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
MYT1L	23040	broad.mit.edu	37	2	1914018	1914018	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:1914018A>G	ENST00000399161.2	-	13	2558	c.1811T>C	c.(1810-1812)gTg>gCg	p.V604A	MYT1L_ENST00000428368.2_Missense_Mutation_p.V602A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	604					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTACCTGAGCACGCGGTCCGA	0.632000													13	23					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888182	34888182	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:34888182C>A	ENST00000360581.1	+	8	1060	c.932C>A	c.(931-933)gCc>gAc	p.A311D	NPSR1_ENST00000359791.1_Missense_Mutation_p.A311D|NPSR1_ENST00000531252.1_Missense_Mutation_p.A300D|NPSR1_ENST00000381542.1_Missense_Mutation_p.A245D|NPSR1_ENST00000381539.3_Missense_Mutation_p.A311D	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	311						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CGTTTCTATGCCTCTGTGATC	0.498000													15	220					3.27435e-08	3.62404e-08	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14105561	14105561	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:14105561T>G	ENST00000235372.7	+	8	2127	c.1271T>G	c.(1270-1272)cTa>cGa	p.L424R	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L223R|PRDM2_ENST00000311066.5_Missense_Mutation_p.L424R|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.L223R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	424						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCCAAACACTACAGCCGTCA	0.522000													7	55					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432371	180432371	+	Silent	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:180432371G>A	ENST00000342868.6	+	8	1084	c.900G>A	c.(898-900)aaG>aaA	p.K300K		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	300	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTCACCCGAAGCTCTGCGTTT	0.532000													25	42					0	0	1	0	0
IL10	3586	broad.mit.edu	37	1	206943190	206943190	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:206943190T>C	ENST00000423557.1	-	4	486	c.428A>G	c.(427-429)aAg>aGg	p.K143R	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	143					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AAAGGCATTCTTCACCTGCTC	0.527000													41	37					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38435297	38435297	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:38435297A>G	ENST00000322350.5	+	16	2571	c.2225A>G	c.(2224-2226)tAt>tGt	p.Y742C	EGFLAM_ENST00000354891.3_Missense_Mutation_p.Y742C|EGFLAM_ENST00000397202.2_Missense_Mutation_p.Y108C|EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y508C	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	742	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTCCCCAATTATGATGATGTG	0.453000													5	63					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108492701	108492701	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:108492701G>A	ENST00000368986.4	+	2	773	c.65G>A	c.(64-66)cGc>cAc	p.R22H	NR2E1_ENST00000368983.3_Missense_Mutation_p.R59H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	22					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGTGGCGACCGCAGCTCGGGG	0.572000													5	117					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85257323	85257323	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr12:85257323A>T	ENST00000266682.5	-	11	2254	c.1713T>A	c.(1711-1713)taT>taA	p.Y571*	SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.Y464*|SLC6A15_ENST00000309283.7_Nonsense_Mutation_p.Y279*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	571					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATTTCCACATATAGTAGTAAT	0.323000													53	82					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1414807	1414807	+	Splice_Site	SNP	G	G	A	rs145114326		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:1414807G>A	ENST00000270349.9	-	8	1282	c.1156_splice	c.e8+1	p.D385_splice	SLC6A3_ENST00000453492.2_Splice_Site_p.D385_splice	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	385					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGGGCTCACCGTCCTTGGCCA	0.607000													8	16					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201303981	201303981	+	Silent	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:201303981A>T	ENST00000409988.3	+	7	1105	c.582A>T	c.(580-582)acA>acT	p.T194T	SPATS2L_ENST00000409755.3_Silent_p.T224T|SPATS2L_ENST00000358677.4_Silent_p.T194T|SPATS2L_ENST00000409718.1_Silent_p.T194T|SPATS2L_ENST00000409385.1_Silent_p.T134T|SPATS2L_ENST00000409140.3_Silent_p.T194T|SPATS2L_ENST00000409151.1_Silent_p.T202T|SPATS2L_ENST00000451764.2_Silent_p.T194T|SPATS2L_ENST00000360760.5_Intron	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	194						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AGGCAAAAACATCTCCTGTTA	0.443000													16	34					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852651	137852651	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:137852651G>T	ENST00000409968.1	+	4	1337	c.1159G>T	c.(1159-1161)Gcc>Tcc	p.A387S	THSD7B_ENST00000272643.3_Missense_Mutation_p.A387S|THSD7B_ENST00000543459.1_Missense_Mutation_p.A246S|THSD7B_ENST00000413152.2_Missense_Mutation_p.A356S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGAGAAAGAGGCCTGCATTGT	0.468000													4	34					1	1	1	1	0
