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
PDCD2L	84306	broad.mit.edu	37	19	34912527	34912527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:34912527C>T	ENST00000246535.3	+	6	948	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	301						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATTTGAGTTTCAGCTTATGCC	0.453000													54	142					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731552	141731552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:141731552G>C	ENST00000475668.2	+	13	1597	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	MGAM_ENST00000549489.2_Missense_Mutation_p.E515Q			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	515	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAAGGAATTTGAGCTTTTTCA	0.368000													16	82					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57620058	57620058	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:57620058C>A	ENST00000374888.1	+	1	1790	c.1577C>A	c.(1576-1578)tCt>tAt	p.S526Y		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	526	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCCAGGTTCTCTGCTCGCAGT	0.517000													10	65					1.33834e-09	1.47446e-09	1	1	0
ZPBP	11055	broad.mit.edu	37	7	50070753	50070753	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:50070753G>C	ENST00000046087.2	-	5	710	c.641C>G	c.(640-642)tCt>tGt	p.S214C	ZPBP_ENST00000419417.1_Missense_Mutation_p.S213C|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	214					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					ATGGCATTCAGACTTAAGTAA	0.328000													10	85					0	0	1	0	0
PRDX6	9588	broad.mit.edu	37	1	173454569	173454569	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:173454569C>T	ENST00000340385.5	+	3	454	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	108	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						TGATAGGAATCGGGAGCTTGC	0.448000													25	66					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42046702	42046702	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42046702C>T	ENST00000219905.7	+	18	7257	c.7076C>T	c.(7075-7077)tCa>tTa	p.S2359L	MGA_ENST00000545763.1_Missense_Mutation_p.S2150L|MGA_ENST00000566586.1_Missense_Mutation_p.S2150L|MGA_ENST00000570161.1_Missense_Mutation_p.S2359L|MGA_ENST00000389936.4_Missense_Mutation_p.S2320L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2320						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GAAGAGCTCTCAGAGGAAATT	0.383000													3	5					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82793045	82793045	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:82793045G>A	ENST00000248306.3	+	4	1072	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		ACCCAACAGAGAAACATCTGA	0.323000													4	52					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171223	68171223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:68171223G>T	ENST00000243457.3	+	2	426	c.43G>T	c.(43-45)Gaa>Taa	p.E15*	KCNJ2_ENST00000535240.1_Nonsense_Mutation_p.E15*	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	15					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CGTCTCTTCAGAAGAAGACGG	0.517000													16	64					1.52009e-12	1.70977e-12	1	1	0
SBDS	51119	broad.mit.edu	37	7	66459252	66459252	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:66459252C>T	ENST00000246868.2	-	2	388	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	69					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						ATGAGATCTTCCTTTTTGGCA	0.438000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				21	201					0	0	1	0	0
C22orf24	25775	broad.mit.edu	37	22	32334043	32334043	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:32334043G>C	ENST00000248984.3	-	2	176	c.10C>G	c.(10-12)Caa>Gaa	p.Q4E	C22orf24_ENST00000543051.1_Missense_Mutation_p.Q71E|C22orf24_ENST00000486651.1_5'UTR	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	4						integral to membrane				central_nervous_system(1)|urinary_tract(1)	2						GTATCCTCTTGAGTTGTCATG	0.448000													47	194					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32915107	32915107	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:32915107G>T	ENST00000544455.1	+	11	6842	c.6615G>T	c.(6613-6615)gtG>gtT	p.V2205V	BRCA2_ENST00000380152.3_Silent_p.V2205V	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2205					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGTTCCTGTGAAAACAAATA	0.323000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			35	80					3.67414e-24	4.22854e-24	1	1	0
IGHV1-46	28465	broad.mit.edu	37	14	106967373	106967373	+	RNA	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:106967373G>A	ENST00000390622.2	-	0	350																											GGACACAGTAGAGAATGACAG	0.567000													93	88					0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47270104	47270104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:47270104G>A	ENST00000377073.3	+	3	311	c.225G>A	c.(223-225)atG>atA	p.M75I		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	75	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AACCAGAGATGATCTTCAAGT	0.527000													5	9					0	0	1	0	0
HPCAL4	51440	broad.mit.edu	37	1	40149690	40149690	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:40149690C>T	ENST00000372844.3	-	3	688	c.297G>A	c.(295-297)caG>caA	p.Q99Q		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	99	EF-hand 3.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGTTGAGCTTCTGCTCGAAGC	0.657000													13	47					0	0	1	0	0
DLST	1743	broad.mit.edu	37	14	75359643	75359643	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75359643G>C	ENST00000334220.4	+	8	610	c.549G>C	c.(547-549)caG>caC	p.Q183H	DLST_ENST00000334212.6_Missense_Mutation_p.Q97H|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	183					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TACCCACTCAGATGCCACCGG	0.587000													9	61					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235088	100235088	+	Missense_Mutation	SNP	C	C	T	rs75973598		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:100235088C>T	ENST00000305046.8	-	6	785	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ADH1B_ENST00000394887.3_Missense_Mutation_p.E200K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	240					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGATGCATTCAGTGGCACCC	0.468000													77	427					0	0	1	0	0
POC1A	25886	broad.mit.edu	37	3	52183865	52183865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:52183865C>T	ENST00000394970.2	-	3	559	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	POC1A_ENST00000296484.2_Missense_Mutation_p.R81Q|POC1A_ENST00000474012.1_Missense_Mutation_p.R43Q	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	81						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AGTCTTGTCTCGGGAGCCGGA	0.597000													11	51					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361098	105361098	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:105361098C>A	ENST00000297581.2	+	2	367	c.318C>A	c.(316-318)gtC>gtA	p.V106V	DCSTAMP_ENST00000517991.1_Silent_p.V106V|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	106					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CAGGGATCGTCATCTTGGGAC	0.438000													17	193					1.45105e-14	1.64359e-14	1	1	0
SASH1	23328	broad.mit.edu	37	6	148848652	148848652	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:148848652C>G	ENST00000367467.3	+	12	1823	c.1348C>G	c.(1348-1350)Ctt>Gtt	p.L450V		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	450							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCGCATCTCTCTTGGGAAAAA	0.418000													21	73					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51934202	51934202	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:51934202C>T	ENST00000371733.3	-	5	348	c.252G>A	c.(250-252)caG>caA	p.Q84Q	EPS15_ENST00000371730.2_Silent_p.Q84Q	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	84	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CCAATCCATTCTGGGCACATG	0.358000			T	MLL	ALL								9	53					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36634718	36634718	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:36634718C>G	ENST00000373448.2	-	4	2622	c.2384G>C	c.(2383-2385)aGa>aCa	p.R795T	TTI1_ENST00000449821.1_Missense_Mutation_p.R795T|TTI1_ENST00000373447.3_Missense_Mutation_p.R795T	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	795							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGCTGCTGGTCTTTGGTTCAA	0.463000													52	73					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832521	39832521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:39832521C>A	ENST00000309060.3	-	4	1451	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	ZHX3_ENST00000560361.1_Nonsense_Mutation_p.E346*|ZHX3_ENST00000540170.1_Nonsense_Mutation_p.E346*|ZHX3_ENST00000432768.2_Nonsense_Mutation_p.E346*|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Nonsense_Mutation_p.E346*|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Nonsense_Mutation_p.E346*			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	346	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTGAGCTGTTCTTCTGGATAC	0.507000													25	42					3.08376e-08	3.34593e-08	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73453372	73453372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:73453372C>T	ENST00000263666.4	-	4	1207	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	PDZRN3_ENST00000462146.2_Missense_Mutation_p.E22K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E22K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E87K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E82K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	365							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ATGATATGTTCAAAGGTGATG	0.512000													49	65					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65348558	65348558	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:65348558G>A	ENST00000309295.4	+	7	929	c.664G>A	c.(664-666)Gag>Aag	p.E222K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	222	Poly-Glu.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GACGCTTTGTGAGGAGGAGGA	0.667000													5	20					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420241	49420241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:49420241G>A	ENST00000301067.7	-	48	15507	c.15508C>T	c.(15508-15510)Cag>Tag	p.Q5170*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCTCCCCGCTGAATGATGCTA	0.572000													5	43					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423577	47423577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:47423577C>G	ENST00000404338.3	+	1	1645	c.1645C>G	c.(1645-1647)Cat>Gat	p.H549D		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	549					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GAAACACATTCATTTTGTGTA	0.473000													80	116					0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70928012	70928012	+	Splice_Site	SNP	G	G	A	rs119103223		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:70928012G>A	ENST00000340941.6	+	8	932	c.803G>A	c.(802-804)aGa>aAa	p.R268K	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Splice_Site_p.R230K|MCCC2_ENST00000509358.2_Splice_Site_p.R268K	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	268	Carboxyltransferase.		R -> T (in MCC2 deficiency; asymptomatic form).		leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTTCATTGCAGGTGAAACAGA	0.398000													33	47					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52940929	52940929	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52940929C>T	ENST00000371544.3	-	13	2564	c.2302G>A	c.(2302-2304)Gaa>Aaa	p.E768K	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E768K	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	768					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAGTCCATTTCATCACATTGA	0.388000													45	102					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1500420	1500420	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:1500420G>A	ENST00000345913.4	+	13	2360	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K	TPO_ENST00000382201.3_Missense_Mutation_p.E700K|TPO_ENST00000349624.3_Missense_Mutation_p.E584K|TPO_ENST00000346956.3_Missense_Mutation_p.E757K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.E584K|TPO_ENST00000329066.4_Missense_Mutation_p.E757K|TPO_ENST00000337415.3_Missense_Mutation_p.E757K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	757	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGTGCACTGTGAGGAGTCTGG	0.547000													45	83					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117188609	117188609	+	Missense_Mutation	SNP	G	G	A	rs142990800	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:117188609G>A	ENST00000362057.3	-	4	1216	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	350	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGAGGTGCCGAGATGACTTA	0.587000													9	54					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579630	35579630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:35579630C>G	ENST00000373330.1	+	11	2373	c.2199C>G	c.(2197-2199)ttC>ttG	p.F733L	ZMYM1_ENST00000359858.4_Missense_Mutation_p.F733L|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	733						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAGAATTCAAGAAAGAAG	0.318000													15	51					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66627411	66627411	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627411C>G	ENST00000309602.4	+	2	1896	c.1653C>G	c.(1651-1653)ctC>ctG	p.L551L	PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	551						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCCTCCCCCTCAAGCTCAGCC	0.726000													10	19					0	0	1	0	0
CCNB1	891	broad.mit.edu	37	5	68473423	68473423	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:68473423G>C	ENST00000256442.5	+	9	1520	c.1267G>C	c.(1267-1269)Gtt>Ctt	p.V423L		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	423					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTGCACTAGTTCAAGATTT	0.393000													52	56					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167815465	167815465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:167815465G>A	ENST00000367848.1	-	20	2695	c.2198C>T	c.(2197-2199)tCc>tTc	p.S733F	ADCY10_ENST00000545172.1_Missense_Mutation_p.S672F|ADCY10_ENST00000367851.4_Missense_Mutation_p.S825F			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	825					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATTTGGTGGGAAAGTCTCAT	0.418000													32	278					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44041638	44041638	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:44041638G>A	ENST00000543989.1	-	8	2260	c.555C>T	c.(553-555)ttC>ttT	p.F185F	ABCG5_ENST00000405322.1_Silent_p.F409F|ABCG5_ENST00000260645.1_Silent_p.F580F			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	580	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCAGTCCGTAGAACTCATTGA	0.308000													9	56					0	0	1	0	0
FTSJ1	24140	broad.mit.edu	37	X	48340027	48340027	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48340027C>T	ENST00000019019.2	+	10	1008	c.579C>T	c.(577-579)ttC>ttT	p.F193F	FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000348411.2_Silent_p.F193F|FTSJ1_ENST00000456787.1_Silent_p.F193F|FTSJ1_ENST00000396894.4_Silent_p.F56F	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	193					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CAGAGGCCTTCGCTGTCTGTC	0.647000													7	19					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517505	195517505	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:195517505G>C	ENST00000463781.3	-	2	1405	c.946C>G	c.(946-948)Cag>Gag	p.Q316E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q316E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	321					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTTGTGTCCTGAGTAGAAGTC	0.468000													31	135					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144897387	144897387	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144897387G>A	ENST00000356994.2	-	1	162	c.156C>T	c.(154-156)ccC>ccT	p.P52P	SCRIB_ENST00000320476.3_Silent_p.P52P	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	52	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGCTCACCTTGGGCAGCTCGC	0.716000													5	6					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528459	157528459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:157528459G>T	ENST00000346085.5	+	20	6185	c.6184G>T	c.(6184-6186)Gag>Tag	p.E2062*	ARID1B_ENST00000350026.5_Nonsense_Mutation_p.E2049*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.E2044*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.E2102*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2049					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCGTCTGCAGAGGCACAAGA	0.532000													42	110					8.69298e-16	9.88117e-16	1	1	0
TNFSF12	8742	broad.mit.edu	37	17	7460637	7460637	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7460637C>A	ENST00000293825.6	+	7	983	c.720C>A	c.(718-720)ctC>ctA	p.L240L	TNFSF12_ENST00000557233.1_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000462811.1_3'UTR	NM_003809.2	NP_003800.1			tumor necrosis factor (ligand) superfamily, member 12											central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CCCCCTTCCTCACCTACTTCG	0.692000													9	30					3.09899e-07	3.31501e-07	1	1	0
RENBP	5973	broad.mit.edu	37	X	153205672	153205672	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:153205672C>T	ENST00000393700.3	-	9	1040	c.960G>A	c.(958-960)atG>atA	p.M320I	RENBP_ENST00000369997.3_Missense_Mutation_p.M306I|RENBP_ENST00000412763.1_3'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	320					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCAGAGCTTCATGGCCCACT	0.602000													11	51					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131825454	131825454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:131825454G>A	ENST00000359827.3	-	30	6304	c.5342C>T	c.(5341-5343)tCt>tTt	p.S1781F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1781F			Q9HCM2	PLXA4_HUMAN	plexin A4	1781						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGTGGAGCAAGAGTCCATGAA	0.542000													16	80					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95266787	95266787	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:95266787C>G	ENST00000371485.3	+	4	806	c.502C>G	c.(502-504)Cat>Gat	p.H168D		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	168	Interaction with PDCD6IP.|Interaction with TSG101.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAATAATATTCATGAAATGGA	0.318000													13	46					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	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)			12	81					0	0	1	0	0
SNHG19	100507303	broad.mit.edu	37	16	2205103	2205103	+	RNA	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2205103G>A	ENST00000563192.1	-	0	216				SNORD60_ENST00000383903.1_RNA																							ATTCATCACAGACTGGGAGAA	0.507000													3	31					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73204648	73204648	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73204648G>C	ENST00000245544.4	+	2	131	c.60G>C	c.(58-60)aaG>aaC	p.K20N	NUP85_ENST00000579298.1_Missense_Mutation_p.K20N|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000541827.1_Intron|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000447371.2_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	20					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)			ATTCCAAGAAGAACCAAATGT	0.343000													32	271					0	0	1	0	0
FAM102B	284611	broad.mit.edu	37	1	109103119	109103119	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:109103119C>T	ENST00000370035.3	+	1	409	c.69C>T	c.(67-69)ttC>ttT	p.F23F	FAM102B_ENST00000405454.1_Silent_p.F23F	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	23										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CAGTGCCCTTCGTCAATGGGG	0.607000													8	33					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279889	152279889	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:152279889A>C	ENST00000368799.1	-	3	7508	c.7473T>G	c.(7471-7473)caT>caG	p.H2491Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2491	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGCTGTGATGAGACCCTG	0.542000									Ichthyosis				186	609					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47888002	47888002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:47888002C>G	ENST00000396105.1	-	3	593	c.347G>C	c.(346-348)aGa>aCa	p.R116T	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R116T|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R116T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	116							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCATGGTGGTCTGCGGTTCCT	0.547000													60	243					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13534731	13534731	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:13534731C>G	ENST00000341083.3	-	5	857	c.561G>C	c.(559-561)gaG>gaC	p.E187D	BEND7_ENST00000396900.2_Missense_Mutation_p.E239D|BEND7_ENST00000396898.2_Missense_Mutation_p.E252D|BEND7_ENST00000378605.3_Missense_Mutation_p.E200D	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	239							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TTTTCTCCATCTCTGACCCAC	0.532000													24	186					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89382250	89382250	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:89382250G>A	ENST00000439576.2	+	3	801	c.427G>A	c.(427-429)Gag>Aag	p.E143K	ACAN_ENST00000561243.1_Missense_Mutation_p.E143K|ACAN_ENST00000558207.1_Missense_Mutation_p.E143K|ACAN_ENST00000559004.1_Missense_Mutation_p.E143K|ACAN_ENST00000352105.7_Missense_Mutation_p.E143K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	143					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGGACAGCGAGGCCACCCT	0.622000													22	95					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45192108	45192108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:45192108G>T	ENST00000279027.4	-	12	1595	c.1577C>A	c.(1576-1578)tCa>tAa	p.S526*	SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.S479*|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.S444*|SLC13A3_ENST00000435032.1_Nonsense_Mutation_p.S111*|SLC13A3_ENST00000413164.2_Nonsense_Mutation_p.S476*|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.S479*|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.S444*	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	526						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGGGGCGTTGAGACCGGGAG	0.617000													13	23					1.5842e-08	1.72178e-08	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2808485	2808485	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2808485C>G	ENST00000301740.8	+	5	1079	c.530C>G	c.(529-531)tCt>tGt	p.S177C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	177	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTCGGGAGTCTAGCAGTTCT	0.408000													22	188					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126367492	126367492	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:126367492C>T	ENST00000394329.3	+	8	7251	c.7238C>T	c.(7237-7239)tCg>tTg	p.S2413L	FAT4_ENST00000335110.5_Missense_Mutation_p.S711L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2413	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCAACCCATCGACAGGACAA	0.408000													15	109					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280791	238280791	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:238280791G>C	ENST00000295550.4	-	9	4321	c.3869C>G	c.(3868-3870)tCc>tGc	p.S1290C	COL6A3_ENST00000472056.1_Missense_Mutation_p.S683C|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1084C|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1084C|COL6A3_ENST00000392004.3_Missense_Mutation_p.S1084C|COL6A3_ENST00000392003.2_Missense_Mutation_p.S883C|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1090C|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1089C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1290	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATCCTTGCTGGAATGGGCGTT	0.607000													15	30					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123716	40123716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:40123716G>A	ENST00000261435.6	+	9	4401	c.3985G>A	c.(3985-3987)Gaa>Aaa	p.E1329K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1329						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGATGAAGAAGAATTTATGAA	0.289000													30	63					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270993	84270993	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:84270993C>T	ENST00000568181.1	-	2	219	c.99G>A	c.(97-99)acG>acA	p.T33T	KCNG4_ENST00000308251.4_Silent_p.T33T			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	33						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGATGGACGGCGTCTCCATGG	0.627000													11	54					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266753	55266753	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:55266753C>T	ENST00000371276.4	-	1	187	c.84G>A	c.(82-84)gaG>gaA	p.E28E	TTC22_ENST00000371274.4_Silent_p.E28E	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	28							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCAACTGCATCTCCAGGTGAA	0.687000													9	25					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993918	144993918	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144993918G>A	ENST00000322810.4	-	32	10651	c.10482C>T	c.(10480-10482)ctC>ctT	p.L3494L	PLEC_ENST00000354589.3_Silent_p.L3357L|PLEC_ENST00000345136.3_Silent_p.L3357L|PLEC_ENST00000357649.2_Silent_p.L3361L|PLEC_ENST00000436759.2_Silent_p.L3384L|PLEC_ENST00000398774.2_Silent_p.L3325L|PLEC_ENST00000527096.1_Silent_p.L3380L|PLEC_ENST00000354958.2_Silent_p.L3335L|PLEC_ENST00000356346.3_Silent_p.L3343L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3494	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.L3384L(1)|p.L3357L(1)|p.L3494L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGATGCCGGCGAGGCAGCCAC	0.657000													16	41					0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151214948	151214948	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151214948G>C	ENST00000409426.1	+	13	1954	c.1509G>C	c.(1507-1509)caG>caC	p.Q503H	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.Q453H|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.Q515H|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.Q475H|PIP5K1A_ENST00000414290.2_Intron			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	515					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTTACCTCAGACTCCACCTT	0.458000													37	132					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48837884	48837884	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48837884C>T	ENST00000376423.4	-	18	1569	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Splice_Site_p.E547K|GRIPAP1_ENST00000376425.3_Splice_Site_p.E561K|GRIPAP1_ENST00000376441.1_Splice_Site_p.E592K			Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	592						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TCCTTCACCTCCTGTGGGAGA	0.612000													4	29					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620217	77620217	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:77620217C>G	ENST00000521891.2	+	3	3475	c.3027C>G	c.(3025-3027)aaC>aaG	p.N1009K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.N983K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N983K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N983K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	983						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTACACCAACAGTGTGGATA	0.473000										HNSCC(33;0.089)			20	103					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58608559	58608559	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58608559G>T	ENST00000317147.5	-	16	2265	c.1933C>A	c.(1933-1935)Cca>Aca	p.P645T	CNOT1_ENST00000569240.1_Missense_Mutation_p.P645T|CNOT1_ENST00000441024.2_Missense_Mutation_p.P645T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	645					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAAGTTTCTGGAGGAAGTTGA	0.408000													15	115					2.32078e-09	2.54812e-09	1	1	0
