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
DIDO1	11083	broad.mit.edu	37	20	61512799	61512799	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:61512799C>T	ENST00000266070.4	-	16	4834	c.4509G>A	c.(4507-4509)caG>caA	p.Q1503Q	DIDO1_ENST00000395343.1_Silent_p.Q1503Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1503					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGCGGCCCTCTGCTGCCTGA	0.587000													67	142					0	0	1	0	0
NDUFA3	4696	broad.mit.edu	37	19	54611778	54611778	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:54611778C>G	ENST00000391764.3	+	4	205	c.195C>G	c.(193-195)ctC>ctG	p.L65L	TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391759.1_Intron			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	66					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	GGATAGAGCTCAGCTCCCACT	0.597000													4	51					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936059	94936059	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:94936059G>C	ENST00000337425.5	-	2	247	c.173C>G	c.(172-174)cCt>cGt	p.P58R	SERPINA9_ENST00000380365.3_Missense_Mutation_p.P40R|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000298845.7_Missense_Mutation_p.P58R	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	40					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTGTGAGGCAGGGGTGCTCTT	0.577000													10	73					0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17833794	17833794	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:17833794C>T	ENST00000428135.3	-	26	2947	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000409389.1_3'UTR	NM_015132.4	NP_055947.1	Q9Y5W8	SNX13_HUMAN	sorting nexin 13	928					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AATAAGGTTTCTAAAAAGCCT	0.358000													8	9					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44470975	44470975	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:44470975C>G	ENST00000251269.5	+	6	1649	c.1321C>G	c.(1321-1323)Cag>Gag	p.Q441E	ZNF221_ENST00000592350.1_Missense_Mutation_p.Q441E|ZNF221_ENST00000587682.1_Missense_Mutation_p.Q441E	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATCTTCCCATCAGAGATCCCA	0.433000													9	87					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90296407	90296407	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:90296407G>A	ENST00000469640.2	+	20	2465	c.2090G>A	c.(2089-2091)gGa>gAa	p.G697E	DAPK1_ENST00000358077.5_Missense_Mutation_p.G697E|DAPK1_ENST00000491893.1_Missense_Mutation_p.G697E|DAPK1_ENST00000408954.3_Missense_Mutation_p.G697E|DAPK1_ENST00000472284.1_Missense_Mutation_p.G697E			P53355	DAPK1_HUMAN	death-associated protein kinase 1	697					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGCCACTCGGGATCCGGGAAA	0.552000									Chronic Lymphocytic Leukemia, Familial Clustering of				77	75					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65702611	65702611	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:65702611C>T	ENST00000352385.2	-	3	677	c.468G>A	c.(466-468)gaG>gaA	p.E156E		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	156	Ig-like C2-type 2.					integral to membrane|plasma membrane		p.E156D(1)|p.E156E(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTGTCCCGTTCTCCTCCACCG	0.577000													3	59					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568878	5568878	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:5568878C>G	ENST00000331789.5	-	3	468	c.277G>C	c.(277-279)Gag>Cag	p.E93Q		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	93					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ACACGCAGCTCATTGTAGAAG	0.617000													5	94					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855876	31855876	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:31855876G>C	ENST00000395728.3	-	12	1857	c.1858C>G	c.(1858-1860)Cct>Gct	p.P620A	EHMT2_ENST00000375530.4_Missense_Mutation_p.P529A|EHMT2_ENST00000375537.4_Missense_Mutation_p.P563A|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P586A			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	563					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGGGTGCAGGAGCTGCAGTG	0.652000													3	22					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148484180	148484180	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:148484180G>A	ENST00000325222.4	+	13	1726	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	CUL1_ENST00000602748.1_Missense_Mutation_p.D483N|CUL1_ENST00000409469.1_Missense_Mutation_p.D483N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	483					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.D483N(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGCAAGTGACGATGCCGAAGC	0.448000													47	41					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151949650	151949650	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:151949650G>T	ENST00000355193.2	-	10	1668	c.1450C>A	c.(1450-1452)Cat>Aat	p.H484N	KMT2C_ENST00000262189.6_Missense_Mutation_p.H484N					lysine (K)-specific methyltransferase 2C																		ATATTACAATGAAGCATGTCT	0.368000													28	33					6.02846e-25	6.4602e-25	1	1	0
TAS2R9	50835	broad.mit.edu	37	12	10962188	10962188	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:10962188C>G	ENST00000240691.2	-	1	579	c.487G>C	c.(487-489)Gaa>Caa	p.E163Q		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	163					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTAATGTTTTCTTCATGACTG	0.378000													8	61					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4639192	4639192	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:4639192C>G	ENST00000261250.3	-	4	436	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	C12orf4_ENST00000545746.1_Missense_Mutation_p.E117Q	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	117										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CTGGGTTCTTCAGGCCTTGCA	0.343000													6	96					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169108570	169108570	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:169108570T>C	ENST00000359299.3	+	12	1146	c.960T>C	c.(958-960)gaT>gaC	p.D320D		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	320							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GTGCTGGTGATGCTGAGGACT	0.343000													32	42					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34181459	34181459	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:34181459G>C	ENST00000435224.2	-	13	3024	c.2600C>G	c.(2599-2601)tCt>tGt	p.S867C	ABTB2_ENST00000298992.2_Missense_Mutation_p.S681C	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	681							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTACCTGTTAGAAGCTGTCAC	0.488000													27	22					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22807046	22807046	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:22807046G>A	ENST00000361524.3	-	4	984	c.836C>T	c.(835-837)gCg>gTg	p.A279V	ZNF521_ENST00000538137.2_Missense_Mutation_p.A279V|ZNF521_ENST00000584787.1_Missense_Mutation_p.A59V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	279					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGGAGGGCCGCTCGGTCCTC	0.557000			T	PAX5	ALL								3	55					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2578034	2578034	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:2578034G>C	ENST00000261597.4	+	5	552	c.370G>C	c.(370-372)Gac>Cac	p.D124H		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	124	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CTCTGTTAAAGACTTCCTGAA	0.368000													8	246					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31890295	31890295	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:31890295C>T	ENST00000396184.3	-	9	1015	c.811G>A	c.(811-813)Gag>Aag	p.E271K	PDE1C_ENST00000396191.1_Missense_Mutation_p.E271K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E271K|PDE1C_ENST00000321453.7_Missense_Mutation_p.E271K|PDE1C_ENST00000396193.1_Missense_Mutation_p.E331K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	271	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E271Q(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCGGTATGCTCGTAGTCATGG	0.443000													11	156					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		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.E545K(881)|p.E545Q(18)		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)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			30	50					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45805792	45805792	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:45805792C>T	ENST00000262891.4	+	17	2414	c.2083C>T	c.(2083-2085)Ctg>Ttg	p.L695L	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	695					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACAGCCGTTCCTGCTGGCCTG	0.726000													4	6					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104518	184104518	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:184104518C>T	ENST00000204604.1	+	16	2417	c.2171C>T	c.(2170-2172)cCg>cTg	p.P724L	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.P724L|CHRD_ENST00000348986.3_Missense_Mutation_p.P684L|CHRD_ENST00000545352.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	724	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACTACGACCCGCTCTGCTCA	0.672000													12	16					0	0	1	0	0
NAAA	27163	broad.mit.edu	37	4	76862017	76862017	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:76862017G>A	ENST00000286733.4	-	1	187	c.86C>T	c.(85-87)tCg>tTg	p.S29L	NAAA_ENST00000507956.1_Missense_Mutation_p.S29L|NAAA_ENST00000507187.2_Missense_Mutation_p.S29L|NAAA_ENST00000399497.3_Missense_Mutation_p.S29L	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	29					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TGCTGGGGGCGAGGCGGCTGA	0.756000													10	6					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39104929	39104929	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:39104929G>A	ENST00000216044.5	+	2	505	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	91			G -> R (in dbSNP:rs11547402).		immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GAGGGATGCGGAGAGACCATA	0.502000													41	16					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86900922	86900922	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:86900922G>T	ENST00000376238.4	-	13	1434	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y	SLC28A3_ENST00000537648.1_Missense_Mutation_p.S393Y|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	462					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATTCATAAAAGACAGCAGGGC	0.498000													18	31					5.35356e-11	5.64709e-11	1	1	0
PRKACB	5567	broad.mit.edu	37	1	84668421	84668421	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:84668421C>T	ENST00000370689.2	+	8	962	c.698C>T	c.(697-699)gCa>gTa	p.A233V	PRKACB_ENST00000394838.2_Missense_Mutation_p.A240V|PRKACB_ENST00000370682.3_Missense_Mutation_p.A237V|PRKACB_ENST00000370688.3_Missense_Mutation_p.A233V|PRKACB_ENST00000370685.3_Missense_Mutation_p.A280V|PRKACB_ENST00000370680.1_Missense_Mutation_p.A239V|PRKACB_ENST00000394839.2_Missense_Mutation_p.A203V	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	233	Protein kinase.			A -> V (in Ref. 3; CAI56774).	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TATGAAATGGCAGCTGGCTAT	0.373000													15	193					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149590	129149590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:129149590C>T	ENST00000540052.1	+	3	2886	c.2842C>T	c.(2842-2844)Cag>Tag	p.Q948*	BCORL1_ENST00000218147.7_Nonsense_Mutation_p.Q948*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.Q948*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.Q948*	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	948					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCGAATGAATCAGGGGCCTGA	0.567000													8	49					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59011880	59011880	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:59011880C>T	ENST00000263093.2	-	5	1485	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	SLC27A5_ENST00000601355.1_Splice_Site_p.R375Q	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	459					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACACTCACTCGGAGGAGGCA	0.607000													4	31					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103358578	103358578	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:103358578C>T	ENST00000520539.1	-	7	1228	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	UBR5_ENST00000521922.1_Missense_Mutation_p.E208K|UBR5_ENST00000220959.4_Missense_Mutation_p.E208K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	208					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTCTGAAGTTCTCGAATAATG	0.353000													46	90					0	0	1	0	0
KCNIP3	30818	broad.mit.edu	37	2	96048223	96048223	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:96048223C>T	ENST00000295225.5	+	7	789	c.654C>T	c.(652-654)ttC>ttT	p.F218F	KCNIP3_ENST00000468529.1_Silent_p.F192F|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Silent_p.F196F	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	218	EF-hand 4.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGGAGAGGTTCTTCGAGGTGA	0.657000													25	24					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38177730	38177730	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:38177730G>A	ENST00000407257.1	+	1	156	c.9G>A	c.(7-9)aaG>aaA	p.K3K	RMDN2_ENST00000402091.3_Silent_p.K3K|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Silent_p.K3K|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Silent_p.K3K|RMDN2_ENST00000406384.1_Intron					regulator of microtubule dynamics 2																		CAATGGGAAAGTGCTTAAGGT	0.378000													128	15					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44067367	44067367	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:44067367C>A	ENST00000344290.5	+	8	1628	c.1306C>A	c.(1306-1308)Cct>Act	p.P436T	MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P436T|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.P436T|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.P436T	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	436					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CCCAGAGCCACCTTCCTCTCC	0.512000													126	151					3.65926e-66	4.02818e-66	1	1	0
ZCCHC3	85364	broad.mit.edu	37	20	279302	279302	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:279302G>A	ENST00000382352.3	+	1	1566	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	359							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGTGCGGGGAGGAGGGGCA	0.607000													54	77					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121485651	121485651	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:121485651C>G	ENST00000260197.7	+	41	5620	c.5491C>G	c.(5491-5493)Ctg>Gtg	p.L1831V	SORL1_ENST00000525532.1_Missense_Mutation_p.L775V|SORL1_ENST00000532694.1_Missense_Mutation_p.L677V|SORL1_ENST00000527934.1_Missense_Mutation_p.L446V|SORL1_ENST00000534286.1_Missense_Mutation_p.L741V	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1831	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.L1831V(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGATAGCCCTCTGGCATTTGA	0.527000													14	180					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21086979	21086979	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:21086979G>A	ENST00000395511.3	+	4	702	c.382G>A	c.(382-384)Gag>Aag	p.E128K	DHRS7B_ENST00000579303.1_Missense_Mutation_p.E113K	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	128						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						AGCAGCAGCTGAGATCCTGCA	0.498000													27	37					0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770489	152770489	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:152770489G>A	ENST00000326233.6	+	2	262	c.219G>A	c.(217-219)ctG>ctA	p.L73L		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	73	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGCCTGAGCCACCACA	0.711000													8	22					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83704469	83704469	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:83704469C>T	ENST00000566620.1	+	9	1466	c.1176C>T	c.(1174-1176)acC>acT	p.T392T	CDH13_ENST00000268613.10_Silent_p.T439T|CDH13_ENST00000428848.3_Silent_p.T353T	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	392	Cadherin 3.			T -> A (in Ref. 4; AAH28624/AAH30653).	adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ATGACCCCACCACAGGTGCAT	0.498000													47	6					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47699430	47699430	+	Splice_Site	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:47699430C>A	ENST00000393331.3	-	5	549		c.e5-1		SPOP_ENST00000503676.1_Splice_Site|SPOP_ENST00000513080.1_Splice_Site|SPOP_ENST00000504102.1_Splice_Site|SPOP_ENST00000347630.2_Splice_Site|SPOP_ENST00000393328.2_Splice_Site	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein						mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTACCTTGATCTGTTGATAGA	0.398000										Prostate(2;0.17)			14	21					5.03518e-11	5.32517e-11	1	1	0
PLIN4	729359	broad.mit.edu	37	19	4511893	4511893	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:4511893C>G	ENST00000301286.3	-	3	2036	c.2037G>C	c.(2035-2037)ctG>ctC	p.L679L		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	679	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGTGCCGGTCAGCACGGTCT	0.577000													11	252					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12367072	12367072	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:12367072G>C	ENST00000269143.3	-	5	675	c.444C>G	c.(442-444)ctC>ctG	p.L148L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	148					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GAGCAGTCCAGAGGAAGAACA	0.453000													11	192					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96246297	96246297	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:96246297T>C	ENST00000347108.3	-	14	2013	c.1581A>G	c.(1579-1581)ttA>ttG	p.L527L	DZIP1_ENST00000361396.2_Silent_p.L508L|DZIP1_ENST00000361156.3_Silent_p.L508L|DZIP1_ENST00000376829.2_Silent_p.L527L			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	527					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AAGCTTTCCTTAAATGCATTT	0.333000													34	66					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160840459	160840459	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:160840459G>C	ENST00000283243.7	-	13	2369	c.2163C>G	c.(2161-2163)ctC>ctG	p.L721L	PLA2R1_ENST00000392771.1_Silent_p.L721L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	721	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTGAATGTAAGAGCTCATTCA	0.353000													4	63					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201351425	201351425	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:201351425C>G	ENST00000391967.2	-	9	1804	c.1503G>C	c.(1501-1503)gaG>gaC	p.E501D	LAD1_ENST00000367313.3_Missense_Mutation_p.E515D	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	501						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ACTGAGTCCTCTCGGTTGCAG	0.607000													107	59					0	0	1	0	0
THUMPD2	80745	broad.mit.edu	37	2	39964200	39964200	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:39964200C>G	ENST00000505747.1	-	10	1215		c.e10-1		THUMPD2_ENST00000260619.6_Splice_Site	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2								methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ATGAAGCACTCTGTGACAAAA	0.353000													16	19					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101868342	101868342	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:101868342G>C	ENST00000263468.8	+	11	3592	c.3322G>C	c.(3322-3324)Gat>Cat	p.D1108H	KIAA1377_ENST00000537689.1_Missense_Mutation_p.D909H	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1108							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAGAGAGAAGATAGAACCAG	0.428000													5	88					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713875	142713875	+	RNA	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:142713875G>A	ENST00000610091.1	-	0	1783																											TCCTGATTATGAAAATCCTAA	0.299000													15	36					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103358508	103358508	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:103358508C>T	ENST00000520539.1	-	7	1298	c.692G>A	c.(691-693)gGa>gAa	p.G231E	UBR5_ENST00000521922.1_Missense_Mutation_p.G231E|UBR5_ENST00000220959.4_Missense_Mutation_p.G231E	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	231					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCCATCATCTCCATCTTCATC	0.433000													84	197					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2427906	2427906	+	Missense_Mutation	SNP	C	C	T	rs148532424		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:2427906C>T	ENST00000452833.1	-	21	3250	c.3242G>A	c.(3241-3243)cGg>cAg	p.R1081Q	TRPM5_ENST00000528453.1_Missense_Mutation_p.R1079Q|TRPM5_ENST00000155858.6_Missense_Mutation_p.R1079Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.R1079Q|AC124057.5_ENST00000433035.1_RNA			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1079						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	p.R1079P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCGGTTTTCCGCAGCACCTC	0.617000													74	96					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65269421	65269421	+	RNA	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:65269421G>C	ENST00000534336.1	+	0	4189					NR_002819.2																						ACTCATGCCAGAGAACTTAAA	0.378000													4	28					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230198	91230198	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:91230198C>G	ENST00000509176.1	+	2	1051	c.763C>G	c.(763-765)Cag>Gag	p.Q255E	CCSER1_ENST00000333691.8_Missense_Mutation_p.Q255E|CCSER1_ENST00000432775.2_Missense_Mutation_p.Q255E	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TACCACAGCTCAGACACCTTC	0.433000													49	61					0	0	1	0	0