PIK3CD	5293	broad.mit.edu	37	1	9783245	9783245	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:9783245G>A	ENST00000536656.1	+	20	2769	c.2561G>A	c.(2560-2562)cGt>cAt	p.R854H	PIK3CD_ENST00000377346.4_Missense_Mutation_p.R830H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R854H			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	830	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGTACTCCGTTCAGACACC	0.587000													40	97					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101056066	101056066	+	Splice_Site	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:101056066C>A	ENST00000259455.2	-	18	3120		c.e18+1			NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2						negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAGGTACTTACTGTTCTGGAG	0.378000													34	121					4.62619e-21	5.43696e-21	1	1	0
TRIM22	10346	broad.mit.edu	37	11	5729464	5729464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:5729464C>T	ENST00000379965.3	+	6	1112	c.835C>T	c.(835-837)Cga>Tga	p.R279*	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	279					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAGTGTATTCCGAGTACCAGA	0.418000													6	33					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120740100	120740100	+	Silent	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:120740100G>T	ENST00000310396.5	+	7	1337	c.870G>T	c.(868-870)tcG>tcT	p.S290S	CPED1_ENST00000450913.2_Silent_p.S290S|CPED1_ENST00000423795.1_Silent_p.S70S	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.S290S(1)									TCATTCATTCGACGGGCACAG	0.423000													21	68					3.62473e-10	4.09128e-10	1	1	0
DIEXF	27042	broad.mit.edu	37	1	210010488	210010488	+	Missense_Mutation	SNP	C	C	T	rs61740244	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:210010488C>T	ENST00000491415.2	+	6	1051	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	332					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CAATAGCAGACGCCGAAGCCA	0.512000													18	22					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52355772	52355772	+	Silent	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:52355772T>C	ENST00000296585.5	+	11	1385	c.1242T>C	c.(1240-1242)caT>caC	p.H414H		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	414					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGACATCTCATGGCCATTTGA	0.398000													27	40					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38646271	38646271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:38646271C>T	ENST00000379931.3	+	2	590	c.211C>T	c.(211-213)Cga>Tga	p.R71*	TACC1_ENST00000330691.6_Intron|TACC1_ENST00000317827.4_Nonsense_Mutation_p.R71*|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000518415.1_Nonsense_Mutation_p.R26*|TACC1_ENST00000443286.2_Nonsense_Mutation_p.R87*|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Nonsense_Mutation_p.R35*			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	71					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AACCCCGATCCGATCACCTTT	0.463000													8	21					0	0	1	0	0
GPRC6A	0	broad.mit.edu	37	6	117130560	117130560	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:117130560T>C	ENST00000310357.3	-	2	436	c.415A>G	c.(415-417)Aga>Gga	p.R139G	GPRC6A_ENST00000530250.1_Missense_Mutation_p.R139G|GPRC6A_ENST00000368549.3_Missense_Mutation_p.R139G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	139					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCCTTAACTCTTGGCATGTAG	0.448000													6	72					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161479832	161479832	+	Missense_Mutation	SNP	T	T	A	rs141094947		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:161479832T>A	ENST00000271450.6	+	4	625	c.587T>A	c.(586-588)tTc>tAc	p.F196Y	FCGR2A_ENST00000367972.4_Missense_Mutation_p.F195Y|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	196	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TACACGCTGTTCTCATCCAAG	0.527000													4	73					0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71115134	71115134	+	Silent	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:71115134C>A	ENST00000304954.3	+	4	593	c.507C>A	c.(505-507)acC>acA	p.T169T		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	169						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCACGAGCACCCCTGAGACAA	0.448000													13	23					0.00244969	0.00263458	1	1	0
IQSEC2	23096	broad.mit.edu	37	X	53277942	53277942	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:53277942A>G	ENST00000396435.3	-	6	2620	c.2420T>C	c.(2419-2421)cTa>cCa	p.L807P	IQSEC2_ENST00000375365.2_Missense_Mutation_p.L602P|IQSEC2_ENST00000375368.5_Missense_Mutation_p.L797P	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	797	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCGGTTCCCTAGGAATTCCCC	0.592000													23	39					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56565486	56565486	+	Silent	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:56565486C>A	ENST00000323777.3	-	1	259	c.150G>T	c.(148-150)ctG>ctT	p.L50L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	50						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					gcgggcTGAGCAGCTCGGCCT	0.726000													7	12					0.00307968	0.00328115	1	1	0