LBX2	85474	broad.mit.edu	37	2	74725193	74725193	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74725193G>A	ENST00000460508.3	-	2	902	c.446C>T	c.(445-447)tCg>tTg	p.S149L	LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000377566.4_Missense_Mutation_p.S153L	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	153						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						CGCGCGTAGCGAGGCGACGTC	0.692000													21	60					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53288467	53288467	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:53288467G>A	ENST00000566029.1	+	18	4188	c.3979G>A	c.(3979-3981)Gat>Aat	p.D1327N	CHD9_ENST00000398510.3_Missense_Mutation_p.D1327N|CHD9_ENST00000447540.1_Missense_Mutation_p.D1327N|CHD9_ENST00000564845.1_Missense_Mutation_p.D1327N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1327	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACTGGGCCTAGATAAAGCTGT	0.388000													34	258					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026086	43026086	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:43026086C>T	ENST00000161559.6	-	3	827	c.693G>A	c.(691-693)ttG>ttA	p.L231L	CEACAM1_ENST00000308072.4_Silent_p.L191L|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Silent_p.L231L|CEACAM1_ENST00000599389.1_Silent_p.L231L|CEACAM1_ENST00000403444.3_Silent_p.L231L|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Silent_p.L231L|CEACAM1_ENST00000358394.3_Silent_p.L231L	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	231	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGGTGACATTCAAGGTGACTG	0.552000													28	184					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58639517	58639517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:58639517C>T	ENST00000598312.1	-	4	1587	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	ZNF329_ENST00000358067.4_Missense_Mutation_p.E452K	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TAGGGCTTCTCACCAGTATGA	0.502000													9	65					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118390358	118390358	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118390358G>A	ENST00000534358.1	+	32	11195	c.11172G>A	c.(11170-11172)ggG>ggA	p.G3724G	RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Silent_p.G3683G|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000389506.5_Silent_p.G3721G|RP11-770J1.3_ENST00000556583.1_RNA	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GGATGCTGGGGATTCTCCATG	0.493000													22	151					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620768	144620768	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144620768G>C	ENST00000262577.5	-	2	800	c.769C>G	c.(769-771)Cca>Gca	p.P257A		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	257					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGGAGCTGTGGAGCACAGCTG	0.667000													17	51					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35298106	35298106	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35298106C>T	ENST00000254457.5	+	3	2008	c.597C>T	c.(595-597)ttC>ttT	p.F199F	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	199					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGCCGCCTTCGCTGCTACAC	0.677000													7	17					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145739392	145739392	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145739392C>T	ENST00000428558.2	-	12	2019	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	660	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAGGCTCTTCAGCCACAGCC	0.657000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				6	5					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607319	53607319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53607319C>T	ENST00000425354.2	-	8	1466	c.979G>A	c.(979-981)Gag>Aag	p.E327K	RARG_ENST00000327550.3_Missense_Mutation_p.E255K|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.E327K|RARG_ENST00000338561.5_Missense_Mutation_p.E316K|RARG_ENST00000543726.1_Missense_Mutation_p.E305K	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	327	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGCCCTGTCTCGGTGTCATCC	0.647000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	22					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12673996	12673996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:12673996C>T	ENST00000228862.2	-	2	668	c.37G>A	c.(37-39)Gag>Aag	p.E13K	DUSP16_ENST00000298573.4_Missense_Mutation_p.E13K	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	13					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ACCAACCTCTCAGTAACAATT	0.438000													7	31					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811931	25811931	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:25811931G>C	ENST00000244527.4	-	9	1080	c.965C>G	c.(964-966)tCa>tGa	p.S322*	SLC17A1_ENST00000427328.1_Nonsense_Mutation_p.S268*|SLC17A1_ENST00000468082.1_Nonsense_Mutation_p.S268*|SLC17A1_ENST00000476801.1_Nonsense_Mutation_p.S322*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	322					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.S322*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GAAGAAGTCTGATAACTGACC	0.448000													22	65					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17532038	17532038	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:17532038C>T	ENST00000005226.7	-	17	1443	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	362	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTTTCCGATTCTTCAAGGTCT	0.483000													9	25					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2432724	2432724	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:2432724C>A	ENST00000452833.1	-	18	2654	c.2646G>T	c.(2644-2646)ctG>ctT	p.L882L	TRPM5_ENST00000533060.1_Silent_p.L880L|TRPM5_ENST00000528453.1_Silent_p.L880L|TRPM5_ENST00000155858.6_Silent_p.L880L			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	880						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			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)		GCCACACGCTCAGAAAGAAGA	0.672000													15	68					0.000566183	0.000584316	1	1	0
OR4X1	390113	broad.mit.edu	37	11	48285748	48285748	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:48285748C>G	ENST00000320048.1	+	1	336	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AGGCCTTTCTCCTGATGGTGA	0.493000													9	56					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47344505	47344505	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:47344505G>A	ENST00000398879.1	-	21	3113	c.2747C>T	c.(2746-2748)tCg>tTg	p.S916L	TNS3_ENST00000311160.9_Missense_Mutation_p.S916L|TNS3_ENST00000355730.3_Missense_Mutation_p.S676L			Q68CZ2	TENS3_HUMAN	tensin 3	916						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGAGGGCGTCGAGGACGCATC	0.567000													4	39					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607282	53607282	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53607282C>T	ENST00000425354.2	-	8	1503	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	RARG_ENST00000327550.3_Missense_Mutation_p.G267E|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.G339E|RARG_ENST00000338561.5_Missense_Mutation_p.G328E|RARG_ENST00000543726.1_Missense_Mutation_p.G317E	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	339	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCCCGCACCTCCGCAGATGAG	0.647000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	20					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45441783	45441783	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:45441783C>G	ENST00000415258.1	+	3	422	c.281C>G	c.(280-282)tCt>tGt	p.S94C	LARS2_ENST00000265537.3_Missense_Mutation_p.S94C|LARS2_ENST00000414984.1_Intron			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	94					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCTTATCCTTCTGGTAAGCTG	0.463000													34	79					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40872415	40872415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:40872415G>T	ENST00000409587.1	+	3	422	c.25G>T	c.(25-27)Gag>Tag	p.E9*	PLD3_ENST00000356508.5_Nonsense_Mutation_p.E9*|PLD3_ENST00000409419.1_Nonsense_Mutation_p.E9*|PLD3_ENST00000409735.4_Nonsense_Mutation_p.E9*|PLD3_ENST00000409281.1_Nonsense_Mutation_p.E9*			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	9					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GATGTACCAGGAGGTAGGTGG	0.597000													20	55					7.45023e-12	8.33623e-12	1	1	0
WDR45	11152	broad.mit.edu	37	X	48933303	48933303	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48933303G>C	ENST00000356463.3	-	9	1067	c.629C>G	c.(628-630)tCa>tGa	p.S210*	WDR45_ENST00000396681.4_Nonsense_Mutation_p.S209*|WDR45_ENST00000322995.8_Nonsense_Mutation_p.S220*|WDR45_ENST00000376368.2_Nonsense_Mutation_p.S210*|WDR45_ENST00000553851.1_Nonsense_Mutation_p.S107*|WDR45_ENST00000473974.1_Nonsense_Mutation_p.S209*|WDR45_ENST00000376372.3_Nonsense_Mutation_p.S209*|AF196779.12_ENST00000376358.3_Nonsense_Mutation_p.S107*|WDR45_ENST00000485908.1_Nonsense_Mutation_p.S174*	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	209					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	p.S210*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTGGGAGGCTGAGGCCACTAC	0.557000													23	26					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117761530	117761530	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117761530G>A	ENST00000276204.6	+	33	3726	c.3652G>A	c.(3652-3654)Gac>Aac	p.D1218N	DOCK11_ENST00000276202.7_Missense_Mutation_p.D1218N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1218					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCTGAGCACTGACAAAGACAC	0.383000													12	96					0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116260464	116260464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:116260464G>A	ENST00000261448.5	-	8	1074	c.835C>T	c.(835-837)Cca>Tca	p.P279S	CASQ2_ENST00000456138.2_Missense_Mutation_p.P208S	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	279					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCCTACCTGGATCACTCTTC	0.453000													18	110					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600327	54600327	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:54600327G>A	ENST00000284648.6	-	4	392	c.195C>T	c.(193-195)ttC>ttT	p.F65F	OSCAR_ENST00000358375.4_Silent_p.F65F|OSCAR_ENST00000359649.4_Silent_p.F69F|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000391761.1_Silent_p.F54F|OSCAR_ENST00000356532.3_Silent_p.F69F|OSCAR_ENST00000351806.4_Silent_p.F54F			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	65	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CTCCAGGCTTGAAAAGTCCAA	0.587000													45	118					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56458793	56458793	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:56458793G>A	ENST00000370754.5	-	48	12300	c.12301C>T	c.(12301-12303)Ctg>Ttg	p.L4101L	DST_ENST00000446842.2_Silent_p.L3597L|DST_ENST00000421834.2_Silent_p.L1835L|DST_ENST00000370769.4_Silent_p.L3923L|DST_ENST00000361203.3_Silent_p.L3921L|DST_ENST00000244364.6_Silent_p.L1509L|DST_ENST00000370788.2_Silent_p.L1835L|DST_ENST00000312431.6_Silent_p.L3921L			Q03001	DYST_HUMAN	dystonin	3921					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTCCTGCAGAGAGTGAGTT	0.413000													9	51					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1028259	1028259	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1028259C>G	ENST00000421673.2	-	14	1770	c.1720G>C	c.(1720-1722)Gag>Cag	p.E574Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	574	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTCAGTCTCACGCTCCAGA	0.662000													4	7					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179603040	179603040	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179603040C>T	ENST00000589042.1	-	49	14364	c.14140G>A	c.(14140-14142)Ggc>Agc	p.G4714S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G4543S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G3470S|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G4351S|TTN_ENST00000359218.5_Missense_Mutation_p.G4476S|TTN_ENST00000591111.1_Missense_Mutation_p.G4397S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4397	Ig-like 27.						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)			GCTAGGTGGCCCAGTGCTACT	0.483000													7	26					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002382	3002382	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:3002382C>G	ENST00000381127.1	+	6	726	c.505C>G	c.(505-507)Ctc>Gtc	p.L169V	ARSF_ENST00000537104.1_Missense_Mutation_p.L169V|ARSF_ENST00000359361.2_Missense_Mutation_p.L169V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	169						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGTTCACTCTCGTTGACAG	0.527000													52	90					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53825228	53825228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53825228C>T	ENST00000257863.4	+	11	1773	c.1693C>T	c.(1693-1695)Cag>Tag	p.Q565*	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Nonsense_Mutation_p.Q470*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	565					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)	CAGGAATCCTCAGCCTGCCTG	0.498000													32	45					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118375134	118375134	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118375134G>A	ENST00000534358.1	+	27	8550	c.8527G>A	c.(8527-8529)Gac>Aac	p.D2843N	KMT2A_ENST00000354520.4_Missense_Mutation_p.D2802N|KMT2A_ENST00000389506.5_Missense_Mutation_p.D2840N	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAACAGTGATGACTGTGGGAA	0.443000													56	129					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11145494	11145494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:11145494G>A	ENST00000409790.1	+	18	2221	c.1991G>A	c.(1990-1992)cGg>cAg	p.R664Q	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.R646Q	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	664								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAGAAGACCCGGCGGGTGAGT	0.602000													17	83					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321174	56321174	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:56321174C>T	ENST00000443188.1	-	5	1512	c.802G>A	c.(802-804)Gct>Act	p.A268T	NLRP11_ENST00000589824.2_Missense_Mutation_p.A268T|NLRP11_ENST00000360133.3_Missense_Mutation_p.A268T|NLRP11_ENST00000592953.1_Missense_Mutation_p.A169T|NLRP11_ENST00000589093.1_Missense_Mutation_p.A268T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	268	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAGCCTGGAGCCATTTTTCTC	0.458000													11	53					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251684	25251684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:25251684C>T	ENST00000328086.7	-	7	3160	c.2357G>A	c.(2356-2358)aGa>aAa	p.R786K		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	786					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCTCCTGCTTCTACCAAAGCA	0.453000													15	68					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901233	150901233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:150901233C>T	ENST00000261800.5	-	18	10933	c.10921G>A	c.(10921-10923)Gag>Aag	p.E3641K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3641	Cadherin 32.				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)			ACCAGCTCCTCGGGGGTGAGC	0.607000													8	35					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7080413	7080413	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:7080413G>A	ENST00000389658.3	-	2	198	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	35	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTGGTGCTGATGTGAGCAT	0.517000													23	67					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21927731	21927731	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:21927731G>A	ENST00000358242.3	+	8	983	c.490G>A	c.(490-492)Gag>Aag	p.E164K	DMTN_ENST00000381470.3_Missense_Mutation_p.E164K|DMTN_ENST00000443491.2_Missense_Mutation_p.E139K|DMTN_ENST00000432128.1_Missense_Mutation_p.E164K|DMTN_ENST00000415253.1_Missense_Mutation_p.E164K|DMTN_ENST00000517600.1_Missense_Mutation_p.E124K|DMTN_ENST00000523782.2_Missense_Mutation_p.E139K|DMTN_ENST00000265800.5_Missense_Mutation_p.E164K|DMTN_ENST00000519907.1_Missense_Mutation_p.E164K|DMTN_ENST00000523266.1_Missense_Mutation_p.E164K					dematin actin binding protein																		GCACCTCATCGAGGATCTCAT	0.612000													18	126					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236744562	236744562	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:236744562C>T	ENST00000366582.3	-	20	2829	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	HEATR1_ENST00000366581.2_Silent_p.K905K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	905					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TACACTGTGTCTTCTGAGAAG	0.408000													25	107					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46327115	46327115	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:46327115C>T	ENST00000339464.4	-	3	807	c.433G>A	c.(433-435)Gag>Aag	p.E145K	WNT7B_ENST00000410089.1_Missense_Mutation_p.E129K|WNT7B_ENST00000409496.3_Missense_Mutation_p.E149K|WNT7B_ENST00000410058.1_Missense_Mutation_p.E145K	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	145					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TTCCAGCCCTCGGCTTGGTTG	0.687000													15	69					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107564394	107564394	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:107564394G>C	ENST00000374736.3	-	34	5033	c.4639C>G	c.(4639-4641)Ccg>Gcg	p.P1547A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1547					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTTGACTCGGAGGAAGTGCT	0.423000													11	49					0	0	1	0	0
AGR2	10551	broad.mit.edu	37	7	16841376	16841376	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:16841376G>C	ENST00000419304.2	-	2	197	c.45C>G	c.(43-45)ctC>ctG	p.L15L	AGR2_ENST00000419572.2_Silent_p.L35L|AGR2_ENST00000401412.1_Silent_p.L15L	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	15					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GAGTGTAGGAGAGGGCCACAA	0.478000													14	80					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173486775	173486775	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:173486775C>A	ENST00000367714.3	-	23	3230	c.2808G>T	c.(2806-2808)atG>atT	p.M936I	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	936					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACTCTGTAAACATGTCTCTGG	0.403000													15	123					3.27435e-08	3.54081e-08	1	1	0
C1QTNF9	338872	broad.mit.edu	37	13	24890172	24890172	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24890172G>A	ENST00000382071.2	+	2	116	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	RP11-307N16.6_ENST00000382141.4_3'UTR|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E11K|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	11						collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GCTTGCCATTGAAATCTGCAC	0.517000													12	97					0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107959270	107959270	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:107959270C>G	ENST00000393094.2	+	12	1811	c.1195C>G	c.(1195-1197)Cag>Gag	p.Q399E		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	399					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTAAAAACTCAGCCTGAATC	0.338000													13	76					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131497667	131497667	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:131497667G>C	ENST00000291900.2	-	14	2492	c.2086C>G	c.(2086-2088)Cct>Gct	p.P696A		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	696					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TGGCTGACAGGAGAGATTCCC	0.532000													4	28					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103540254	103540254	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:103540254C>T	ENST00000358392.2	-	4	888	c.571G>A	c.(571-573)Gat>Aat	p.D191N	COL11A1_ENST00000353414.4_Missense_Mutation_p.D191N|COL11A1_ENST00000370096.3_Missense_Mutation_p.D191N|COL11A1_ENST00000512756.1_Missense_Mutation_p.D191N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	191	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACTTCTATCAAGTGGTTTC	0.368000													21	37					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391595	58391595	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:58391595C>A	ENST00000361987.4	+	2	283	c.203C>A	c.(202-204)aCc>aAc	p.T68N	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	68					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGTGAGCTGACCGAGGCAGAG	0.537000													13	68					2.27111e-07	2.43955e-07	1	1	0
SP1	6667	broad.mit.edu	37	12	53777068	53777068	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53777068C>G	ENST00000426431.2	+	3	1376	c.1316C>G	c.(1315-1317)tCt>tGt	p.S439C	SP1_ENST00000327443.4_Missense_Mutation_p.S446C	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	446	Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTTCCAAACTCTGGTCCCATC	0.557000													19	86					0	0	1	0	0
LINC01420	550643	broad.mit.edu	37	X	56763590	56763590	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:56763590C>T	ENST00000374922.4	+	0	468					NR_015367.2																						AGTAAAACATCTGCAGACCAA	0.303000													4	19					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34649344	34649344	+	Silent	SNP	C	C	T	rs7163178		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:34649344C>T	ENST00000537011.1	+	8	3517	c.3135C>T	c.(3133-3135)ctC>ctT	p.L1045L	NUTM1_ENST00000333756.4_Silent_p.L1017L|NUTM1_ENST00000438749.3_Silent_p.L1035L	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		ATGAGGAACTCTCCAACTTTG	0.502000													13	50					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035867	37035867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37035867C>T	ENST00000379242.3	+	15	1944	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	VIT_ENST00000404084.1_Missense_Mutation_p.R485C|VIT_ENST00000401530.1_Missense_Mutation_p.R512C|VIT_ENST00000497382.1_Missense_Mutation_p.R202C|VIT_ENST00000389975.3_Missense_Mutation_p.R533C|VIT_ENST00000379241.3_Missense_Mutation_p.R511C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	533	VWFA 2.					proteinaceous extracellular matrix		p.R548S(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CACGGACACGCGCATCGGGGC	0.587000													14	91					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40001459	40001459	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:40001459C>T	ENST00000308666.3	-	3	1313	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	393	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTAAATTTCGAGCAGTGGT	0.323000													26	71					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836179	12836179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12836179C>T	ENST00000357726.4	+	2	808	c.781C>T	c.(781-783)Cag>Tag	p.Q261*		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	261										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCACCTCTCAGTTCCTCAA	0.507000													51	127					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23119406	23119406	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:23119406G>C	ENST00000219689.7	-	2	731	c.732C>G	c.(730-732)ctC>ctG	p.L244L		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	244					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGAATGGTTGAGGTCTTCAT	0.512000													20	46					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861501	52861501	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:52861501G>T	ENST00000343457.3	-	4	1693	c.1687C>A	c.(1687-1689)Cac>Aac	p.H563N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	563						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAGACAGCGTGAGACGTGCCA	0.483000													52	120					2.79147e-13	3.15079e-13	1	1	0
CCDC34	91057	broad.mit.edu	37	11	27378991	27378991	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:27378991C>T	ENST00000317945.6	-	2	496	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	CCDC34_ENST00000328697.6_Missense_Mutation_p.E153K	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	153										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TCTTCTTTTTCTTTGCCAATA	0.433000													16	92					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29852916	29852916	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:29852916G>A	ENST00000357402.5	+	9	1329		c.e9-1		MVP_ENST00000395353.1_Splice_Site|MVP_ENST00000452209.2_Splice_Site	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein						mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTCGTCCCAAGGTGCGCGCTG	0.637000													9	28					0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74643117	74643117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:74643117G>A	ENST00000287936.4	+	6	695	c.539G>A	c.(538-540)gGa>gAa	p.G180E	HMGCR_ENST00000511206.1_Missense_Mutation_p.G180E|HMGCR_ENST00000343975.5_Missense_Mutation_p.G180E	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	180					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTTGTGATTGGAGTTGGTACC	0.353000													79	84					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97009217	97009217	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:97009217G>A	ENST00000216277.8	+	14	1496	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E426K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	426					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGCACCCAAAGAAAATCCCGA	0.358000													23	194					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65325173	65325173	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:65325173C>G	ENST00000301873.5	-	1	526	c.258G>C	c.(256-258)caG>caC	p.Q86H	LTBP3_ENST00000322147.4_Missense_Mutation_p.Q86H|LTBP3_ENST00000536982.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	86	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTTGGAGCCCTGCTGACAAC	0.692000													6	71					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43345029	43345029	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:43345029C>T	ENST00000344686.2	-	0	2175				MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAGCTCTCTCGGCTGGGCAT	0.607000													13	140					0	0	1	0	0
C3orf62	375341	broad.mit.edu	37	3	49314142	49314142	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49314142G>A	ENST00000343010.3	-	1	1200	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	55								p.S55F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGAGAAGGAGAGCGGCGC	0.587000													13	54					0	0	1	0	0
TVP23A	780776	broad.mit.edu	37	16	10911962	10911962	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:10911962G>A	ENST00000299866.8	-	2	378	c.87C>T	c.(85-87)atC>atT	p.I29I	TVP23A_ENST00000572980.1_Intron	NM_001079512.2	NP_001072980.1			trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)																		CAACACACCTGATCTTGGCTT	0.507000													3	10					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47459204	47459204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:47459204G>C	ENST00000265565.5	-	17	2972	c.2560C>G	c.(2560-2562)Ctg>Gtg	p.L854V	SCAP_ENST00000545718.1_Missense_Mutation_p.L461V|SCAP_ENST00000441517.2_Missense_Mutation_p.L598V	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	854	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGGTGTCTCAGGGGAGGGCTG	0.657000													5	15					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65147237	65147237	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:65147237G>A	ENST00000381210.3	-	10	983	c.873C>T	c.(871-873)ttC>ttT	p.F291F	TECRL_ENST00000507440.1_Silent_p.F291F	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	291					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACATCCATGTGAAGGGGTTAT	0.338000													11	60					0	0	1	0	0
ADM	133	broad.mit.edu	37	11	10327968	10327968	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:10327968G>A	ENST00000528655.1	+	3	955	c.338G>A	c.(337-339)gGg>gAg	p.G113E	ADM_ENST00000534464.1_Missense_Mutation_p.G66E|ADM_ENST00000526492.1_Silent_p.R123R|ADM_ENST00000530439.1_Missense_Mutation_p.G45E|ADM_ENST00000525063.1_Missense_Mutation_p.G113E|ADM_ENST00000278175.5_Missense_Mutation_p.G113E			P35318	ADML_HUMAN	adrenomedullin	113					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		TGCCGCTTCGGGACGTGCACG	0.637000													10	33					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27382234	27382234	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27382234T>C	ENST00000323372.4	+	6	1287	c.961T>C	c.(961-963)Tac>Cac	p.Y321H	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	321					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GAGCTGCATGTACACGGTAAG	0.567000													30	133					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80391557	80391557	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80391557C>T	ENST00000337014.6	+	5	780	c.306C>T	c.(304-306)ttC>ttT	p.F102F	HEXDC_ENST00000577944.1_Silent_p.F102F|HEXDC_ENST00000327949.9_Silent_p.F102F	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	102					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACACGGCCTTCGCCCACCTGC	0.652000													17	56					0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100533744	100533744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:100533744C>G	ENST00000370152.3	+	6	834	c.698C>G	c.(697-699)cCt>cGt	p.P233R	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	233					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAAGCTGACCCTTTTGCGGTA	0.413000													6	34					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863026	10863026	+	RNA	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:10863026G>A	ENST00000559480.1	+	0	322																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TCTGAGATCTGAGGACACGGC	0.507000													37	506					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67265987	67265987	+	Silent	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67265987A>C	ENST00000258201.4	-	14	2404	c.2157T>G	c.(2155-2157)gcT>gcG	p.A719A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	719	FH2.|Interaction with ROCK1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGTTGAGCAGAGCAGCCTTAA	0.567000													4	49					0	0	1	0	0
GMPPB	29925	broad.mit.edu	37	3	49759286	49759286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49759286C>T	ENST00000480687.1	-	10	1098	c.982G>A	c.(982-984)Gag>Aag	p.E328K	AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Missense_Mutation_p.E355K|GMPPB_ENST00000308388.6_Missense_Mutation_p.E328K			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	328					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGACGTCCTCACCCAGCACT	0.597000													14	40					0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20205794	20205794	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:20205794C>A	ENST00000407540.3	-	2	563	c.501G>T	c.(499-501)caG>caT	p.Q167H	MATN3_ENST00000421259.2_Missense_Mutation_p.Q167H	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	167	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTGCTGTCTGGATGGCTA	0.567000													14	52					2.32078e-09	2.54812e-09	1	1	0