PQLC2	54896	broad.mit.edu	37	1	19653762	19653762	+	Silent	SNP	C	C	T	rs139194294	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:19653762C>T	ENST00000375153.3	+	7	1300	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PQLC2_ENST00000400548.2_Silent_p.F155F|PQLC2_ENST00000375155.3_Silent_p.F220F	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	220	PQ-loop 2.					integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTCTGTTCGCGCTGGTGA	0.617000													51	69					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53676185	53676185	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:53676185C>G	ENST00000257934.4	+	14	2848	c.2757C>G	c.(2755-2757)ctC>ctG	p.L919L	ESPL1_ENST00000552462.1_Silent_p.L919L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	919					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAAACAACCTCTCACACTCCC	0.572000													5	63					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056962	102056962	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:102056962C>T	ENST00000318222.3	-	6	1342	c.960G>A	c.(958-960)ctG>ctA	p.L320L	PKD2L1_ENST00000338519.3_Silent_p.L245L|PKD2L1_ENST00000353274.3_Silent_p.L320L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	320					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ACTCCACCACCAGCCTATAGG	0.582000													4	52					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106157401	106157401	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:106157401G>C	ENST00000540549.1	+	3	3162	c.2302G>C	c.(2302-2304)Gat>Cat	p.D768H	TET2_ENST00000513237.1_Missense_Mutation_p.D789H|TET2_ENST00000413648.2_Missense_Mutation_p.D768H|TET2_ENST00000394764.1_Missense_Mutation_p.D768H|TET2_ENST00000545826.1_Missense_Mutation_p.D768H|TET2_ENST00000305737.2_Missense_Mutation_p.D768H|TET2_ENST00000380013.4_Missense_Mutation_p.D768H			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	768	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAGCAACAATGATCAGCAAAG	0.383000			"""Mis N, F"""		MDS								42	54					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150925437	150925437	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:150925437C>A	ENST00000261800.5	-	9	5263	c.5251G>T	c.(5251-5253)Gaa>Taa	p.E1751*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1751	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGTCATTTTCATCAATTATG	0.408000													18	147					5.35267e-07	5.53063e-07	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	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								3	18					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58144855	58144855	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:58144855G>C	ENST00000257904.6	-	4	738	c.373C>G	c.(373-375)Cta>Gta	p.L125V	CDK4_ENST00000540325.1_Missense_Mutation_p.L5V|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	125	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGGCCTCTTAGAAACTGGCGC	0.483000			Mis			melanoma			Hereditary Melanoma				4	68					0	0	1	0	0
NSL1	25936	broad.mit.edu	37	1	212911828	212911828	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:212911828C>T	ENST00000366977.3	-	6	786	c.768G>A	c.(766-768)ctG>ctA	p.L256L	NSL1_ENST00000366978.1_Intron|NSL1_ENST00000366976.1_3'UTR|NSL1_ENST00000366975.6_Silent_p.L215L|NSL1_ENST00000422588.2_3'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	256					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTTCTTTTCAGTACCATGT	0.398000													20	176					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4944248	4944248	+	RNA	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:4944248C>G	ENST00000592666.1	+	0	1754							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ACATCGTCCTCACAGCGGGAC	0.652000													4	39					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849046	73849046	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:73849046C>G	ENST00000523207.1	+	3	2044	c.1456C>G	c.(1456-1458)Cac>Gac	p.H486D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	486					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CGACGATAATCACCTGTCGCC	0.512000													16	163					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152190860	152190860	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:152190860G>A	ENST00000368801.2	-	3	3320	c.3245C>T	c.(3244-3246)aCa>aTa	p.T1082I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1082					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTGATGTAGAACCGTG	0.552000													236	587					0	0	1	0	0
ZCCHC3	85364	broad.mit.edu	37	20	279194	279194	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:279194G>A	ENST00000382352.3	+	1	1458	c.967G>A	c.(967-969)Gag>Aag	p.E323K		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	323							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCTGGGGGCCGAGAGGGGCTA	0.632000													43	64					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116398529	116398529	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:116398529C>G	ENST00000397752.3	+	9	2319	c.2119C>G	c.(2119-2121)Ctt>Gtt	p.L707V	MET_ENST00000318493.6_Missense_Mutation_p.L707V|MET_ENST00000436117.2_Missense_Mutation_p.L707V	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	707	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAACAGTATTCTTGAATGTTA	0.328000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				4	111					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570582	9570582	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:9570582C>T	ENST00000400556.3	-	11	1219	c.1146G>A	c.(1144-1146)acG>acA	p.T382T	PPP4R1_ENST00000400555.3_Silent_p.T365T	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	382					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GGTCTTCCATCGTGTTTTCCA	0.478000													161	79					0	0	1	0	0
ZNF66	7617	broad.mit.edu	37	19	20975353	20975353	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:20975353C>A	ENST00000344519.8	+	2	62	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ZNF66_ENST00000594534.1_Missense_Mutation_p.F13L|ZNF66_ENST00000425625.1_Missense_Mutation_p.F59L|ZNF66_ENST00000360204.5_5'UTR																							CCATAGAATTCTCTCTGGAGG	0.408000													65	102					3.52157e-22	3.76379e-22	1	1	0
MKI67	4288	broad.mit.edu	37	10	129904104	129904104	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:129904104C>G	ENST00000368654.3	-	13	6375	c.6000G>C	c.(5998-6000)aaG>aaC	p.K2000N	MKI67_ENST00000368653.3_Missense_Mutation_p.K1640N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2000	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCAAGGATATCTTGAGTCGTT	0.493000													168	41					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271994	65271994	+	RNA	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:65271994G>C	ENST00000534336.1	+	0	6762					NR_002819.2																						GCTGAGTGTTGAGGAAATTTC	0.373000													3	48					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26988259	26988259	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:26988259A>G	ENST00000231021.4	-	2	354	c.182T>C	c.(181-183)tTc>tCc	p.F61S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	61	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCAATAAGAAGAACTGATT	0.383000													14	34					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5489114	5489114	+	Silent	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:5489114C>A	ENST00000341928.2	-	2	409	c.69G>T	c.(67-69)gcG>gcT	p.A23A	EPB41L3_ENST00000342933.3_Silent_p.A23A|EPB41L3_ENST00000540638.2_Silent_p.A23A|EPB41L3_ENST00000544123.1_Silent_p.A23A|EPB41L3_ENST00000400111.3_Silent_p.A23A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	23					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						cctgcgcccccgccgccTCCT	0.687000													31	57					1.30293e-26	1.39996e-26	1	1	0
ZBTB34	403341	broad.mit.edu	37	9	129642198	129642198	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:129642198C>G	ENST00000319119.4	+	2	605	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	ZBTB34_ENST00000373452.2_Missense_Mutation_p.Q170E	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						ATATTGCTCTCAGGGACGGCA	0.592000													40	46					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64619413	64619413	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:64619413G>C	ENST00000357395.3	+	86	16070	c.4926G>C	c.(4924-4926)aaG>aaC	p.K1642N	SYNE2_ENST00000394768.2_Missense_Mutation_p.K1642N|SYNE2_ENST00000344113.4_Missense_Mutation_p.K5257N|SYNE2_ENST00000554584.1_Missense_Mutation_p.K5174N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1891N|SYNE2_ENST00000358025.3_Missense_Mutation_p.K5257N			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5257					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATTTCAAAAGAGAAGCAGTG	0.373000													5	85					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44067368	44067368	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:44067368C>T	ENST00000344290.5	+	8	1629	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P436L|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.P436L|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.P436L	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	436					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CCAGAGCCACCTTCCTCTCCT	0.517000													119	151					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55655686	55655686	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:55655686T>C	ENST00000449290.2	+	4	778	c.686T>C	c.(685-687)aTg>aCg	p.M229T	TRIM51_ENST00000244891.3_Missense_Mutation_p.M86T	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	229						intracellular	zinc ion binding										TTAAGAGGAATGTATGAGGAT	0.448000													10	85					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14075874	14075874	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:14075874G>A	ENST00000235372.7	+	6	1259	c.403G>A	c.(403-405)Gag>Aag	p.E135K	PRDM2_ENST00000311066.5_Missense_Mutation_p.E135K|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Missense_Mutation_p.E135K	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	135	SET.					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)		GCCGGGCGAGGAGCTCCTGGT	0.687000													5	37					0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214498	123214498	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:123214498C>T	ENST00000432564.1	-	1	631	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	HCAR1_ENST00000356987.2_Missense_Mutation_p.R130Q|HCAR1_ENST00000436083.2_Missense_Mutation_p.R130Q	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	130					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R130Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						AGCCGCCACCCGGGTGGAGAT	0.602000													43	54					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133362970	133362970	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:133362970T>C	ENST00000260810.5	-	11	1873	c.1742A>G	c.(1741-1743)aAa>aGa	p.K581R	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	581	BRCT 4.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GGACATGATTTTCCCAGCATT	0.403000								Other conserved DNA damage response genes					38	48					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70820129	70820129	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:70820129G>C	ENST00000358731.4	+	25	6014	c.5751G>C	c.(5749-5751)caG>caC	p.Q1917H	BDP1_ENST00000380675.2_Missense_Mutation_p.Q54H	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1917					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTCTGCTCAGATTGAGGAAA	0.383000													8	51					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509596	105509596	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:105509596C>T	ENST00000276654.5	-	5	1292	c.1184G>A	c.(1183-1185)tGt>tAt	p.C395Y	LRP12_ENST00000424843.2_Missense_Mutation_p.C376Y	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	395	LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATACCCATCACAACGCTGCTG	0.463000													8	118					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78111277	78111277	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:78111277C>T	ENST00000269349.3	-	9	1112	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	297	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGGCTTCCCTCATTTTCTCCG	0.517000													24	24					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59522183	59522183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:59522183G>A	ENST00000038176.3	-	10	879	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.Q254*|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	223	GRAM.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTGAGGGGCTGAAAATACAGG	0.532000													31	37					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131348091	131348091	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131348091G>A	ENST00000372739.3	+	19	2735	c.2625G>A	c.(2623-2625)ctG>ctA	p.L875L	SPTAN1_ENST00000372731.4_Silent_p.L875L|SPTAN1_ENST00000358161.5_Silent_p.L875L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	875					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGGAGGCACTGAAAGCCAAAG	0.537000													31	51					0	0	1	0	0
PBX3	5090	broad.mit.edu	37	9	128677988	128677988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:128677988G>T	ENST00000373487.4	+	3	378	c.298G>T	c.(298-300)Gag>Tag	p.E100*	PBX3_ENST00000373489.5_Nonsense_Mutation_p.E100*|PBX3_ENST00000342287.5_Nonsense_Mutation_p.E100*|PBX3_ENST00000447726.2_Nonsense_Mutation_p.E25*|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Intron			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	100					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AGGAGCCCAGGAGGAGGACCC	0.512000													11	12					0.000673444	0.000687049	1	1	0
FAT3	120114	broad.mit.edu	37	11	92087838	92087838	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:92087838G>A	ENST00000298047.6	+	1	2577	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K	FAT3_ENST00000541502.1_Missense_Mutation_p.E854K|FAT3_ENST00000409404.2_Missense_Mutation_p.E854K|FAT3_ENST00000525166.1_Missense_Mutation_p.E704K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	854	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.I850_E854delIIQVE(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTCAAGTGGAAGCCAGAGA	0.393000										TCGA Ovarian(4;0.039)			22	27					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99020349	99020349	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:99020349C>T	ENST00000299157.4	-	3	866	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	167					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATGTTCATTTCTTCTAGGCTT	0.338000													56	65					0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4028756	4028756	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:4028756G>C	ENST00000262971.2	+	6	826	c.711G>C	c.(709-711)aaG>aaC	p.K237N	PIAS4_ENST00000596144.1_3'UTR	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	237	PINIT.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGCCCAAGAGGCCGTGCC	0.647000													7	32					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28588292	28588292	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:28588292G>A	ENST00000434452.1	-	10	1617	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	DSC3_ENST00000360428.4_Missense_Mutation_p.S488L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	488	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTTGATCTTTGACCCCACTGC	0.403000													5	22					0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	841870	841870	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:841870C>G	ENST00000382276.3	+	1	181	c.32C>G	c.(31-33)tCt>tGt	p.S11C		NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	11					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGCAAGCCCTCTACACCGTCG	0.692000													7	15					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44067427	44067427	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:44067427G>A	ENST00000344290.5	+	8	1688	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.E456K|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.E456K|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.E456K	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	456					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TGGAGCAAAGGAGATGAAACT	0.478000													31	44					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20552067	20552067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:20552067G>T	ENST00000329697.6	-	13	1706	c.1538C>A	c.(1537-1539)tCg>tAg	p.S513*	ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.S434*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.S513*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.S513*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	513					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.S513L(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TAGGAACTGCGAGGCCAGGAT	0.478000													67	13					8.16569e-41	8.82069e-41	1	1	0
COBL	23242	broad.mit.edu	37	7	51095966	51095966	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:51095966C>T	ENST00000395542.2	-	12	3257	c.3073G>A	c.(3073-3075)Gat>Aat	p.D1025N	COBL_ENST00000265136.7_Missense_Mutation_p.D943N			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	943										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACTGCCAAATCTTCCCCGTGG	0.562000													4	93					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117633952	117633952	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:117633952C>G	ENST00000369466.4	+	16	2635	c.2591C>G	c.(2590-2592)tCa>tGa	p.S864*		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGAGGCAGGTCAGCTCTGCAA	0.393000													42	77					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86921014	86921014	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:86921014C>T	ENST00000370565.4	+	14	2798	c.2636C>T	c.(2635-2637)tCt>tTt	p.S879F		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	879					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCTGCTGTATCTAACATTGCC	0.423000													21	275					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99663097	99663097	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:99663097C>G	ENST00000373034.4	-	1	2174	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	PCDH19_ENST00000255531.7_Missense_Mutation_p.E167Q|PCDH19_ENST00000420881.2_Missense_Mutation_p.E167Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	167	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGCGTGAGCTCGTAAGTCTGC	0.637000													39	5					0	0	1	0	0
RAD51D	5892	broad.mit.edu	37	17	33430494	33430494	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:33430494G>A	ENST00000345365.6	-	7	901	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	RAD51D_ENST00000335858.7_Silent_p.L104L|RAD51D_ENST00000360276.3_Silent_p.L171L|RAD51D_ENST00000460118.2_Silent_p.L97L|RAD51D_ENST00000394589.4_Silent_p.L216L|RAD51D_ENST00000590016.1_Silent_p.L236L|RAD51D_ENST00000590380.1_5'UTR|RAD51L3-RFFL_ENST00000593039.1_Silent_p.L57L	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	216					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGACCTCCCAGAAGTGGGGAA	0.592000								Direct reversal of damage					47	66					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18840786	18840786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:18840786G>T	ENST00000377304.4	-	9	1455	c.1037C>A	c.(1036-1038)tCa>tAa	p.S346*		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	346							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGGCTGATATGATGCCACTTC	0.428000													5	155					0.00198382	0.00201372	1	1	0
MMAB	326625	broad.mit.edu	37	12	110002929	110002929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:110002929G>A	ENST00000545712.2	-	4	736	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	MMAB_ENST00000266839.5_Nonsense_Mutation_p.Q24*|MMAB_ENST00000540016.1_Nonsense_Mutation_p.Q63*	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	115					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCACTTTCTGAAGCTCTTCG	0.468000													19	226					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6703366	6703366	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:6703366G>A	ENST00000338694.2	-	8	1366	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	TEKT1_ENST00000535086.1_Missense_Mutation_p.R267C	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	413					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GCATCAGGGCGGAGGCCCCCA	0.488000													63	105					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942471	6942471	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:6942471G>C	ENST00000317834.3	+	1	267	c.239G>C	c.(238-240)aGa>aCa	p.R80T		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTTTTCTTAGAAATCTCTCC	0.408000													55	58					0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33454844	33454844	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:33454844C>T	ENST00000256261.4	-	2	707	c.190G>A	c.(190-192)Gag>Aag	p.E64K	DUSP26_ENST00000523956.1_Missense_Mutation_p.E64K	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	64	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGCCAGACCTCGTCGGCATGG	0.557000													12	2					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53039469	53039469	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:53039469C>T	ENST00000378037.5	+	6	1438	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	CKAP2_ENST00000490903.1_Silent_p.L401L|CKAP2_ENST00000258607.5_Silent_p.L449L|CKAP2_ENST00000378034.3_Silent_p.L449L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	450					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ACTGAATGACCTGATTAAAAA	0.303000													5	173					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838515	43838515	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr21:43838515G>A	ENST00000319294.6	+	7	874	c.843G>A	c.(841-843)ctG>ctA	p.L281L	UBASH3A_ENST00000398367.1_Silent_p.L243L|UBASH3A_ENST00000291535.6_Silent_p.L243L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	281	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCTAGACCCTGAGAGCCCTAT	0.522000													11	199					0	0	1	0	0