CORIN	10699	broad.mit.edu	37	4	47605646	47605646	+	Silent	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:47605646G>A	ENST00000273857.4	-	20	2579	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	CORIN_ENST00000505909.1_Silent_p.I823I|CORIN_ENST00000508498.1_Silent_p.I721I|CORIN_ENST00000502252.1_Silent_p.I793I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	860	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTAGATTGTTGATGCCAAGCA	0.428000													14	75					0	0	1	0	0
BCKDHB	594	broad.mit.edu	37	6	81053471	81053471	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:81053471C>G	ENST00000320393.6	+	10	1176	c.1129C>G	c.(1129-1131)Cca>Gca	p.P377A	BCKDHB_ENST00000356489.5_Missense_Mutation_p.P377A|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	377					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATTCTACATCCCAGACAAATG	0.408000													19	76					0	0	1	0	0
IL6R	3570	broad.mit.edu	37	1	154422442	154422442	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:154422442C>T	ENST00000368485.3	+	8	1489	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	IL6R_ENST00000344086.4_Missense_Mutation_p.A351V|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	351					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTGCAAATGCGACAAGCCTC	0.428000													7	68					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20448432	20448432	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:20448432G>A	ENST00000331849.4	+	11	1514	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	456					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R456Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACAGGGGACCGAGCTCGCATG	0.483000													8	131					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53454252	53454252	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:53454252C>T	ENST00000357666.4	-	5	1076	c.776G>A	c.(775-777)tGt>tAt	p.C259Y	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.C259Y|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACATACATCACATTTATATTC	0.368000													39	114					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96799705	96799705	+	Splice_Site	SNP	G	G	A	rs148110898		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:96799705G>A	ENST00000342380.2	-	4	335	c.337_splice	c.e4+1	p.Y112_splice		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	112					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTCACTCACCGTACTTGCTGG	0.582000													3	29					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108780872	108780872	+	Missense_Mutation	SNP	A	A	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:108780872A>C	ENST00000232603.5	-	11	1011	c.929T>G	c.(928-930)gTa>gGa	p.V310G	MORC1_ENST00000483760.1_Missense_Mutation_p.V310G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	310					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACACTGGTTTACTTTGATTTG	0.338000													20	60					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								22	52					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52129289	52129289	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:52129289G>A	ENST00000222107.4	-	8	1598	c.1460C>T	c.(1459-1461)aCc>aTc	p.T487I	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T487I|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T487I|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.T487I|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T487I			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	487					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ACTCACCGAGGTGATGGTACC	0.522000													12	43					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230915	21230915	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:21230915T>C	ENST00000233242.1	-	26	8952	c.8825A>G	c.(8824-8826)cAt>cGt	p.H2942R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2942					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTGATTCATGTGTTCCCTC	0.438000													11	134					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285646	152285646	+	Silent	SNP	T	T	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:152285646T>G	ENST00000368799.1	-	3	1751	c.1716A>C	c.(1714-1716)cgA>cgC	p.R572R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	572	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCATTTCGTGTTTGTC	0.562000									Ichthyosis				5	461					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3806033	3806033	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr12:3806033T>C	ENST00000440314.2	-	4	606	c.133A>G	c.