MAP1A	4130	broad.mit.edu	37	15	43814035	43814035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:43814035G>A	ENST00000382031.1	+	5	1109	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	MAP1A_ENST00000300231.5_Missense_Mutation_p.D122N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D122N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	122	Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGTTACAGCGACTGGGTGAA	0.552000													22	70					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3816809	3816809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3816809C>T	ENST00000262961.4	-	13	1976	c.1966G>A	c.(1966-1968)Gtc>Atc	p.V656I		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	656						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTCGCATGACGCCTTTCAGG	0.667000													3	5					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32154464	32154464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32154464C>T	ENST00000375050.4	-	8	1387	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	373							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CGGAGTGATTCCACCTGCAGG	0.552000													15	38					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142257	55142257	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:55142257C>T	ENST00000370862.3	+	5	1178	c.842C>T	c.(841-843)cCa>cTa	p.P281L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	281					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAGGACAGCCAACGAAGTCC	0.517000													9	37					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151270192	151270192	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:151270192C>T	ENST00000367321.3	+	16	1923	c.1649C>T	c.(1648-1650)cCg>cTg	p.P550L		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	550	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AAGACTGATCCGAGCACACTG	0.453000													15	17					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463525	26463525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:26463525C>T	ENST00000256737.3	+	2	959	c.107C>T	c.(106-108)tCc>tTc	p.S36F	ANO3_ENST00000531646.1_Missense_Mutation_p.S36F|ANO3_ENST00000525139.1_Missense_Mutation_p.S20F|ANO3_ENST00000537978.1_Missense_Mutation_p.S20F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	36						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCTCGGAGATCCCTGCCTTGC	0.438000													29	127					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307918	47307918	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:47307918C>T	ENST00000377065.4	-	5	1890	c.1251G>A	c.(1249-1251)ggG>ggA	p.G417G	ZNF41_ENST00000313116.7_Silent_p.G417G|ZNF41_ENST00000397050.2_Silent_p.G427G	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	459						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGAAAGCCTTCCCACATTCAT	0.453000													16	129					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594955	41594955	+	Missense_Mutation	SNP	G	G	A	rs148044792		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41594955G>A	ENST00000330436.3	+	2	302	c.302G>A	c.(301-303)cGa>cAa	p.R101Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	101			R -> Q (in allele CYP2A13*4).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TTCAGCGGGCGAGGCGAGCAG	0.642000													16	65					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30795476	30795476	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30795476G>C	ENST00000262525.4	-	3	380	c.173C>G	c.(172-174)tCa>tGa	p.S58*		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CATCTCTGTTGAGTCCTTGGA	0.597000													4	15					0	0	1	0	0
RPL32	6161	broad.mit.edu	37	3	12877707	12877707	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:12877707C>T	ENST00000429711.2	-	4	393	c.294G>A	c.(292-294)gaG>gaA	p.E98E	RPL32_ENST00000273223.6_Silent_p.E116E|RPL32_ENST00000396953.2_Silent_p.E98E|RPL32_ENST00000435983.1_Silent_p.E98E|RPL32_ENST00000396957.1_Silent_p.E98E	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	98					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGTGAGCGATCTCGGCACAGT	0.522000													37	45					0	0	1	0	0
FBXO32	114907	broad.mit.edu	37	8	124516888	124516888	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:124516888C>G	ENST00000517956.1	-	8	1125	c.934G>C	c.(934-936)Gat>Cat	p.D312H	FBXO32_ENST00000443022.2_Missense_Mutation_p.D219H	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	312										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGAAGGGTATCTCCATACTGC	0.498000													9	48					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036422	32036422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32036422G>A	ENST00000375244.3	-	17	6166	c.5965C>T	c.(5965-5967)Cgc>Tgc	p.R1989C	TNXB_ENST00000375247.2_Missense_Mutation_p.R1989C			P22105	TENX_HUMAN	tenascin XB	2071	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCCCCAGGCGAGGCTTGATG	0.622000													16	51					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157738293	157738293	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:157738293A>G	ENST00000361516.3	-	5	842	c.794T>C	c.(793-795)gTg>gCg	p.V265A	FCRL2_ENST00000392274.3_Missense_Mutation_p.V265A|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	265	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTCTCTTTCACAGCTGGGAT	0.507000													56	247					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601143	48601143	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48601143G>A	ENST00000323776.5	+	12	1924	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E551K	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	551					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GAAAGTACTGGAGGTAAGGGA	0.527000													8	36					0	0	1	0	0
TATDN3	128387	broad.mit.edu	37	1	212965324	212965324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:212965324G>C	ENST00000366974.4	+	1	155	c.61G>C	c.(61-63)Gac>Cac	p.D21H	TATDN3_ENST00000530441.1_Missense_Mutation_p.D21H|TATDN3_ENST00000531963.1_Missense_Mutation_p.D21H|TATDN3_ENST00000532324.1_Missense_Mutation_p.D21H|TATDN3_ENST00000366973.4_Missense_Mutation_p.D21H|TATDN3_ENST00000526997.1_Missense_Mutation_p.D21H|TATDN3_ENST00000526641.1_Missense_Mutation_p.D21H	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	21						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CCCGGACTTTGACCGCGTATG	0.657000													6	18					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41709440	41709440	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41709440C>T	ENST00000310054.4	+	7	1278	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	CYP2S1_ENST00000542619.1_Silent_p.D79D	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	354					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTTACACCGACGCGGTTCTGC	0.672000													4	12					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271458	65271458	+	RNA	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:65271458G>C	ENST00000534336.1	+	0	6226					NR_002819.2																						ACAGTGATTAGAGTAATACTT	0.323000													7	30					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913088	40913088	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:40913088C>T	ENST00000346991.5	+	11	1094	c.704C>T	c.(703-705)tCa>tTa	p.S235L	CASC5_ENST00000399668.2_Missense_Mutation_p.S209L|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	235	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AACACTTCTTCAGAAAATAAA	0.308000													10	49					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221535	161221535	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:161221535C>G	ENST00000327928.4	+	4	1239	c.1239C>G	c.(1237-1239)ttC>ttG	p.F413L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	413	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGAAGCAGTTCAAGTCCAGAG	0.473000													5	42					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78219093	78219093	+	RNA	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:78219093G>C	ENST00000567226.1	-	0	95																											CCTTTTTCTTGACTGCTGCCA	0.517000													16	28					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428686	190428686	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:190428686G>A	ENST00000261024.2	-	7	1452	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	342					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TCAAAATACTGAGGATGGAAC	0.478000													7	48					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18668067	18668067	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:18668067G>T	ENST00000308799.4	+	7	1752	c.1533G>T	c.(1531-1533)ctG>ctT	p.L511L	FBXW10_ENST00000395665.4_Silent_p.L482L|FBXW10_ENST00000395667.1_Silent_p.L482L|FBXW10_ENST00000301938.4_Silent_p.L482L			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	482										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						ACTGGGATCTGAAAAGTGGGG	0.483000													15	40					2.23348e-06	2.36562e-06	1	1	0
ACAD9	28976	broad.mit.edu	37	3	128631370	128631370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:128631370G>A	ENST00000308982.7	+	18	1867	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	RP11-723O4.6_ENST00000508239.1_Intron|ACAD9_ENST00000511526.1_3'UTR|KIAA1257_ENST00000511438.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	596						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AAACCTAGATGAGCAGATTAA	0.512000													21	28					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	401636	401636	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:401636G>C	ENST00000380956.4	+	7	1084	c.958G>C	c.(958-960)Gcc>Ccc	p.A320P		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	320					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCTCTGGATGGCCCCCGACGG	0.612000			T	IGH@	MM								7	19					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154573729	154573729	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:154573729C>T	ENST00000368474.4	-	2	1588	c.1389G>A	c.(1387-1389)ttG>ttA	p.L463L	ADAR_ENST00000368471.3_Silent_p.L168L|ADAR_ENST00000292205.5_Silent_p.L506L	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	463					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)		GGATACTATTCAAGTCATCTG	0.498000													8	68					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1978737	1978737	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:1978737C>T	ENST00000255641.8	+	5	930	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	145	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGATGATCGCCATCCAGC	0.721000													3	4					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684352	100684352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100684352G>A	ENST00000306151.4	+	3	9719	c.9655G>A	c.(9655-9657)Gaa>Aaa	p.E3219K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3219	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E3219K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGGAATGAC	0.498000													93	430					0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	138719	138719	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:138719C>T	ENST00000399953.3	-	13	1921	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.E328K	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	508							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CGGAGGTCCTCAGGGTTCTGG	0.617000													7	16					0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201761901	201761901	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:201761901C>G	ENST00000409020.1	+	5	1123	c.829C>G	c.(829-831)Cat>Gat	p.H277D	NIF3L1_ENST00000359683.4_Missense_Mutation_p.H250D|NIF3L1_ENST00000416651.1_Missense_Mutation_p.H277D|NIF3L1_ENST00000409588.1_Intron|NIF3L1_ENST00000409357.1_Missense_Mutation_p.H277D			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	277					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						AAAACTATCTCATATTCGCTT	0.423000													27	104					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456939	110456939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:110456939C>T	ENST00000378402.5	+	38	4945	c.4841C>T	c.(4840-4842)tCa>tTa	p.S1614L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1614	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGAGGATTCAATTACATGT	0.383000										HNSCC(38;0.096)			38	237					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152719867	152719867	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:152719867C>G	ENST00000341594.5	-	52	7952	c.7351G>C	c.(7351-7353)Gag>Cag	p.E2451Q	SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367255.5_Splice_Site			Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2413					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCATAGACTCTTTTGAAAGa	0.368000										HNSCC(10;0.0054)			17	54					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16641900	16641900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:16641900G>A	ENST00000375592.3	-	2	230	c.14C>T	c.(13-15)tCg>tTg	p.S5L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	5										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTCACTGTCCGAGGAGCTGGC	0.458000													8	55					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69646312	69646312	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:69646312C>T	ENST00000453994.2	+	6	816	c.455C>T	c.(454-456)tCa>tTa	p.S152L	GDPD2_ENST00000374382.3_Missense_Mutation_p.S152L|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Missense_Mutation_p.S73L|GDPD2_ENST00000536730.1_Missense_Mutation_p.S73L	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	152					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TTGCGTGTGTCACTGCAGGTG	0.592000													14	17					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73581010	73581010	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:73581010C>T	ENST00000261973.7	+	18	2693	c.2408C>T	c.(2407-2409)tCa>tTa	p.S803L	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.S803L	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	803	PWI.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	p.S803L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GCTCATAGTTCACCCCAGAGC	0.244000													42	71					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42977680	42977680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:42977680C>T	ENST00000331373.5	+	5	968	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1			protein-O-mannose kinase	238																	AACCACAGCTCCGGGATGCTG	0.557000													8	33					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96215522	96215522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:96215522C>T	ENST00000437043.3	+	2	844	c.133C>T	c.(133-135)Cac>Tac	p.H45Y	ERAP2_ENST00000379904.4_Missense_Mutation_p.H45Y|ERAP2_ENST00000510309.1_Missense_Mutation_p.H45Y|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	45					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATCTAGTTATCACTTCACTGA	0.458000													14	39					0	0	1	0	0
PGA5	5222	broad.mit.edu	37	11	61017253	61017253	+	Missense_Mutation	SNP	G	G	T	rs139795742		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61017253G>T	ENST00000312403.5	+	7	1071	c.886G>T	c.(886-888)Gac>Tac	p.D296Y	PGA5_ENST00000541528.1_Missense_Mutation_p.D36Y|PGA4_ENST00000422676.2_Missense_Mutation_p.D296Y|PGA5_ENST00000451616.2_Missense_Mutation_p.D142Y	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	296					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						CATCCAGAGCGACATCGGAGC	0.612000													41	196					6.48837e-15	7.35576e-15	1	1	0
FOXD4L3	286380	broad.mit.edu	37	9	70918850	70918850	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:70918850G>C	ENST00000342833.2	+	1	1575	c.983G>C	c.(982-984)aGa>aCa	p.R328T		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	328						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TCAGCATTGAGAGTATTATGC	0.632000													20	96					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73226123	73226123	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73226123G>T	ENST00000272433.2	-	9	619	c.489C>A	c.(487-489)ttC>ttA	p.F163L	SFXN5_ENST00000410065.1_Missense_Mutation_p.F163L|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	163					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ATCCCTGGATGAACTTGGATG	0.592000													8	32					5.18039e-06	5.4689e-06	1	1	0
SUPT5H	6829	broad.mit.edu	37	19	39963872	39963872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:39963872C>A	ENST00000599117.1	+	25	2655	c.2288C>A	c.(2287-2289)tCg>tAg	p.S763*	SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.S759*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.S763*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.S759*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.S763*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	763	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCATGACCTCGACCTATGGG	0.652000													16	92					5.01169e-05	5.23507e-05	1	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17139154	17139154	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:17139154G>C	ENST00000265970.7	-	18	3099	c.3100C>G	c.(3100-3102)Ctc>Gtc	p.L1034V	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L654V|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1034					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	ACTGACAGGAGAGCACCCAAA	0.413000													14	61					0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862395	1862395	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1862395G>C	ENST00000381906.1	+	7	480	c.411G>C	c.(409-411)ctG>ctC	p.L137L	TNNI2_ENST00000381911.1_Silent_p.L137L|TNNI2_ENST00000252898.7_Silent_p.L137L|TNNI2_ENST00000381905.3_Silent_p.L137L	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	137					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCATGGACCTGAGGGCCAACC	0.652000													16	24					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4933533	4933533	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:4933533G>C	ENST00000345988.2	-	22	5212	c.5123C>G	c.(5122-5124)tCa>tGa	p.S1708*	PPL_ENST00000590782.2_Nonsense_Mutation_p.S1706*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1708					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GTGTATCACTGAGGACTCCCC	0.557000													20	57					0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41341064	41341064	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:41341064C>G	ENST00000323563.6	-	2	294	c.258G>C	c.(256-258)gaG>gaC	p.E86D		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	86						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TGTCTTGGCTCTCTGAAGTCT	0.373000													28	75					0	0	1	0	0
PIANP	196500	broad.mit.edu	37	12	6804697	6804697	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6804697G>T	ENST00000534837.1	-	5	955	c.726C>A	c.(724-726)ttC>ttA	p.F242L	PIANP_ENST00000320591.5_Missense_Mutation_p.F242L|PIANP_ENST00000540656.1_Missense_Mutation_p.F242L	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein									p.F242F(2)									GTGAGTCCCCGAAGGCCCCCA	0.692000													11	45					0.000673444	0.000691689	1	1	0
P4HTM	54681	broad.mit.edu	37	3	49040020	49040020	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49040020G>T	ENST00000343546.4	+	4	1083	c.715G>T	c.(715-717)Gat>Tat	p.D239Y	P4HTM_ENST00000383729.4_Missense_Mutation_p.D239Y	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	239	EF-hand 2.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GGCTGACCCTGATGGTGACGG	0.562000													13	72					2.27111e-07	2.43955e-07	1	1	0
ARAP2	116984	broad.mit.edu	37	4	36122942	36122942	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:36122942C>G	ENST00000303965.4	-	23	4242	c.3753G>C	c.(3751-3753)caG>caC	p.Q1251H		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1251	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTGAGCATTTCTGAACCCTGT	0.338000													27	77					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394796	94394796	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:94394796C>A	ENST00000267594.5	+	3	658	c.351C>A	c.(349-351)ctC>ctA	p.L117L	FAM181A_ENST00000557000.2_Silent_p.L55L|FAM181A_ENST00000556222.1_Silent_p.L55L|FAM181A_ENST00000557719.1_Silent_p.L55L	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	117										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						ATTCCCGGCTCCCGCGGGGCC	0.647000													16	19					1.3612e-06	1.44649e-06	1	1	0
FADS3	3995	broad.mit.edu	37	11	61646279	61646279	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61646279G>C	ENST00000540820.1	-	4	635	c.563C>G	c.(562-564)tCc>tGc	p.S188C	FADS3_ENST00000278829.2_Missense_Mutation_p.S188C|FADS3_ENST00000527697.1_Missense_Mutation_p.S64C|FADS3_ENST00000525588.1_Missense_Mutation_p.S160C			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	188					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTGAAGATGGAGGCATGGCC	0.642000													7	44					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71726869	71726869	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:71726869C>G	ENST00000393695.3	-	15	2011	c.1680G>C	c.(1678-1680)ctG>ctC	p.L560L	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.L560L|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	560					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCTTCTGCTTCAGGCTACTGC	0.612000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	150					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120703971	120703971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:120703971G>A	ENST00000263708.2	+	17	2341	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	PTPN4_ENST00000544261.1_Missense_Mutation_p.E157K	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	524	PDZ.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GAAACCTGATGAAAATGGGAG	0.269000													21	79					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069835	114069835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:114069835C>T	ENST00000462705.1	-	11	1692	c.871G>A	c.(871-873)Gag>Aag	p.E291K	ZBTB20_ENST00000474710.1_Missense_Mutation_p.E364K|ZBTB20_ENST00000471418.1_Missense_Mutation_p.E291K|ZBTB20_ENST00000393785.2_Missense_Mutation_p.E291K|ZBTB20_ENST00000481632.1_Missense_Mutation_p.E291K|ZBTB20_ENST00000464560.1_Missense_Mutation_p.E291K|ZBTB20_ENST00000357258.3_Missense_Mutation_p.E291K	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E291K(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCGGTGCCCTCGGCCTGGTCT	0.607000													16	52					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20130924	20130924	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:20130924G>C	ENST00000395530.2	+	3	2027	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q	SPECC1_ENST00000395527.4_Missense_Mutation_p.E688Q|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395522.2_Missense_Mutation_p.E607Q|SPECC1_ENST00000536879.1_Missense_Mutation_p.E28Q|SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000584527.1_Missense_Mutation_p.E106Q|SPECC1_ENST00000395529.3_Missense_Mutation_p.E688Q|SPECC1_ENST00000395525.3_Missense_Mutation_p.E607Q|SPECC1_ENST00000261503.5_Missense_Mutation_p.E688Q	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	688						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ACTCATCAGTGAGCTAGAAAG	0.473000													11	41					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127872571	127872571	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:127872571C>T	ENST00000254730.6	+	1	275	c.221C>T	c.(220-222)gCg>gTg	p.A74V	EEFSEC_ENST00000483457.1_Missense_Mutation_p.A74V|RUVBL1_ENST00000464873.1_5'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	74						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TTCCAGGCAGCGCCCGAGGCC	0.716000													2	2					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607325	53607325	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53607325C>T	ENST00000425354.2	-	8	1460	c.973G>A	c.(973-975)Gac>Aac	p.D325N	RARG_ENST00000327550.3_Missense_Mutation_p.D253N|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.D325N|RARG_ENST00000338561.5_Missense_Mutation_p.D314N|RARG_ENST00000543726.1_Missense_Mutation_p.D303N	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	325	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GTCTCGGTGTCATCCATCTCC	0.647000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	22					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391557	58391557	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:58391557G>A	ENST00000361987.4	+	2	245	c.165G>A	c.(163-165)ggG>ggA	p.G55G	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	55					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTGCGGATGGGATGCCAGTGG	0.527000													11	75					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:1313343C>T	ENST00000296839.2	+	1	669	c.404C>T	c.(403-405)tCg>tTg	p.S135L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	p.S135L(1)		lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.687000													10	20					0	0	1	0	0
CLTB	1212	broad.mit.edu	37	5	175843355	175843355	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:175843355C>T	ENST00000310418.4	-	1	215	c.10G>A	c.(10-12)Gac>Aac	p.D4N	CLTB_ENST00000345807.2_Missense_Mutation_p.D4N	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	4					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		AAGCCAAAGTCATCAGCCATT	0.741000													6	15					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66627354	66627354	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627354C>G	ENST00000309602.4	+	2	1839	c.1596C>G	c.(1594-1596)gtC>gtG	p.V532V	PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	532						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCTTACTGGTCTTCACTGTGG	0.721000													9	25					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62200734	62200734	+	Silent	SNP	G	G	A	rs147054984		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:62200734G>A	ENST00000467148.1	-	4	924	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CAGGGTGGCCGAGCGCCAGAT	0.692000													5	14					0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50017149	50017149	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:50017149C>T	ENST00000221466.5	+	3	570	c.84C>T	c.(82-84)ctC>ctT	p.L28L	FCGRT_ENST00000426395.3_Silent_p.L28L|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Silent_p.L28L|FCGRT_ENST00000594823.1_3'UTR	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	28	Alpha-1.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		AAAGCCACCTCTCCCTCCTGT	0.612000													72	223					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75065508	75065508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:75065508C>T	ENST00000326665.5	-	11	1815	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.D336N	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	533	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTTTTTATCATCCAAAGGT	0.398000													58	115					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100432575	100432575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:100432575C>T	ENST00000240851.4	+	2	386	c.46C>T	c.(46-48)Caa>Taa	p.Q16*	TFG_ENST00000476228.1_Nonsense_Mutation_p.Q16*|TFG_ENST00000418917.2_Nonsense_Mutation_p.Q16*|TFG_ENST00000490574.1_Nonsense_Mutation_p.Q16*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	16					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CATCAAAGCTCAACTTGGGGA	0.378000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								38	79					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021665	7021665	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:7021665C>G	ENST00000278314.4	-	3	1564	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q	ZNF214_ENST00000536068.1_Missense_Mutation_p.E417Q	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CCACAGTCTTCACATTTATAA	0.398000													54	79					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107624	45107624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:45107624G>T	ENST00000340648.4	+	13	1486	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	457					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CACTGGGGAGGAGAGTGGCTC	0.637000													18	41					3.41278e-10	3.77928e-10	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111400253	111400253	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:111400253G>A	ENST00000428084.1	-	40	4418	c.4146C>T	c.(4144-4146)ttC>ttT	p.F1382F	DOCK4_ENST00000437633.1_Silent_p.F1373F|DOCK4_ENST00000494651.2_Silent_p.F256F			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1373	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTCTGCCTGGAAGATGGTCT	0.547000													23	113					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65041219	65041219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:65041219G>C	ENST00000298705.1	+	8	676	c.580G>C	c.(580-582)Gaa>Caa	p.E194Q	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	194																	AAGTGAATTAGAAGCAGCACA	0.433000													16	51					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43447825	43447825	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:43447825C>T	ENST00000266254.7	-	9	1200	c.960G>A	c.(958-960)ctG>ctA	p.L320L	TTLL1_ENST00000331018.7_Intron|AL022476.2_ENST00000443063.1_RNA	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	320	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GCCAGGGCTTCAGCTTGTCGT	0.572000													17	59					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198274635	198274635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198274635C>T	ENST00000335508.6	-	7	854	c.763G>A	c.(763-765)Gat>Aat	p.D255N		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa		Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGTGTAGGATCCCATATTTTT	0.572000			Mis		myelodysplastic syndrome								26	130					0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36550615	36550615	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36550615G>C	ENST00000207457.3	+	2	220	c.93G>C	c.(91-93)caG>caC	p.Q31H		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	31					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCAGCTGCAGCGAGATGCTT	0.617000													9	64					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66627252	66627252	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627252C>A	ENST00000309602.4	+	2	1737	c.1494C>A	c.(1492-1494)tcC>tcA	p.S498S	PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	498						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCCATTTCTCCACGCTGCCGG	0.716000													6	12					0.00116845	0.00119534	1	1	0
SP1	6667	broad.mit.edu	37	12	53776785	53776785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53776785C>T	ENST00000426431.2	+	3	1093	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	SP1_ENST00000327443.4_Nonsense_Mutation_p.Q352*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	352	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GACCAACTCTCAAGGCCAGAC	0.502000													8	49					0	0	1	0	0
ASF1B	55723	broad.mit.edu	37	19	14232407	14232407	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232407G>C	ENST00000263382.3	-	3	838	c.339C>G	c.(337-339)gtC>gtG	p.V113V	ASF1B_ENST00000592798.1_Intron|ASF1B_ENST00000474890.1_Silent_p.V113V	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	113	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						ACTCGTTGTTGACGTAGTAGC	0.577000													12	68					0	0	1	0	0
C10orf82	143379	broad.mit.edu	37	10	118425186	118425186	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:118425186G>C	ENST00000369210.3	-	3	261	c.207C>G	c.(205-207)gtC>gtG	p.V69V	C10orf82_ENST00000588184.1_Silent_p.V69V	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	69										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CCTCGGAGTTGACAGGTTTCA	0.567000													9	42					0	0	1	0	0
MIR494	574452	broad.mit.edu	37	14	101495984	101495984	+	RNA	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:101495984G>A	ENST00000349529.2	+	0	14					NR_030174.1																						ACTCGAAGGAGAGGTTGTCCG	0.418000													53	45					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34923593	34923593	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:34923593G>C	ENST00000304718.4	+	6	935	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	207					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGAAACACTAGAAACATATCT	0.418000													16	61					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197865158	197865158	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:197865158C>G	ENST00000328737.2	-	23	2505	c.2429G>C	c.(2428-2430)aGa>aCa	p.R810T	ANKRD44_ENST00000337207.5_Missense_Mutation_p.R810T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R810T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R827T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	835							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTGTCATCTCTACAACTGAC	0.378000													7	51					0	0	1	0	0