KLRC4-KLRK1	100528032	broad.mit.edu	37	12	10562024	10562024	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:10562024C>G	ENST00000539300.1	-	1	124	c.125G>C	c.(124-126)gGa>gCa	p.G42A	KLRC4_ENST00000309384.1_Missense_Mutation_p.D51H																							CCTTGATGATCCGAAGAAGCA	0.353000													10	140					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106243186	106243186	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:106243186C>T	ENST00000355610.4	-	1	288	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	MORC4_ENST00000535534.1_5'UTR|MORC4_ENST00000255495.7_Missense_Mutation_p.R5Q	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	5							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						gggggccccTCGGTACAGGAG	0.766000													6	0					0	0	1	0	0
SYCP3	50511	broad.mit.edu	37	12	102122982	102122982	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:102122982C>T	ENST00000392927.3	-	8	693	c.562G>A	c.(562-564)Gag>Aag	p.E188K	SYCP3_ENST00000392924.1_Missense_Mutation_p.E188K|SYCP3_ENST00000266743.2_Missense_Mutation_p.E188K	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	188	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTCTCCAACTCTTCCATACTC	0.289000													25	37					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560379	35560379	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35560379G>A	ENST00000455600.1	+	10	4311	c.3742G>A	c.(3742-3744)Gaa>Aaa	p.E1248K		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1248	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			agaggagacagaagaggtggc	0.667000													8	18					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220100580	220100580	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:220100580C>T	ENST00000323348.5	+	12	2128	c.1954C>T	c.(1954-1956)Ctc>Ttc	p.L652F	ANKZF1_ENST00000409849.1_Missense_Mutation_p.L442F|ANKZF1_ENST00000410034.3_Missense_Mutation_p.L652F	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	652						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTTGCCGCCCTCAGTGACCG	0.622000													46	93					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517192	158517192	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:158517192G>A	ENST00000302617.3	-	1	703	c.704C>T	c.(703-705)tCt>tTt	p.S235F		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCCCTGAGCAGAAGGGATCCT	0.522000													55	95					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23767922	23767922	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:23767922G>A	ENST00000336689.3	-	9	836	c.792C>T	c.(790-792)ctC>ctT	p.L264L	ASAP3_ENST00000437606.2_Silent_p.L255L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	264					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGGAGTCCCGGAGCTGGGTCA	0.597000													11	22					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993420	21993420	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:21993420C>T	ENST00000327430.3	-	2	736	c.442G>A	c.(442-444)Gga>Aga	p.G148R	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	148							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGGGTTGCTCCCAGCTTGGGA	0.652000													46	73					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46080036	46080036	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:46080036C>A	ENST00000350030.3	+	9	1751	c.1664C>A	c.(1663-1665)tCt>tAt	p.S555Y	NASP_ENST00000530073.1_3'UTR|NASP_ENST00000537798.1_Missense_Mutation_p.S491Y|NASP_ENST00000372052.4_Missense_Mutation_p.S189Y|NASP_ENST00000402363.3_Missense_Mutation_p.S557Y|NASP_ENST00000351223.3_Missense_Mutation_p.S216Y	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	555	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGTGTTGAATCTGGTAATGCA	0.378000													25	42					9.65021e-13	1.02597e-12	1	1	0
TEC	7006	broad.mit.edu	37	4	48151605	48151605	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:48151605C>G	ENST00000381501.3	-	11	1132	c.975G>C	c.(973-975)gaG>gaC	p.E325D	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	325	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATTCAATAATCTCAGGAATGG	0.343000													3	88					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475599	52475599	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:52475599G>T	ENST00000231721.2	-	6	657	c.658C>A	c.(658-660)Ctc>Atc	p.L220I		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	220	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCGTGCAAGAGACTCTGGTCA	0.627000													3	51					1	1	1	1	0
GAS6	2621	broad.mit.edu	37	13	114523972	114523972	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:114523972C>T	ENST00000357389.3	-	15	2183	c.2031G>A	c.(2029-2031)gcG>gcA	p.A677A	GAS6_ENST00000418959.3_Silent_p.A335A|GAS6_ENST00000355761.4_Silent_p.A580A|GAS6_ENST00000327773.6_Silent_p.A634A|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Silent_p.A361A			Q14393	GAS6_HUMAN	growth arrest-specific 6	677	Laminin G-like 2.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGGTGACTGGCGCTGAAGTCA	0.672000													4	67					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17405223	17405223	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:17405223C>A	ENST00000247706.3	-	4	1262	c.1023G>T	c.(1021-1023)atG>atT	p.M341I	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	341							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGCCGCTCATCATGGCCCGGA	0.632000													18	158					8.34094e-07	8.5744e-07	1	1	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	14					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940993	113940993	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:113940993C>T	ENST00000441564.3	+	2	1129	c.960C>T	c.(958-960)ttC>ttT	p.F320F	PSD4_ENST00000245796.6_Silent_p.F320F			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.F320F(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCTCCATTCCCTGTGCCCA	0.607000													4	84					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701216	192701216	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:192701216C>G	ENST00000304141.4	-	2	1040	c.711G>C	c.(709-711)aaG>aaC	p.K237N		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	237						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TATCCACTTTCTTCAGGCTGG	0.463000													18	226					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132347277	132347277	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:132347277C>G	ENST00000264990.6	-	8	1948	c.977G>C	c.(976-978)aGa>aCa	p.R326T	ACAD11_ENST00000481970.2_Missense_Mutation_p.R326T|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.R326T	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CAGAAGATATCTGCTATATAC	0.348000													7	96					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41737167	41737167	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:41737167G>C	ENST00000301178.4	+	6	937	c.747G>C	c.(745-747)ctG>ctC	p.L249L	AXL_ENST00000359092.3_Silent_p.L249L|AXL_ENST00000593513.1_5'UTR	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	249	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTCCAGGCCTGAGCGGCATCT	0.622000													4	77					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2921615	2921615	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:2921615G>A	ENST00000261596.4	-	18	2596	c.2358C>T	c.(2356-2358)ttC>ttT	p.F786F	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	786	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ACTCAATTTTGAACTTCTCTG	0.393000													8	204					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560391	35560391	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35560391G>A	ENST00000455600.1	+	10	4323	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1252						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			agaggtggcagaggcagCCGG	0.652000													15	23					0	0	1	0	0
BDH2	56898	broad.mit.edu	37	4	104003301	104003301	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:104003301C>A	ENST00000296424.4	-	9	741	c.621G>T	c.(619-621)aaG>aaT	p.K207N		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	207					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		ATCTTCCCGTCTTTTGTCTCT	0.458000													8	85					2.17888e-05	2.22852e-05	1	1	0
CCDC88A	55704	broad.mit.edu	37	2	55563882	55563882	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:55563882G>C	ENST00000436346.1	-	14	2432	c.1591C>G	c.(1591-1593)Cta>Gta	p.L531V	CCDC88A_ENST00000263630.8_Missense_Mutation_p.L531V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L531V|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L531V|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	531					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCCTTCATTAGATCCTTGCTT	0.299000													11	90					0	0	1	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238815	71238815	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:71238815G>T	ENST00000398536.4	+	1	503	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	157	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TAGCTGCTGTGTCCCCGTGTG	0.572000													136	202					2.45186e-53	2.69171e-53	1	1	0
NEIL3	55247	broad.mit.edu	37	4	178274823	178274823	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:178274823G>A	ENST00000264596.3	+	8	1519	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	467					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATAAAAAACCGAAAACAGCCC	0.353000								Base excision repair (BER), DNA glycosylases					35	51					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2978453	2978453	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:2978453T>A	ENST00000396946.4	-	7	1280	c.877A>T	c.(877-879)Agc>Tgc	p.S293C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	293					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTGGCAGGCTGCGCTTCCCG	0.632000			Mis		DLBCL								4	84					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79936980	79936980	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:79936980C>G	ENST00000373275.4	-	40	4730	c.4514G>C	c.(4513-4515)gGg>gCg	p.G1505A	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1505										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAGTGAAAGCCCTTCAGCAGC	0.373000													5	33					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30412081	30412081	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:30412081T>A	ENST00000375994.2	+	5	1171	c.898T>A	c.(898-900)Tgt>Agt	p.C300S	MYLK2_ENST00000375985.4_Missense_Mutation_p.C300S			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	300	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGGGCAGTCTGTACCTGCAT	0.562000													23	41					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178152427	178152427	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:178152427C>G	ENST00000335815.2	-	4	403	c.206G>C	c.(205-207)gGa>gCa	p.G69A		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	69	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GGGATCTTCTCCTTGCTGCAA	0.493000													21	133					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39502796	39502796	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:39502796C>A	ENST00000007735.3	-	6	1045	c.1001G>T	c.(1000-1002)cGg>cTg	p.R334L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	334	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CTGGTTCTGCCGCTCCAGGTC	0.632000													84	108					5.78178e-49	6.27914e-49	1	1	0
FRY	10129	broad.mit.edu	37	13	32757127	32757127	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:32757127G>C	ENST00000380250.3	+	24	3506	c.3010G>C	c.(3010-3012)Gaa>Caa	p.E1004Q		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1004					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTGGTAGAAGAACTTCATCC	0.313000													7	78					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121465572	121465572	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:121465572G>C	ENST00000257570.5	-	4	976	c.706C>G	c.(706-708)Ctt>Gtt	p.L236V	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	236					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAAGTTCAAGAGCATAGAGA	0.488000													3	78					0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10301923	10301923	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:10301923A>G	ENST00000287652.4	+	3	1568	c.517A>G	c.(517-519)Agg>Ggg	p.R173G	RP11-438J1.1_ENST00000450534.1_Silent_p.K99K|TATDN2_ENST00000448281.2_Missense_Mutation_p.R173G	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	173						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGTCCAGAAAAGGAAGAGGGA	0.473000													47	41					0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109339242	109339242	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:109339242G>T	ENST00000370008.3	+	15	1300	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	417					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		CCTATTTAAGGAACTACGGAA	0.338000													26	27					1.68575e-08	1.75527e-08	1	1	0
PPRC1	23082	broad.mit.edu	37	10	103900069	103900069	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:103900069G>T	ENST00000278070.2	+	5	1843	c.1804G>T	c.(1804-1806)Gct>Tct	p.A602S	PPRC1_ENST00000413464.2_Missense_Mutation_p.A602S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCTGTTCTAGCTGGCCCTGT	0.562000													3	72					1	1	1	1	0
BLZF1	8548	broad.mit.edu	37	1	169345923	169345923	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:169345923G>C	ENST00000367808.3	+	3	597	c.174G>C	c.(172-174)gaG>gaC	p.E58D	BLZF1_ENST00000367807.3_Missense_Mutation_p.E58D|BLZF1_ENST00000329281.2_Missense_Mutation_p.E58D			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	58					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					TTCCATCAGAGAGCCCAGGAG	0.413000													20	83					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813767	60813767	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:60813767C>A	ENST00000544856.2	-	7	1837	c.1459G>T	c.(1459-1461)Gac>Tac	p.D487Y	RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.D488Y|MARCH10_ENST00000583600.1_Missense_Mutation_p.D526Y|MARCH10_ENST00000311269.5_Missense_Mutation_p.D488Y|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	488							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ATTGACAAGTCTACTGGAATA	0.433000													13	133					6.31663e-08	6.5602e-08	1	1	0
SORCS2	57537	broad.mit.edu	37	4	7398029	7398029	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:7398029G>C	ENST00000507866.2	+	2	604	c.495G>C	c.(493-495)ctG>ctC	p.L165L	SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_5'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	165						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTGATCCTGACGAAGTACT	0.517000													18	35					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476771	120476771	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:120476771C>G	ENST00000355622.6	+	3	2466	c.2365C>G	c.(2365-2367)Ctc>Gtc	p.L789V	TLR4_ENST00000394487.4_Missense_Mutation_p.L749V|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	789	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTACCGCCTTCTCAGCAGGAA	0.552000													50	55					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136917464	136917464	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:136917464G>A	ENST00000303407.7	-	3	500	c.315C>T	c.(313-315)ttC>ttT	p.F105F	BRD3_ENST00000357885.2_Silent_p.F105F|BRD3_ENST00000371834.2_Silent_p.F105F	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	105	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ACATGGTGTTGAAGTCCTGCA	0.398000			T	C15orf55	lethal midline carcinoma of young people								5	52					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208795681	208795681	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:208795681G>A	ENST00000457206.1	-	5	2282	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.R619W|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.R619W			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	619					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCGCTGCCCGGCAGCTGAAC	0.622000													5	99					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52859944	52859944	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:52859944G>A	ENST00000266041.4	-	6	813	c.717C>T	c.(715-717)atC>atT	p.I239I	ITIH4_ENST00000434759.3_Silent_p.I151I|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Silent_p.I239I|ITIH4_ENST00000406595.1_Silent_p.I239I|ITIH4_ENST00000346281.5_Silent_p.I239I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	239					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CATCATAGCGGATAATGAGGT	0.572000													8	81					0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23648144	23648144	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:23648144C>T	ENST00000478691.1	-	6	656	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	HNRNPR_ENST00000374616.3_Missense_Mutation_p.E230K|HNRNPR_ENST00000606561.1_Missense_Mutation_p.E91K|HNRNPR_ENST00000374612.1_Missense_Mutation_p.E230K|HNRNPR_ENST00000302271.6_Missense_Mutation_p.E230K|HNRNPR_ENST00000426846.2_Missense_Mutation_p.E70K|HNRNPR_ENST00000427764.2_Missense_Mutation_p.E192K	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	230	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGGCGAATTTCATAGCTGTCA	0.383000													78	92					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57367761	57367761	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:57367761A>G	ENST00000403558.1	+	2	929	c.563A>G	c.(562-564)tAc>tGc	p.Y188C	SERPING1_ENST00000340687.6_Missense_Mutation_p.Y154C|SERPING1_ENST00000378324.2_Missense_Mutation_p.Y102C|SERPING1_ENST00000378323.4_Missense_Mutation_p.Y159C|SERPING1_ENST00000278407.4_Missense_Mutation_p.Y154C	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	154					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTGAAGCTCTACCACGCCTTC	0.542000													10	169					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56825382	56825382	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:56825382C>T	ENST00000229201.4	-	8	845	c.691G>A	c.(691-693)Gag>Aag	p.E231K	TIMELESS_ENST00000554616.1_Missense_Mutation_p.E232K|TIMELESS_ENST00000553532.1_Missense_Mutation_p.E232K	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	232					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCCAGCTGCTCGGGGTTCTAG	0.517000													4	60					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14764040	14764040	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:14764040T>C	ENST00000358984.4	+	7	1356	c.1176T>C	c.(1174-1176)aaT>aaC	p.N392N	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.N392N	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	392										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAACATCTAATATGATTGCAT	0.383000													32	9					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58954657	58954657	+	Silent	SNP	T	T	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:58954657T>G	ENST00000423743.3	+	24	3483	c.3225T>G	c.(3223-3225)acT>acG	p.T1075T	KIAA0586_ENST00000556134.1_Silent_p.T1104T|KIAA0586_ENST00000261244.5_Silent_p.T1043T|KIAA0586_ENST00000354386.6_Silent_p.T1172T|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1043										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTACCCCTACTACTACACCTC	0.418000													10	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588019	179588019	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179588019G>T	ENST00000589042.1	-	75	21939	c.21715C>A	c.(21715-21717)Cat>Aat	p.H7239N	TTN_ENST00000342992.6_Missense_Mutation_p.H5995N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H6922N|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6922	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTACAGAATGATCACTTAAT	0.388000													14	36					9.16793e-09	9.57066e-09	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131346753	131346753	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131346753G>C	ENST00000372739.3	+	17	2496	c.2386G>C	c.(2386-2388)Gag>Cag	p.E796Q	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E796Q|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E796Q	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	796					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGTTGAGGATGAGGAGACGTG	0.562000													13	26					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527083	23527083	+	Missense_Mutation	SNP	G	G	C	rs112192848		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:23527083G>C	ENST00000296682.3	+	11	2068	c.1886G>C	c.