(133-135)Acg>Gcg	p.T45A	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.T45A|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.T45A	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	45					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGGCCCGACGTTTGCTCCTGA	0.592000													3	61					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004030	71004030	+	Missense_Mutation	SNP	T	T	A	rs28483918		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:71004030T>A	ENST00000357250.6	-	5	694	c.536A>T	c.(535-537)cAg>cTg	p.Q179L	COL9A1_ENST00000370496.3_Missense_Mutation_p.Q179L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	179	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTTATGCCACTGGGAATCAAA	0.418000													4	115					0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119187879	119187879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:119187879G>A	ENST00000295588.4	+	1	95	c.11G>A	c.(10-12)tGg>tAg	p.W4*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	4						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ATGGAGTGGTGGGCTAGCTCG	0.711000													3	4					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109228	21109228	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr14:21109228A>G	ENST00000320704.3	-	1	622	c.623T>C	c.(622-624)cTc>cCc	p.L208P		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TACAATGACGAGGGAGGCCAG	0.577000													4	63					0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65425256	65425256	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:65425256C>T	ENST00000204549.4	-	1	918	c.864G>A	c.(862-864)aaG>aaA	p.K288K		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	288					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TCACCCGCTTCTTCTCCTCCA	0.637000													4	24					0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65425262	65425262	+	Missense_Mutation	SNP	C	C	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:65425262C>G	ENST00000204549.4	-	1	912	c.858G>C	c.(856-858)gaG>gaC	p.E286D		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	286					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCTTCTTCTCCTCCACCTCCT	0.652000													4	23					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40681653	40681653	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:40681653C>T	ENST00000302472.3	+	2	1582	c.558C>T	c.(556-558)taC>taT	p.Y186Y	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	186					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCTACTCCTACATGTACGCGG	0.637000													4	48					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84888389	84888389	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:84888389C>T	ENST00000262424.5	+	6	887	c.663C>T	c.(661-663)tgC>tgT	p.C221C	CRISPLD2_ENST00000564567.1_Silent_p.C221C|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Silent_p.C221C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	221						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCTCTGAGTGCCCACCCAGCT	0.532000													4	143					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846020	18846020	+	RNA	SNP	T	T	C	rs1064861		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr22:18846020T>C	ENST00000412938.1	+	0	3378																											TCACTGACGTTGAAGGCTGCC	0.637000													4	37					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039316	11039316	+	RNA	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr21:11039316C>A	ENST00000470054.1	-	0	887									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCTGTCACTTCCATTTTA	0.378000													7	330					2.74318e-10	3.12722e-10	1	1	0
ZNF780B	163131	broad.mit.edu	37	19	40541025	40541025	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:40541025C>T	ENST00000434248.1	-	5	1806	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G581R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTTTCTTTCCGGTATGAATA	0.388000													4	144					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783821	54783821	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:54783821G>C	ENST00000218436.6	-	8	2715	c.2686C>G	c.(2686-2688)Cca>Gca	p.P896A		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	896	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TCAGGAAGTGGGGGCCTTGGT	0.522000													20	69					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35502430	35502430	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:35502430G>A	ENST00000599564.1	+	8	910	c.839G>A	c.(838-840)cGc>cAc	p.R280H	GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R193H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R186H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	193						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCATCTTCCGCCTCTGGCAG	0.617000													4	63					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887104	3887104	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:3887104A>G	ENST00000319331.3	+	2	1540	c.779A>G	c.(778-780)cAa>cGa	p.Q260R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	260						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTTGCCCTGCAAAAAGTTCCA	0.398000													44	60					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217213	26217213	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:26217213G>T	ENST00000303910.2	+	1	49	c.11G>T	c.(10-12)cGt>cTt	p.R4L		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	4					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				ATGTCTGGACGTGGAAAGCAA	0.493000													3	55					1	1	1	1	0