TMEM245	23731	broad.mit.edu	37	9	111798489	111798489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:111798489G>A	ENST00000374586.3	-	16	2427	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	799						integral to membrane											TACTTACCCTGATATGTCAGA	0.373000													5	38					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101348170	101348170	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:101348170C>T	ENST00000534062.1	-	1	3014	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	986										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCGTCTTGTTCTGGCAGCTCC	0.582000													22	140					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1466922	1466922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:1466922C>G	ENST00000535453.1	+	14	5335	c.3622C>G	c.(3622-3624)Ccc>Gcc	p.P1208A	APC2_ENST00000233607.2_Missense_Mutation_p.P1208A|APC2_ENST00000238483.4_Missense_Mutation_p.P934A|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1208	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCATGCCTCCCAGCCGGAG	0.697000													3	6					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53608271	53608271	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53608271C>T	ENST00000425354.2	-	6	1082	c.595G>A	c.(595-597)Gag>Aag	p.E199K	RARG_ENST00000327550.3_Missense_Mutation_p.E127K|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.E199K|RARG_ENST00000338561.5_Missense_Mutation_p.E188K|RARG_ENST00000543726.1_Missense_Mutation_p.E177K	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	199	Hinge.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGGAAAGTCTCCTGATGGGCT	0.552000													21	51					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63520106	63520106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:63520106G>C	ENST00000377819.5	+	5	3020	c.2866G>C	c.(2866-2868)Gac>Cac	p.D956H	RTN3_ENST00000341307.2_Missense_Mutation_p.D160H|RTN3_ENST00000339997.4_Missense_Mutation_p.D937H|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.D844H|RTN3_ENST00000537981.1_Missense_Mutation_p.D160H|RTN3_ENST00000356000.3_Missense_Mutation_p.D179H	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	956	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGATCTGGTTGACTCCTTGAA	0.413000													36	144					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202283965	202283965	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202283965G>T	ENST00000367278.3	+	17	1692	c.1603G>T	c.(1603-1605)Gag>Tag	p.E535*	LGR6_ENST00000255432.7_Nonsense_Mutation_p.E483*|LGR6_ENST00000439764.2_Nonsense_Mutation_p.E396*	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	535						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCTGGAGATGGAGGACTCAAA	0.572000													7	30					0.00198382	0.00202306	1	1	0
ALDOA	226	broad.mit.edu	37	16	30078815	30078815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30078815G>A	ENST00000566897.1	+	6	1309	c.157G>A	c.(157-159)Gag>Aag	p.E53K	ALDOA_ENST00000564595.2_Missense_Mutation_p.E107K|ALDOA_ENST00000564546.1_Missense_Mutation_p.E53K|ALDOA_ENST00000569798.1_Missense_Mutation_p.E53K|ALDOA_ENST00000412304.2_Missense_Mutation_p.E53K|ALDOA_ENST00000338110.5_Missense_Mutation_p.E53K|ALDOA_ENST00000569545.1_Missense_Mutation_p.E53K|ALDOA_ENST00000563060.2_Missense_Mutation_p.E53K|ALDOA_ENST00000395240.3_Missense_Mutation_p.E53K|ALDOA_ENST00000395248.1_Missense_Mutation_p.E107K			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	53					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CGAGAACACCGAGGAGAACCG	0.607000													9	48					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98844712	98844712	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:98844712T>G	ENST00000477737.1	+	15	2271	c.2067T>G	c.(2065-2067)agT>agG	p.S689R		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	689										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGGGTCACAGTGATCTGGAGA	0.418000													20	88					0	0	1	0	0
TRADD	8717	broad.mit.edu	37	16	67190499	67190499	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67190499G>A	ENST00000345057.4	-	2	533	c.65C>T	c.(64-66)tCg>tTg	p.S22L	TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	22					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTTGTCCAGCGAGGACTCCAC	0.617000											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	136					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76750481	76750481	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:76750481C>A	ENST00000261183.3	-	23	2941	c.2462G>T	c.(2461-2463)aGa>aTa	p.R821I	OSBPL8_ENST00000393249.2_Missense_Mutation_p.R779I|OSBPL8_ENST00000393250.4_Missense_Mutation_p.R779I	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	821					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TCCTTTCTTTCTTCTTGTACT	0.289000													14	34					1.3612e-06	1.44649e-06	1	1	0
H1FX	8971	broad.mit.edu	37	3	129034497	129034497	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:129034497C>G	ENST00000333762.4	-	1	623	c.249G>C	c.(247-249)caG>caC	p.Q83H	H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	83	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						TGCGCCCATTCTGCTGGTCGA	0.612000													3	3					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95062233	95062233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:95062233C>T	ENST00000545558.1	-	14	3733	c.3241G>A	c.(3241-3243)Gac>Aac	p.D1081N	NOL8_ENST00000542053.1_Missense_Mutation_p.D1013N|NOL8_ENST00000358855.4_Missense_Mutation_p.D1013N|NOL8_ENST00000535387.1_Missense_Mutation_p.D1043N|NOL8_ENST00000442668.2_Missense_Mutation_p.D1081N			Q76FK4	NOL8_HUMAN	nucleolar protein 8	1081					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GAACTGCTGTCTTGTAAACGA	0.398000													47	216					0	0	1	0	0
TLCD1	116238	broad.mit.edu	37	17	27052547	27052547	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27052547C>G	ENST00000292090.3	-	2	339	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	TLCD1_ENST00000394933.3_Missense_Mutation_p.E30Q	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	77	TLC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					CACGCCGTCTCAATCTCCACT	0.542000													24	110					0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356723	104356723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:104356723C>T	ENST00000374806.1	-	1	560	c.490G>A	c.(490-492)Gag>Aag	p.E164K	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	161							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TTGTGGATCTCCAGGTCTCTG	0.478000													10	77					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96134726	96134726	+	RNA	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96134726C>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ACAGGCCCTTCTTTTCTCTCA	0.512000			T	TRA@	T-ALL								25	141					7.87624e-14	8.89788e-14	1	1	0
IL9R	3581	broad.mit.edu	37	X	155232650	155232650	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:155232650C>T	ENST00000424344.3	+	3	412	c.45C>T	c.(43-45)gtC>gtT	p.V15V	IL9R_ENST00000244174.5_Silent_p.V36V|IL9R_ENST00000540897.1_Silent_p.V73V|IL9R_ENST00000369423.2_Silent_p.V83V			Q01113	IL9R_HUMAN	interleukin 9 receptor	36					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCACCTGTGTCTGCTTGGGAG	0.607000													12	113					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493683	55493683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55493683C>T	ENST00000543010.1	+	6	760	c.617C>T	c.(616-618)tCa>tTa	p.S206L	NLRP2_ENST00000391721.4_Missense_Mutation_p.S182L|NLRP2_ENST00000339757.7_Missense_Mutation_p.S184L|NLRP2_ENST00000537859.1_Missense_Mutation_p.S184L|NLRP2_ENST00000263437.6_Missense_Mutation_p.S203L|NLRP2_ENST00000427260.2_Missense_Mutation_p.S183L|NLRP2_ENST00000538819.1_Missense_Mutation_p.S182L|NLRP2_ENST00000448584.2_Missense_Mutation_p.S206L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	206					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGCCCTTCTCATACACGGTG	0.542000													24	94					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33662105	33662105	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:33662105G>C	ENST00000504830.1	-	6	1291	c.956C>G	c.(955-957)tCt>tGt	p.S319C	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S319C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	319	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCAGAAGCTAGACAGTGTCTT	0.488000										HNSCC(64;0.19)			31	69					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37443108	37443108	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:37443108G>C	ENST00000373451.4	+	19	2120	c.1956G>C	c.(1954-1956)caG>caC	p.Q652H		NM_015050.2	NP_055865.1			cap methyltransferase 1	652																	GGAAGGCCCAGAGGAAGATCA	0.592000													6	24					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541789	133541789	+	Silent	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:133541789A>G	ENST00000409261.1	-	14	2968	c.2595T>C	c.(2593-2595)atT>atC	p.I865I	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.I865I|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	865							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AATGTTTTGGAATGTGTGGAT	0.542000													23	84					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6595073	6595073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:6595073G>A	ENST00000321612.6	-	9	1352	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	401					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGCCCATGGGAACCATGGTA	0.418000													34	123					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67671650	67671650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67671650G>T	ENST00000264010.4	+	12	2503	c.2059G>T	c.(2059-2061)Gaa>Taa	p.E687*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.E359*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	687					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CATTATAGTTGAAGTAAAAAA	0.498000													8	66					1.26484e-09	1.39468e-09	1	1	0
KLF5	688	broad.mit.edu	37	13	73636016	73636016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:73636016G>C	ENST00000377687.4	+	2	815	c.279G>C	c.(277-279)gaG>gaC	p.E93D	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.E2D	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	93					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GTGAAATGGAGAAGTATCTGA	0.408000													21	132					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17626341	17626341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17626341G>A	ENST00000262077.2	-	19	3598	c.3599C>T	c.(3598-3600)tCa>tTa	p.S1200L	NUP153_ENST00000537253.1_Missense_Mutation_p.S1231L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1200					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGGTGTACTTGAACTAGAGGA	0.418000													20	29					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11943309	11943309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11943309C>T	ENST00000304060.5	+	4	1482	c.1318C>T	c.(1318-1320)Caa>Taa	p.Q440*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q440*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAATAACCTTCAAAGTCATGA	0.398000													12	77					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129752028	129752028	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:129752028G>A	ENST00000446488.3	-	10	1247	c.1144C>T	c.(1144-1146)Ctt>Ttt	p.L382F	NFRKB_ENST00000304521.5_Missense_Mutation_p.L382F|NFRKB_ENST00000524746.1_Missense_Mutation_p.L382F|NFRKB_ENST00000524794.1_Missense_Mutation_p.L407F	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	382					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCTAATAGAAGAGAGAAGAAG	0.403000											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	16					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33530781	33530781	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:33530781G>A	ENST00000216951.2	-	4	402	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	GSS_ENST00000541098.1_5'UTR|GSS_ENST00000451957.2_Intron	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	102					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCAAAGAGACGAGCGGTAAAG	0.478000													5	9					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72200447	72200447	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:72200447C>T	ENST00000555818.1	+	19	5337	c.4989C>T	c.(4987-4989)ccC>ccT	p.P1663P	SIPA1L1_ENST00000537413.1_Silent_p.P1117P|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Silent_p.P1642P|SIPA1L1_ENST00000381232.3_Silent_p.P1642P	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1663					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGCCTATGCCCGACCCTGGCC	0.587000													13	23					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2794783	2794783	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:2794783T>C	ENST00000307741.6	+	3	454	c.251T>C	c.(250-252)tTc>tCc	p.F84S		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	84					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTTGACTTCCCCCAGCAT	0.577000													73	141					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092464	159092464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:159092464G>A	ENST00000296530.8	-	2	685	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	FAM198B_ENST00000393807.5_Missense_Mutation_p.R22W|FAM198B_ENST00000592057.1_Missense_Mutation_p.R22W|FAM198B_ENST00000585682.1_Missense_Mutation_p.R22W|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	22						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TTACGCACCCGCGGGACGCAC	0.587000													26	50					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202273726	202273726	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202273726G>C	ENST00000367278.3	+	11	1127	c.1038G>C	c.(1036-1038)ggG>ggC	p.G346G	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Silent_p.G294G|LGR6_ENST00000439764.2_Silent_p.G207G	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	346						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCCCATCGGGGATGTGCCAAC	0.632000													6	40					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44578480	44578480	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44578480C>T	ENST00000322927.2	-	24	3728	c.3628G>A	c.(3628-3630)Gat>Aat	p.D1210N	ZNF335_ENST00000426788.1_Missense_Mutation_p.D1055N	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1210	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GTCTGGCCATCTGCCGTGGTG	0.582000													16	99					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146759	70146759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:70146759G>A	ENST00000335568.5	+	1	543	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E181K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	181					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTACACAATTGAAAGGCACAG	0.418000													47	31					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150709517	150709517	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150709517C>T	ENST00000297494.3	+	24	3420	c.3063C>T	c.(3061-3063)ttC>ttT	p.F1021F	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR|NOS3_ENST00000461406.1_Silent_p.F815F|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1021					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TTGCCCCCTTCCGGGGATTCT	0.617000													7	6					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48947603	48947603	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:48947603C>G	ENST00000267163.4	+	12	1328	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	397	Domain A.|Pocket; binds T and E1A.				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.?(8)|p.S397fs*1(2)		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)	GATCAACCTTCAGAAAATCTG	0.289000		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)			20	172					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49054900	49054900	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49054900T>C	ENST00000440857.1	-	5	966	c.264A>G	c.(262-264)ctA>ctG	p.L88L	DALRD3_ENST00000441576.2_Silent_p.L255L|DALRD3_ENST00000313778.5_Silent_p.L88L|DALRD3_ENST00000341949.4_Silent_p.L255L|DALRD3_ENST00000395462.4_Silent_p.L88L			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	255					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCAATGCCATAGAGCCTCTT	0.527000													16	26					0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121454196	121454196	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:121454196C>T	ENST00000288757.3	-	1	104	c.82G>A	c.(82-84)Gag>Aag	p.E28K	C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.E28K|C12orf43_ENST00000536407.2_Missense_Mutation_p.E28K|C12orf43_ENST00000366211.2_5'UTR	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	28								p.E28Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGCCGCCTCGCGGCACCGC	0.637000													18	38					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974792	21974792	+	Nonsense_Mutation	SNP	G	G	T	rs141798398		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:21974792G>T	ENST00000304494.5	-	1	305	c.35C>A	c.(34-36)tCg>tAg	p.S12*	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.S12*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.S12*|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.S12*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	12					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.S12*(3)|p.S12fs*6(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGTCAGCCGAAGGCTCCAT	0.761000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	20					1.05317e-09	1.16327e-09	1	1	0
TDRD9	122402	broad.mit.edu	37	14	104464977	104464977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104464977G>C	ENST00000409874.4	+	13	1443	c.1395G>C	c.(1393-1395)ttG>ttC	p.L465F	TDRD9_ENST00000339063.5_Missense_Mutation_p.L465F	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	465	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTTTTGTTTGACTAGAACTT	0.338000													44	122					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166864716	166864716	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:166864716G>T	ENST00000510118.1	-	15	1496	c.1156C>A	c.(1156-1158)Cct>Act	p.P386T	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.P272T|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.P369T|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.P272T|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.P361T			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	361	AGC-kinase C-terminal.				axon guidance|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|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGGACGCCAGGAGAGTCTGTA	0.547000													17	40					3.32936e-07	3.55849e-07	1	1	0
GNL2	29889	broad.mit.edu	37	1	38040358	38040358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:38040358C>A	ENST00000373062.3	-	11	1308	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	404					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CTGATATATTCTGGCTTTGCT	0.403000													9	51					1.58986e-06	1.6867e-06	1	1	0
HAS3	3038	broad.mit.edu	37	16	69143910	69143910	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69143910C>G	ENST00000306560.1	+	2	768	c.612C>G	c.(610-612)ctC>ctG	p.L204L	HAS3_ENST00000569188.1_Silent_p.L204L|HAS3_ENST00000219322.3_Silent_p.L204L	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	204					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCAAGGCCCTCGGCGATTCGG	0.602000													16	27					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36123215	36123215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36123215G>C	ENST00000249044.2	+	3	1100	c.1100G>C	c.(1099-1101)cGa>cCa	p.R367P		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	367					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGGCTGTTCGAGGATCCCGT	0.607000													9	52					0	0	1	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40460059	40460059	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:40460059G>C	ENST00000378438.4	+	8	942	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	ATP6AP2_ENST00000535777.1_Missense_Mutation_p.E184Q|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.E186Q|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.E230Q	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	262					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						TGCAGTGGTAGAGTTAGTCAC	0.378000													19	68					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74351884	74351884	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:74351884C>T	ENST00000263665.6	-	13	1770	c.1743G>A	c.(1741-1743)acG>acA	p.T581T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	581	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGTCCACCCCCGTTTGCACCA	0.408000													5	23					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33467109	33467109	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:33467109C>T	ENST00000283629.3	-	2	767	c.238G>A	c.(238-240)Gat>Aat	p.D80N	UBP1_ENST00000283628.5_Missense_Mutation_p.D80N|UBP1_ENST00000447368.2_Missense_Mutation_p.D80N	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	80					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						AGCGTTTCATCATGCAGTTTT	0.403000													17	18					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27908000	27908000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27908000G>T	ENST00000326019.6	+	10	2254	c.1972G>T	c.(1972-1974)Gag>Tag	p.E658*		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	658	Glu-rich.					cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					agaggaagaagagaaagaaaa	0.478000													30	88					9.80776e-20	1.12076e-19	1	1	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238672	71238672	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:71238672C>G	ENST00000398536.4	+	1	360	c.326C>G	c.(325-327)tCa>tGa	p.S109*		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	109	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						ggctgtgggtcatcctgctgc	0.622000													71	198					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136324273	136324273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:136324273C>T	ENST00000371929.3	+	29	4699	c.4255C>T	c.(4255-4257)Cag>Tag	p.Q1419*	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Nonsense_Mutation_p.Q1332*|ADAMTS13_ENST00000371910.1_Nonsense_Mutation_p.Q215*|ADAMTS13_ENST00000355699.2_Nonsense_Mutation_p.Q1363*	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1419	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCAGGACCCTCAGTCCTGGAA	0.587000													7	15					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101540531	101540531	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101540531C>T	ENST00000422132.1	+	5	1610	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	NXPE3_ENST00000273347.5_Silent_p.L471L|NXPE3_ENST00000491511.2_Silent_p.L471L|NXPE3_ENST00000477909.1_Silent_p.L471L					neurexophilin and PC-esterase domain family, member 3																		TTCGGCTCCTCGATCGAAGCC	0.572000													18	110					0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113348980	113348980	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:113348980G>A	ENST00000452357.2	+	3	784	c.594G>A	c.(592-594)ctG>ctA	p.L198L	OAS1_ENST00000202917.5_Silent_p.L198L|OAS1_ENST00000445409.2_Silent_p.L198L|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Silent_p.L198L	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	198					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GAGACTTCCTGAAGCAGCGCC	0.562000													12	64					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655581	46655581	+	Silent	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:46655581A>G	ENST00000253255.5	-	1	3638	c.3639T>C	c.(3637-3639)caT>caC	p.H1213H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1213					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCCCCCGAAGATGCTGGTCCA	0.438000													24	117					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227661897	227661897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:227661897G>A	ENST00000305123.5	-	1	2578	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTTCGGAACCGATTATCCAGA	0.592000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	65					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25297899	25297899	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:25297899G>A	ENST00000400358.4	+	20	2767	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	SGSM1_ENST00000400359.4_Missense_Mutation_p.E959K	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	959	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGCCAACTTGGAGAAGCTGCG	0.622000													9	4					0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62701842	62701842	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:62701842G>C	ENST00000361317.2	+	9	1034	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000343484.5_Splice_Site_p.E225Q|TCEA2_ENST00000465111.1_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	225	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CGTGCTCCAGGAGATGGCCAG	0.642000													18	31					0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387705	119387705	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:119387705G>A	ENST00000326624.2	+	2	663	c.435G>A	c.(433-435)aaG>aaA	p.K145K	ZBTB33_ENST00000557385.1_Silent_p.K145K	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	145					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTGGTGACAAGAACCTTGTAA	0.403000													10	54					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32617216	32617216	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:32617216C>G	ENST00000421745.2	+	5	1083	c.949C>G	c.(949-951)Cag>Gag	p.Q317E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	317					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTTTATCATCAGGTAAAAAA	0.368000													3	12					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58179028	58179028	+	Silent	SNP	T	T	C	rs3732630	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:58179028T>C	ENST00000483681.1	-	9	1424	c.843A>G	c.(841-843)aaA>aaG	p.K281K	DNASE1L3_ENST00000318316.3_Intron|DNASE1L3_ENST00000394549.2_Intron|DNASE1L3_ENST00000486455.1_Intron			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	0					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		ctAACTCATCTTTCCAGGACA	0.428000													3	34					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76869381	76869381	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:76869381C>T	ENST00000409709.3	+	9	1180	c.908C>T	c.(907-909)tCc>tTc	p.S303F	MYO7A_ENST00000409893.1_Missense_Mutation_p.S303F|MYO7A_ENST00000409619.2_Missense_Mutation_p.S292F|MYO7A_ENST00000458637.2_Missense_Mutation_p.S303F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	303	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AACATCCGCTCCGCCATGAAG	0.607000													12	33					0	0	1	0	0
SELV	348303	broad.mit.edu	37	19	40009746	40009746	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:40009746G>A	ENST00000335426.4	+	5	1099	c.999G>A	c.(997-999)caG>caA	p.Q333Q	SELV_ENST00000423711.1_Silent_p.Q333Q	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		333					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAGGCTGCAGAAAATTGTGA	0.597000													10	61					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147919173	147919173	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:147919173G>A	ENST00000370460.2	+	5	1568	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	AFF2_ENST00000370457.5_Intron|AFF2_ENST00000370458.1_Intron|AFF2_ENST00000342251.3_Intron|AFF2_ENST00000286437.5_Intron	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	363					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTCATTAGGAGATGACCCATT	0.413000													6	61					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226780	2226780	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:2226780C>G	ENST00000398665.3	+	27	4296	c.4260C>G	c.(4258-4260)ctC>ctG	p.L1420L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1420						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCGACCTCAAGAATGGCC	0.741000													4	10					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80465456	80465456	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:80465456C>T	ENST00000539156.1	+	8	2835	c.597C>T	c.(595-597)ctC>ctT	p.L199L	FAH_ENST00000407106.1_Silent_p.L269L|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Silent_p.L269L|FAH_ENST00000261755.5_Silent_p.L269L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	269					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGATGCTCTCATGCCCTTTG	0.577000									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	87					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138437408	138437408	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:138437408C>T	ENST00000310018.2	-	11	1273	c.991G>A	c.(991-993)Gat>Aat	p.D331N	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.D331N|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.D331N	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	331					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CGTGTGGCATCTGCCACCGGG	0.587000													7	29					0	0	1	0	0
GSC	145258	broad.mit.edu	37	14	95234906	95234906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:95234906C>T	ENST00000238558.3	-	3	905	c.696G>A	c.(694-696)tgG>tgA	p.W232*		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	232					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		ACGTCTTGTTCCACTTCTCCG	0.597000													24	178					0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262789	159262789	+	RNA	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:159262789G>A	ENST00000522287.1	-	0	554					NR_028496.1																						TCATTCTCATGAATACTCTAG	0.413000													18	84					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35634815	35634815	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35634815C>T	ENST00000353139.5	-	6	1175	c.694G>A	c.(694-696)Gat>Aat	p.D232N	ACACA_ENST00000360679.3_Missense_Mutation_p.D137N|ACACA_ENST00000394406.2_Missense_Mutation_p.D195N|ACACA_ENST00000335166.5_Missense_Mutation_p.D117N	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	195	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTAGCAATATCAAGAATTAAT	0.383000													7	48					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205492313	205492313	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:205492313G>T	ENST00000360066.2	+	2	319	c.18G>T	c.(16-18)atG>atT	p.M6I	CDK18_ENST00000429964.2_Missense_Mutation_p.M6I|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000506784.1_Missense_Mutation_p.M6I	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	4							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGAACAAGATGAAGAACTTTA	0.517000													8	53					0.0477658	0.0481769	1	1	0