(1885-1887)aGa>aCa	p.R629T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	629					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACCAGAGGAGACACACAGGG	0.612000										HNSCC(3;0.000094)			3	145					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36697638	36697638	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36697638C>G	ENST00000216181.5	-	21	2803	c.2573G>C	c.(2572-2574)aGa>aCa	p.R858T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	858					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGCTTCTCTCTGACCTTCAC	0.617000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	11					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553317	140553317	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:140553317C>T	ENST00000231137.3	+	1	1075	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		301	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGCAGTCTTCATCTTAA	0.408000													73	12					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343318	69343318	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:69343318G>A	ENST00000305363.4	+	8	1003	c.939G>A	c.(937-939)gtG>gtA	p.V313V		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	313	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TGATGTTTGTGACAGGATTTG	0.403000													190	248					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103373849	103373849	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:103373849C>T	ENST00000520539.1	-	2	674	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	UBR5_ENST00000521922.1_Missense_Mutation_p.R23Q|UBR5_ENST00000220959.4_Missense_Mutation_p.R23Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	23					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGAAACTTCTCGTAACCTTTA	0.269000													24	40					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203676348	203676348	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:203676348G>A	ENST00000357681.5	+	9	2434	c.1311G>A	c.(1309-1311)gtG>gtA	p.V437V	ATP2B4_ENST00000391954.2_Silent_p.V437V|ATP2B4_ENST00000367219.3_Silent_p.V425V|ATP2B4_ENST00000341360.2_Silent_p.V437V|ATP2B4_ENST00000367218.3_Silent_p.V437V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	437					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTACTCTGTGAAGGTGAGAC	0.468000													7	115					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21934388	21934388	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:21934388C>T	ENST00000328843.6	+	79	12950	c.12919C>T	c.(12919-12921)Cgt>Tgt	p.R4307C	DNAH11_ENST00000409508.3_Missense_Mutation_p.R4300C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4307					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCGGGAAATACGTATATCACT	0.368000									Kartagener syndrome				11	10					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220174523	220174523	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:220174523G>T	ENST00000366923.3	-	17	2407	c.2138C>A	c.(2137-2139)tCa>tAa	p.S713*		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	713	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTTTGACCCTGATGTTGGCAT	0.373000													29	65					2.81731e-10	2.96405e-10	1	1	0
NUP85	79902	broad.mit.edu	37	17	73231773	73231773	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:73231773G>A	ENST00000245544.4	+	19	2041	c.1970G>A	c.(1969-1971)tGa>tAa	p.*657*	NUP85_ENST00000579298.1_Silent_p.*612*|NUP85_ENST00000541827.1_Silent_p.*611*|NUP85_ENST00000540768.1_Silent_p.*260*|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000579324.1_Silent_p.*545*	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	0					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GAAGGTTCCTGAGAACTGCTT	0.398000													8	70					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039136	31039136	+	Silent	SNP	G	G	A	rs149881182	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:31039136G>A	ENST00000355537.3	+	4	2757	c.2610G>A	c.(2608-2610)tcG>tcA	p.S870S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGATCACTCGGGGCAGGCCA	0.582000													31	40					0	0	1	0	0
NOP58	51602	broad.mit.edu	37	2	203164980	203164980	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:203164980C>G	ENST00000264279.5	+	13	1518	c.1292C>G	c.(1291-1293)tCt>tGt	p.S431C		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	431					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TACGATCCTTCTGGTGACTCC	0.333000													11	89					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134216707	134216707	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:134216707G>C	ENST00000359579.4	+	3	602	c.282G>C	c.(280-282)gaG>gaC	p.E94D	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	94					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AAGCCTTTGAGAAGACCCTCA	0.468000													8	136					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1370776	1370776	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:1370776G>A	ENST00000359786.5	-	30	3387	c.3063C>T	c.(3061-3063)ggC>ggT	p.G1021G	MYO1C_ENST00000545534.2_Silent_p.G997G|MYO1C_ENST00000361007.2_Silent_p.G986G|MYO1C_ENST00000438665.2_Silent_p.G1002G|MYO1C_ENST00000575158.1_Silent_p.G986G	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	1021					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCCTCACCTGCCCTGGTTGA	0.677000													10	68					0	0	1	0	0
CD3EAP	10849	broad.mit.edu	37	19	45912513	45912513	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:45912513G>C	ENST00000309424.3	+	3	1775	c.1287G>C	c.(1285-1287)gaG>gaC	p.E429D	ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.E431D|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	429					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		agaagaaagagaGAGGTCACA	0.577000													22	10					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538044	39538044	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:39538044G>C	ENST00000394001.1	-	2	508	c.478C>G	c.(478-480)Ctg>Gtg	p.L160V		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	160	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.L160L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TTGGCACACAGAATCTGAAAA	0.483000													39	45					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139917031	139917031	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:139917031G>A	ENST00000297183.6	+	31	7209	c.7085G>A	c.(7084-7086)cGa>cAa	p.R2362Q	ANKHD1_ENST00000360839.2_Missense_Mutation_p.R2362Q|ANKHD1_ENST00000544120.1_Missense_Mutation_p.R686Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R2362Q	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCAAGATCGAAAGATACCT	0.547000													44	27					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128973917	128973917	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:128973917C>T	ENST00000314797.6	+	7	593	c.489C>T	c.(487-489)tcC>tcT	p.S163S		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	163					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TCGTGTCTTCCTTGGTGTGTA	0.488000													17	33					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679356	219679356	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:219679356G>C	ENST00000258415.4	+	8	1779	c.1352G>C	c.(1351-1353)aGa>aCa	p.R451T		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	451					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CGCTGGCTGAGAAACAGCCAG	0.607000													6	60					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	169623	169623	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:169623C>T	ENST00000283426.6	+	12	2627	c.2577C>T	c.(2575-2577)caC>caT	p.H859H		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	859	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCACGACTTCCACC	0.567000													62	163					0	0	1	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534978	5534978	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:5534978G>A	ENST00000397747.3	+	3	537	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.E97K	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	97	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		AGTGAGGGACGAAGGACAGTA	0.507000													26	38					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		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)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								3	20					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53819270	53819270	+	Silent	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:53819270A>G	ENST00000257863.4	+	5	614	c.534A>G	c.(532-534)cgA>cgG	p.R178R	AMHR2_ENST00000550311.1_Silent_p.R178R|AMHR2_ENST00000379791.3_Silent_p.R178R	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	178					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	ACAGAGTGCGAGGTGAGCCAG	0.582000													3	116					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56142555	56142555	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:56142555G>A	ENST00000416613.1	+	40	3846	c.3774G>A	c.(3772-3774)ttG>ttA	p.L1258L	KTN1_ENST00000555573.1_Silent_p.L235L|KTN1_ENST00000395314.3_Silent_p.L1258L|KTN1_ENST00000395308.1_Silent_p.L1207L|KTN1_ENST00000395309.3_Silent_p.L1258L|KTN1_ENST00000413890.2_Silent_p.L1207L|KTN1_ENST00000438792.2_Silent_p.L1201L|KTN1_ENST00000395311.1_Silent_p.L1207L|KTN1_ENST00000554507.1_Silent_p.L496L			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1258					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TTTTACAGTTGAAGGCACAGT	0.368000			T	RET	papillary thryoid								22	32					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149373	129149373	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:129149373C>G	ENST00000540052.1	+	3	2669	c.2625C>G	c.(2623-2625)ctC>ctG	p.L875L	BCORL1_ENST00000218147.7_Silent_p.L875L|BCORL1_ENST00000303743.5_Silent_p.L875L|BCORL1_ENST00000359304.2_Silent_p.L875L	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	875					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGCCATCTCTCAGCTCCAGCG	0.602000													5	30					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48761858	48761858	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:48761858C>A	ENST00000314191.2	-	55	7190	c.7134G>T	c.(7132-7134)atG>atT	p.M2378I	PRKDC_ENST00000338368.3_Missense_Mutation_p.M2378I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2379					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACACAGCATTCATGAACCTGG	0.542000								Non-homologous end-joining					14	132					1.15088e-07	1.19219e-07	1	1	0
SMC2	10592	broad.mit.edu	37	9	106882409	106882409	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:106882409G>A	ENST00000286398.7	+	16	2386	c.2098G>A	c.(2098-2100)Gag>Aag	p.E700K	SMC2_ENST00000303219.8_Missense_Mutation_p.E700K|SMC2_ENST00000374787.3_Missense_Mutation_p.E700K|SMC2_ENST00000374793.3_Missense_Mutation_p.E700K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	700					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGCTCTAGAAGAGGAATTAGC	0.353000													80	95					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176998793	176998793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:176998793G>T	ENST00000367654.3	-	5	1308	c.1097C>A	c.(1096-1098)tCa>tAa	p.S366*	ASTN1_ENST00000424564.2_Nonsense_Mutation_p.S366*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.S366*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.S366*|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTGCTCCTTGAAGGATCCGT	0.552000													7	61					1	1	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65273757	65273757	+	RNA	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:65273757G>C	ENST00000534336.1	+	0	8525					NR_002819.2																						CAATATCTTTGAACTATATAC	0.378000													4	35					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75761397	75761397	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:75761397G>T	ENST00000260113.2	+	6	865	c.686G>T	c.(685-687)tGt>tTt	p.C229F	PI15_ENST00000523773.1_Missense_Mutation_p.C229F|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	229						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GGGGTACCATGTTCATCTTGT	0.393000													78	100					4.4782e-45	4.85038e-45	1	1	0
MMP16	4325	broad.mit.edu	37	8	89180039	89180039	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:89180039A>T	ENST00000286614.6	-	4	849	c.568T>A	c.(568-570)Tct>Act	p.S190T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	190					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGGAAACCAGATGCAAAAATA	0.438000													37	36					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31626439	31626439	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:31626439C>T	ENST00000399332.1	-	11	2181	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N	HECTD1_ENST00000553700.1_Missense_Mutation_p.D565N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	565					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACATCAGAATCACAAACTTCT	0.338000													74	87					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642643	1642643	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:1642643C>G	ENST00000399682.1	-	1	725	c.681G>C	c.(679-681)aaG>aaC	p.K227N		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	287	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCTCAGATCTTACACTGGC	0.547000													9	159					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50642443	50642443	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:50642443G>A	ENST00000341247.4	-	2	241	c.92C>T	c.(91-93)tCa>tTa	p.S31L	LIMA1_ENST00000394943.3_Missense_Mutation_p.S31L	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	31					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AATAGCCGATGACTTGTTCTT	0.438000													41	50					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108371749	108371749	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:108371749G>C	ENST00000263054.6	-	22	2960	c.2953C>G	c.(2953-2955)Cca>Gca	p.P985A	SORCS1_ENST00000369698.1_Missense_Mutation_p.P520A|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.P985A	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	985						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCAGGTTTGGAGAAAAGGAC	0.458000													33	7					0	0	1	0	0
PIGL	9487	broad.mit.edu	37	17	16137360	16137360	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:16137360C>G	ENST00000395844.4	+	2	328	c.311C>G	c.(310-312)tCc>tGc	p.S104C	PIGL_ENST00000581006.1_Missense_Mutation_p.S104C|PIGL_ENST00000498772.2_Missense_Mutation_p.S104C|PIGL_ENST00000225609.5_Missense_Mutation_p.S104C			Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L						C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		ATTCCACTCTCCAGTGTAATG	0.333000													79	8					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55401022	55401022	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:55401022C>T	ENST00000391723.3	+	4	547	c.547C>T	c.(547-549)Cca>Tca	p.P183S	FCAR_ENST00000391725.3_Silent_p.I197I|FCAR_ENST00000391724.3_Silent_p.I185I|FCAR_ENST00000345937.4_Silent_p.I123I|FCAR_ENST00000359272.4_Silent_p.I207I|FCAR_ENST00000391726.3_Silent_p.I111I|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Silent_p.I110I|FCAR_ENST00000355524.3_Silent_p.I219I	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAGACTCCATCCACCAAGATT	0.512000													52	606					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50044977	50044977	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:50044977C>T	ENST00000335154.5	-	16	2004	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	FMNL3_ENST00000293590.5_Missense_Mutation_p.E591K|FMNL3_ENST00000352151.5_Missense_Mutation_p.E540K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E591K	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	591	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCATCAAGTTCGCTGAAGACA	0.512000													10	141					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53227849	53227849	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:53227849C>T	ENST00000330553.5	-	1	230	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	66	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGTGGCCCCCCAAGTTATAG	0.642000													28	31					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19285429	19285429	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:19285429C>T	ENST00000308406.5	+	5	2199	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	MAPK7_ENST00000395602.4_Missense_Mutation_p.P605S|MAPK7_ENST00000299612.7_Missense_Mutation_p.P466S|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.P605S	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	605	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACCTACCAGTCCTCCTCCTGG	0.711000													13	0					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10254974	10254974	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:10254974C>G	ENST00000256458.4	+	5	702	c.612C>G	c.(610-612)gtC>gtG	p.V204V		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	204					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAGACGTGGTCCAGGCAACCG	0.527000													14	66					0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770614	152770614	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:152770614G>A	ENST00000326233.6	+	2	387	c.344G>A	c.(343-345)tGa>tAa	p.*115*		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	0					cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTGCTGCTGAAGTGGACCT	0.602000													39	2					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43527531	43527531	+	Nonstop_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:43527531C>G	ENST00000514514.1	-	10	1286	c.1056G>C	c.(1054-1056)taG>taC	p.*352Y	PAIP1_ENST00000436644.2_Missense_Mutation_p.E384Q|PAIP1_ENST00000306846.3_Missense_Mutation_p.E463Q|PAIP1_ENST00000338972.4_Missense_Mutation_p.E351Q			Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	0	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TAAGCTTCTTCTATCTCTGGG	0.333000													7	98					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105436556	105436556	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:105436556A>C	ENST00000351513.2	-	7	1286	c.1154T>G	c.(1153-1155)aTt>aGt	p.I385S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	385					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGATTAAAAATTTTGGCTGC	0.353000													30	42					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154227805	154227805	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:154227805C>G	ENST00000360256.4	-	2	414	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	72	F5/8 type A 1.|Plastocyanin-like 1.		E -> K (in HEMA; moderate).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCGTGAATTCTACAAACAGA	0.388000													23	91					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85266414	85266414	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:85266414G>C	ENST00000266682.5	-	8	1810	c.1269C>G	c.(1267-1269)ctC>ctG	p.L423L	SLC6A15_ENST00000552192.1_Silent_p.L316L|SLC6A15_ENST00000309283.7_Silent_p.L131L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	423					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						TACAGGAATTGAGATGAAGAG	0.318000													29	48					0	0	1	0	0
TIGD7	91151	broad.mit.edu	37	16	3349173	3349173	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:3349173C>T	ENST00000396862.1	-	2	3270	c.1442G>A	c.(1441-1443)aGa>aAa	p.R481K	TIGD7_ENST00000268674.2_Missense_Mutation_p.R481K	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	481					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CAAACTCTCTCTTACAGCAGA	0.393000													74	15					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143045828	143045828	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:143045828C>G	ENST00000513000.1	-	20	2239	c.1806G>C	c.(1804-1806)ctG>ctC	p.L602L	INPP4B_ENST00000509777.1_Silent_p.L602L|INPP4B_ENST00000508116.1_Silent_p.L602L|INPP4B_ENST00000308502.4_Silent_p.L602L|INPP4B_ENST00000262992.4_Silent_p.L602L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	602					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCACAAATGTCAGGGACTGCT	0.537000													32	48					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169681198	169681198	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:169681198G>A	ENST00000444448.2	+	5	644	c.168G>A	c.(166-168)ctG>ctA	p.L56L	NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000397209.2_Intron|NOSTRIN_ENST00000458381.2_Silent_p.L56L|NOSTRIN_ENST00000397206.2_5'UTR|NOSTRIN_ENST00000317647.7_Silent_p.L56L|NOSTRIN_ENST00000421711.2_Intron			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	56	FCH.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAAGCAAGCTGAGCAAAGCAT	0.393000													8	88					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196643008	196643008	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:196643008G>C	ENST00000367429.4	+	3	506	c.266G>C	c.(265-267)gGa>gCa	p.G89A	CFH_ENST00000359637.2_Missense_Mutation_p.G89A|CFH_ENST00000439155.2_Missense_Mutation_p.G89A	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	89	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGACATCCTGGAGATACTCCT	0.363000													13	199					0	0	1	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27778040	27778040	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:27778040C>G	ENST00000369163.2	+	1	199	c.189C>G	c.(187-189)atC>atG	p.I63M		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	63					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						AGCTGCTGATCAGAAAGCTGC	0.617000													4	71					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8499822	8499822	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:8499822C>T	ENST00000381196.4	-	22	2690	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000360074.4_Missense_Mutation_p.R703H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R703H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.R716H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.R716H|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	716	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R716L(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCGACTTTGCGAGGAGGACC	0.448000										TSP Lung(15;0.13)			30	51					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129777521	129777521	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:129777521G>A	ENST00000421865.2	+	48	6798	c.6749G>A	c.(6748-6750)gGa>gAa	p.G2250E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2250	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCCCTGGATGGACCCAAAGCC	0.478000													104	26					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825046	74825046	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:74825046G>C	ENST00000256362.4	+	2	1801	c.1560G>C	c.(1558-1560)ctG>ctC	p.L520L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	520					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCAGGTGCTGAGTGGGCATC	0.672000													43	100					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	178977723	178977723	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:178977723G>A	ENST00000377001.2	+	1	153	c.153G>A	c.(151-153)cgG>cgA	p.R51R	RUFY1_ENST00000319449.4_Silent_p.R51R			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	51					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGACCTGCGGAGCGCAACGA	0.756000										HNSCC(44;0.11)			7	1					0	0	1	0	0