MDFIC	29969	broad.mit.edu	37	7	114619720	114619720	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:114619720C>A	ENST00000257724.3	+	4	967	c.704C>A	c.(703-705)cCt>cAt	p.P235H	MDFIC_ENST00000393486.1_Missense_Mutation_p.P126H			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	126	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CTTTCAGCACCTGTTTCTCAA	0.423000													14	54					9.31168e-06	1.0207e-05	1	1	0
OR51M1	390059	broad.mit.edu	37	11	5411068	5411068	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:5411068T>C	ENST00000328611.3	+	1	462	c.440T>C	c.(439-441)aTt>aCt	p.I147T	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	147						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCGGTCATTATCACTGGC	0.527000													21	123					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228476495	228476495	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:228476495C>T	ENST00000570156.2	+	43	11606	c.11532C>T	c.(11530-11532)tgC>tgT	p.C3844C	OBSCN_ENST00000366707.4_Silent_p.C534C|OBSCN_ENST00000284548.11_Silent_p.C3415C|OBSCN_ENST00000422127.1_Silent_p.C3415C|OBSCN_ENST00000359599.6_Silent_p.C2262C|OBSCN_ENST00000366709.4_Silent_p.C534C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2881	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCTGTGTGCGAGCTGCAGA	0.632000													14	77					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635208	122635208	+	Missense_Mutation	SNP	G	G	T	rs28371576	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:122635208G>T	ENST00000249284.2	-	1	546	c.481C>A	c.(481-483)Cca>Aca	p.P161T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	161					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGTTTCTTGGTAGATGCTCC	0.393000													7	139					0.0293803	0.0301744	1	1	0
MUC16	94025	broad.mit.edu	37	19	9066862	9066862	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:9066862T>G	ENST00000397910.4	-	3	20787	c.20584A>C	c.(20584-20586)Agt>Cgt	p.S6862R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6864	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGAGGTACTGCTCAAATTT	0.493000													17	87					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89403664	89403664	+	Missense_Mutation	SNP	A	A	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:89403664A>C	ENST00000439576.2	+	13	7314	c.6940A>C	c.(6940-6942)Aac>Cac	p.N2314H	ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.N2314H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2314					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGCACTGTAACATAGGTAA	0.617000													6	23					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	62					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179478532	179478532	+	Silent	SNP	T	T	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:179478532T>A	ENST00000367618.3	+	21	2877	c.2490T>A	c.(2488-2490)ctT>ctA	p.L830L		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	830	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGCGGCTACTTGAAGAGGTAT	0.353000													6	35					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474351	78474351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:78474351C>T	ENST00000258873.4	-	8	1236	c.1031G>A	c.(1030-1032)tGg>tAg	p.W344*	ACSBG1_ENST00000541759.1_Nonsense_Mutation_p.W102*|ACSBG1_ENST00000560817.1_Nonsense_Mutation_p.W102*	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	344					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGGGCCCCCCACTGGATGCC	0.627000													15	27					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	35					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21049090	21049090	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:21049090A>G	ENST00000261383.3	-	34	4942	c.4943T>C	c.(4942-4944)cTg>cCg	p.L1648P	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1648P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1648					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)		TACCTGAAACAGAGGGACATC	0.498000													4	20					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38519421	38519421	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:38519421C>T	ENST00000352511.3	+	3	802	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	110					activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		ACTTCTGCAACGAACGCTTCA	0.582000													49	52					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62195645	62195645	+	Silent	SNP	C	C	T	rs45625632	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr20:62195645C>T	ENST00000467148.1	-	8	4599	c.4530G>A	c.(4528-4530)ccG>ccA	p.P1510P	HELZ2_ENST00000427522.2_Silent_p.P941P	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CGTCCTCGTCCGGCTGCTCAT	0.657000													7	9					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47812492	47812492	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr18:47812492C>T	ENST00000285106.6	-	4	1073	c.359G>A	c.