu	37	11	118771969	118771969	+	Missense_Mutation	SNP	A	A	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr11:118771969A>T	ENST00000334801.3	-	6	3447	c.2483T>A	c.(2482-2484)gTg>gAg	p.V828E	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	828	Met-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCGCCCATCACGCCACTGCT	0.647000													30	86					0	0	0.750413	0	0
ABCA8	10351	broad.mit.edu	37	17	66878093	66878093	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr17:66878093C>A	ENST00000269080.2	-	29	3874	c.3737G>T	c.(3736-3738)cGc>cTc	p.R1246L	ABCA8_ENST00000430352.2_Missense_Mutation_p.R1286L|ABCA8_ENST00000586539.1_Missense_Mutation_p.R1286L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1246	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATACTCCTTGCGTAGACAGCT	0.408000													22	156					6.21321e-17	9.27051e-17	0.639603	1	0
ZSCAN18	65982	broad.mit.edu	37	19	58596705	58596705	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:58596705C>T	ENST00000240727.6	-	7	1279	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E158K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E294K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E350K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	294					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGGCGGCCTCCTCGCAGGCG	0.736000													4	20					0	0	0.150653	0	0
TACC2	10579	broad.mit.edu	37	10	123987406	123987406	+	Silent	SNP	T	T	C			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:123987406T>C	ENST00000369005.1	+	14	8119	c.7779T>C	c.(7777-7779)caT>caC	p.H2593H	TACC2_ENST00000369001.1_Silent_p.H297H|TACC2_ENST00000358010.1_Silent_p.H739H|TACC2_ENST00000453444.2_Silent_p.H2597H|TACC2_ENST00000368999.1_Silent_p.H683H|TACC2_ENST00000515603.1_Silent_p.H2548H|TACC2_ENST00000513429.1_Silent_p.H739H|TACC2_ENST00000369004.3_Silent_p.H683H|TACC2_ENST00000369000.1_Silent_p.H293H|TACC2_ENST00000260733.3_Silent_p.H671H|TACC2_ENST00000360561.3_Silent_p.H671H|TACC2_ENST00000515273.1_Silent_p.H2597H|TACC2_ENST00000334433.3_Silent_p.H2593H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2593						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAAACCAGCATCCTGTCCCAC	0.532000													32	94					0	0	0.750413	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													3	5	---	---	---	---					
CD2	914	broad.mit.edu	37	1	117307204	117307204	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr1:117307204delA	ENST00000369478.3	+	4	820	c.712delA	c.(712-714)aafs	p.K239fs		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	239					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CACCAAAAGGAAAAAACAGAG	0.493													11	44	---	---	---	---					
NPHP3	27031	broad.mit.edu	37	3	132401619	132401619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:132401619delT	ENST00000337331.5	-	26	3826	c.3740delA	c.(3739-3741)agfs	p.K1247fs	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1247					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCATAAATCTTTAATGCTCT	0.333													30	125	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137886050	137886050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr3:137886050delA	ENST00000260803.4	-	5	740	c.587delT	c.(586-588)tcfs	p.F196fs	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	196						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTCTTGTCGGAAAAAAGATTT	0.373													14	82	---	---	---	---					
BTF3	689	broad.mit.edu	37	5	72801044	72801047	+	Frame_Shift_Del	DEL	CCAA	CCAA	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr5:72801044_72801047delCCAA	ENST00000380591.3	+	6	821_824	c.602_605delCCAA	c.(601-606)tgfs	p.SK201fs	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Frame_Shift_Del_p.SK157fs	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	201					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		GATGAGGCTTCCAAGAATGAGGCA	0.314													25	54	---	---	---	---					
ANKRD26	22852	broad.mit.edu	37	10	27355434	27355434	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:27355434delT	ENST00000376087.4	-	11	1416	c.1251delA	c.(1249-1251)gafs	p.E417fs	ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.E466fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	417						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CCCAAGGTGATTCTATATCTT	0.299													27	58	---	---	---	---					
PRKG1	5592	broad.mit.edu	37	10	54042044	54042044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:54042044delG	ENST00000373980.4	+	14	2094	c.1677delG	c.(1675-1677)ctfs	p.L559fs	PRKG1_ENST00000373975.2_Frame_Shift_Del_p.L262fs|PRKG1_ENST00000401604.2_Frame_Shift_Del_p.L544fs|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Frame_Shift_Del_p.L532fs|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	544	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACTGGTCACTGGGAATCCTAA	0.448													17	66	---	---	---	---					
RRP12	23223	broad.mit.edu	37	10	99130679	99130679	+	Splice_Site	DEL	C	C	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr10:99130679delC	ENST00000370992.4	-	21	2614		c.e21+1		RRP12_ENST00000414986.1_Splice_Site|RRP12_ENST00000536831.1_Splice_Site|RRP12_ENST00000479481.1_Splice_Site|RRP12_ENST00000315563.6_Splice_Site	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)							integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGAGCCCTCACCCTCTTGGCG	0.652													21	52	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													8	468	---	---	---	---					
MAZ	4150	broad.mit.edu	37	16	29821427	29821450	+	In_Frame_Del	DEL	GCAGCGGCAGCGGCGGCAGCGGCA	GCAGCGGCAGCGGCGGCAGCGGCA	-	rs78764184		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr16:29821427_29821450delGCAGCGGCAGCGGCGGCAGCGGCA	ENST00000322945.6	+	5	1474_1497	c.1309_1332delGCAGCGGCAGCGGCGGCAGCGGCA	c.(1309-1332)del	p.AAAAAAAA437del	MAZ_ENST00000545521.1_In_Frame_Del_p.AAAAAAAA414del|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000563402.1_Splice_Site_p.G94_splice|MAZ_ENST00000568282.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000566906.2_Splice_Site_p.G94_splice|MAZ_ENST00000568544.1_In_Frame_Del_p.AAAAAAAA38del|MAZ_ENST00000562337.1_In_Frame_Del_p.AAAAAAAA132del	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	437	Poly-Ala.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AATggcggcggcagcggcagcggcggcagcggcagcagcggcag	0.661													12	106	---	---	---	---					
RAVER1	125950	broad.mit.edu	37	19	10431728	10431728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr19:10431728delG	ENST00000293677.6	-	8	1601	c.1520delC	c.(1519-1521)ctfs	p.P507fs		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	516						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCTTACCCCAGGGGGCGTCGG	0.726													5	11	---	---	---	---					
BIK	638	broad.mit.edu	37	22	43525235	43525252	+	In_Frame_Del	DEL	TGCTGCTGGCGCTGCTGC	TGCTGCTGGCGCTGCTGC	-	rs140238366		TCGA-B4-5835-01A-11D-1669-08	TCGA-B4-5835-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c044e9e-8d38-4f35-823c-82f883ebd03f	ea03bb6c-37c3-4ec4-8798-6f0f6d37e2b9	g.chr22:43525235_43525252delTGCTGCTGGCGCTGCTGC	ENST00000216115.2	+	5	470_487	c.407_424delTGCTGCTGGCGCTGCTGC	c.(406-426)gtg>g	p.VLLALLL136del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	136					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				TGCGAACAGGtgctgctggcgctgctgctgctgctggc	0.711													12	84	---	---	---	---					