CARD8	22900	broad.mit.edu	37	19	48734962	48734962	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:48734962C>T	ENST00000391898.3	-	5	539	c.497G>A	c.(496-498)gGa>gAa	p.G166E	CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000447740.2_Missense_Mutation_p.G116E|CARD8_ENST00000520015.1_Missense_Mutation_p.G166E|CARD8_ENST00000519940.1_Missense_Mutation_p.G166E|CARD8_ENST00000521613.1_Missense_Mutation_p.G116E|CARD8_ENST00000520153.1_Missense_Mutation_p.G116E|CARD8_ENST00000520753.1_Missense_Mutation_p.G166E|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000359009.4_Missense_Mutation_p.G61E	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	61					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		ATCCACATTTCCTTCAGGCCC	0.363000													52	55					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46863537	46863537	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:46863537C>T	ENST00000393382.3	-	12	1891	c.1750G>A	c.(1750-1752)Gcc>Acc	p.A584T	TTLL6_ENST00000433608.2_Missense_Mutation_p.A277T	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	536						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGTTTGGAGGCTTGGGTGGCG	0.587000													231	305					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420645	53420645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:53420645C>A	ENST00000377942.3	-	1	2130	c.1927G>T	c.(1927-1929)Gag>Tag	p.E643*	PCDH8_ENST00000338862.4_Nonsense_Mutation_p.E643*	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	643	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTGGCTCCCTCGTCTGCATCC	0.706000													11	13					2.32078e-09	2.43532e-09	1	1	0
ADAM22	53616	broad.mit.edu	37	7	87760697	87760697	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:87760697G>C	ENST00000398204.4	+	11	1262	c.939G>C	c.(937-939)atG>atC	p.M313I	ADAM22_ENST00000265727.7_Missense_Mutation_p.M313I|ADAM22_ENST00000398209.3_Missense_Mutation_p.M313I|ADAM22_ENST00000315984.7_Missense_Mutation_p.M313I|ADAM22_ENST00000398201.4_Missense_Mutation_p.M313I|ADAM22_ENST00000439864.1_Missense_Mutation_p.M313I	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	313	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	p.M313I(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTGAGTTTATGAAATACAGGA	0.363000													3	88					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33402582	33402582	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:33402582C>T	ENST00000358763.2	-	2	308	c.66G>A	c.(64-66)atG>atA	p.M22I	SYN3_ENST00000332840.5_Missense_Mutation_p.M22I	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	22	A.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCAGGTCCGTCATATAGCCAT	0.607000											OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	74	19					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131307298	131307298	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:131307298G>A	ENST00000379264.2	-	14	1487	c.1379C>T	c.(1378-1380)gCa>gTa	p.A460V	ACSL6_ENST00000379272.2_Missense_Mutation_p.A450V|ACSL6_ENST00000379249.3_Missense_Mutation_p.A435V|ACSL6_ENST00000296869.4_Missense_Mutation_p.A460V|ACSL6_ENST00000379244.1_Missense_Mutation_p.A435V|ACSL6_ENST00000357096.1_Missense_Mutation_p.A360V|ACSL6_ENST00000379246.1_Missense_Mutation_p.A446V|ACSL6_ENST00000544770.1_Missense_Mutation_p.A344V|ACSL6_ENST00000379255.1_Missense_Mutation_p.A360V|ACSL6_ENST00000379240.1_Missense_Mutation_p.A435V|ACSL6_ENST00000543479.1_Missense_Mutation_p.A435V|ACSL6_ENST00000431707.1_Missense_Mutation_p.A415V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	435					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTGGGGCTGCTCCAGTAAC	0.522000													19	3					0	0	1	0	0
MALSU1	115416	broad.mit.edu	37	7	23340550	23340550	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:23340550G>C	ENST00000466681.1	+	2	502	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q		NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	117						mitochondrion											GGTTCCTCCAGAAATGAGATA	0.408000													112	133					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24906761	24906761	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:24906761G>C	ENST00000413389.2	+	4	1798	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	UPB1_ENST00000326010.5_Missense_Mutation_p.E137Q			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	137					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TCCTTGGACAGAATTTGCTGA	0.502000													17	55					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130280190	130280190	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:130280190G>C	ENST00000373312.3	-	6	833	c.620C>G	c.(619-621)cCt>cGt	p.P207R	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.P194R	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	207							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGTGAACGCAGGGCCCTCTAC	0.612000													21	17					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671602	84671602	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:84671602C>G	ENST00000284136.6	-	8	905		c.e8-1			NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTACATCATTCTGACATGAAA	0.373000													86	97					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70818248	70818248	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:70818248G>C	ENST00000358731.4	+	23	5387	c.5124G>C	c.(5122-5124)caG>caC	p.Q1708H	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1708					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAACAGATCAGAGCAAGGAAG	0.388000													15	98					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32156277	32156277	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:32156277G>A	ENST00000375050.4	-	3	570	c.300C>T	c.(298-300)ctC>ctT	p.L100L		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	100							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCCGAATGCTGAGGCCTAGCA	0.617000													25	5					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697396	111697396	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:111697396G>C	ENST00000435970.1	-	15	2744	c.1928C>G	c.(1927-1929)tCt>tGt	p.S643C	REV3L_ENST00000358835.3_Missense_Mutation_p.S721C|REV3L_ENST00000368802.3_Missense_Mutation_p.S721C|REV3L_ENST00000368805.1_Missense_Mutation_p.S721C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	721					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATTTCCTTCAGAGGATACTTT	0.353000								DNA polymerases (catalytic subunits)					50	7					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874032	36874032	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:36874032C>G	ENST00000429976.2	-	21	7157	c.6910G>C	c.(6910-6912)Gaa>Caa	p.E2304Q	TRANK1_ENST00000428977.2_Missense_Mutation_p.E1754Q|TRANK1_ENST00000301807.6_Missense_Mutation_p.E1754Q	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2304					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCAGCTTTTCAAACTCCTCC	0.522000													35	33					0	0	1	0	0
TPRG1L	127262	broad.mit.edu	37	1	3544178	3544178	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:3544178G>A	ENST00000378344.2	+	4	656	c.585G>A	c.(583-585)ccG>ccA	p.P195P	TPRG1L_ENST00000344579.5_Silent_p.P136P	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	195						cell junction|synaptic vesicle		p.P195P(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CAGAACACCCGATGGCTGGCG	0.532000													17	161					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207112588	207112588	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:207112588C>T	ENST00000356495.4	-	3	447	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	88	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding	p.P88P(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCCGTTCTCCGGGAAGTTGG	0.592000													4	91					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37960519	37960519	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:37960519C>T	ENST00000559325.1	+	1	357	c.338C>T	c.(337-339)tCg>tTg	p.S113L	EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_5'UTR			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GGCTTGCCCTCGGGCCGGGGA	0.736000													12	11					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129790591	129790591	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:129790591C>G	ENST00000338144.3	-	11	1597	c.1180G>C	c.(1180-1182)Gaa>Caa	p.E394Q	ENOX2_ENST00000370927.1_Missense_Mutation_p.E394Q|ENOX2_ENST00000370935.1_Missense_Mutation_p.E365Q|ENOX2_ENST00000394363.1_Missense_Mutation_p.E365Q	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	394					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GTCATTTCTTCTATTTCATCA	0.299000													46	4					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94543416	94543416	+	Silent	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:94543416C>G	ENST00000258526.4	+	1	918	c.669C>G	c.(667-669)ctC>ctG	p.L223L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	223	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGGGGCGCCTCAAGCTGTGCG	0.687000													3	3					0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49255156	49255156	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:49255156G>T	ENST00000332408.4	-	1	485	c.57C>A	c.(55-57)ttC>ttA	p.F19L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	19	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CGGGGTGCCCGAAGAGTCCTA	0.592000													81	27					4.85316e-53	5.31349e-53	1	1	0
APLP2	334	broad.mit.edu	37	11	130003611	130003611	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:130003611C>G	ENST00000263574.5	+	12	1744	c.1672C>G	c.(1672-1674)Caa>Gaa	p.Q558E	APLP2_ENST00000278756.7_Missense_Mutation_p.Q568E|APLP2_ENST00000338167.5_Missense_Mutation_p.Q558E|APLP2_ENST00000528499.1_Missense_Mutation_p.Q502E|APLP2_ENST00000543137.1_Missense_Mutation_p.Q465E|APLP2_ENST00000345598.5_Missense_Mutation_p.Q329E|APLP2_ENST00000539648.1_Missense_Mutation_p.Q346E	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	558					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCAAGAAATTCAAGAGGAAAT	0.478000													4	78					0	0	1	0	0
ITM2B	9445	broad.mit.edu	37	13	48832951	48832951	+	Missense_Mutation	SNP	C	C	G	rs11556901		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:48832951C>G	ENST00000378565.5	+	5	786	c.583C>G	c.(583-585)Cag>Gag	p.Q195E	ITM2B_ENST00000378549.5_Missense_Mutation_p.Q89E	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	195	BRICHOS.				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTATTTGCCTCAGTCCTATCT	0.373000													5	61					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699831	151699831	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:151699831G>A	ENST00000392800.2	+	6	945	c.691G>A	c.(691-693)Gag>Aag	p.E231K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.E231K|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	231	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CAGCCACTGTGAGGTGAACAG	0.502000													36	39					0	0	1	0	0
ZNF689	115509	broad.mit.edu	37	16	30616005	30616005	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:30616005G>C	ENST00000287461.3	-	3	1420	c.1083C>G	c.(1081-1083)ctC>ctG	p.L361L	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GCTGGTGCTGGAGCAGCGTGC	0.687000													2	9					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790271	4790271	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:4790271T>C	ENST00000380383.1	-	1	897	c.898A>G	c.(898-900)Atc>Gtc	p.I300V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.I293V			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	293						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACACTGTCGATGATGGGGTTG	0.448000													56	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612864	179612864	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179612864G>C	ENST00000360870.5	-	46	14485	c.14263C>G	c.(14263-14265)Cta>Gta	p.L4755V	TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	867							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTTCTAGAGGACAACTT	0.388000													17	28					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	700002	700002	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:700002G>A	ENST00000549091.1	+	3	206	c.114G>A	c.(112-114)ctG>ctA	p.L38L	WDR90_ENST00000293879.4_Silent_p.L38L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	38										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACAAGACCCTGAAGGGCGCCG	0.667000													11	53					0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11833886	11833886	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:11833886C>G	ENST00000341191.6	-	4	616	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	ZNF823_ENST00000545749.1_5'UTR	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						GGGGGCCTTTCATGTGTCTGG	0.468000										HNSCC(68;0.2)			13	68					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67323532	67323532	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:67323532C>G	ENST00000304372.5	-	16	2776	c.2721G>C	c.(2719-2721)caG>caC	p.Q907H		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	907						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACAGGCCCCTCTGGATGAGCA	0.562000													60	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438342	179438342	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179438342C>G	ENST00000589042.1	-	326	72741	c.72517G>C	c.(72517-72519)Gta>Cta	p.V24173L	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21605L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V22532L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V15108L|TTN_ENST00000359218.5_Missense_Mutation_p.V15233L|TTN_ENST00000342175.6_Missense_Mutation_p.V15300L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22532	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGAGGCTACATTTGTCCAT	0.413000													11	398					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113341490	113341490	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:113341490C>G	ENST00000401783.2	-	1	670	c.334G>C	c.(334-336)Gac>Cac	p.D112H	SVEP1_ENST00000374469.1_Missense_Mutation_p.D89H|SVEP1_ENST00000302728.8_Missense_Mutation_p.D112H|SVEP1_ENST00000374461.1_Missense_Mutation_p.D89H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	112	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACGGGGAAGTCGGACAGCAGC	0.642000													2	1					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106158415	106158415	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:106158415G>C	ENST00000540549.1	+	3	4176	c.3316G>C	c.(3316-3318)Gag>Cag	p.E1106Q	TET2_ENST00000513237.1_Missense_Mutation_p.E1127Q|TET2_ENST00000413648.2_Missense_Mutation_p.E1106Q|TET2_ENST00000394764.1_Missense_Mutation_p.E1106Q|TET2_ENST00000545826.1_Missense_Mutation_p.E1106Q|TET2_ENST00000305737.2_Missense_Mutation_p.E1106Q|TET2_ENST00000380013.4_Missense_Mutation_p.E1106Q			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1106					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TAATTTTATAGAGTCACCTTC	0.373000			"""Mis N, F"""		MDS								35	45					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36695058	36695058	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36695058C>T	ENST00000216181.5	-	24	3237	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1003					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GTGGTGAACTCAGCTATTCTG	0.498000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				60	18					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129785719	129785719	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:129785719G>C	ENST00000358825.5	-	17	2605	c.2374C>G	c.(2374-2376)Ctg>Gtg	p.L792V	PRDM10_ENST00000360871.3_Missense_Mutation_p.L788V|PRDM10_ENST00000526082.1_Missense_Mutation_p.L706V|PRDM10_ENST00000304538.6_Missense_Mutation_p.L702V|PRDM10_ENST00000528746.1_Missense_Mutation_p.L762V|PRDM10_ENST00000423662.2_Missense_Mutation_p.L706V	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	792					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGGTTCTTCAGAATGTGGGCT	0.532000													6	123					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697267	111697267	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:111697267G>T	ENST00000435970.1	-	15	2873	c.2057C>A	c.(2056-2058)gCt>gAt	p.A686D	REV3L_ENST00000358835.3_Missense_Mutation_p.A764D|REV3L_ENST00000368802.3_Missense_Mutation_p.A764D|REV3L_ENST00000368805.1_Missense_Mutation_p.A764D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	764					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ACTTTCATCAGCAGTGCTATT	0.368000								DNA polymerases (catalytic subunits)					96	17					1.14069e-49	1.24551e-49	1	1	0
RFTN1	23180	broad.mit.edu	37	3	16475483	16475483	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:16475483G>A	ENST00000334133.4	-	3	479	c.207C>T	c.(205-207)ctC>ctT	p.L69L	RFTN1_ENST00000432519.1_Silent_p.L33L	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	69						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ACAGCTCCAGGAGCTGGGCGG	0.652000													23	30					0	0	1	0	0
SAP30BP	29115	broad.mit.edu	37	17	73695932	73695932	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:73695932G>C	ENST00000584667.1	+	5	634	c.377G>C	c.(376-378)aGa>aCa	p.R126T	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.R110T	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	126					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCCTGGCAGATGTTCAAAT	0.453000													53	152					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37587411	37587411	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:37587411C>G	ENST00000300651.6	-	9	829	c.606G>C	c.(604-606)aaG>aaC	p.K202N	MED1_ENST00000394287.3_Missense_Mutation_p.K202N	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	202	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CATGAAGAATCTTATCCAAGG	0.393000										HNSCC(31;0.082)			83	114					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750463	140750463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:140750463C>T	ENST00000576222.1	+	1	633	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATTCGCTGCAGCAGTACTA	0.512000													9	214					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183713719	183713719	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:183713719G>A	ENST00000511685.1	+	26	6017	c.5894G>A	c.(5893-5895)aGa>aAa	p.R1965K	TENM3_ENST00000406950.2_Missense_Mutation_p.R1965K					teneurin transmembrane protein 3																		GATAGCACAAGAGTCAGTTTT	0.418000													57	47					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266095	65266095	+	RNA	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:65266095C>T	ENST00000534336.1	+	0	863					NR_002819.2																						GGCTGGGGCTCAGTTGCGTAA	0.493000													5	66					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186326652	186326652	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:186326652G>A	ENST00000367478.4	-	14	1897	c.1601C>T	c.(1600-1602)tCa>tTa	p.S534L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TAGATGCTGTGATATTACCTC	0.403000			T	NTRK1	papillary thyroid								44	83					0	0	1	0	0