EGR4	1961	broad.mit.edu	37	2	73519500	73519500	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73519500G>A	ENST00000436467.2	-	2	933	c.546C>T	c.(544-546)gtC>gtT	p.V182V	EGR4_ENST00000545030.1_Silent_p.V285V			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	181						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCCGGGCTTGACGTCGGGCG	0.721000													4	13					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124265687	124265687	+	Missense_Mutation	SNP	T	T	C	rs11057353	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:124265687T>C	ENST00000409039.3	+	6	524	c.499T>C	c.(499-501)Tct>Cct	p.S167P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	167	Stem (By similarity).		S -> P (in dbSNP:rs11057353).		microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGAGTCACATCTGGAGAAGT	0.428000													7	159					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6230705	6230705	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:6230705C>T	ENST00000252674.7	-	4	459	c.296G>A	c.(295-297)tGc>tAc	p.C99Y		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	99	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GTAGGTGAAGCAGACCTTCCT	0.597000			T	MLL	AL								30	131					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073944	8073944	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:8073944G>C	ENST00000377482.5	-	4	938	c.715C>G	c.(715-717)Cca>Gca	p.P239A	ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	239					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GTCTGAGGTGGAGGAGGATTT	0.468000													6	44					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27284678	27284678	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:27284678G>A	ENST00000496902.4	+	2	925	c.439G>A	c.(439-441)Gag>Aag	p.E147K	EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Silent_p.P128P|EVX1_ENST00000535619.1_5'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GTCCGGCTCCGAGGCGCTGGT	0.672000													19	64					0	0	1	0	0
C19orf52	90580	broad.mit.edu	37	19	11040364	11040364	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11040364G>C	ENST00000270502.6	+	2	859	c.769G>C	c.(769-771)Gag>Cag	p.E257Q		NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	257										prostate(1)	1						GGTGCAGGCGGAGGCCCCGAG	0.637000													4	16					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36933439	36933439	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36933439C>T	ENST00000373103.1	-	14	2395	c.1848G>A	c.(1846-1848)ctG>ctA	p.L616L	CSF3R_ENST00000418048.2_Silent_p.L616L|CSF3R_ENST00000361632.4_Silent_p.L616L|CSF3R_ENST00000331941.5_Silent_p.L616L|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Silent_p.L616L|CSF3R_ENST00000338937.5_Silent_p.L616L|CSF3R_ENST00000440588.2_Silent_p.L616L|CSF3R_ENST00000373106.1_Silent_p.L616L	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	616	Fibronectin type-III 5.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCAAGGTCATCAGGGTGAGGA	0.602000													20	81					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101702091	101702091	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:101702091G>C	ENST00000261637.4	+	18	2298	c.2124G>C	c.(2122-2124)caG>caC	p.Q708H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	708					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATGTGGTACAGACTGCTGTCC	0.383000													14	52					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114765114	114765114	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:114765114C>T	ENST00000334062.7	-	20	2000	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	RASA3_ENST00000389544.4_Missense_Mutation_p.E595K	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	627	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGGATGTTCTCGATGGGAATG	0.622000													5	47					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137704502	137704502	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:137704502G>A	ENST00000371817.3	+	48	4210	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1266	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCCAGGTGCTGATGGCCCACA	0.622000													6	7					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26951382	26951382	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26951382C>T	ENST00000528896.2	-	25	4695	c.4621G>A	c.(4621-4623)Gaa>Aaa	p.E1541K	KIAA0100_ENST00000544884.1_Missense_Mutation_p.E1398K|KIAA0100_ENST00000389003.3_Missense_Mutation_p.E1398K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1541						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCTGTCTCTTCAATTAGCTTC	0.463000													14	59					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47663416	47663416	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:47663416C>T	ENST00000397708.1	-	25	5513	c.5259G>A	c.(5257-5259)ctG>ctA	p.L1753L	MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.L1753L|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1753					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCAGTCTCTCAGCTTGTGGT	0.552000													31	153					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259019	150259019	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150259019C>T	ENST00000290363.5	+	5	1260	c.811C>T	c.(811-813)Ctc>Ttc	p.L271F	C1orf51_ENST00000369094.1_Missense_Mutation_p.L183F|C1orf51_ENST00000369095.1_Missense_Mutation_p.L271F	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	271										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAACCCCCCTCTCAGCTCCCC	0.522000													21	180					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169584	207169584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:207169584C>T	ENST00000374423.3	+	5	718	c.332C>T	c.(331-333)tCa>tTa	p.S111L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	111							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCCGAGGTTTCAGAACCTATT	0.448000													19	28					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43230283	43230283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:43230283C>A	ENST00000263245.5	-	5	661	c.442G>T	c.(442-444)Gag>Tag	p.E148*	ARFGAP3_ENST00000429508.2_Intron|ARFGAP3_ENST00000437119.2_Nonsense_Mutation_p.E104*	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	148					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						AAATCTTCCTCCTTTGGTGGA	0.423000													70	110					6.00099e-30	6.92504e-30	1	1	0
C10orf90	118611	broad.mit.edu	37	10	128193522	128193522	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:128193522G>T	ENST00000284694.7	-	3	367	c.247C>A	c.(247-249)Cac>Aac	p.H83N	C10orf90_ENST00000454341.1_Missense_Mutation_p.H83N|C10orf90_ENST00000392694.1_Missense_Mutation_p.H36N|C10orf90_ENST00000356858.3_Missense_Mutation_p.H36N|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.H180N	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	83										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGCTTGGCGTGATGTGCACGA	0.517000													28	81					5.60225e-13	6.31785e-13	1	1	0
KCNJ9	3765	broad.mit.edu	37	1	160054012	160054012	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:160054012C>T	ENST00000368088.3	+	2	434	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	64					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTTGTTCTTCGTCCTGGCCT	0.657000													7	46					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100432661	100432661	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:100432661C>T	ENST00000240851.4	+	2	472	c.132C>T	c.(130-132)ttC>ttT	p.F44F	TFG_ENST00000476228.1_Silent_p.F44F|TFG_ENST00000418917.2_Silent_p.F44F|TFG_ENST00000490574.1_Silent_p.F44F	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	44					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						AACGAGTTTTCAGAGGAAAAC	0.289000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								32	56					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41341649	41341649	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:41341649G>A	ENST00000422280.1	+	8	984	c.525G>A	c.(523-525)caG>caA	p.Q175Q	NBR1_ENST00000389312.4_Silent_p.Q175Q|NBR1_ENST00000589872.1_Silent_p.Q175Q|NBR1_ENST00000341165.6_Silent_p.Q175Q|NBR1_ENST00000590996.1_Silent_p.Q175Q|NBR1_ENST00000542611.1_Silent_p.Q154Q	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	175					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGCTTGAACAGAAATTACATG	0.393000													19	116					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121259858	121259858	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:121259858C>T	ENST00000297848.3	+	21	2756	c.2486C>T	c.(2485-2487)tCc>tTc	p.S829F	COL14A1_ENST00000309791.4_Missense_Mutation_p.S829F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.S734F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	829	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAGTACCATCCTCGGGGCCC	0.473000													9	86					0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90356673	90356673	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:90356673G>T	ENST00000371939.3	+	8	1017	c.703G>T	c.(703-705)Gac>Tac	p.D235Y		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	235					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GTTTGGATATGACCCAAAAAA	0.274000													17	81					1.15088e-07	1.23933e-07	1	1	0
TMEM106C	79022	broad.mit.edu	37	12	48358114	48358114	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48358114A>T	ENST00000429772.2	+	2	208	c.95A>T	c.(94-96)gAa>gTa	p.E32V	TMEM106C_ENST00000552561.1_Missense_Mutation_p.E32V|TMEM106C_ENST00000549288.1_Missense_Mutation_p.E32V|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000550552.1_Missense_Mutation_p.E32V|TMEM106C_ENST00000256686.6_Missense_Mutation_p.E32V|TMEM106C_ENST00000449758.2_Missense_Mutation_p.E32V	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	32						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		CGAGAGCAGGAAGAAGCCATT	0.562000													8	38					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66627177	66627177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627177C>A	ENST00000309602.4	+	2	1662	c.1419C>A	c.(1417-1419)tgC>tgA	p.C473*	PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	473	Fibronectin type-III.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						ATGACCTCTGCCTGCTGGCCT	0.687000													8	20					1.12685e-05	1.18283e-05	1	1	0
RMDN3	55177	broad.mit.edu	37	15	41044242	41044242	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:41044242C>A	ENST00000260385.6	-	2	1389	c.322G>T	c.(322-324)Gtg>Ttg	p.V108L	RMDN3_ENST00000338376.3_Missense_Mutation_p.V108L|RMDN3_ENST00000558560.1_5'UTR					regulator of microtubule dynamics 3																		AGCTCCTCCACCTCCCGCCGC	0.632000													7	81					3.09899e-07	3.31501e-07	1	1	0
ARHGEF16	27237	broad.mit.edu	37	1	3394482	3394482	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:3394482G>C	ENST00000378378.4	+	11	1922	c.1517G>C	c.(1516-1518)gGa>gCa	p.G506A	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.G218A|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.G210A|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.G218A	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	506	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGAAGCGCGGAGAGCTGTTC	0.592000													25	46					0	0	1	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884109	143884109	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143884109G>A	ENST00000378115.2	-	2	1497	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	ARHGEF35_ENST00000543357.1_Silent_p.I456I	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	456										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						GAGAGCATCTGATGGGCTCTA	0.512000													8	30					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1544331	1544331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:1544331C>G	ENST00000262319.6	+	2	328	c.49C>G	c.(49-51)Cat>Gat	p.H17D		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	17						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGAAGCCATTCATGCCCTCTC	0.622000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	120					0	0	1	0	0
CD46	4179	broad.mit.edu	37	1	207940986	207940986	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:207940986G>C	ENST00000358170.2	+	7	1047	c.891G>C	c.(889-891)ttG>ttC	p.L297F	CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.L297F|CD46_ENST00000360212.2_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000367041.1_Intron|CD46_ENST00000367047.1_Missense_Mutation_p.L234F|CD46_ENST00000367042.1_Intron|CD46_ENST00000361067.1_Missense_Mutation_p.L297F|CD46_ENST00000357714.1_Intron|CD46_ENST00000441839.2_Intron|CD46_ENST00000322918.5_Intron|CD46_ENST00000354848.1_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	297					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						CTCCAGCTTTGAGTCATTCAG	0.368000													21	102					0	0	1	0	0
TMEM69	51249	broad.mit.edu	37	1	46159475	46159475	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46159475G>T	ENST00000372025.4	+	3	1799	c.642G>T	c.(640-642)ctG>ctT	p.L214L	TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	214						integral to membrane		p.L214L(1)		kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					TTAAAGCCCTGAGGATAGTAG	0.368000													20	71					3.51602e-12	3.94443e-12	1	1	0
TUSC5	286753	broad.mit.edu	37	17	1183494	1183494	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:1183494G>C	ENST00000333813.3	+	1	538	c.199G>C	c.(199-201)Gag>Cag	p.E67Q		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	67					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCATCTCCGAGGGGCACCT	0.632000													16	43					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177098691	177098691	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:177098691G>C	ENST00000393643.2	+	29	3915	c.3663G>C	c.(3661-3663)aaG>aaC	p.K1221N	WDR17_ENST00000280190.4_Missense_Mutation_p.K1245N|WDR17_ENST00000507824.2_Missense_Mutation_p.K1220N|WDR17_ENST00000508596.1_Missense_Mutation_p.K1206N	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1245										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTTATTAAAGAGACTAAAAG	0.328000													16	92					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149399	119149399	+	Missense_Mutation	SNP	G	G	A	rs138277394		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:119149399G>A	ENST00000264033.4	+	9	1783	c.1407G>A	c.(1405-1407)atG>atA	p.M469I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	469	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.M469I(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTCTCTTCATGATGAAGGAAT	0.463000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				21	55					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135908057	135908057	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:135908057C>T	ENST00000264158.8	+	18	2085	c.2042C>T	c.(2041-2043)tCa>tTa	p.S681L	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S681L|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S637L|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	681						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTCTGCTCTCAGATATGGAG	0.468000													4	42					0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93595352	93595352	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:93595352C>T	ENST00000329082.7	-	3	787	c.516G>A	c.(514-516)agG>agA	p.R172R	RGMA_ENST00000425933.2_Silent_p.R156R|RGMA_ENST00000556087.1_Silent_p.R156R|RGMA_ENST00000543599.1_Silent_p.R156R|RGMA_ENST00000556658.1_Silent_p.R63R|RGMA_ENST00000538818.1_Silent_p.R63R|RGMA_ENST00000557301.1_Silent_p.R180R|RGMA_ENST00000542321.2_Silent_p.R156R|RGMA_ENST00000557420.1_Intron	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	172					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CGGTGAAAGTCCTGAGGTGTG	0.602000													6	19					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872849	237872849	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:237872849C>T	ENST00000366574.2	+	70	10529	c.10212C>T	c.(10210-10212)atC>atT	p.I3404I	RYR2_ENST00000542537.1_Silent_p.I3388I|RYR2_ENST00000360064.6_Silent_p.I3402I|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3404					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGTGTTTATCTACTGGTCGA	0.453000													5	13					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96792138	96792138	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96792138C>T	ENST00000359933.4	-	15	3178	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	762										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTGATCAGATCGAAGATCAGG	0.383000													37	118					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51169834	51169834	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:51169834C>G	ENST00000293441.1	-	22	5401	c.5383G>C	c.(5383-5385)Gat>Cat	p.D1795H	SHANK1_ENST00000391814.1_Missense_Mutation_p.D1803H|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.D1786H|SHANK1_ENST00000391813.1_Missense_Mutation_p.D1182H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1795					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCAGCCCATCGGTTCCAGCC	0.721000													4	18					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62385241	62385241	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:62385241C>T	ENST00000383710.4	-	30	4251	c.3902G>A	c.(3901-3903)cGa>cAa	p.R1301Q	CADPS_ENST00000357948.3_Missense_Mutation_p.R1222Q|CADPS_ENST00000283269.9_Missense_Mutation_p.R1262Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1301	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.R1301Q(1)|p.R1262Q(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCCTTGCAATCGGAAATCTCT	0.488000													19	67					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	rs67389650		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7577127C>T	ENST00000420246.2	-	8	943	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)		ACACGCACCTCAAAGCTGTTC	0.537000		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)			17	17					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35804846	35804846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35804846G>A	ENST00000394395.2	+	8	753	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	TADA2A_ENST00000225396.6_Missense_Mutation_p.E194K|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Missense_Mutation_p.E194K|TADA2A_ENST00000417170.1_Missense_Mutation_p.E194K	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	194					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TGATTTTGTTGAAGATGACTC	0.403000													38	218					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112187122	112187122	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:112187122G>C	ENST00000455480.2	+	19	3060	c.2883G>C	c.(2881-2883)gaG>gaC	p.E961D	ACAD10_ENST00000313698.4_Missense_Mutation_p.E930D	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	930							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGTTCTCAGAGAGGGCCCTGG	0.617000													11	65					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44119254	44119254	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:44119254G>C	ENST00000242248.5	-	4	659	c.558C>G	c.(556-558)ctC>ctG	p.L186L	POLM_ENST00000335195.6_Silent_p.L186L|POLM_ENST00000395831.3_Silent_p.L186L	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	186					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GAAGGGCCTTGAGCACCGAGG	0.627000								DNA polymerases (catalytic subunits)					14	79					0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22267600	22267600	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:22267600C>G	ENST00000359741.5	+	4	774	c.599C>G	c.(598-600)tCt>tGt	p.S200C	SLC39A14_ENST00000289952.5_Intron|SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000381237.1_Intron	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	200						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		ACGCTGCTGTCTAACGCGCTA	0.582000													16	81					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129053376	129053376	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:129053376G>A	ENST00000394422.3	+	8	691	c.663G>A	c.(661-663)aaG>aaA	p.K221K	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.K169K|UTP14A_ENST00000371042.3_Silent_p.K53K|UTP14A_ENST00000371051.5_Silent_p.K167K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	221					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGTAGGCAAAGATGCGACGAG	0.517000													43	85					0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44244303	44244303	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:44244303C>G	ENST00000601170.1	-	7	1083	c.769G>C	c.(769-771)Gac>Cac	p.D257H	SMG9_ENST00000270066.6_Missense_Mutation_p.D257H			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	257					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						ATAAAGAAGTCGATGCCACTG	0.572000													40	103					0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99704109	99704109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99704109G>A	ENST00000429084.1	+	14	1288	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	AP4M1_ENST00000359593.4_Missense_Mutation_p.G370E|AP4M1_ENST00000421755.1_Missense_Mutation_p.G370E|AP4M1_ENST00000422582.1_Missense_Mutation_p.G242E			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	370	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGGTGCAAGGAGGCTCTCAA	0.632000													4	27					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225652012	225652012	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:225652012C>G	ENST00000409592.3	-	49	5616	c.5503G>C	c.(5503-5505)Gag>Cag	p.E1835Q	DOCK10_ENST00000258390.7_Missense_Mutation_p.E1841Q			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1841	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CGTTGTTTCTCAAAGACAGCA	0.368000													20	110					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7194756	7194756	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:7194756C>A	ENST00000507866.2	+	1	492	c.383C>A	c.(382-384)tCg>tAg	p.S128*		NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	128						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						GGAGTGGCTTCGCGGGCGCAG	0.741000													3	7					6.4e-05	6.67443e-05	1	1	0
TBCK	93627	broad.mit.edu	37	4	107165844	107165844	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:107165844C>T	ENST00000273980.5	-	12	1456	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	TBCK_ENST00000394706.3_Missense_Mutation_p.E298K|TBCK_ENST00000394708.2_Missense_Mutation_p.E337K|TBCK_ENST00000432496.2_Missense_Mutation_p.E337K|TBCK_ENST00000361687.4_Missense_Mutation_p.E274K			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase							intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGCTCTTTCTCCAAGTCACCT	0.353000													21	71					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132424172	132424172	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:132424172C>T	ENST00000304858.2	+	9	1351	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	354					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAGAAGATCAGCAAATTTT	0.358000													24	36					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660799	77660799	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77660799C>A	ENST00000296043.6	+	5	2426	c.1473C>A	c.(1471-1473)ctC>ctA	p.L491L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	491					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACGGTATGCTCTACCCTGCAC	0.562000													16	86					9.16793e-09	9.98096e-09	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5352267	5352267	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5352267C>G	ENST00000399537.4	-	27	8603	c.8255G>C	c.(8254-8256)aGa>aCa	p.R2752T	TNRC18_ENST00000430969.1_Missense_Mutation_p.R2752T			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2752							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GACGCCCTCTCTCTTCTTGGG	0.716000													14	67					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53218719	53218719	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:53218719A>G	ENST00000376352.2	+	17	1745	c.1538A>G	c.(1537-1539)tAc>tGc	p.Y513C	STXBP4_ENST00000434978.2_Missense_Mutation_p.Y491C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	513	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GGAATCAAGTACTTCATCAAG	0.358000													12	70					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200819297	200819297	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200819297G>A	ENST00000358823.2	+	11	3670	c.3400G>A	c.(3400-3402)Gat>Aat	p.D1134N	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.D1118N|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.D1145N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1145						cytoplasm|microtubule	protein binding										TGAAAAATATGATGGAGAAAG	0.373000													26	110					0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37410658	37410658	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37410658C>G	ENST00000535679.1	-	3	312		c.e3-1		SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Splice_Site|SULT6B1_ENST00000260637.3_Splice_Site			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1							cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CTTTCATTCTCTTAAAAATAT	0.408000													19	47					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2686589	2686589	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:2686589G>A	ENST00000258796.7	+	2	431	c.226G>A	c.(226-228)Gag>Aag	p.E76K	TTYH3_ENST00000407643.1_Missense_Mutation_p.E76K	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	76						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCGCAAGAGCGAGGAGCACCT	0.716000													4	10					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27656634	27656634	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27656634C>G	ENST00000233557.3	+	4	1137	c.305C>G	c.(304-306)tCt>tGt	p.S102C	NRBP1_ENST00000379863.3_Missense_Mutation_p.S102C|NRBP1_ENST00000379852.3_Missense_Mutation_p.S102C			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	102	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTACAGTTCTCTGAACGCAAG	0.478000													35	57					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	113674	113674	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:113674C>T	ENST00000262316.6	-	4	515	c.373G>A	c.(373-375)Gac>Aac	p.D125N	RHBDF1_ENST00000454039.2_Missense_Mutation_p.D125N	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	125					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTGGGCAGGTCCAGCTCCCGG	0.647000													15	45					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101451356	101451356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101451356G>A	ENST00000341893.3	+	6	1338	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	CEP97_ENST00000327230.4_Missense_Mutation_p.E196K|CEP97_ENST00000494050.1_Missense_Mutation_p.E196K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	196						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATCCTTAACTGAATTGGAACA	0.398000													8	52					0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477356	28477356	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:28477356G>A	ENST00000373857.3	-	2	811	c.177C>T	c.(175-177)ctC>ctT	p.L59L	PTAFR_ENST00000539896.1_Silent_p.L59L|PTAFR_ENST00000305392.3_Silent_p.L59L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	59					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCCATGGTGAGGTTCACCA	0.498000													5	59					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44567904	44567904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44567904C>T	ENST00000372409.3	+	4	539	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	59	WW.					nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GAGGGAGAATCGTCCCTACTA	0.632000													16	91					0	0	1	0	0
HOXC8	3224	broad.mit.edu	37	12	54403245	54403245	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:54403245C>G	ENST00000040584.4	+	1	414	c.177C>G	c.(175-177)ttC>ttG	p.F59L	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	59						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						TTCAAGACTTCTTCCACCACG	0.652000													30	171					0	0	1	0	0