(358-360)cGc>cAc	p.R120H	CXXC1_ENST00000412036.2_Missense_Mutation_p.R120H|CXXC1_ENST00000589940.1_Missense_Mutation_p.R120H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	120					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTGCCCGGCGCTGCAGGTC	0.672000													12	74					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539467	111539467	+	Silent	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:111539467C>A	ENST00000354925.2	-	7	2473	c.768G>T	c.(766-768)gcG>gcT	p.A256A	PITX2_ENST00000306732.3_Silent_p.A263A|PITX2_ENST00000355080.5_Silent_p.A210A|PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000394598.2_Silent_p.A256A	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	256					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGTCGGCACCGCGGAATTCA	0.597000													6	28					0.0215528	0.0223365	1	1	0
NME8	51314	broad.mit.edu	37	7	37889884	37889884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:37889884C>T	ENST00000199447.4	+	3	388	c.16C>T	c.(16-18)Cga>Tga	p.R6*	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Nonsense_Mutation_p.R6*	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	6	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.R6*(1)									AAGCAAAAAACGAGAAGTCCA	0.333000													10	181					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46744669	46744669	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:46744669G>C	ENST00000394809.4	-	11	2262	c.2147C>G	c.(2146-2148)aCa>aGa	p.T716R	MYLK3_ENST00000536476.1_Missense_Mutation_p.T375R|MYLK3_ENST00000562104.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	716	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCTGCATCTGTTTCCCCTAG	0.478000													9	109					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100453669	100453669	+	Missense_Mutation	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:100453669A>T	ENST00000370552.3	-	6	1051	c.992T>A	c.(991-993)gTt>gAt	p.V331D	HPSE2_ENST00000370546.1_Missense_Mutation_p.V331D|HPSE2_ENST00000370549.1_Missense_Mutation_p.V273D|HPSE2_ENST00000404542.1_Missense_Mutation_p.V219D	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	331					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTGCCAGGTAACTGCATCTAC	0.343000													23	34					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	2					0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39369942	39369942	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:39369942C>T	ENST00000249396.7	-	16	1324	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	SIRT2_ENST00000392081.2_Silent_p.L304L|SIRT2_ENST00000358931.5_3'UTR	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	341					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CAAGGTCCTCCAGCTCCTTCT	0.637000													3	20					0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958704	57958704	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:57958704G>A	ENST00000311591.3	+	1	799	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCTCACTGCCGTCGCTCTTTT	0.577000													4	83					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97547949	97547949	+	Missense_Mutation	SNP	A	A	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:97547949A>C	ENST00000370192.3	-	22	2944	c.2844T>G	c.(2842-2844)atT>atG	p.I948M		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	948	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTCTTCATCAATCATAGCCA	0.388000													6	102					0	0	1	0	0
C9orf116	138162	broad.mit.edu	37	9	138391685	138391685	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:138391685A>G	ENST00000371789.3	-	1	679	c.13T>C	c.(13-15)Tgc>Cgc	p.C5R	C9orf116_ENST00000371791.1_Missense_Mutation_p.C5R|C9orf116_ENST00000429260.2_Missense_Mutation_p.C5R			Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	5															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GCTCTGGGGCATTCCTCAGCC	0.706000													5	11					0	0	1	0	0
RNF138	51444	broad.mit.edu	37	18	29691839	29691839	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr18:29691839T>C	ENST00000261593.3	+	3	691	c.233T>C	c.(232-234)aTa>aCa	p.I78T	RNF138_ENST00000257190.5_Intron|RNF138_ENST00000585103.1_Intron	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	78					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGAAAATATAATGAGGAAG	0.438000													3	52					0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44851146	44851146	+	Silent	SNP	G	G	C			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:44851146G>C	ENST00000225512.5	-	2	372	c.210C>G	c.(208-210)gcC>gcG	p.A70A		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	70					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCACGCCCTCGGCCACGCTGG	0.652000													7	60					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775141	24775141	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:24775141G>T	ENST00000221166.5	+	3	2555	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N	NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.K215N|NEFM_ENST00000437366.2_Missense_Mutation_p.K591N|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	591	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tggaggaaaagagtgaggaag	0.488000													4	22					0.00909568	0.00951291	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118223155	118223155	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:118223155G>T	ENST00000402510.2	-	11	2037	c.2038C>A	c.(2038-2040)Caa>Aaa	p.Q680K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	680										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCCTCCTCTTGGGTTGTAGAA	0.453000													5	26					3.59834e-05	3.90676e-05	1	1	0