QPCTL	54814	broad.mit.edu	37	19	46206179	46206179	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:46206179C>G	ENST00000012049.5	+	7	1242	c.1021C>G	c.(1021-1023)Ctc>Gtc	p.L341V	QPCTL_ENST00000366382.4_Missense_Mutation_p.L247V	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	341					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CGTGCTCCATCTCATCTCCAC	0.597000													86	125					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156289749	156289749	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:156289749G>C	ENST00000311277.4	-	5	960	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	MAP9_ENST00000379248.2_Missense_Mutation_p.L160V|AC097467.2_ENST00000597831.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.L233V|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	233					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCAGGATCAAGGTTTTCAGAG	0.378000													22	35					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34042907	34042907	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:34042907G>A	ENST00000373381.4	-	49	7741	c.7565C>T	c.(7564-7566)cCt>cTt	p.P2522L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2524	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGACAGAGAGGGATGGCTTC	0.577000													47	61					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29857477	29857477	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:29857477C>T	ENST00000325874.8	+	14	2016	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.S494L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	596	FIP-RBD.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GACACCGCCTCGCGCGATGAG	0.582000													67	61					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109026163	109026163	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:109026163C>G	ENST00000261483.4	+	1	1097	c.45C>G	c.(43-45)ttC>ttG	p.F15L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	15					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GTGCGATCTTCTGTGTGGTGA	0.582000													15	5					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131023520	131023520	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131023520C>T	ENST00000421699.2	-	16	1282	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E412K	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	424						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CATTCCTTCTCCTCTCTCAAT	0.607000													16	160					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12491411	12491411	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:12491411C>T	ENST00000535902.1	-	3	870	c.307G>A	c.(307-309)Gag>Aag	p.E103K	MANSC1_ENST00000545735.1_Missense_Mutation_p.E22K|MANSC1_ENST00000396349.3_Missense_Mutation_p.E69K			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	103	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CAGGCTTCCTCGTTGGGACAG	0.383000													5	159					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	434934	434934	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:434934G>C	ENST00000432829.2	+	39	5150	c.4834G>C	c.(4834-4836)Gag>Cag	p.E1612Q	DOCK8_ENST00000382329.1_Missense_Mutation_p.E1147Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.E1680Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1580Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1680	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCATGCTGGAGGACCACAG	0.567000													14	46					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9863321	9863321	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:9863321C>T	ENST00000380913.3	+	4	1463	c.1373C>T	c.(1372-1374)cCt>cTt	p.P458L		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	458					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GACAGCCCTCCTCAGGTGAGG	0.677000													6	26					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													11	18					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36695028	36695028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36695028C>A	ENST00000216181.5	-	24	3267	c.3037G>T	c.(3037-3039)Gag>Tag	p.E1013*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1013					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTAGATTTCTCCTCCTCTTCT	0.527000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				44	14					3.61183e-13	3.85007e-13	1	1	0
FCAR	2204	broad.mit.edu	37	19	55401023	55401023	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:55401023C>A	ENST00000355524.3	+	5	668	c.658C>A	c.(658-660)Cac>Aac	p.H220N	FCAR_ENST00000391723.3_Missense_Mutation_p.P183Q|FCAR_ENST00000391725.3_Missense_Mutation_p.H198N|FCAR_ENST00000391724.3_Missense_Mutation_p.H186N|FCAR_ENST00000345937.4_Missense_Mutation_p.H124N|FCAR_ENST00000359272.4_Missense_Mutation_p.H208N|FCAR_ENST00000391726.3_Missense_Mutation_p.H112N|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Missense_Mutation_p.H111N	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	220					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AGACTCCATCCACCAAGATTA	0.517000													54	608					3.94839e-29	4.25373e-29	1	1	0
WDR49	151790	broad.mit.edu	37	3	167248966	167248966	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:167248966C>T	ENST00000308378.3	-	9	1404	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	WDR49_ENST00000453925.2_Missense_Mutation_p.E431K|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.E192K	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	367										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTTTTGCCCTCAGTGTCAATC	0.408000													6	112					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104487163	104487163	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:104487163G>A	ENST00000229330.4	+	10	1388		c.e10-1		HCFC2_ENST00000550335.1_Splice_Site	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2						regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTCTTGTAGATCAATGATA	0.279000													7	49					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131348070	131348070	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:131348070G>A	ENST00000372739.3	+	19	2714	c.2604G>A	c.(2602-2604)ctG>ctA	p.L868L	SPTAN1_ENST00000372731.4_Silent_p.L868L|SPTAN1_ENST00000358161.5_Silent_p.L868L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	868					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTCACGAGCTGAACCAAAAGT	0.527000													28	61					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172229441	172229441	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:172229441C>G	ENST00000241261.2	-	3	401	c.279G>C	c.(277-279)ttG>ttC	p.L93F	TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	93					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGAGGTTCTCAAAATCATCT	0.313000													22	14					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642324	129642324	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:129642324G>C	ENST00000319119.4	+	2	731	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	ZBTB34_ENST00000373452.2_Missense_Mutation_p.E212Q	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						TTCTGAATATGAGATTCAGAT	0.577000													6	45					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75849105	75849105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:75849105C>T	ENST00000211998.4	+	9	1268	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Nonsense_Mutation_p.Q392*	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	392	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CGATGCTGCTCAGGTAGTCAC	0.423000													35	8					0	0	1	0	0
KRBOX4	55634	broad.mit.edu	37	X	46332193	46332193	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:46332193C>A	ENST00000344302.4	+	6	893	c.262C>A	c.(262-264)Caa>Aaa	p.Q88K	KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000298190.6_Missense_Mutation_p.Q83K	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2			KRAB box domain containing 4																		AGAAGTCTGGCAAGTTGATGA	0.393000													3	75					0.014758	0.0149429	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89259649	89259649	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:89259649G>A	ENST00000336596.2	+	3	1018	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	EPHA3_ENST00000452448.2_Missense_Mutation_p.E265K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E265K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	265	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGCTATGAAGAAAGAGGTTT	0.403000										TSP Lung(6;0.00050)			112	147					0	0	1	0	0
UAP1L1	91373	broad.mit.edu	37	9	139973451	139973451	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:139973451G>A	ENST00000409858.3	+	4	726	c.694G>A	c.(694-696)Gcg>Acg	p.A232T	UAP1L1_ENST00000476184.1_3'UTR|UAP1L1_ENST00000360271.3_Missense_Mutation_p.A109T	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	232							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCTCTACTGCGCGCTGGAGGA	0.652000													37	36					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990291	39990291	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:39990291G>C	ENST00000332312.3	-	4	2110	c.1918C>G	c.(1918-1920)Caa>Gaa	p.Q640E		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	640						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTGGAGCCTTGGCTGCTGACC	0.632000													3	34					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906857	158906857	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:158906857G>T	ENST00000368140.1	+	2	402	c.157G>T	c.(157-159)Gag>Tag	p.E53*	PYHIN1_ENST00000392254.2_Nonsense_Mutation_p.E53*|PYHIN1_ENST00000392252.3_Nonsense_Mutation_p.E53*|PYHIN1_ENST00000368135.4_Nonsense_Mutation_p.E53*|PYHIN1_ENST00000368138.3_Nonsense_Mutation_p.E53*	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	53	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TGACTTGATGGAGGAAAAGTT	0.343000													4	104					0.217242	0.219415	1	1	0
USP28	57646	broad.mit.edu	37	11	113672370	113672370	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:113672370C>T	ENST00000003302.4	-	24	2961	c.2893G>A	c.(2893-2895)Gaa>Aaa	p.E965K	USP28_ENST00000260188.5_Missense_Mutation_p.E933K|USP28_ENST00000544967.1_Missense_Mutation_p.E641K|USP28_ENST00000545540.1_Missense_Mutation_p.E808K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	965					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E965K(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCATTTGTTTCAAAAAGAGAA	0.363000													20	34					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677318	55677318	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:55677318C>T	ENST00000527223.2	-	3	341	c.340G>A	c.(340-342)Gag>Aag	p.E114K	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.E93K|DNAAF3_ENST00000524407.2_Missense_Mutation_p.E46K	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	46																	ACATCTAGCTCGGGGTTGCTG	0.632000											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	36					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6732095	6732095	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:6732095C>T	ENST00000264080.7	-	13	1223	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	GPR108_ENST00000430424.4_Silent_p.K157K	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	399						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						ACAAAATCTCCTTCCACAGCA	0.652000													12	4					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160833209	160833209	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:160833209G>A	ENST00000283243.7	-	16	2630	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F	PLA2R1_ENST00000392771.1_Silent_p.F808F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	808					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACTGGTACCAGAACGGAATCT	0.353000													6	92					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38265848	38265848	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:38265848C>T	ENST00000373045.6	+	4	1728	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	MANEAL_ENST00000329006.5_Silent_p.I227I|MANEAL_ENST00000525897.1_Silent_p.I255I|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	449						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCACTTCATCAAAGAGAAGG	0.582000													35	59					0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111896985	111896985	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:111896985G>A	ENST00000280346.6	+	2	1002	c.343G>A	c.(343-345)Gag>Aag	p.E115K	DLAT_ENST00000393051.1_Missense_Mutation_p.E115K|DLAT_ENST00000537636.1_Missense_Mutation_p.E13K	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	115	Lipoyl-binding 1.				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GGAAAAAAAAGAGGGGGACAA	0.338000													5	19					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95418779	95418779	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:95418779C>T	ENST00000287996.3	-	3	460	c.184G>A	c.(184-186)Gtc>Atc	p.V62I		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	62					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						TCCTTCATGACATTTTTCCCA	0.433000													55	79					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36520721	36520721	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:36520721C>T	ENST00000373191.4	+	18	2798	c.2449C>T	c.(2449-2451)Cat>Tat	p.H817Y	AGO3_ENST00000471099.1_3'UTR|AGO3_ENST00000246314.6_Missense_Mutation_p.H583Y	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		AGCCAGATATCATCTTGTGGA	0.423000													3	11					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118485345	118485345	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:118485345C>T	ENST00000361417.2	+	4	543	c.132C>T	c.(130-132)agC>agT	p.S44S	PHLDB1_ENST00000356063.5_Silent_p.S44S	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	44										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCTGGTGAGCCTGGGCAGTG	0.572000													17	23					0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523483	42523483	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:42523483C>T	ENST00000360608.5	-	7	1253	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	CYP2D6_ENST00000389970.3_Missense_Mutation_p.R380H|CYP2D6_ENST00000359033.4_Missense_Mutation_p.R329H|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	380							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.R380H(1)|p.R329H(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCGATGTCACGGGATGTCAT	0.612000													3	32					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68260378	68260378	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:68260378C>G	ENST00000347230.4	-	14	2638	c.2500G>C	c.(2500-2502)Gag>Cag	p.E834Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E834Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	834					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCAGTGACTCAGGTGGGGAG	0.552000													44	24					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158061194	158061194	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:158061194G>A	ENST00000368172.1	+	7	773	c.761G>A	c.(760-762)cGc>cAc	p.R254H	KIRREL_ENST00000359209.6_Missense_Mutation_p.R440H|KIRREL_ENST00000416935.2_Missense_Mutation_p.R340H|KIRREL_ENST00000360089.4_Missense_Mutation_p.R276H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R337H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R456H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	440	Ig-like C2-type 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					ACCCTGGAACGCTATACAGTG	0.567000													41	120					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116398545	116398545	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:116398545C>G	ENST00000397752.3	+	9	2335	c.2135C>G	c.(2134-2136)cCa>cGa	p.P712R	MET_ENST00000318493.6_Missense_Mutation_p.P712R|MET_ENST00000436117.2_Missense_Mutation_p.P712R	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	712	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGTTATACCCCAGCCCAAACC	0.338000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				4	123					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112512548	112512548	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:112512548T>C	ENST00000261745.4	-	9	1045	c.797A>G	c.(796-798)tAt>tGt	p.Y266C		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	266						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATAAGTCAGATAGAACTGCCA	0.398000													72	106					0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123214255	123214255	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:123214255C>G	ENST00000432564.1	-	1	874	c.632G>C	c.(631-633)aGa>aCa	p.R211T	HCAR1_ENST00000356987.2_Missense_Mutation_p.R211T|HCAR1_ENST00000436083.2_Missense_Mutation_p.R211T	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	211					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CCGAGCCTGTCTGGCCAGCTG	0.527000													28	38					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3820785	3820785	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:3820785G>C	ENST00000262367.5	-	14	3475	c.2666C>G	c.(2665-2667)tCa>tGa	p.S889*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S851*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	889					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CACAGGAGTTGATGGCTGAGT	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						6	35					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39421292	39421292	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:39421292T>C	ENST00000221431.6	-	1	244	c.85A>G	c.(85-87)Agt>Ggt	p.S29G	MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.S29G|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.S29G	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	29					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCTTGGACTATCGTTGGAG	0.607000											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	88					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105377987	105377987	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:105377987C>T	ENST00000264122.4	-	19	3097	c.2776G>A	c.(2776-2778)Gag>Aag	p.E926K	CBLB_ENST00000407712.1_Missense_Mutation_p.E141K|CBLB_ENST00000394027.3_Missense_Mutation_p.E904K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	926	Interaction with SH3KBP1.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATGCCGCCTCAGGCCCATGG	0.493000			Mis S		AML								9	115					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22063765	22063765	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:22063765G>C	ENST00000261200.4	-	7	1158	c.1159C>G	c.(1159-1161)Ctg>Gtg	p.L387V	ABCC9_ENST00000261201.4_Missense_Mutation_p.L387V|ABCC9_ENST00000345162.2_Missense_Mutation_p.L387V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	387	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATACCAGCAGAGCTCCACGG	0.393000													7	105					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36700183	36700183	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:36700183C>G	ENST00000216181.5	-	19	2478	c.2248G>C	c.(2248-2250)Gac>Cac	p.D750H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	750	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGATTGCTGTCGAGCTCCAGG	0.597000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				34	7					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065965	23065965	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:23065965G>T	ENST00000246006.4	-	1	1012	c.865C>A	c.(865-867)Cca>Aca	p.P289T		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	289	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGGAATCCTGGTCGGCAGCCG	0.637000													18	258					8.34094e-07	8.5744e-07	1	1	0
PANK3	79646	broad.mit.edu	37	5	167991021	167991021	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:167991021C>T	ENST00000239231.6	-	4	1001	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	229					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TCAAAACTTTCACAGCCAGTC	0.383000													25	173					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105191938	105191938	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:105191938G>A	ENST00000369797.3	+	22	3515	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1141					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAGCCCCATGGAGAAGATTAA	0.438000													17	69					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28972175	28972175	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:28972175A>G	ENST00000359747.4	+	8	906	c.877A>G	c.(877-879)Att>Gtt	p.I293V	DSG4_ENST00000308128.4_Missense_Mutation_p.I293V|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	293	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTACAAGCAATTGATCTTGA	0.343000													9	54					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159897219	159897219	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:159897219G>A	ENST00000368094.1	-	21	3653	c.3456C>T	c.(3454-3456)ttC>ttT	p.F1152F	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.F1136F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1152						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCGGCGGCGGAAGGCCAGGA	0.632000													46	106					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409658	159409658	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:159409658C>T	ENST00000423932.3	+	1	147	c.110C>T	c.(109-111)aCc>aTc	p.T37I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	37					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAGCAGATCACCCTTTTTGGC	0.418000													177	124					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038153	62038153	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:62038153G>C	ENST00000354587.3	-	17	2663	c.2487C>G	c.(2485-2487)taC>taG	p.Y829*	KCNQ2_ENST00000359125.2_Nonsense_Mutation_p.Y821*|KCNQ2_ENST00000370224.1_Nonsense_Mutation_p.Y829*|KCNQ2_ENST00000344462.4_Nonsense_Mutation_p.Y790*|KCNQ2_ENST00000357249.2_Nonsense_Mutation_p.Y803*|KCNQ2_ENST00000359689.1_Nonsense_Mutation_p.Y821*|KCNQ2_ENST00000360480.3_Nonsense_Mutation_p.Y793*			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	821					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCACGGCCGCGTAGCAGCTGT	0.642000													15	10					0	0	1	0	0