PAFAH1B2	5049	broad.mit.edu	37	11	117023231	117023231	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:117023231G>C	ENST00000527958.1	+	2	227	c.68G>C	c.(67-69)cGa>cCa	p.R23P	PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000419197.2_Missense_Mutation_p.R23P|PAFAH1B2_ENST00000530272.1_Missense_Mutation_p.R23P|PAFAH1B2_ENST00000529887.2_Missense_Mutation_p.R23P	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	23					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		GGAGATGACCGATGGATGTCT	0.413000			T	IGH@	MLCLS								6	55					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808297	18808297	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:18808297C>T	ENST00000400664.1	+	1	874	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	274						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGCATTTCATACAGAAGG	0.592000													21	133					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77244136	77244136	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:77244136G>A	ENST00000341514.6	+	3	674	c.519G>A	c.(517-519)ctG>ctA	p.L173L	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.L173L	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	173	HMA 2.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAGTCGTGCTGAAGATGAAAG	0.433000													52	253					0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38370103	38370103	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:38370103G>C	ENST00000358138.1	-	3	498	c.474C>G	c.(472-474)ctC>ctG	p.L158L	C8orf86_ENST00000437935.2_Intron	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	158										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						agacaggaaagagtttgatag	0.517000													9	49					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242176173	242176173	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242176173C>G	ENST00000391975.1	-	21	2988	c.2761G>C	c.(2761-2763)Gag>Cag	p.E921Q	HDLBP_ENST00000391976.2_Missense_Mutation_p.E921Q|HDLBP_ENST00000310931.4_Missense_Mutation_p.E921Q|HDLBP_ENST00000427183.2_Missense_Mutation_p.E888Q	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	921	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ACAACTGGCTCTGTACTGTGA	0.537000													26	51					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55502018	55502018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55502018G>A	ENST00000543010.1	+	10	2829	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K	NLRP2_ENST00000391721.4_Missense_Mutation_p.E872K|NLRP2_ENST00000339757.7_Missense_Mutation_p.E874K|NLRP2_ENST00000586512.1_3'UTR|NLRP2_ENST00000537859.1_Missense_Mutation_p.E874K|NLRP2_ENST00000263437.6_Missense_Mutation_p.E893K|NLRP2_ENST00000427260.2_Missense_Mutation_p.E873K|NLRP2_ENST00000538819.1_Missense_Mutation_p.E872K|NLRP2_ENST00000448584.2_Missense_Mutation_p.E896K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	896					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGGTACCCCGAGTGTAAACT	0.567000													14	64					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47163397	47163397	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:47163397G>A	ENST00000295454.3	+	4	664	c.372G>A	c.(370-372)ctG>ctA	p.L124L	GABRB1_ENST00000538619.1_Silent_p.L54L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	124					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTACTTTCTGAATGACAAGA	0.443000													31	116					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28264604	28264604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:28264604G>C	ENST00000405948.2	+	5	1074	c.654G>C	c.(652-654)aaG>aaC	p.K218N	PGBD1_ENST00000259883.3_Missense_Mutation_p.K218N	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	218					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.K218K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CATTGGTGAAGACTGAGGAAG	0.463000													13	79					0	0	1	0	0
CCDC14	64770	broad.mit.edu	37	3	123634090	123634090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:123634090G>A	ENST00000485727.1	-	9	6390	c.1798C>T	c.(1798-1800)Cag>Tag	p.Q600*	CCDC14_ENST00000489746.1_Nonsense_Mutation_p.Q600*|CCDC14_ENST00000488653.2_Nonsense_Mutation_p.Q800*|CCDC14_ENST00000433542.2_Nonsense_Mutation_p.Q759*|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000310351.4_Nonsense_Mutation_p.Q640*			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	800						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ATTTGTGGCTGAGGGGATAGT	0.388000													17	74					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48597027	48597027	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48597027G>T	ENST00000310248.2	-	1	143	c.49C>A	c.(49-51)Cag>Aag	p.Q17K		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GAGCTCTGCTGAAAGCCCACG	0.507000													6	52					0.248553	0.248939	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2797857	2797857	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:2797857G>T	ENST00000399655.1	+	46	6294	c.6029G>T	c.(6028-6030)aGa>aTa	p.R2010I	CACNA1C_ENST00000399621.1_Missense_Mutation_p.R2029I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R2010I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R2081I|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R2016I|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R2018I|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R2081I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R2010I|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R2030I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R2035I|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R2038I|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R2010I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R2029I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R2027I|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R2010I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R2010I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R2045I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R2029I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R2051I|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R2045I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R2018I|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R2058I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2093					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCGCCCGGAGAGTCCGGCCC	0.692000													6	33					0.00116845	0.00119534	1	1	0
USP9X	8239	broad.mit.edu	37	X	41010204	41010204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:41010204G>C	ENST00000324545.8	+	13	2290	c.1657G>C	c.(1657-1659)Gat>Cat	p.D553H	USP9X_ENST00000378308.2_Missense_Mutation_p.D553H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCAATGGATAGATCGCTTTAT	0.318000													5	20					0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38713255	38713255	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:38713255G>A	ENST00000416611.1	-	2	249	c.126C>T	c.(124-126)ctC>ctT	p.L42L	DPF1_ENST00000355526.4_Silent_p.L68L|DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000456296.1_Silent_p.L42L|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000420980.2_Silent_p.L68L			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	68					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTGCGAGTCGAGGAAGGGCA	0.697000													4	9					0	0	1	0	0
FAM102A	399665	broad.mit.edu	37	9	130705511	130705511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:130705511G>C	ENST00000373095.1	-	11	1490	c.1115C>G	c.(1114-1116)tCt>tGt	p.S372C	FAM102A_ENST00000373084.4_Missense_Mutation_p.S230C|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	372										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GACCCCAGAAGAGACCCTGCA	0.562000											OREG0019513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	64					0	0	1	0	0
EIF3J	8669	broad.mit.edu	37	15	44849735	44849735	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:44849735G>C	ENST00000261868.5	+	6	596	c.458G>C	c.(457-459)aGa>aCa	p.R153T	EIF3J_ENST00000535391.1_Intron|EIF3J_ENST00000424492.3_Missense_Mutation_p.R104T	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3, subunit J	153						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CCATCTTCAAGAGATGACTTT	0.318000													14	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605533	179605533	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179605533G>T	ENST00000589042.1	-	48	12651	c.12427C>A	c.(12427-12429)Ctc>Atc	p.L4143I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L3972I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3780I|TTN_ENST00000359218.5_Missense_Mutation_p.L3905I|TTN_ENST00000591111.1_Missense_Mutation_p.L3826I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3826							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)			GGTTCCTTGAGAGGCTGAAAG	0.473000													30	119					1.55811e-20	1.78366e-20	1	1	0
MEN1	4221	broad.mit.edu	37	11	64573830	64573830	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:64573830G>A	ENST00000337652.1	-	7	1441	c.938C>T	c.(937-939)tCa>tTa	p.S313L	MEN1_ENST00000394374.2_Missense_Mutation_p.S313L|MEN1_ENST00000377326.3_Missense_Mutation_p.S308L|MEN1_ENST00000315422.4_Missense_Mutation_p.S308L|MEN1_ENST00000377321.1_Missense_Mutation_p.S273L|MEN1_ENST00000312049.6_Missense_Mutation_p.S308L|MEN1_ENST00000394376.1_Missense_Mutation_p.S313L|MEN1_ENST00000443283.1_Missense_Mutation_p.S313L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.S313L|MEN1_ENST00000377316.2_Missense_Mutation_p.S308L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	313	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGTCTTGGCTGAGGCAATGCC	0.622000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	42	78					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538569	27538569	+	RNA	SNP	G	G	A	rs11015624	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:27538569G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CAGGTCCAAAGGTTGAACTGT	0.478000													10	262					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111156284	111156284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:111156284G>A	ENST00000360467.5	+	44	4535	c.4229G>A	c.(4228-4230)cGa>cAa	p.R1410Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1410	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGGAGGCGAGGCCCCCCT	0.731000													11	31					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137622209	137622209	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137622209G>A	ENST00000323760.6	-	12	1415	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	CDC25C_ENST00000513970.1_Silent_p.F379F|CDC25C_ENST00000357274.3_Silent_p.F336F|CDC25C_ENST00000348983.3_Silent_p.F306F|CDC25C_ENST00000356505.3_Silent_p.F349F|CDC25C_ENST00000514555.1_Silent_p.F349F|CDC25C_ENST00000415130.2_Silent_p.F306F	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	379	HIV-1 Vpr binding site.|Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCTGAGGAGAATTCACAGT	0.468000													16	48					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101540511	101540511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101540511C>T	ENST00000422132.1	+	5	1590	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	NXPE3_ENST00000273347.5_Nonsense_Mutation_p.R465*|NXPE3_ENST00000491511.2_Nonsense_Mutation_p.R465*|NXPE3_ENST00000477909.1_Nonsense_Mutation_p.R465*					neurexophilin and PC-esterase domain family, member 3																		GAACATCCGTCGAGCAGTGGT	0.572000													18	92					0	0	1	0	0
RBBP9	10741	broad.mit.edu	37	20	18477724	18477724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:18477724C>T	ENST00000337227.4	-	1	163	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	30						cytoplasm|nucleus	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						TTCTCCAGCTCCTTTTTCACC	0.612000													4	32					0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39384788	39384788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:39384788C>T	ENST00000289248.2	-	2	1105	c.97G>A	c.(97-99)Gat>Aat	p.D33N	RHBDL2_ENST00000372990.1_Missense_Mutation_p.D33N|RHBDL2_ENST00000540558.1_Missense_Mutation_p.D33N|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.D113N|RHBDL2_ENST00000538156.1_Missense_Mutation_p.D100N			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	33					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CCTCCCCCATCCTCTCTCATT	0.483000													26	109					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183860508	183860508	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:183860508G>C	ENST00000361354.4	-	7	1034	c.662C>G	c.(661-663)gCt>gGt	p.A221G	NCKAP1_ENST00000360982.2_Missense_Mutation_p.A227G	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCACTGGTCAGCTGAAAGATT	0.368000													12	69					0	0	1	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008828	142008828	+	RNA	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:142008828G>C	ENST00000390387.3	+	0	348																											CAATTCCCTGGAGCTTGGTGA	0.463000													19	81					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107638920	107638920	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:107638920G>T	ENST00000393561.1	-	2	487	c.303C>A	c.(301-303)ttC>ttA	p.F101L	LAMB1_ENST00000393560.1_Missense_Mutation_p.F77L|LAMB1_ENST00000222399.6_Missense_Mutation_p.F77L			P07942	LAMB1_HUMAN	laminin, beta 1	77	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATTGCATATGAAGCATTTTT	0.363000													10	70					0.000673444	0.000691689	1	1	0
NETO1	81832	broad.mit.edu	37	18	70451007	70451007	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:70451007G>A	ENST00000327305.6	-	7	1431	c.774C>T	c.(772-774)gtC>gtT	p.V258V	NETO1_ENST00000583169.1_Silent_p.V258V|NETO1_ENST00000299430.2_Silent_p.V257V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	258	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGCGTAGCATGACATCATTAG	0.473000													154	56					0	0	1	0	0
EAF1	85403	broad.mit.edu	37	3	15477906	15477906	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:15477906C>G	ENST00000396842.2	+	5	1009	c.584C>G	c.(583-585)tCt>tGt	p.S195C	EAF1_ENST00000432764.2_Missense_Mutation_p.S94C|EAF1-AS1_ENST00000597949.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	195	Necessary for transactivation activity.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GGGAGCAGCTCTTCAGACTCT	0.532000													35	22					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130799266	130799266	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:130799266G>C	ENST00000383366.4	+	4	463		c.e4-1		NEK11_ENST00000510769.1_Splice_Site|NEK11_ENST00000429253.2_Splice_Site|NEK11_ENST00000507910.1_Splice_Site|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510688.1_Splice_Site|NEK11_ENST00000511262.1_Splice_Site|NEK11_ENST00000356918.4_Splice_Site|NEK11_ENST00000508196.1_Splice_Site	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11						cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TTTGATCTCAGAAAGGTACTT	0.378000													3	18					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440523	99440523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:99440523G>A	ENST00000287042.4	+	2	666	c.316G>A	c.(316-318)Gag>Aag	p.E106K	KCNS2_ENST00000521839.1_Missense_Mutation_p.E106K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	106						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCAGGAGATCGAGTACTGGGG	0.557000													48	221					0	0	1	0	0
TLCD1	116238	broad.mit.edu	37	17	27051561	27051561	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27051561C>A	ENST00000292090.3	-	4	821	c.711G>T	c.(709-711)aaG>aaT	p.K237N	TLCD1_ENST00000394933.3_Missense_Mutation_p.K190N	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	237						integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					TGTGTTGCTTCTTGGGGACAT	0.522000													30	202					3.90053e-15	4.42586e-15	1	1	0
MC3R	4159	broad.mit.edu	37	20	54824451	54824451	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:54824451G>C	ENST00000243911.2	+	1	664	c.552G>C	c.(550-552)gaG>gaC	p.E184D		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	221					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTACTCGGAGAGCAAAATGG	0.572000													11	91					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389979	150389979	+	Missense_Mutation	SNP	T	T	C	rs138926685		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150389979T>C	ENST00000223293.5	+	3	699	c.605T>C	c.(604-606)aTt>aCt	p.I202T		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	202						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGGACTGTATTGAGGATCTG	0.458000													59	88					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33662118	33662118	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:33662118C>T	ENST00000504830.1	-	6	1278	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E315K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	315	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTGTCTTTTCTGCATGGTGA	0.473000										HNSCC(64;0.19)			23	75					0	0	1	0	0
SEC1P	653677	broad.mit.edu	37	19	49183853	49183853	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49183853C>T	ENST00000430145.2	+	0	940					NR_004401.2																						AGGCGACCTTCGTGGGGGTCC	0.697000													9	23					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101627417	101627417	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:101627417C>T	ENST00000409318.1	-	19	3119	c.2989G>A	c.(2989-2991)Gag>Aag	p.E997K	RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.E982K|RPL31_ENST00000409028.4_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	982					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AATTCTTTCTCAGTTTTATCT	0.368000													12	76					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38040350	38040350	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:38040350G>T	ENST00000373062.3	-	11	1316	c.1218C>A	c.(1216-1218)atC>atA	p.I406I		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	406					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				ATGTTTTGCTGATATATTCTG	0.413000													9	46					0.000673444	0.000691689	1	1	0
STARD10	10809	broad.mit.edu	37	11	72466776	72466776	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:72466776C>T	ENST00000334805.6	-	6	1519	c.600G>A	c.(598-600)gtG>gtA	p.V200V	STARD10_ENST00000545082.1_Silent_p.V171V|STARD10_ENST00000538536.1_Silent_p.V154V|STARD10_ENST00000543304.1_Silent_p.V200V|STARD10_ENST00000538437.1_5'UTR|ARAP1_ENST00000359373.5_Intron	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	200	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AAGATTTATTCACCACCCACT	0.592000													13	35					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228491539	228491539	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:228491539G>T	ENST00000570156.2	+	52	13976	c.13902G>T	c.(13900-13902)acG>acT	p.T4634T	OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Silent_p.T1324T|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3677	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGACGGGACGAGGTGTGAGC	0.607000													11	95					4.68919e-08	5.06228e-08	1	1	0
CEP192	55125	broad.mit.edu	37	18	13092445	13092445	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:13092445C>T	ENST00000506447.1	+	34	6253	c.6173C>T	c.(6172-6174)tCa>tTa	p.S2058L	CEP192_ENST00000430049.2_Missense_Mutation_p.S1583L|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.S1462L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1653								p.S2058L(1)|p.S1462L(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTATACTTTCAGTAATTGGA	0.333000													16	85					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121711915	121711915	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:121711915G>C	ENST00000324774.5	-	2	1243	c.415C>G	c.(415-417)Cgg>Ggg	p.R139G	CAMKK2_ENST00000337174.3_Missense_Mutation_p.R139G|CAMKK2_ENST00000404169.3_Missense_Mutation_p.R139G|CAMKK2_ENST00000347034.2_Missense_Mutation_p.R139G|CAMKK2_ENST00000402834.4_Missense_Mutation_p.R139G|CAMKK2_ENST00000392474.2_Missense_Mutation_p.R139G|CAMKK2_ENST00000538733.1_Missense_Mutation_p.R139G|CAMKK2_ENST00000392473.2_Missense_Mutation_p.R139G|CAMKK2_ENST00000446440.2_Missense_Mutation_p.R139G|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000412367.2_Missense_Mutation_p.R139G	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	139					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGGGGCAGCCGAGGCGAGGAC	0.697000													3	6					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941062	52941062	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52941062C>T	ENST00000371544.3	-	13	2431	c.2169G>A	c.(2167-2169)aaG>aaA	p.K723K	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.K723K	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	723					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TCTCTCTTTTCTTGAAATCCA	0.403000													39	110					0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102944862	102944862	+	Missense_Mutation	SNP	A	A	G	rs149104855	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:102944862A>G	ENST00000249269.4	+	6	699	c.661A>G	c.(661-663)Ata>Gta	p.I221V	PMPCB_ENST00000420236.2_Missense_Mutation_p.I116V|PMPCB_ENST00000428154.1_Missense_Mutation_p.I221V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	221					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTACAGATCTATAAGTCGTAA	0.318000													18	49					0	0	1	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53191669	53191669	+	Translation_Start_Site	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:53191669C>A	ENST00000342657.3	+	0	65				HNRNPA1L2_ENST00000398039.1_De_novo_Start_InFrame	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2						mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						CAGTTGCTCTCCTGGATGGCT	0.597000													4	5					2.56e-06	2.70923e-06	1	1	0
HSF4	3299	broad.mit.edu	37	16	67201421	67201421	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67201421G>A	ENST00000264009.8	+	10	1738	c.773G>A	c.(772-774)aGg>aAg	p.R258K	HSF4_ENST00000421453.1_Missense_Mutation_p.G263R|HSF4_ENST00000584272.1_Missense_Mutation_p.G263R|HSF4_ENST00000521374.1_Missense_Mutation_p.R258K	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	258	Interactions with DUSP26, MAPK1 and MAPK2.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CACAGGGCCAGGGGCCCCATC	0.607000													38	98					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963713	39963713	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:39963713C>A	ENST00000599117.1	+	24	2584	c.2217C>A	c.(2215-2217)acC>acA	p.T739T	SUPT5H_ENST00000359191.6_Silent_p.T735T|SUPT5H_ENST00000432763.2_Silent_p.T739T|SUPT5H_ENST00000402194.2_Silent_p.T735T|SUPT5H_ENST00000598725.1_Silent_p.T739T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	739					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCACTCCACCTGCCAGACCA	0.667000													10	57					0.000673444	0.000691689	1	1	0
FHDC1	85462	broad.mit.edu	37	4	153896615	153896615	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:153896615G>A	ENST00000511601.1	+	12	2360	c.2172G>A	c.(2170-2172)ctG>ctA	p.L724L	FHDC1_ENST00000260008.3_Silent_p.L724L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	724					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCAGCAGCCTGACACCCATGG	0.637000													18	17					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346657	140346657	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:140346657C>T	ENST00000289269.5	+	1	838	c.306C>T	c.(304-306)aaC>aaT	p.N102N	PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		102	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCGTCAACGAGCGCATTG	0.672000													3	29					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081808	53081808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:53081808C>A	ENST00000305901.5	-	1	401	c.274G>T	c.(274-276)Gag>Tag	p.E92*	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	92					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GGGGGAGTCTCGCAGGCCATG	0.677000													9	12					3.09899e-07	3.31501e-07	1	1	0
ATP2B1	490	broad.mit.edu	37	12	89996871	89996871	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:89996871G>A	ENST00000428670.3	-	18	3465	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	ATP2B1_ENST00000393164.2_Silent_p.I746I|ATP2B1_ENST00000359142.3_Silent_p.I1003I|ATP2B1_ENST00000348959.3_Silent_p.I1003I|ATP2B1_ENST00000261173.2_Silent_p.I1003I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1003					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CATTGTTAAAGATTCCTTCGA	0.343000													17	45					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023784	31023784	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:31023784G>C	ENST00000375687.4	+	13	3693	c.3269G>C	c.(3268-3270)aGa>aCa	p.R1090T	ASXL1_ENST00000306058.5_Missense_Mutation_p.R1085T	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1090					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TACCAGCCAAGAGCCGTGTGC	0.572000			"""F, N, Mis"""		"""MDS, CMML"""								20	73					0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37402322	37402322	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37402322G>C	ENST00000535679.1	-	5	576	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Missense_Mutation_p.L155V|SULT6B1_ENST00000260637.3_Missense_Mutation_p.L155V			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	193						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TCGCCATCAAGATGTTTGTTC	0.313000													8	48					0	0	1	0	0
MEST	4232	broad.mit.edu	37	7	130138063	130138063	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:130138063C>A	ENST00000223215.4	+	5	644	c.423C>A	c.(421-423)atC>atA	p.I141I	MEST_ENST00000341441.5_Silent_p.I132I|MEST_ENST00000378576.4_Silent_p.I132I|MEST_ENST00000416162.2_Silent_p.I132I|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000393187.1_Silent_p.I132I|MEST_ENST00000437945.1_Silent_p.I141I|hsa-mir-335_ENST00000604666.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	141					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					ACCGCAGGATCAACCTTCTTT	0.483000													19	73					5.03518e-11	5.59996e-11	1	1	0
CDH19	28513	broad.mit.edu	37	18	64235752	64235752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:64235752C>G	ENST00000262150.2	-	3	683	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	CDH19_ENST00000540086.1_Missense_Mutation_p.E131Q	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	131	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AACTCAGACTCAGGTTCCACA	0.438000													26	104					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17855761	17855761	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17855761G>C	ENST00000378814.5	-	6	400	c.401C>G	c.(400-402)tCt>tGt	p.S134C	KIF13A_ENST00000378826.2_Missense_Mutation_p.S134C|KIF13A_ENST00000259711.6_Missense_Mutation_p.S134C|KIF13A_ENST00000378816.5_Missense_Mutation_p.S134C|KIF13A_ENST00000378843.2_Missense_Mutation_p.S134C	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	134	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGCTCCAAAGAGATCCTTTT	0.423000													14	43					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70843817	70843817	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70843817C>T	ENST00000393567.2	-	85	14902	c.14752G>A	c.(14752-14754)Gag>Aag	p.E4918K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4918										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGATAGAGCTCATATTGGTAG	0.468000													131	352					0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105398391	105398391	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:105398391C>A	ENST00000540372.1	+	9	1314	c.1122C>A	c.(1120-1122)ttC>ttA	p.F374L	PLD4_ENST00000392593.4_Missense_Mutation_p.F367L			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	367					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CGGCAGCCTTCGGCAAGGGCG	0.711000													3	32					1	1	1	1	0
CYP4B1	1580	broad.mit.edu	37	1	47284418	47284418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:47284418C>T	ENST00000271153.4	+	12	1504	c.1468C>T	c.(1468-1470)Ctt>Ttt	p.L490F	CYP4B1_ENST00000371919.4_Missense_Mutation_p.L476F|CYP4B1_ENST00000371923.4_Missense_Mutation_p.L491F|CYP4B1_ENST00000452782.2_Missense_Mutation_p.L328F			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	490					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GATGCCCCAGCTTGTCCTGCG	0.577000													27	96					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240958025	240958025	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:240958025G>A	ENST00000252711.2	-	4	592	c.492C>T	c.(490-492)ttC>ttT	p.F164F	NDUFA10_ENST00000404554.1_Silent_p.F164F|NDUFA10_ENST00000307300.4_Silent_p.F164F|NDUFA10_ENST00000407129.3_Silent_p.F164F	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	164					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CAAAGTCACTGAAGATGGAGC	0.473000													5	39					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618457	134618457	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:134618457G>A	ENST00000361675.2	+	5	1166	c.937G>A	c.(937-939)Gag>Aag	p.E313K	CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000495522.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	313					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						agaggcagaagagagggaaag	0.473000													4	2					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120054248	120054248	+	Missense_Mutation	SNP	G	G	A	rs6684974	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:120054248G>A	ENST00000235547.6	+	3	413	c.274G>A	c.(274-276)Ggt>Agt	p.G92S	HSD3B1_ENST00000528909.1_Missense_Mutation_p.G90S|HSD3B1_ENST00000369413.3_Missense_Mutation_p.G90S	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	90					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGATGTCTTCGGTGTCACTCA	0.502000													20	95					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70843871	70843871	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70843871C>T	ENST00000393567.2	-	85	14848	c.14698G>A	c.(14698-14700)Gaa>Aaa	p.E4900K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4900										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCGAAGGTTTCTCCAGCTTTC	0.473000													118	287					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36684830	36684830	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36684830C>A	ENST00000216181.5	-	33	4943	c.4713G>T	c.(4711-4713)cgG>cgT	p.R1571R		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1571					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						CCTGCAGGTCCCGCTCGAACT	0.642000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				22	139					2.27731e-05	2.38654e-05	1	1	0