ATRX	546	broad.mit.edu	37	X	76938297	76938297	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:76938297A>T	ENST00000373344.5	-	9	2665	c.2451T>A	c.(2449-2451)taT>taA	p.Y817*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Y779*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	817					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	attctgagtcataattagaag	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						77	110					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928226	178928226	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:178928226C>T	ENST00000263967.3	+	9	1569	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	471	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P471L(6)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAGGAAACTCCATGCTTAGAG	0.368000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	67					0	0	1	0	0
YPEL2	388403	broad.mit.edu	37	17	57465703	57465703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:57465703C>T	ENST00000312655.4	+	3	451	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	YPEL2_ENST00000585166.1_Nonsense_Mutation_p.Q45*|YPEL2_ENST00000581865.1_3'UTR	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	45						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CCAAGGAAGTCAAGGACGAGC	0.433000													17	82					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72970013	72970013	+	Silent	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:72970013A>G	ENST00000262209.4	-	9	1239	c.1032T>C	c.(1030-1032)tcT>tcC	p.S344S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	344						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATATAAGTGGAGAGCGTCCTT	0.353000													18	34					0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16284257	16284257	+	Silent	SNP	G	G	A	rs138083978	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:16284257G>A	ENST00000269878.4	-	1	79	c.30C>T	c.(28-30)caC>caT	p.H10H	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Silent_p.H10H	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	10							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CCAGCTGCTCGTGTGTGAAGA	0.577000													4	100					0	0	1	0	0
PSG1	0	broad.mit.edu	37	19	43382064	43382064	+	Splice_Site	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:43382064C>T	ENST00000244296.2	-	2	568		c.e2+1		PSG1_ENST00000403380.3_Splice_Site|PSG1_ENST00000312439.6_Splice_Site|PSG1_ENST00000595356.1_Splice_Site|PSG1_ENST00000601073.1_Splice_Site|PSG1_ENST00000595124.1_Splice_Site|PSG1_ENST00000436291.2_Splice_Site	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAATCACTTACGGTGTAAGGT	0.517000													5	246					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52539037	52539037	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:52539037A>G	ENST00000321725.6	+	13	1472	c.1396A>G	c.(1396-1398)Aaa>Gaa	p.K466E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	466	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTACAAGTACAAAGACCAGCC	0.587000													4	64					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106185255	106185255	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:106185255T>A	ENST00000355610.4	-	16	2847	c.2573A>T	c.(2572-2574)gAg>gTg	p.E858V	MORC4_ENST00000535534.1_Missense_Mutation_p.E606V|MORC4_ENST00000255495.7_Missense_Mutation_p.E858V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	858							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTTCAGTTTCTCTTTTAACTC	0.458000													9	73					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24542245	24542245	+	Silent	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr14:24542245C>A	ENST00000397016.2	+	3	411	c.100C>A	c.(100-102)Cgg>Agg	p.R34R	CPNE6_ENST00000537691.1_Silent_p.R89R|CPNE6_ENST00000216775.2_Silent_p.R34R|CPNE6_ENST00000560092.1_Intron			O95741	CPNE6_HUMAN	copine VI (neuronal)	34	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCCTGGACCGGGACACACT	0.622000													3	25					0.00909568	0.00951291	1	1	0