PSMD12	5718	broad.mit.edu	37	17	65340791	65340791	+	Silent	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:65340791C>A	ENST00000356126.3	-	9	1121	c.1014G>T	c.(1012-1014)acG>acT	p.T338T	PSMD12_ENST00000357146.4_Silent_p.T318T	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	338	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					CAAAAACATCCGTTGCAGGAC	0.383000													3	66					1	1	1	1	0
ADAR	103	broad.mit.edu	37	1	154557296	154557296	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:154557296G>C	ENST00000368474.4	-	15	3866	c.3667C>G	c.(3667-3669)Ctc>Gtc	p.L1223V	ADAR_ENST00000368471.3_Missense_Mutation_p.L928V|ADAR_ENST00000292205.5_Missense_Mutation_p.L1266V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1223					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ACTGGGCAGAGATAAAAGTTC	0.483000													71	190					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	91972349	91972349	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:91972349G>C	ENST00000265742.3	+	6	1175	c.799G>C	c.(799-801)Gag>Cag	p.E267Q		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	267							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGGGACAGGGAGAAATTACT	0.383000													10	155					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110710590	110710590	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:110710590C>T	ENST00000282356.4	+	3	681	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	CAMK4_ENST00000512453.1_Missense_Mutation_p.R95C	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	95	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.R95C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGTTCTTCTTCGCCTCTCACA	0.393000													9	33					0	0	1	0	0
SAP30BP	29115	broad.mit.edu	37	17	73695901	73695901	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:73695901G>A	ENST00000584667.1	+	5	603	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.E100K	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	116					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCGCCTGATGAAATCAAGAT	0.473000													73	175					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112298569	112298569	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:112298569C>T	ENST00000369702.4	+	1	643	c.23C>T	c.(22-24)tCg>tTg	p.S8L	DDX20_ENST00000536167.1_Missense_Mutation_p.S8L	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	8					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGAAGCCTCGGGAGCCTTA	0.632000													13	29					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697611	111697611	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:111697611G>A	ENST00000435970.1	-	15	2529	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	REV3L_ENST00000358835.3_Silent_p.I649I|REV3L_ENST00000368802.3_Silent_p.I649I|REV3L_ENST00000368805.1_Silent_p.I649I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	649					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATACTGGGAGGATCTCTTTCT	0.313000								DNA polymerases (catalytic subunits)					23	2					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	C	rs28392876	by1000genomes	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:16946438G>C	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													3	33					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420766	53420766	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:53420766C>G	ENST00000377942.3	-	1	2009	c.1806G>C	c.(1804-1806)caG>caC	p.Q602H	PCDH8_ENST00000338862.4_Missense_Mutation_p.Q602H	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	602	Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CATGGTCGTTCTGGTCCAGCA	0.662000													5	10					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062300	194062300	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:194062300C>T	ENST00000323830.3	-	2	1221	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	CPN2_ENST00000429275.1_Missense_Mutation_p.E378K	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	378					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGATGCCCTCCGGAAGTGTG	0.602000													52	76					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50531017	50531017	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:50531017G>A	ENST00000444124.2	-	14	1555	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	DDC_ENST00000357936.5_Missense_Mutation_p.S452F|DDC_ENST00000426377.1_Missense_Mutation_p.S374F|DDC_ENST00000431062.1_Missense_Mutation_p.S359F	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	452					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CACCGTGCGAGAACAGATGGC	0.537000													30	30					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28276464	28276464	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:28276464G>C	ENST00000305242.5	-	3	325	c.233C>G	c.(232-234)aCa>aGa	p.T78R		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	78							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGATTTGACTGTTGTTTCACt	0.318000													8	22					0	0	1	0	0
C2orf27B	408029	broad.mit.edu	37	2	132558472	132558472	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:132558472C>G	ENST00000303798.2	-	2	531	c.39G>C	c.(37-39)gaG>gaC	p.E13D		NM_214461.1	NP_999626.1	Q580R0	CB027_HUMAN	chromosome 2 open reading frame 27B	0										NS(1)	1						TACCTAGTGTCTCTGGCCCCT	0.607000													13	147					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36520571	36520571	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:36520571C>T	ENST00000373191.4	+	18	2648	c.2299C>T	c.(2299-2301)Cat>Tat	p.H767Y	AGO3_ENST00000471099.1_3'UTR|AGO3_ENST00000246314.6_Missense_Mutation_p.H533Y	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		TTCACACTATCATGTTTTATG	0.388000													46	84					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31602332	31602332	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:31602332G>C	ENST00000376033.2	+	20	5167	c.4933G>C	c.(4933-4935)Gaa>Caa	p.E1645Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1645Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1645	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGCTGGCACAGAAGTGAGTGA	0.582000													20	3					0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41657646	41657646	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:41657646G>C	ENST00000260359.6	+	7	926	c.662G>C	c.(661-663)aGa>aCa	p.R221T	NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450318.1_Missense_Mutation_p.R236T|NUSAP1_ENST00000414849.2_Missense_Mutation_p.R235T|NUSAP1_ENST00000560177.1_Missense_Mutation_p.R235T|NUSAP1_ENST00000450592.2_Missense_Mutation_p.R212T|NUSAP1_ENST00000560747.1_Missense_Mutation_p.R234T|NUSAP1_ENST00000559596.1_Missense_Mutation_p.R236T	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	236					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GTACCTCCAAGAGGAAGACTC	0.532000													6	6					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6196893	6196893	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:6196893G>C	ENST00000262450.3	-	16	2568	c.2469C>G	c.(2467-2469)ctC>ctG	p.L823L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	823	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CATAGGAGGTGAGCAGCACGT	0.567000													28	41					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120906763	120906763	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:120906763C>T	ENST00000310396.5	+	20	3001	c.2534C>T	c.(2533-2535)tCa>tTa	p.S845L		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AATTTCAGATCACGTCCCCTA	0.403000													5	87					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953734	56953734	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:56953734A>T	ENST00000504904.3	-	7	1349	c.630T>A	c.(628-630)aaT>aaA	p.N210K	ZNF667_ENST00000342634.3_Missense_Mutation_p.N338K|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.N210K			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTGTTCTTTGATTGAAGCTTT	0.378000													17	152					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38988357	38988357	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:38988357G>A	ENST00000302328.3	-	2	507	c.309C>T	c.(307-309)ttC>ttT	p.F103F	SCN11A_ENST00000444237.2_Silent_p.F103F|SCN11A_ENST00000456224.3_Silent_p.F103F|SCN11A_ENST00000450244.1_Silent_p.F103F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	103					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCTTGGCACTGAAGCGGTAGA	0.363000													26	56					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35555321	35555321	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35555321G>A	ENST00000455600.1	+	3	2848	c.2279G>A	c.(2278-2280)aGa>aAa	p.R760K		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	760						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCCACTGGCAGAGGTGCCAGG	0.667000													56	59					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122672000	122672000	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:122672000G>C	ENST00000284273.5	+	11	1930	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	519	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ACCTCCATCAGAGTTAGCTGC	0.488000													16	206					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42284923	42284923	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:42284923C>T	ENST00000302904.4	-	20	2560	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	UBTF_ENST00000527034.1_Silent_p.T651T|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.E653K|UBTF_ENST00000436088.1_Missense_Mutation_p.E690K|UBTF_ENST00000393606.3_Missense_Mutation_p.E653K|UBTF_ENST00000343638.5_Missense_Mutation_p.E653K|UBTF_ENST00000526094.1_Missense_Mutation_p.E653K|UBTF_ENST00000529383.1_Missense_Mutation_p.E690K			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	690	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		tcttcatcctcgtcctcgtca	0.567000													16	26					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124048774	124048774	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:124048774G>T	ENST00000360013.3	+	8	1472	c.1345G>T	c.(1345-1347)Gac>Tac	p.D449Y	KALRN_ENST00000460856.1_Missense_Mutation_p.D449Y|KALRN_ENST00000240874.3_Missense_Mutation_p.D449Y	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	449					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGAGATGCAAGACCTAGAGCT	0.572000													15	117					0.00074312	0.000756223	1	1	0
TPTE	7179	broad.mit.edu	37	21	10951278	10951278	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr21:10951278A>G	ENST00000298232.7	-	9	747	c.380T>C	c.(379-381)gTa>gCa	p.V127A	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.V145A|TPTE_ENST00000342420.5_Missense_Mutation_p.V107A	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	145					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTCTACAAATACTCGAAGAAG	0.353000													11	124					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60909254	60909254	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:60909254C>T	ENST00000252999.3	-	22	2793	c.2727G>A	c.(2725-2727)atG>atA	p.M909I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	909	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACAGGTGCCATCTGCGCGT	0.672000													32	21					0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198358053	198358053	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:198358053C>G	ENST00000388968.3	-	7	1131	c.864G>C	c.(862-864)ttG>ttC	p.L288F	HSPD1_ENST00000345042.2_Missense_Mutation_p.L288F	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	288					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ATTACCTATTCAAGACGAGTG	0.393000													13	184					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44926861	44926861	+	Missense_Mutation	SNP	G	G	A	rs141141838		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:44926861G>A	ENST00000296125.4	+	2	132	c.64G>A	c.(64-66)Gtt>Att	p.V22I		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	22					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGACAACGCCGTTTCTCACCA	0.517000													12	32					0	0	1	0	0
MOK	5891	broad.mit.edu	37	14	102718331	102718331	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:102718331C>G	ENST00000361847.2	-	5	516	c.285G>C	c.(283-285)ggG>ggC	p.G95G	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Splice_Site_p.G95G|MOK_ENST00000524214.1_Splice_Site_p.G65G	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	95	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										GGTATCTTCTCCCTGTACAAT	0.318000													5	71					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179319144	179319144	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:179319144C>T	ENST00000409117.3	+	3	653	c.297C>T	c.(295-297)gaC>gaT	p.D99D	DFNB59_ENST00000375129.4_Silent_p.D99D	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	99					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTGTAAATGACGTTGGGATTA	0.338000													6	119					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58144834	58144834	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:58144834G>C	ENST00000257904.6	-	4	759	c.394C>G	c.(394-396)Cat>Gat	p.H132D	CDK4_ENST00000540325.1_Missense_Mutation_p.H12D|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	132	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAATTGGCATGAAGGAAATCT	0.488000			Mis			melanoma			Hereditary Melanoma				6	75					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89361189	89361189	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:89361189G>C	ENST00000380265.5	+	20	2794	c.2611G>C	c.(2611-2613)Gac>Cac	p.D871H	HERC6_ENST00000264346.7_Missense_Mutation_p.D907H	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	907	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TACTGATTATGACTGGAAACA	0.378000													22	31					0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43296669	43296669	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:43296669G>A	ENST00000328249.3	+	1	1084	c.46G>A	c.(46-48)Gag>Aag	p.E16K	ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372517.2_Missense_Mutation_p.E106K|ERMAP_ENST00000372514.3_Missense_Mutation_p.E106K			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	106						integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGATGCCCAAGAGGGAAGTGT	0.532000													5	67					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72368385	72368385	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:72368385G>A	ENST00000335666.4	+	4	1083	c.1035G>A	c.(1033-1035)cgG>cgA	p.R345R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	345						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGAGGGGCCGGAGTGGGCTGC	0.627000													27	33					0	0	1	0	0
PSEN1	5663	broad.mit.edu	37	14	73637508	73637508	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:73637508G>A	ENST00000324501.5	+	4	363	c.91G>A	c.(91-93)Gac>Aac	p.D31N	PSEN1_ENST00000344094.3_Missense_Mutation_p.D31N|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000557511.1_Missense_Mutation_p.D31N|PSEN1_ENST00000394157.3_Missense_Mutation_p.D31N|PSEN1_ENST00000394164.1_Missense_Mutation_p.D27N|PSEN1_ENST00000357710.4_Missense_Mutation_p.D27N|PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000261970.3_Missense_Mutation_p.D31N	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	31					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTTATAGAATGACAATAGAGA	0.483000													4	39					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050083	110050083	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:110050083C>T	ENST00000369864.4	-	2	1801	c.1452G>A	c.(1450-1452)tcG>tcA	p.S484S	AMIGO1_ENST00000369862.1_Silent_p.S484S			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	484					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGAGAAGACCGAGCTGACTG	0.582000													16	214					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084296	26084296	+	RNA	SNP	A	A	G	rs61752037	by1000genomes	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr20:26084296A>G	ENST00000478176.1	-	0	161					NR_003678.1													p.F40F(1)									GTTTGCCTCCAAATGCTGGAT	0.378000													4	74					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77089190	77089190	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:77089190G>C	ENST00000426216.2	+	16	1840	c.1823G>C	c.(1822-1824)aGg>aCg	p.R608T	ATP9B_ENST00000307671.7_Missense_Mutation_p.R608T	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	608					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTGGTCAGCAGGGACCTCACC	0.622000													6	16					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	52994576	52994576	+	Splice_Site	SNP	G	G	C	rs61191258		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr19:52994576G>C	ENST00000421239.2	+	3	123		c.e3-1			NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATATTTTGTAGATATCTCTTC	0.363000													3	2					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61507077	61507077	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:61507077C>T	ENST00000257215.5	+	17	1913	c.1797C>T	c.(1795-1797)ctC>ctT	p.L599L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	599					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCACTCCACTCTACCCGCCCG	0.657000													48	63					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42835254	42835254	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:42835254C>T	ENST00000549190.1	+	10	1282	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	PPHLN1_ENST00000395568.2_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Silent_p.L356L|PPHLN1_ENST00000552761.1_Silent_p.L301L|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000449194.2_Silent_p.L330L|PPHLN1_ENST00000358314.7_Silent_p.L349L			Q8NEY8	PPHLN_HUMAN	periphilin 1	0					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTGAAGAACTCAAGCATTTCA	0.333000													37	44					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153745426	153745426	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:153745426G>A	ENST00000456435.1	+	28	3686	c.2500G>A	c.(2500-2502)Gag>Aag	p.E834K	INTS3_ENST00000435409.2_Missense_Mutation_p.E974K|INTS3_ENST00000512605.1_Missense_Mutation_p.E834K|INTS3_ENST00000318967.2_Missense_Mutation_p.E974K|INTS3_ENST00000476843.1_3'UTR			Q68E01	INT3_HUMAN	integrator complex subunit 3	975					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCCCTGGCGGAGGAATATGA	0.572000													17	138					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91483695	91483695	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:91483695C>G	ENST00000394275.2	+	9	1469	c.634C>G	c.(634-636)Cag>Gag	p.Q212E	UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000418476.2_Missense_Mutation_p.Q227E	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	227					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTCTGAGCATCAGTCACGGGT	0.552000													6	37					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150649632	150649632	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr7:150649632C>T	ENST00000392968.2	-	4	2270	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	KCNH2_ENST00000262186.5_Missense_Mutation_p.E480K|KCNH2_ENST00000330883.4_Missense_Mutation_p.E140K|KCNH2_ENST00000430723.3_Missense_Mutation_p.E480K			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	480					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ACCACCTCCTCGTTGGCATTG	0.597000													7	121					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75183866	75183866	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr15:75183866C>T	ENST00000352410.4	+	3	358	c.291C>T	c.(289-291)ctC>ctT	p.L97L	MPI_ENST00000566377.1_Silent_p.L97L|MPI_ENST00000562606.1_Silent_p.L77L|MPI_ENST00000563422.1_Silent_p.L97L|MPI_ENST00000323744.6_Silent_p.L97L|MPI_ENST00000564003.1_Silent_p.L47L|MPI_ENST00000563786.1_Silent_p.L77L|MPI_ENST00000535694.1_Silent_p.L47L|MPI_ENST00000565576.1_Silent_p.L97L			P34949	MPI_HUMAN	mannose phosphate isomerase	97					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCCCTTCCTCTTCAAAGTGC	0.527000													18	108					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													3	45					0	0	1	0	0