JAG1	182	broad.mit.edu	37	20	10653409	10653409	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:10653409G>A	ENST00000254958.5	-	2	842	c.327C>T	c.(325-327)ctC>ctT	p.L109L		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	109					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCTGGCCTTGAGGTTGAAGG	0.662000									Alagille Syndrome				11	20					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79781696	79781696	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:79781696C>G	ENST00000372371.3	-	7	1107	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	324					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCGAGAGCTCACTGTTAATG	0.542000													5	47					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400425	85400425	+	Missense_Mutation	SNP	G	G	A	rs116079740	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:85400425G>A	ENST00000258888.5	+	6	3229	c.3062G>A	c.(3061-3063)cGa>cAa	p.R1021Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1021					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGAGATGCCGAGGGCCACAG	0.647000													5	46					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684883	100684883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100684883G>T	ENST00000306151.4	+	3	10250	c.10186G>T	c.(10186-10188)Gaa>Taa	p.E3396*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3396	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGTCCTAGTGAAGGAACCAC	0.498000													98	436					2.63401e-43	3.05328e-43	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80764458	80764458	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:80764458G>A	ENST00000458043.2	+	55	6703	c.6697G>A	c.(6697-6699)Gaa>Aaa	p.E2233K	OTOGL_ENST00000546620.1_Missense_Mutation_p.E252K|OTOGL_ENST00000547103.1_Missense_Mutation_p.E2221K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAATGAGACTGAATGCAAAAT	0.308000													13	88					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77057793	77057793	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:77057793G>A	ENST00000538941.2	-	13	1699	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	SCAPER_ENST00000324767.7_Missense_Mutation_p.R500C|SCAPER_ENST00000563290.1_Missense_Mutation_p.R500C	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	499						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CAAGACTCACGAGCTGTTCAG	0.393000													16	34					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58592477	58592477	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58592477G>C	ENST00000317147.5	-	18	2564	c.2232C>G	c.(2230-2232)ttC>ttG	p.F744L	CNOT1_ENST00000569240.1_Missense_Mutation_p.F744L|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.F744L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	744					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAGGGGTACTGAATGCAGAAC	0.493000													10	54					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068601	103068601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:103068601C>G	ENST00000264260.2	+	12	2349	c.1760C>G	c.(1759-1761)aCa>aGa	p.T587R	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T445R	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	587					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTCAGTAGAACAGAAACCACT	0.507000													28	108					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33501356	33501356	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:33501356C>G	ENST00000268876.5	+	14	2029	c.1932C>G	c.(1930-1932)atC>atG	p.I644M	UNC45B_ENST00000378449.1_Missense_Mutation_p.I563M|UNC45B_ENST00000394570.2_Missense_Mutation_p.I642M|UNC45B_ENST00000433649.1_Missense_Mutation_p.I642M|UNC45B_ENST00000591048.1_Missense_Mutation_p.I563M	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	644					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATAGTGCCATCCTCACTGACC	0.597000													12	82					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118369132	118369132	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118369132C>T	ENST00000534358.1	+	22	5873	c.5850C>T	c.(5848-5850)ctC>ctT	p.L1950L	KMT2A_ENST00000354520.4_Silent_p.L1909L|KMT2A_ENST00000389506.5_Silent_p.L1947L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTTGCTGTCTCACATCCTGCA	0.423000													105	191					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132261	59132261	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:59132261G>C	ENST00000313940.2	+	1	377	c.330G>C	c.(328-330)ctG>ctC	p.L110L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CGATGGGACTGAGTGAGTCTT	0.443000													19	194					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69521860	69521860	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:69521860G>A	ENST00000374403.3	+	6	709	c.627G>A	c.(625-627)tcG>tcA	p.S209S	KIF4A_ENST00000374388.3_Silent_p.S209S	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	209	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACTCCCAGTCGTCCCGATCTC	0.413000													6	96					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72174473	72174473	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:72174473C>T	ENST00000537465.1	-	6	803	c.645G>A	c.(643-645)gaG>gaA	p.E215E	PMFBP1_ENST00000355636.6_Silent_p.E70E|PMFBP1_ENST00000237353.10_Silent_p.E215E			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	215										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CACCCTTGTTCTCAGGCTCCT	0.388000													28	141					0	0	1	0	0
TMEM53	79639	broad.mit.edu	37	1	45140082	45140082	+	Translation_Start_Site	SNP	G	G	T	rs114472931	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:45140082G>T	ENST00000372237.3	-	0	145				TMEM53_ENST00000372243.3_De_novo_Start_OutOfFrame|TMEM53_ENST00000372242.3_De_novo_Start_OutOfFrame|TMEM53_ENST00000372244.3_De_novo_Start_OutOfFrame|TMEM53_ENST00000372235.3_De_novo_Start_OutOfFrame|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53							integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CGCCGGCCCAGAGCACGGGTC	0.682000													4	20					0.00909568	0.00920277	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107040564	107040564	+	Missense_Mutation	SNP	C	C	T	rs55993306	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:107040564C>T	ENST00000409886.3	-	20	3946	c.3859G>A	c.(3859-3861)Gag>Aag	p.E1287K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1287K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1287					intracellular transport		binding	p.E1287K(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTTGTTGACTCATCAAAGTGG	0.408000													10	162					0	0	1	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39477087	39477087	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39477087C>T	ENST00000407997.3	+	3	678	c.321C>T	c.(319-321)ttC>ttT	p.F107F	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Silent_p.F107F	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TGGCCACGTTCCTGGCCGAGG	0.562000													13	87					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78270590	78270590	+	Missense_Mutation	SNP	G	G	C	rs34384168		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:78270590G>C	ENST00000281038.5	-	5	964	c.589C>G	c.(589-591)Ctt>Gtt	p.L197V	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	197					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CTTACTTCAAGTTGAAAAAGT	0.353000													26	142					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101442134	101442134	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:101442134G>A	ENST00000392979.3	+	13	1523	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000550015.1_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.D423N	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	423						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCACCTTTTTGACAATGGAGC	0.343000										HNSCC(74;0.22)			15	65					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8583003	8583003	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:8583003G>A	ENST00000382487.4	+	1	711	c.294G>A	c.(292-294)gcG>gcA	p.A98A	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	98					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGAGCGTGGCGGCGCTGAGCG	0.716000													7	8					0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10582001	10582001	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:10582001T>C	ENST00000234111.4	-	10	1478	c.968A>G	c.(967-969)tAt>tGt	p.Y323C	ODC1_ENST00000405333.1_Missense_Mutation_p.Y323C	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	323					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AAATGATCCATAGACGCCATC	0.383000													35	168					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26508758	26508758	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:26508758C>T	ENST00000244513.6	+	7	1003	c.937C>T	c.(937-939)Cat>Tat	p.H313Y		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	313	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGACACAGCTCATCCCCACCT	0.463000													98	191					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17373647	17373647	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:17373647C>A	ENST00000242057.4	+	7	1460	c.817C>A	c.(817-819)Cag>Aag	p.Q273K		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	273					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TACTCCACTTCAGCCACCATC	0.403000													20	94					3.76869e-24	4.33349e-24	1	1	0
KATNB1	10300	broad.mit.edu	37	16	57787356	57787356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:57787356G>A	ENST00000379661.3	+	12	1494	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	368	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GGATGACCGGGACGAGCGCGA	0.667000													21	42					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233398643	233398643	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233398643C>G	ENST00000258385.3	+	10	1082	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	CHRND_ENST00000457943.2_Silent_p.L156L|CHRND_ENST00000543200.1_Silent_p.L335L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	350					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GGCCCCAGCTCTTCCTGGAGA	0.602000													17	66					0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454730	114454730	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:114454730C>T	ENST00000369563.3	+	4	1962	c.1516C>T	c.(1516-1518)Ctg>Ttg	p.L506L	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	506					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAATATCTTCTGACTCCAGT	0.498000								Other identified genes with known or suspected DNA repair function					26	129					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29604325	29604325	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:29604325G>C	ENST00000318184.5	-	22	2707	c.2708C>G	c.(2707-2709)tCa>tGa	p.S903*	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	903	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AATTAGAACTGAGTCTTGACA	0.438000													6	36					0	0	1	0	0
TBCA	6902	broad.mit.edu	37	5	76989151	76989151	+	Nonstop_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:76989151C>A	ENST00000520039.1	-	2	96	c.80G>T	c.(79-81)tGa>tTa	p.*27L	TBCA_ENST00000306388.6_Missense_Mutation_p.M62I|TBCA_ENST00000380377.4_Missense_Mutation_p.M62I|TBCA_ENST00000518338.2_Missense_Mutation_p.M85I|TBCA_ENST00000522370.1_Missense_Mutation_p.M38I|TBCA_ENST00000517679.1_Missense_Mutation_p.M73I|TBCA_ENST00000520361.1_Intron|TBCA_ENST00000517881.1_5'UTR			O75347	TBCA_HUMAN	tubulin folding cofactor A	0					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		CTGGGATCATCATCCTGGATT	0.403000													9	26					1.58986e-06	1.6867e-06	1	1	0
FAM83H	286077	broad.mit.edu	37	8	144810168	144810168	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144810168T>C	ENST00000388913.3	-	5	1588	c.1463A>G	c.(1462-1464)gAc>gGc	p.D488G		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	488					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGGTGAAGTCATCCGGGTC	0.746000													4	7					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418777	23418777	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:23418777C>T	ENST00000302291.4	-	4	2779	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N	LUZP1_ENST00000418342.1_Missense_Mutation_p.D660N|LUZP1_ENST00000374623.3_Missense_Mutation_p.D660N|LUZP1_ENST00000314174.5_Missense_Mutation_p.D660N			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	660						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AAGTCATCATCTGAGTCTGGC	0.478000													79	157					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117564240	117564240	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:117564240C>A	ENST00000256652.4	+	7	2121	c.2063C>A	c.(2062-2064)tCc>tAc	p.S688Y	CD101_ENST00000369470.1_Missense_Mutation_p.S688Y	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	688	Ig-like C2-type 6.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAAGAGCTCTCCATCAACTCC	0.358000													5	32					0.184627	0.185058	1	1	0
PPP3CB	5532	broad.mit.edu	37	10	75239090	75239090	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:75239090C>G	ENST00000360663.5	-	2	382	c.271G>C	c.(271-273)Gaa>Caa	p.E91Q	PPP3CB_ENST00000394822.2_Missense_Mutation_p.E91Q|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E91Q|PPP3CB_ENST00000545874.1_Missense_Mutation_p.E5Q|PPP3CB_ENST00000342558.3_Missense_Mutation_p.E91Q|PPP3CB_ENST00000394828.2_Missense_Mutation_p.E91Q			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	91	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					ATTGGAGCTTCTACTTCTATC	0.368000													40	134					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64033997	64033997	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:64033997C>T	ENST00000540288.1	+	29	3490	c.3387C>T	c.(3385-3387)atC>atT	p.I1129I	PLCB3_ENST00000325234.5_Silent_p.I1062I|PLCB3_ENST00000279230.6_Silent_p.I1129I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1129					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTCGGCACATCACTGAGTCAG	0.632000													16	36					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594883	31594883	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:31594883G>A	ENST00000376033.2	+	11	1432	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E400K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	400	2 X type B repeats.|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						TCGGCCTCCAGAGACAGAGCC	0.672000													11	44					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52940569	52940569	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52940569C>A	ENST00000371544.3	-	13	2924	c.2662G>T	c.(2662-2664)Gat>Tat	p.D888Y	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D888Y	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	888					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGGTTATCATCATCATTAAGG	0.378000													29	45					1.7881e-09	1.96829e-09	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50719197	50719197	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:50719197C>T	ENST00000449103.1	-	24	4109	c.3969G>A	c.(3967-3969)ctG>ctA	p.L1323L	PLXNB2_ENST00000359337.4_Silent_p.L1323L			O15031	PLXB2_HUMAN	plexin B2	1323					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACTTGCTGTTCAGCAGGTTGG	0.657000													8	29					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32421006	32421006	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:32421006C>T	ENST00000309951.6	+	8	1089	c.951C>T	c.(949-951)atC>atT	p.I317I	ACO1_ENST00000541043.1_Silent_p.I218I|ACO1_ENST00000379923.1_Silent_p.I317I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AAGTTAGTATCACGTACCTGG	0.483000													29	93					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88394928	88394928	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:88394928C>G	ENST00000418378.1	-	12	2565	c.1994G>C	c.(1993-1995)tGa>tCa	p.*665S	SPARCL1_ENST00000282470.6_Nonstop_Mutation_p.*665S|SPARCL1_ENST00000503414.1_Nonstop_Mutation_p.*540S	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	0					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AATCTTCGTTCAAAACAAGAG	0.323000													15	93					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	113002302	113002302	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:113002302C>G	ENST00000495514.1	+	16	3180	c.2476C>G	c.(2476-2478)Ctg>Gtg	p.L826V	BOC_ENST00000355385.3_Missense_Mutation_p.L826V|BOC_ENST00000273395.4_Missense_Mutation_p.L827V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	826					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ACCCCCAACTCTGGCCCCACC	0.572000													30	143					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419600	123419600	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:123419600C>T	ENST00000360772.3	-	19	3093	c.2715G>A	c.(2713-2715)gtG>gtA	p.V905V	MYLK_ENST00000360304.3_Silent_p.V905V|MYLK_ENST00000346322.5_Silent_p.V836V|MYLK_ENST00000475616.1_Silent_p.V905V|MYLK_ENST00000359169.1_Silent_p.V905V			Q15746	MYLK_HUMAN	myosin light chain kinase	905	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTTTGTACTCACCTTCTTCC	0.592000													8	55					0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53761655	53761655	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:53761655G>A	ENST00000370888.1	+	6	809	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	178						cytoplasm|membrane		p.E178*(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AAGACTAGAAGAACTTGATTT	0.313000													14	44					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719907	52719907	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:52719907G>A	ENST00000322088.6	+	9	1177	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	PPP2R1A_ENST00000444322.2_Silent_p.L318L|PPP2R1A_ENST00000462990.1_Silent_p.L194L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	373	PP2A subunit B binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGCTCAGCTGAAGGATGAGG	0.547000			Mis		clear cell ovarian carcinoma								30	50					0	0	1	0	0
VPS4A	27183	broad.mit.edu	37	16	69354143	69354143	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69354143G>C	ENST00000254950.11	+	7	876	c.720G>C	c.(718-720)gaG>gaC	p.E240D	COG8_ENST00000564419.1_5'UTR|RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.E264D	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	240					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ATGAAAATGAGAGTGAGGCCG	0.582000													9	33					0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95782795	95782795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:95782795G>C	ENST00000414645.2	+	13	1549	c.1450G>C	c.(1450-1452)Gaa>Caa	p.E484Q		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	484						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AATGGTTATAGAAGGGTAAGT	0.393000													14	62					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139183796	139183796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:139183796C>G	ENST00000423192.1	+	10	1392	c.1231C>G	c.(1231-1233)Caa>Gaa	p.Q411E	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q411E|ECT2L_ENST00000541398.1_Missense_Mutation_p.Q342E			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	411					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGCTGTCTCAACTAACTGG	0.453000			"""N, Splice, Mis"""		ETP ALL								9	65					0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5025300	5025300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:5025300C>T	ENST00000256495.3	+	5	1765	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	388						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CTTGCCAGCTCATCCGTCCGT	0.547000													67	84					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198257807	198257807	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198257807T>C	ENST00000335508.6	-	24	3736	c.3645A>G	c.(3643-3645)gtA>gtG	p.V1215V		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATTGGGCCATACATAGTTCA	0.448000			Mis		myelodysplastic syndrome								21	54					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202278242	202278242	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202278242G>A	ENST00000367278.3	+	15	1433	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	LGR6_ENST00000255432.7_Silent_p.L396L|LGR6_ENST00000439764.2_Silent_p.L309L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	448						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGATGCATCTGAAGCTCAAAG	0.567000													5	51					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24868970	24868970	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24868970G>C	ENST00000424834.2	+	12	3647	c.3174G>C	c.(3172-3174)aaG>aaC	p.K1058N	RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.K936N|SPATA13_ENST00000382108.3_Missense_Mutation_p.K1058N|SPATA13_ENST00000343003.6_Missense_Mutation_p.K377N|SPATA13_ENST00000382095.4_Missense_Mutation_p.K433N|SPATA13_ENST00000409126.1_Missense_Mutation_p.K293N|SPATA13_ENST00000399949.2_Missense_Mutation_p.K355N			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	433					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCATCGACAAGATAGCTCGCT	0.547000													9	57					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132625003	132625003	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:132625003C>T	ENST00000397333.3	-	11	1676	c.1638G>A	c.(1636-1638)atG>atA	p.M546I		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	546	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GCTTCAGGATCATCCTCCTCT	0.627000													25	69					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73712862	73712862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:73712862C>T	ENST00000427855.1	+	5	415	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	PAPLN_ENST00000555445.1_Missense_Mutation_p.R105W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R105W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R105W|PAPLN_ENST00000381166.3_Missense_Mutation_p.R105W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	105						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCGGCGGTATCGGTGGCTGCC	0.667000													3	9					0	0	1	0	0
TARDBP	23435	broad.mit.edu	37	1	11082344	11082344	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11082344G>C	ENST00000240185.3	+	6	992	c.878G>C	c.(877-879)aGa>aCa	p.R293T	TARDBP_ENST00000439080.2_Missense_Mutation_p.R177T|TARDBP_ENST00000315091.3_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	293	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GGTAATAGCAGAGGGGGTGGA	0.483000													11	71					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200587382	200587382	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200587382G>C	ENST00000367350.4	-	2	908	c.470C>G	c.(469-471)tCt>tGt	p.S157C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	157	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ACTTTCCTTAGAAACACCATT	0.353000													24	61					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417770	70417770	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:70417770G>C	ENST00000327305.6	-	9	1725	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	NETO1_ENST00000583169.1_Silent_p.L356L|NETO1_ENST00000299430.2_Silent_p.L355L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	356					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGATGATAATGAGGATGATCA	0.463000													18	80					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	132937919	132937919	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:132937919C>A	ENST00000253861.4	+	1	91	c.62C>A	c.(61-63)tCg>tAg	p.S21*	EXOC4_ENST00000393161.2_Nonsense_Mutation_p.S21*	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	21					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAAGACCCCTCGGGGCTGCTC	0.617000													12	60					2.27111e-07	2.43955e-07	1	1	0
FBN1	2200	broad.mit.edu	37	15	48791227	48791227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:48791227G>C	ENST00000316623.5	-	18	2577	c.2122C>G	c.(2122-2124)Cag>Gag	p.Q708E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	708	TB 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGAGTGCCTGATATTCCGCT	0.453000													22	105					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150463082	150463082	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150463082C>G	ENST00000369064.3	+	4	427	c.393C>G	c.(391-393)ttC>ttG	p.F131L	TARS2_ENST00000369054.2_Missense_Mutation_p.F131L|TARS2_ENST00000606933.1_Missense_Mutation_p.F131L|TARS2_ENST00000438568.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	131					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCCAGGTGTTCTGGCACTCCA	0.488000													22	125					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34912556	34912556	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:34912556C>T	ENST00000246535.3	+	6	977	c.930C>T	c.(928-930)ctC>ctT	p.L310L	PDCD2L_ENST00000587065.2_Silent_p.L8L	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	310						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCAGCATGCTCAAGAGTGCTA	0.408000													50	137					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321993	52321993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:52321993C>T	ENST00000356297.4	-	17	2291	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D731N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	731					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACGTGCCGTCGTGGGCGCGG	0.677000													5	24					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71866215	71866215	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:71866215G>A	ENST00000377245.4	+	21	3464	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K	TJP2_ENST00000535702.1_Missense_Mutation_p.E1053K|TJP2_ENST00000539225.1_Missense_Mutation_p.E1117K|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000453658.2_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1086					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAAATATTTGAGAAGATGGA	0.468000													11	43					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94496677	94496677	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:94496677C>G	ENST00000370225.3	-	28	4215		c.e28-1			NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGAGCACGATCTGTGGGAGAA	0.473000													9	25					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25016336	25016336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:25016336G>T	ENST00000400382.1	+	8	1179	c.424G>T	c.(424-426)Gag>Tag	p.E142*	GGT1_ENST00000400383.1_Nonsense_Mutation_p.E142*|GGT1_ENST00000248923.4_Nonsense_Mutation_p.E142*|GGT1_ENST00000406383.2_Nonsense_Mutation_p.E142*|GGT1_ENST00000400380.1_Nonsense_Mutation_p.E142*			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	142					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCGAGGCTATGAGCTGGCACA	0.687000													5	26					0.000602214	0.000620507	1	1	0
RARG	5916	broad.mit.edu	37	12	53608346	53608346	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53608346C>T	ENST00000425354.2	-	6	1007	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	RARG_ENST00000327550.3_Missense_Mutation_p.E102K|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.E174K|RARG_ENST00000338561.5_Missense_Mutation_p.E163K|RARG_ENST00000543726.1_Missense_Mutation_p.E152K	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	174	Hinge.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGTGACCCTTCTTCCTTCACC	0.557000													11	25					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479338	14479338	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:14479338C>T	ENST00000581457.1	-	0	570					NR_024076.1																						CCCCGCGCCTCGCGCACTCAA	0.512000													5	7					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118390449	118390449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118390449G>T	ENST00000534358.1	+	32	11286	c.11263G>T	c.(11263-11265)Gag>Tag	p.E3755*	RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.E3714*|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.E3752*|RP11-770J1.3_ENST00000556583.1_RNA	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAAGCCAGAGGAGGCCAATGA	0.522000													16	107					3.45872e-05	3.61874e-05	1	1	0
RUVBL2	10856	broad.mit.edu	37	19	49514296	49514296	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49514296C>T	ENST00000413176.2	+	10	1841	c.693C>T	c.(691-693)atC>atT	p.I231I	RUVBL2_ENST00000595090.1_Silent_p.I276I|RUVBL2_ENST00000601968.1_Silent_p.I231I			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	276					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GTGAGCAGATCAATGCCAAGG	0.637000													6	23					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38359724	38359724	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:38359724C>G	ENST00000273173.4	+	10	1860	c.1769C>G	c.(1768-1770)tCa>tGa	p.S590*	SLC22A14_ENST00000448498.1_Nonsense_Mutation_p.S590*	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	590						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		AAGGAAACATCATCTGATGAT	0.488000													21	109					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233399028	233399028	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233399028G>A	ENST00000258385.3	+	11	1379	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	CHRND_ENST00000457943.2_Missense_Mutation_p.M255I|CHRND_ENST00000543200.1_Missense_Mutation_p.M434I	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	449					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TTAACCACATGAGGGACCAGA	0.502000													12	39					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8484313	8484313	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:8484313G>A	ENST00000381196.4	-	27	3762	c.3219C>T	c.(3217-3219)gtC>gtT	p.V1073V	PTPRD_ENST00000356435.5_Silent_p.V1073V|PTPRD_ENST00000397617.3_Silent_p.V652V|PTPRD_ENST00000537002.1_Silent_p.V659V|PTPRD_ENST00000355233.5_Silent_p.V662V|PTPRD_ENST00000397611.3_Silent_p.V659V|PTPRD_ENST00000360074.4_Silent_p.V1060V|PTPRD_ENST00000540109.1_Silent_p.V1073V|PTPRD_ENST00000358503.5_Silent_p.V1051V|PTPRD_ENST00000397606.3_Silent_p.V652V|PTPRD_ENST00000486161.1_Silent_p.V662V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1073	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		GCTTCAGGTTGACAATTAACT	0.423000										TSP Lung(15;0.13)			21	25					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158074052	158074052	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:158074052G>A	ENST00000264428.4	+	9	1357	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.E363K	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	363					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GGTTGAAGCTGAAAAAGCCAG	0.448000													27	54					0	0	1	0	0