DYDC2	84332	broad.mit.edu	37	10	82122275	82122275	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:82122275C>T	ENST00000372199.1	+	4	674	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	DYDC2_ENST00000372197.1_Missense_Mutation_p.P26S|DYDC2_ENST00000256039.2_Missense_Mutation_p.P26S|DYDC2_ENST00000444807.2_Missense_Mutation_p.P26S|DYDC2_ENST00000372198.1_Missense_Mutation_p.P40S			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	26							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAAGGTTCGGCCCAGTGACCC	0.498000													29	32					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81921729	81921729	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:81921729G>A	ENST00000438331.1	-	13	1624	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	ANXA11_ENST00000360615.4_Missense_Mutation_p.A381V|ANXA11_ENST00000535999.1_Missense_Mutation_p.A381V|ANXA11_ENST00000372231.3_Missense_Mutation_p.A381V|ANXA11_ENST00000537102.1_Missense_Mutation_p.A348V|ANXA11_ENST00000265447.4_Missense_Mutation_p.A381V|ANXA11_ENST00000422982.3_Missense_Mutation_p.A381V	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	381					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GCACAGAACCGCATTGAACTT	0.627000											OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	46					0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1498451	1498451	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:1498451G>A	ENST00000382745.4	-	21	2523	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	CLCN7_ENST00000262318.8_Missense_Mutation_p.R616W|CLCN7_ENST00000448525.1_Missense_Mutation_p.R616W	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	640	CBS 1.					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TTCTCACGCCGCCTCAGGCAG	0.647000													9	28					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299773	125299773	+	Silent	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:125299773C>T	ENST00000538699.1	-	2	215	c.135G>A	c.(133-135)ccG>ccA	p.P45P	DCAF12L2_ENST00000360028.2_Silent_p.P45P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	45										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GACGCGTCGCCGGCCGCTTCT	0.731000													13	24					0	0	1	0	0
TMEM134	80194	broad.mit.edu	37	11	67234993	67234993	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:67234993C>T	ENST00000393877.3	-	3	365	c.308G>A	c.(307-309)cGc>cAc	p.R103H	TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000308022.2_Missense_Mutation_p.R103H|TMEM134_ENST00000452789.2_Missense_Mutation_p.R94H	NM_001078650.1	NP_001072118.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	103						integral to membrane				endometrium(1)|lung(1)	2						GTTGTAGGAGCGCTGGGTGCT	0.682000													15	45					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155317506	155317506	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:155317506G>A	ENST00000368346.3	-	20	8398	c.7759C>T	c.(7759-7761)Cgc>Tgc	p.R2587C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2582C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2587					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGATACAGCGAATAACATCG	0.488000													6	91					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95683729	95683729	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:95683729C>A	ENST00000433389.2	+	11	1472	c.1282C>A	c.(1282-1284)Ccc>Acc	p.P428T	ESRP1_ENST00000358397.5_Missense_Mutation_p.P428T|ESRP1_ENST00000454170.2_Missense_Mutation_p.P428T|ESRP1_ENST00000423620.2_Missense_Mutation_p.P428T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	428					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCCAACCCCTCCCATTATTCC	0.478000													18	36					1.22574e-08	1.36994e-08	1	1	0
FLNC	2318	broad.mit.edu	37	7	128493627	128493627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:128493627delC	ENST00000325888.8	+	38	6574	c.6313delC	c.(6313-6315)ccfs	p.P2105fs	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Del_p.P2072fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2105					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCCACCGAGCCCGGCACCTA	0.592													13	40	---	---	---	---					
CHRDL2	25884	broad.mit.edu	37	11	74441896	74441896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:74441896delC	ENST00000376332.3	-	1	534	c.38delG	c.(37-39)gafs	p.G13fs	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Frame_Shift_Del_p.G13fs	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	13					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGCGCGAGTCCCAGCAAGGA	0.662													2	4	---	---	---	---					
TSC22D1	8848	broad.mit.edu	37	13	45150204	45150204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr13:45150204delG	ENST00000458659.2	-	1	497	c.7delC	c.(7-9)agfs	p.Q3fs	TSC22D1_ENST00000501704.2_Frame_Shift_Del_p.Q3fs	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	3					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCAGGCGGCTGGTGCATTGTG	0.627													2	4	---	---	---	---					
ABCC6P1	0	broad.mit.edu	37	16	18593649	18593649	+	RNA	DEL	A	A	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:18593649delA	ENST00000546162.2	+	0	805					NR_003569.1																						ccctgtctcgaaaaaaaaaaa	0.507													7	9	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11058311	11058311	+	RNA	DEL	A	A	-			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr21:11058311delA	ENST00000470054.1	-	0	336									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTGCTTACAAAATGCACAT	0.388													7	247	---	---	---	---