ZNF689	115509	broad.mit.edu	37	16	30616651	30616651	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:30616651G>A	ENST00000287461.3	-	3	774	c.437C>T	c.(436-438)tCc>tTc	p.S146F	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGGGCCCCCGGACGTCTGCCT	0.602000													12	76					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106158369	106158369	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:106158369G>C	ENST00000540549.1	+	3	4130	c.3270G>C	c.(3268-3270)aaG>aaC	p.K1090N	TET2_ENST00000513237.1_Missense_Mutation_p.K1111N|TET2_ENST00000413648.2_Missense_Mutation_p.K1090N|TET2_ENST00000394764.1_Missense_Mutation_p.K1090N|TET2_ENST00000545826.1_Missense_Mutation_p.K1090N|TET2_ENST00000305737.2_Missense_Mutation_p.K1090N|TET2_ENST00000380013.4_Missense_Mutation_p.K1090N			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1090					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTTCAGAAAAGACACCAACCA	0.393000			"""Mis N, F"""		MDS								30	26					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20331027	20331027	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:20331027C>G	ENST00000302555.5	-	6	1071	c.922G>C	c.(922-924)Gac>Cac	p.D308H	GP2_ENST00000341642.5_Missense_Mutation_p.D161H|GP2_ENST00000381362.4_Missense_Mutation_p.D311H|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.D164H			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	311	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGATGGTGTCTCTGATGATG	0.438000													117	23					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			63	11					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49337968	49337968	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:49337968G>A	ENST00000225298.7	+	1	80	c.23G>A	c.(22-24)cGa>cAa	p.R8Q		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	8					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CGGAGGAGACGAATGAAACTG	0.687000													7	19					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13381432	13381432	+	Silent	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:13381432G>A	ENST00000254508.5	-	25	3475	c.3393C>T	c.(3391-3393)ctC>ctT	p.L1131L	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1131					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCCCGATGGCGAGGCCCTGTA	0.612000													79	109					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50685565	50685565	+	Silent	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:50685565G>C	ENST00000230658.7	+	4	1149	c.564G>C	c.(562-564)ctG>ctC	p.L188L	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.L188L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	188					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGACTGTGCTGAACGAGAAGC	0.667000													9	43					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191362263	191362263	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:191362263C>G	ENST00000392328.1	+	7	2314	c.1990C>G	c.(1990-1992)Cgc>Ggc	p.R664G	MFSD6_ENST00000535751.1_Missense_Mutation_p.R126G|MFSD6_ENST00000281416.7_Missense_Mutation_p.R664G	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	664					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TGTCATGCCACGCATTGAGCC	0.502000													12	145					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	879384	879384	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:879384G>A	ENST00000342066.3	+	14	1980	c.1897G>A	c.(1897-1899)Ggc>Agc	p.G633S		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	633						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCGAGAACTCGGCACAGGAGA	0.682000													53	45					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18880947	18880947	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr17:18880947C>G	ENST00000388995.6	-	5	2255	c.2032G>C	c.(2032-2034)Gat>Cat	p.D678H	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.D678H|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D678H			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	678										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TTCAACGCATCTGCTTCTTCT	0.652000													10	60					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55948135	55948135	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:55948135G>A	ENST00000263923.4	-	29	4131	c.3836C>T	c.(3835-3837)tCt>tTt	p.S1279F	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1279					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAAAGATGGAGATAATTTGGT	0.388000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			9	102					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159013	18159013	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:18159013C>G	ENST00000396275.2	+	3	625	c.264C>G	c.(262-264)atC>atG	p.I88M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	88						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TACGCCTCATCAATATCCGCC	0.547000													42	50					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15523430	15523430	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:15523430G>C	ENST00000344537.5	-	10	1004	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	DTNBP1_ENST00000355917.3_Missense_Mutation_p.Q279E|DTNBP1_ENST00000462989.2_Missense_Mutation_p.Q122E	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	278	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			ATCTCATTCTGACAGGTACTG	0.488000									Hermansky-Pudlak syndrome				4	185					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154571024	154571024	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:154571024G>A	ENST00000368474.4	-	3	1838	c.1639C>T	c.(1639-1641)Ccc>Tcc	p.P547S	ADAR_ENST00000368471.3_Missense_Mutation_p.P252S|ADAR_ENST00000292205.5_Missense_Mutation_p.P590S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	547	DRBM 1.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCAGCTGGGGGAAACTCTCGG	0.473000													12	167					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35555344	35555344	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35555344G>A	ENST00000455600.1	+	3	2871	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	768						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGGGTCTGAGCCAGAGAC	0.657000													87	88					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367631	107367631	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:107367631G>A	ENST00000542196.1	-	1	320	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCAGAAAGGGAAATGGTCTT	0.517000													51	59					0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10427830	10427830	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:10427830C>G	ENST00000317552.4	-	8	1703	c.1303G>C	c.(1303-1305)Gat>Cat	p.D435H	MID1_ENST00000380779.1_Missense_Mutation_p.D435H|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380780.1_Missense_Mutation_p.D435H|MID1_ENST00000453318.2_Missense_Mutation_p.D435H|MID1_ENST00000380785.1_Missense_Mutation_p.D435H|MID1_ENST00000380787.1_Missense_Mutation_p.D435H|MID1_ENST00000380782.2_Missense_Mutation_p.D435H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	435	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	p.D435N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ATCCAGCTATCAGCCGAATTA	0.463000													9	144					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48934194	48934194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:48934194C>T	ENST00000267163.4	+	7	787	c.649C>T	c.(649-651)Cag>Tag	p.Q217*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	217					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.Q217*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATTTCATTTCAGTTAATGCT	0.308000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			67	17					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239789	6239789	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:6239789C>T	ENST00000265978.4	-	8	1834	c.1476G>A	c.(1474-1476)acG>acA	p.T492T	FAM160A2_ENST00000449352.2_Intron|FAM160A2_ENST00000524416.1_Intron	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	479					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.T492T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGCCATACCCGTGATGTCCT	0.612000													51	91					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219508869	219508869	+	Silent	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:219508869C>T	ENST00000411696.2	-	7	3149	c.2370G>A	c.(2368-2370)gaG>gaA	p.E790E	ZNF142_ENST00000449707.1_Silent_p.E790E			P52746	ZN142_HUMAN	zinc finger protein 142	790					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGGTGCTGTCTCAGCAGGTG	0.532000													6	198					0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97278831	97278831	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:97278831G>C	ENST00000609116.1	+	14	1551	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	PTBP2_ENST00000394184.3_Missense_Mutation_p.R506T|PTBP2_ENST00000541987.1_Splice_Site|PTBP2_ENST00000370198.1_Splice_Site|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.R495T|PTBP2_ENST00000426398.2_Splice_Site			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2		RRM 4.						nucleotide binding	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGTTTCAGAAGAGATCACAAA	0.323000													3	53					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642805	104642805	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:104642805G>A	ENST00000315264.7	+	11	3641	c.3263G>A	c.(3262-3264)cGc>cAc	p.R1088H	KIF26A_ENST00000423312.2_Missense_Mutation_p.R1227H			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1227					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCTGTGCTCGCCTGGGCCAG	0.701000													16	21					0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137804	140137804	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:140137804C>G	ENST00000340384.4	+	4	1282	c.1134C>G	c.(1132-1134)ttC>ttG	p.F378L		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	378					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										AGGAGCTGTTCAAGCGCATCT	0.597000													82	171					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169825055	169825055	+	Silent	SNP	C	C	T	rs75739679	byFrequency	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:169825055C>T	ENST00000367772.4	-	12	1553	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	SCYL3_ENST00000367770.1_Silent_p.S452S|SCYL3_ENST00000367771.6_Intron	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	452					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAAGATTGGCGAGATCTGAC	0.428000													4	133					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552648	18552648	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:18552648G>A	ENST00000433979.1	+	15	2175	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E728K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E687K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	687					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGCAATAATGAAAACTGCTC	0.388000													24	48					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53617425	53617425	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:53617425C>G	ENST00000342160.3	-	34	4587	c.4130G>C	c.(4129-4131)aGa>aCa	p.R1377T	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1377T|HUWE1_ENST00000218328.8_Missense_Mutation_p.R1377T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1377					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCAATTGCTCTCATCATCTG	0.443000													103	9					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185985533	185985533	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:185985533C>T	ENST00000265022.3	-	13	1689	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	DGKG_ENST00000382164.4_Missense_Mutation_p.D345N|DGKG_ENST00000544847.1_Missense_Mutation_p.D345N|DGKG_ENST00000344484.4_Missense_Mutation_p.D384N	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	384					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCCCACCGTCACACAACGTT	0.522000													56	101					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150911830	150911830	+	Silent	SNP	C	C	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:150911830C>A	ENST00000329903.4	+	6	888	c.855C>A	c.(853-855)atC>atA	p.I285I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	285					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGTCATCATCCACTGGA	0.493000													111	22					3.13773e-49	3.41683e-49	1	1	0
FLT3	2322	broad.mit.edu	37	13	28601286	28601286	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr13:28601286C>G	ENST00000380982.4	-	17	2227	c.2146G>C	c.(2146-2148)Gag>Cag	p.E716Q	FLT3_ENST00000537084.1_Missense_Mutation_p.E716Q|FLT3_ENST00000241453.7_Missense_Mutation_p.E716Q			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	716	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAAAATCTCTGTCCAAGTC	0.358000			"""Mis, O"""		"""AML, ALL"""								18	244					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41568628	41568628	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:41568628G>C	ENST00000263253.7	+	28	5797	c.4578G>C	c.(4576-4578)gaG>gaC	p.E1526D	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1526	Poly-Glu.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGGAAGAAGAGAGAAAACGAG	0.388000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				7	26					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167159806	167159806	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr2:167159806T>G	ENST00000375387.4	-	7	1038	c.698A>C	c.(697-699)aAg>aCg	p.K233T	SCN9A_ENST00000409435.1_Missense_Mutation_p.K232T|SCN9A_ENST00000303354.6_Missense_Mutation_p.K233T|SCN9A_ENST00000409672.1_Missense_Mutation_p.K232T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	232						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TACAATTGTCTTCAGGCCTGA	0.393000													32	34					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19528304	19528304	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:19528304G>A	ENST00000375267.2	-	2	185	c.182C>T	c.(181-183)tCa>tTa	p.S61L	UBR4_ENST00000375217.2_Missense_Mutation_p.S61L|UBR4_ENST00000375226.2_Missense_Mutation_p.S61L|UBR4_ENST00000375254.3_Missense_Mutation_p.S61L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	61					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGGATTTCTGATTCACTGTA	0.368000													6	48					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58038604	58038604	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr18:58038604C>T	ENST00000299766.3	-	1	1397	c.979G>A	c.(979-981)Gac>Aac	p.D327N		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	327					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CTAGACAAGTCACAAAGGCCT	0.418000													41	23					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31526792	31526792	+	Missense_Mutation	SNP	G	G	A	rs149389256	by1000genomes	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr5:31526792G>A	ENST00000511367.2	-	4	492	c.248C>T	c.(247-249)cCa>cTa	p.P83L	DROSHA_ENST00000513349.1_Missense_Mutation_p.P83L|DROSHA_ENST00000442743.1_Missense_Mutation_p.P83L|DROSHA_ENST00000344624.3_Missense_Mutation_p.P83L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	83	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGGCATGGGTGGGGGGAAGGG	0.577000													3	50					0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169346158	169346158	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:169346158G>C	ENST00000367808.3	+	3	832	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	BLZF1_ENST00000367807.3_Missense_Mutation_p.E137Q|BLZF1_ENST00000329281.2_Missense_Mutation_p.E137Q			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	137					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CAAGAATTCTGAAAGAAGGTT	0.383000													25	49					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282408	69282408	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chrX:69282408C>G	ENST00000338352.2	+	1	68	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	12										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GCAGCGCATACTGCGCCGCCA	0.532000													3	10					0	0	1	0	0
RPL24	6152	broad.mit.edu	37	3	101404687	101404687	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr3:101404687C>G	ENST00000469605.1	-	3	185	c.167G>C	c.(166-168)aGa>aCa	p.R56T	RPL24_ENST00000394077.3_Missense_Mutation_p.R56T|RPL24_ENST00000495401.1_Missense_Mutation_p.R56T			P83731	RL24_HUMAN	ribosomal protein L24	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			large_intestine(1)|lung(2)|urinary_tract(1)	4						GTGCTTCCTTCTGTAGAGGAC	0.458000													44	49					0	0	1	0	0
GSTZ1	2954	broad.mit.edu	37	14	77797454	77797454	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:77797454C>G	ENST00000393734.1	+	10	939	c.402C>G	c.(400-402)atC>atG	p.I134M	GSTZ1_ENST00000349555.3_Missense_Mutation_p.I147M|GSTZ1_ENST00000554279.1_Missense_Mutation_p.I175M|GSTZ1_ENST00000557053.1_Missense_Mutation_p.I92M|GSTZ1_ENST00000216465.5_Missense_Mutation_p.I189M|GSTZ1_ENST00000557639.1_Missense_Mutation_p.I134M|GSTZ1_ENST00000553586.1_Missense_Mutation_p.I190M|GSTZ1_ENST00000361389.4_Missense_Mutation_p.I134M|GSTZ1_ENST00000556627.1_Missense_Mutation_p.I162M	NM_001513.3	NP_001504.2	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	189	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	TCAGCTCCATCAACAAGAGGC	0.567000													54	47					0	0	1	0	0
LIN52	91750	broad.mit.edu	37	14	74567922	74567922	+	Silent	SNP	T	T	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr14:74567922T>C	ENST00000555028.1	+	5	443	c.276T>C	c.(274-276)taT>taC	p.Y92Y	LIN52_ENST00000554076.1_3'UTR	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	92										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		ACCTAGCCTATCAGCTGGGGC	0.488000													28	71					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16262459	16262460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:16262459_16262460insC	ENST00000375759.3	+	11	9928_9929	c.9724_9725insC	c.(9724-9726)gccfs	p.A3242fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3242	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCAAAGCTgcccccaccccc	0.683													8	59	---	---	---	---					
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													5	6	---	---	---	---					
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443													9	353	---	---	---	---					
UCP1	7350	broad.mit.edu	37	4	141489036	141489036	+	Frame_Shift_Del	DEL	G	G	-	rs17848358		TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr4:141489036delG	ENST00000262999.3	-	2	297	c.222delC	c.(220-222)ctcfs	p.L74fs		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	74					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GCCCGCTGTAGAGTTTCATCC	0.567													71	90	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36652112	36652113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr6:36652112_36652113insC	ENST00000405375.1	+	2	469_470	c.234_235insC	c.(235-237)cccfs	p.P79fs	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.P79fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.P113fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.P79fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	79					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						AGCTCTACCTTCCCACGGGGCC	0.663													29	7	---	---	---	---					
KCNV1	27012	broad.mit.edu	37	8	110984590	110984593	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr8:110984590_110984593delACTT	ENST00000524391.1	-	3	1917_1920	c.885_888delAAGT	c.(883-888)ctaagtfs	p.LS295fs	KCNV1_ENST00000297404.1_Frame_Shift_Del_p.LS295fs			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	295						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCTGGCTCCCACTTAGGCTCTCTA	0.559													21	62	---	---	---	---					
RUSC2	9853	broad.mit.edu	37	9	35560363	35560363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr9:35560363delG	ENST00000455600.1	+	10	4295	c.3726delG	c.(3724-3726)gagfs	p.E1246fs		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1246	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			aagaggaagaggaagaagagg	0.697													8	16	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	17145185	17145185	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr10:17145185delG	ENST00000377833.4	-	13	1534	c.1469delC	c.(1468-1470)ccgfs	p.P490fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	490	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCAACATCCGGGCTCCTGTA	0.398													45	73	---	---	---	---					
TMEM126A	84233	broad.mit.edu	37	11	85366703	85366704	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr11:85366703_85366704insTA	ENST00000304511.2	+	4	455_456	c.346_347insTA	c.(346-348)ctafs	p.L116fs	TMEM126A_ENST00000532180.1_Frame_Shift_Ins_p.L46fs|TMEM126A_ENST00000528105.1_Frame_Shift_Ins_p.L46fs	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	116						integral to membrane|mitochondrion				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TATTGGTGGTCTATACCCTGTT	0.366													84	231	---	---	---	---					
BAZ2A	11176	broad.mit.edu	37	12	56999009	56999010	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr12:56999009_56999010insCA	ENST00000179765.5	-	15	2704_2705	c.2505_2506insTG	c.(2503-2508)gtgctgfs	p.L836fs	BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.L866fs|BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.L868fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.L838fs			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	868					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCAAAGCCCAGCACCTTGCCAA	0.574													25	32	---	---	---	---					
UNKL	64718	broad.mit.edu	37	16	1464642	1464643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr16:1464642_1464643insG	ENST00000389221.4	-	1	49_50	c.50_51insC	c.(49-51)ccgfs	p.P17fs	UNKL_ENST00000508903.2_Frame_Shift_Ins_p.P17fs|UNKL_ENST00000397462.1_Frame_Shift_Ins_p.P17fs|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000301712.5_Frame_Shift_Ins_p.P17fs	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	17						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TCTCAGTCTGCGGGGGGGACCC	0.757													2	4	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3JX-01A-11D-A20D-08	TCGA-GV-A3JX-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21525d6f-4222-4e0a-9f07-8adbbd55c54f	aecc0cdf-ce83-4121-a26b-b31d1d86ec2f	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													7	184	---	---	---	---