TAF13	6884	broad.mit.edu	37	1	109617651	109617651	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:109617651C>A	ENST00000338366.5	-	2	118	c.64G>T	c.(64-66)Gaa>Taa	p.E22*		NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN	TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa	22					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGTCCACCTTCTGCACCTCCT	0.294000													41	239					9.39024e-22	1.07783e-21	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618762	77618762	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:77618762C>G	ENST00000521891.2	+	2	2887	c.2439C>G	c.(2437-2439)ctC>ctG	p.L813L	ZFHX4_ENST00000518282.1_Silent_p.L813L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.L813L|ZFHX4_ENST00000050961.6_Silent_p.L813L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	813						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGGGCCTCGCCCCGGCGG	0.507000										HNSCC(33;0.089)			3	17					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26890912	26890912	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26890912G>C	ENST00000308360.7	-	4	675	c.300C>G	c.(298-300)atC>atG	p.I100M	PIGS_ENST00000543734.1_Missense_Mutation_p.I39M|PIGS_ENST00000395346.2_Missense_Mutation_p.I92M	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	100					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					AACGGCATTTGATTTTCATTT	0.522000													17	110					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971533	34971533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:34971533G>A	ENST00000242315.3	+	2	320	c.238G>A	c.(238-240)Gag>Aag	p.E80K	KIAA1045_ENST00000544237.1_Missense_Mutation_p.E80K|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	80							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CGCAGCCTGGGAGCGGCTCCG	0.637000													26	88					0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161138284	161138284	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161138284C>T	ENST00000367999.4	+	6	800	c.534C>T	c.(532-534)ctC>ctT	p.L178L	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Silent_p.L178L	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	178					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCGTGAGCTCAGCATCAGGT	0.542000													17	232					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64937590	64937590	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:64937590C>T	ENST00000399262.2	-	23	7329	c.7111G>A	c.(7111-7113)Gat>Aat	p.D2371N	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D2189N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D2134N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2371	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCATCCAAATCTTCTTCCTCA	0.363000													5	16					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45424173	45424173	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:45424173C>T	ENST00000321429.4	+	3	416	c.9C>T	c.(7-9)ttC>ttT	p.F3F	DUOX1_ENST00000389037.3_Silent_p.F3F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	3					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCATGGGCTTCTGCCTGGCTC	0.507000													16	66					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30733035	30733035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:30733035C>A	ENST00000215793.8	-	13	2240	c.2086G>T	c.(2086-2088)Gag>Tag	p.E696*	SF3A1_ENST00000439242.1_Nonsense_Mutation_p.E631*	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CGCAGGAACTCCTCCTCTGGC	0.557000													24	70					4.87955e-14	5.51732e-14	1	1	0
SEPT5	5413	broad.mit.edu	37	22	19709228	19709228	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19709228G>T	ENST00000438754.2	+	8	1090	c.810G>T	c.(808-810)cgG>cgT	p.R270R	SEPT5_ENST00000383045.3_Silent_p.R270R|SEPT5_ENST00000455784.2_Silent_p.R261R|SEPT5_ENST00000406395.1_Silent_p.R261R	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	261					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AGCGGGTCCGGGGCCGACTGT	0.682000													16	40					4.7546e-09	5.20262e-09	1	1	0
CAPN5	726	broad.mit.edu	37	11	76825378	76825378	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:76825378G>C	ENST00000278559.3	+	5	786	c.597G>C	c.(595-597)ctG>ctC	p.L199L	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Silent_p.L239L|CAPN5_ENST00000529629.1_Silent_p.L199L	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	199	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CCATCGACCTGACCGAGGGTG	0.582000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	309					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74749005	74749005	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:74749005G>T	ENST00000567435.1	-	3	655	c.192C>A	c.(190-192)atC>atA	p.I64I	UBL7_ENST00000395081.2_Silent_p.I64I|UBL7_ENST00000564488.1_Silent_p.I64I|UBL7_ENST00000565335.1_Silent_p.I64I|UBL7_ENST00000361351.4_Silent_p.I64I			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	64	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GACCACAGTAGATCAGATCTA	0.418000													12	87					0.000151284	0.000157136	1	1	0
TMEFF2	23671	broad.mit.edu	37	2	193049159	193049159	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:193049159C>T	ENST00000409056.3	-	3	332	c.333G>A	c.(331-333)caG>caA	p.Q111Q	TMEFF2_ENST00000392314.1_Silent_p.Q111Q|TMEFF2_ENST00000272771.5_Silent_p.Q111Q			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	111	Kazal-like 1.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AACACTCATTCTGGTAGCTCT	0.473000													14	54					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83788011	83788011	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:83788011G>A	ENST00000432794.1	-	10	1310	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	SEC31A_ENST00000505984.1_Silent_p.L383L|SEC31A_ENST00000443462.2_Silent_p.L378L|SEC31A_ENST00000508502.1_Silent_p.L383L|SEC31A_ENST00000448323.1_Silent_p.L383L|SEC31A_ENST00000326950.5_Silent_p.L383L|SEC31A_ENST00000264405.5_Silent_p.L155L|SEC31A_ENST00000348405.4_Silent_p.L383L|SEC31A_ENST00000513858.1_Silent_p.L383L|SEC31A_ENST00000311785.7_Silent_p.L383L|SEC31A_ENST00000509142.1_Silent_p.L383L|SEC31A_ENST00000508479.1_Silent_p.L383L|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Silent_p.L383L|SEC31A_ENST00000395310.2_Silent_p.L383L|SEC31A_ENST00000505472.1_Silent_p.L383L|SEC31A_ENST00000500777.2_Silent_p.L383L			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	383	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGCTTCTTCAGAGGCAGCACT	0.458000													43	135					0	0	1	0	0
TARDBP	23435	broad.mit.edu	37	1	11082329	11082329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11082329G>A	ENST00000240185.3	+	6	977	c.863G>A	c.(862-864)gGa>gAa	p.G288E	TARDBP_ENST00000439080.2_Missense_Mutation_p.G172E|TARDBP_ENST00000315091.3_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	288	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AATCAGGGTGGATTTGGTAAT	0.453000													14	73					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166864689	166864689	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:166864689G>A	ENST00000510118.1	-	15	1523	c.1183C>T	c.(1183-1185)Cat>Tat	p.H395Y	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.H281Y|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.H378Y|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.H281Y|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.H370Y			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	370					axon guidance|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|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		AACAGGTGATGAGCGTTTGCA	0.557000													21	39					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68596209	68596209	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:68596209G>T	ENST00000423218.2	-	29	3494	c.3399C>A	c.(3397-3399)atC>atA	p.I1133I	ITGA11_ENST00000315757.7_Silent_p.I1132I			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1132					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CTTGCTTGGAGATCTCAAACA	0.637000													12	49					5.50884e-06	5.80612e-06	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144882612	144882612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:144882612G>A	ENST00000369359.4	-	27	3856	c.3818C>T	c.(3817-3819)cCa>cTa	p.P1273L	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P1273L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1136L|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P1136L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1136					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGAGCTCTGGAGTAAGTTT	0.463000			T	PDGFRB	MPD								53	312					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68948008	68948008	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:68948008C>T	ENST00000456315.2	-	8	1597	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	495					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACAACTCCTCTTGGTCTTGA	0.368000													19	74					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110492237	110492237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:110492237G>A	ENST00000378402.5	+	55	9300	c.9196G>A	c.(9196-9198)Gac>Aac	p.D3066N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3066	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTGTAGCTGACATAGATAT	0.338000										HNSCC(38;0.096)			5	13					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57099862	57099862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:57099862C>T	ENST00000278412.2	-	7	1133	c.867G>A	c.(865-867)atG>atA	p.M289I		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	289					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCACTCGTTCATGTTCAGAG	0.522000													26	129					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26714780	26714780	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:26714780C>A	ENST00000381340.3	-	35	5152	c.4736G>T	c.(4735-4737)aGa>aTa	p.R1579I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1579					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGCTGATAGTCTCCAACCCAT	0.448000													9	52					3.09899e-07	3.31501e-07	1	1	0
DUSP7	1849	broad.mit.edu	37	3	52090218	52090218	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:52090218C>A	ENST00000495880.1	-	1	348	c.165G>T	c.(163-165)aaG>aaT	p.K55N	DUSP7_ENST00000296483.6_Missense_Mutation_p.K4N			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	55					inactivation of MAPK activity|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTCGGCGCTCTTGCAGGGCA	0.781000													3	7					0.115264	0.115984	1	1	0
LINC00886	730091	broad.mit.edu	37	3	156527720	156527720	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:156527720C>T	ENST00000472943.1	-	0	148					NR_038387.1																						GTTTCCACCTCACTGAAGAAG	0.458000													11	55					0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4500496	4500496	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:4500496C>G	ENST00000262375.6	+	10	1414	c.1337C>G	c.(1336-1338)tCt>tGt	p.S446C	DNAJA3_ENST00000355296.4_Missense_Mutation_p.S446C|DNAJA3_ENST00000431375.2_Missense_Mutation_p.S293C	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	446					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CTCACCAGCTCTGGTAAGGAG	0.607000													5	8					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587800	55587800	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:55587800T>C	ENST00000333976.4	+	1	715	c.695T>C	c.(694-696)gTc>gCc	p.V232A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATGCGTTCAGTCAGTGGGCGC	0.498000													16	105					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71748679	71748679	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:71748679C>A	ENST00000393524.2	-	1	753	c.20G>T	c.(19-21)aGa>aTa	p.R7I	PHLPP2_ENST00000360429.3_Missense_Mutation_p.R7I|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R7I|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R7I|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R42I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	7						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CAAACAATTTCTGCTCCCATT	0.393000													21	40					2.39556e-15	2.7206e-15	1	1	0
RHBDF1	64285	broad.mit.edu	37	16	109026	109026	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:109026C>T	ENST00000262316.6	-	17	2236	c.2094G>A	c.(2092-2094)ctG>ctA	p.L698L		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	698					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGACACCACTCAGCAGGTAGA	0.617000													7	77					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183582961	183582961	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:183582961G>A	ENST00000264065.7	+	3	563	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.E50K	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10		J.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGCAGTAGAGAAATAAGACA	0.338000													18	69					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18025324	18025324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:18025324G>C	ENST00000205890.5	+	2	3548	c.3210G>C	c.(3208-3210)caG>caC	p.Q1070H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1070	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTGTGACCAGACCAGGGCCA	0.647000													22	75					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26507029	26507029	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:26507029C>T	ENST00000361530.6	+	2	283	c.138C>T	c.(136-138)ctC>ctT	p.L46L	CNKSR1_ENST00000374253.5_Silent_p.L46L|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_3'UTR			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	46	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAAAGCCTCGAGGCTCTGG	0.622000													28	66					0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117576550	117576550	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117576550C>G	ENST00000254029.3	+	17	2686	c.2291C>G	c.(2290-2292)tCc>tGc	p.S764C	WDR44_ENST00000371825.3_Missense_Mutation_p.S764C|WDR44_ENST00000371822.5_Missense_Mutation_p.S675C	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	764						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TCAAATGACTCCAGAATCAGA	0.338000													25	49					0	0	1	0	0
ATP5G1	516	broad.mit.edu	37	17	46973041	46973041	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:46973041C>G	ENST00000393366.2	+	5	424	c.321C>G	c.(319-321)ctC>ctG	p.L107L	RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000513781.1_3'UTR|ATP5G1_ENST00000503641.1_Silent_p.L98L|ATP5G1_ENST00000506855.1_Silent_p.L81L|ATP5G1_ENST00000355938.5_Silent_p.L107L	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	107					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			liver(1)|lung(1)	2						AGCAGCAGCTCTTCTCCTATG	0.577000													111	131					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87006664	87006664	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:87006664G>A	ENST00000331536.3	+	10	1061		c.e10-1		CROT_ENST00000442291.1_Splice_Site|CROT_ENST00000419147.2_Splice_Site	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATTTATTTTAGATTATTGCAG	0.323000													9	19					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8617577	8617577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:8617577C>G	ENST00000337907.3	-	6	1162	c.528G>C	c.(526-528)aaG>aaC	p.K176N	RERE_ENST00000400907.2_Missense_Mutation_p.K176N|RERE_ENST00000400908.2_Missense_Mutation_p.K176N	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	176	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGGTCCCTCTTACTCTGAA	0.438000													23	59					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139982608	139982608	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139982608T>A	ENST00000371589.4	+	2	374	c.301T>A	c.(301-303)Tac>Aac	p.Y101N		NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	101					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ACTCCTCTTCTACATCAACTT	0.438000													17	118					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90252913	90252913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:90252913G>A	ENST00000469640.2	+	4	715	c.340G>A	c.(340-342)Gag>Aag	p.E114K	DAPK1_ENST00000472284.1_Missense_Mutation_p.E114K|DAPK1_ENST00000358077.5_Missense_Mutation_p.E114K|DAPK1_ENST00000408954.3_Missense_Mutation_p.E114K|DAPK1_ENST00000491893.1_Missense_Mutation_p.E114K			P53355	DAPK1_HUMAN	death-associated protein kinase 1	114	Protein kinase.				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						TTTAACTGAAGAGGAAGCAAC	0.413000									Chronic Lymphocytic Leukemia, Familial Clustering of				27	45					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160932117	160932117	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:160932117C>T	ENST00000335388.5	-	0	39					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GTAAACGCATCCACAAACCAG	0.433000													15	79					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56347534	56347534	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56347534C>A	ENST00000331886.5	+	24	2644	c.2190C>A	c.(2188-2190)ttC>ttA	p.F730L	DGKA_ENST00000394147.1_Missense_Mutation_p.F730L|DGKA_ENST00000551156.1_Missense_Mutation_p.F730L|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	730					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCACCAATTTCTTTGGCTTCT	0.582000													17	47					1.02788e-11	1.14813e-11	1	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798344	55798344	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:55798344C>T	ENST00000313555.1	+	1	450	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGGCATATTTCAGTGGAAGTA	0.453000													17	235					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110394	20110394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:20110394C>A	ENST00000381569.1	-	3	1405	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*	LZTS1_ENST00000522290.1_Nonsense_Mutation_p.E350*|LZTS1_ENST00000265801.6_Nonsense_Mutation_p.E350*			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	350					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATGAGGCTCTCGAGCTCCTGC	0.652000													9	20					0.0477658	0.0481769	1	1	0
ITM2A	9452	broad.mit.edu	37	X	78616609	78616609	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:78616609C>G	ENST00000434584.2	-	5	973	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Missense_Mutation_p.E257Q	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	257	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATCTTGGTCTCAACAATAAAT	0.363000													13	29					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103343288	103343288	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:103343288G>A	ENST00000267273.6	-	2	162	c.157C>T	c.(157-159)Cat>Tat	p.H53Y		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	53							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TGGAGGCTATGAAGAGATGGT	0.403000													22	105					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196883726	196883726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:196883726G>T	ENST00000367416.2	+	8	1416	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	CFHR4_ENST00000367418.2_Nonsense_Mutation_p.E181*|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Nonsense_Mutation_p.E181*|CFHR4_ENST00000608469.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CGATGGATATGAAATCAGTTA	0.388000													16	60					1.02788e-11	1.14813e-11	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130287183	130287183	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:130287183C>T	ENST00000358511.6	+	5	2167	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	COL6A6_ENST00000453409.2_Silent_p.F712F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	712	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCAGTACTTCAGCCCCACCA	0.502000													21	93					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6540507	6540507	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:6540507C>A	ENST00000263125.5	-	5	492	c.393G>T	c.(391-393)atG>atT	p.M131I	PRKCQ_ENST00000397176.2_Missense_Mutation_p.M131I|PRKCQ_ENST00000539722.1_Missense_Mutation_p.M6I	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	131					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CAAATTCATTCATGTCCTTTG	0.527000													18	30					3.52763e-06	3.72715e-06	1	1	0
FRY	10129	broad.mit.edu	37	13	32811880	32811880	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:32811880G>C	ENST00000380250.3	+	44	6671	c.6175G>C	c.(6175-6177)Gaa>Caa	p.E2059Q		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2059					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)		TTTTGAGTTTGAATACTTAAT	0.498000													12	63					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13635940	13635940	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:13635940G>T	ENST00000361306.1	+	8	1127	c.870G>T	c.(868-870)atG>atT	p.M290I	EGFL6_ENST00000380602.3_Missense_Mutation_p.M290I	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	290					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAACAGCATGAAAAAGAAGG	0.418000													68	117					1.31171e-36	1.51776e-36	1	1	0
ASF1B	55723	broad.mit.edu	37	19	14232458	14232458	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232458G>A	ENST00000263382.3	-	3	787	c.288C>T	c.(286-288)ctC>ctT	p.L96L	ASF1B_ENST00000592798.1_Intron|ASF1B_ENST00000474890.1_Silent_p.L96L	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	96	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						TGCAGGTGATGAGGACCACAG	0.592000													9	44					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27456503	27456503	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:27456503A>G	ENST00000337929.3	+	7	1164	c.691A>G	c.(691-693)Aag>Gag	p.K231E	IL21R_ENST00000395754.4_Missense_Mutation_p.K231E|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Missense_Mutation_p.K231E|IL21R_ENST00000564089.1_Missense_Mutation_p.K231E	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	231					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCCAGAGTTAAAGGAAGGCTG	0.532000			T	BCL6	NHL								11	31					0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6954828	6954828	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6954828G>A	ENST00000229264.3	+	10	1183	c.778G>A	c.(778-780)Gag>Aag	p.E260K	CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.E259K	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	260					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGCAGACCAGGAGCTGATCTG	0.607000													47	135					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148571931	148571931	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:148571931A>G	ENST00000340855.6	-	7	1129	c.920T>C	c.(919-921)tTg>tCg	p.L307S	IDS_ENST00000422081.2_Missense_Mutation_p.L96S|IDS_ENST00000541269.1_Missense_Mutation_p.L96S|IDS_ENST00000370441.4_Missense_Mutation_p.L307S|IDS_ENST00000490775.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	307						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGTGTATCCAAATATGACAC	0.433000													20	91					0	0	1	0	0
MICU2	221154	broad.mit.edu	37	13	22077089	22077089	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:22077089C>G	ENST00000382374.4	-	9	974	c.909G>C	c.(907-909)gtG>gtC	p.V303V	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		ACTTCTCTCTCACATTTTTCC	0.313000													9	70					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18690931	18690931	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:18690931G>C	ENST00000396576.2	+	2	628	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	CACNB2_ENST00000377319.3_Missense_Mutation_p.E43Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.E70Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.E50Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.E44Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.E70Q|CACNB2_ENST00000377328.1_Missense_Mutation_p.E98Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.E98Q|CACNB2_ENST00000324631.7_Missense_Mutation_p.E98Q	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	98					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTGCGCAGAGAAGCGGAGCG	0.542000													6	71					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24566966	24566966	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:24566966G>A	ENST00000319715.4	+	5	811	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	RBBP6_ENST00000381039.3_Missense_Mutation_p.E127K|RBBP6_ENST00000348022.2_Missense_Mutation_p.E127K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	127					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAATGCTTCTGAAGAAGATAA	0.363000													21	120					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47859135	47859135	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:47859135G>C	ENST00000371764.4	+	19	2223	c.2214G>C	c.(2212-2214)aaG>aaC	p.K738N	ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	738						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCACAGCCAAGAAGCAAAAGC	0.433000													21	125					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70360539	70360539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:70360539G>A	ENST00000333646.6	+	42	6307	c.6108G>A	c.(6106-6108)atG>atA	p.M2036I	MED12_ENST00000374102.1_Missense_Mutation_p.M2032I|MED12_ENST00000374080.3_Missense_Mutation_p.M2033I	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2033	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGACTCCAATGAGTGCCCAGG	0.567000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						27	108					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481806	38481806	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:38481806G>A	ENST00000263409.4	-	20	3347	c.3185C>T	c.(3184-3186)tCc>tTc	p.S1062F	LIFR_ENST00000453190.2_Missense_Mutation_p.S1062F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1062					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GGAATTAATGGAGCATGGACT	0.403000			T	PLAG1	salivary adenoma								20	203					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24849449	24849449	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:24849449G>A	ENST00000313367.2	-	20	2745	c.2294C>T	c.(2293-2295)tCt>tTt	p.S765F	OSBPL3_ENST00000431825.2_Missense_Mutation_p.S698F|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S729F|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S729F|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S698F|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S734F|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S734F	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	765					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACAGGCAGAAGAGGAGCCGCC	0.547000													29	55					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223983926	223983926	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:223983926G>C	ENST00000391878.2	-	14	2696	c.1928C>G	c.(1927-1929)tCt>tGt	p.S643C	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S772C|TP53BP2_ENST00000391879.2_Missense_Mutation_p.S5C	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	766					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TGATGGGACAGAGATGGTCTC	0.468000													25	115					0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38302448	38302448	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:38302448C>T	ENST00000260630.3	-	2	485	c.84G>A	c.(82-84)tcG>tcA	p.S28S	CYP1B1_ENST00000407341.1_Silent_p.S28S|CYP1B1_ENST00000494864.1_Intron	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	28			S -> W (in POAG).		visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TGGCCAGCACCGACAGGAGTA	0.682000													5	13					0	0	1	0	0
DDAH1	23576	broad.mit.edu	37	1	85787136	85787136	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:85787136C>G	ENST00000284031.8	-	6	951	c.857G>C	c.(856-858)tGa>tCa	p.*286S	DDAH1_ENST00000426972.3_Nonstop_Mutation_p.*193S|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000542148.1_Nonstop_Mutation_p.*186S|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000535924.2_Nonstop_Mutation_p.*183S|DDAH1_ENST00000539042.1_Nonstop_Mutation_p.*286S	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	0					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CTCTGCAGCTCAGGAGTCTAC	0.532000													12	43					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41633861	41633861	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41633861C>A	ENST00000331105.2	+	10	1422	c.1350C>A	c.(1348-1350)ctC>ctA	p.L450L		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	450					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TTCTGTACCTCACCGCCATCC	0.647000													3	17					0.004672	0.0047419	1	1	0
TMEM63C	57156	broad.mit.edu	37	14	77712285	77712285	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:77712285C>G	ENST00000298351.4	+	17	1595	c.1451C>G	c.(1450-1452)tCa>tGa	p.S484*		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	484						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTTCTAGATCAAGTCAGAAT	0.433000													12	160					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365511	7365511	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7365511G>T	ENST00000311403.4	-	4	3129	c.2790C>A	c.(2788-2790)ctC>ctA	p.L930L	ZBTB4_ENST00000380599.4_Silent_p.L930L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	930					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGGCGGCAAGGAGCTGGGGGC	0.627000													30	128					3.73148e-12	4.1825e-12	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89885637	89885637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:89885637G>A	ENST00000534061.1	+	6	1011	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	NAALAD2_ENST00000375944.3_Missense_Mutation_p.G261S|NAALAD2_ENST00000525171.1_Missense_Mutation_p.G261S|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G261S	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	261					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTCACTCCAGGCTATCCAGC	0.448000													16	33					0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228220436	228220436	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:228220436G>C	ENST00000353339.3	+	10	1297	c.856G>C	c.(856-858)Gat>Cat	p.D286H	MFF_ENST00000349901.7_Missense_Mutation_p.D182H|MFF_ENST00000409616.1_Missense_Mutation_p.D182H|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000392059.1_Missense_Mutation_p.D286H|MFF_ENST00000304593.9_Missense_Mutation_p.D235H|MFF_ENST00000524634.1_Missense_Mutation_p.D33H|MFF_ENST00000354503.6_Missense_Mutation_p.D162H|MFF_ENST00000337110.7_Missense_Mutation_p.D187H|MFF_ENST00000409565.1_Missense_Mutation_p.D162H	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	286						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGGAACGTCAGATGACCTGAC	0.323000													65	104					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299235	158299235	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158299235C>A	ENST00000368168.3	-	4	918	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	271	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCCTCCCCATCTGCCACATCC	0.592000													12	235					3.27435e-08	3.54081e-08	1	1	0
CELA3A	10136	broad.mit.edu	37	1	22333440	22333440	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:22333440C>A	ENST00000290122.3	+	5	451	c.432C>A	c.(430-432)ctC>ctA	p.L144L		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCGCCTCACTCCCTCCCGCTG	0.617000													14	95					0.00185496	0.00189464	1	1	0
RBM47	54502	broad.mit.edu	37	4	40440385	40440385	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:40440385C>T	ENST00000319592.4	-	4	1235	c.526G>A	c.(526-528)Gag>Aag	p.E176K	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.E176K|RBM47_ENST00000381793.2_Missense_Mutation_p.E176K|RBM47_ENST00000295971.7_Missense_Mutation_p.E176K|RBM47_ENST00000514014.1_Missense_Mutation_p.E138K			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	176	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCACGCCCTCGGTGACCTTG	0.637000													24	89					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49094851	49094851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49094851G>A	ENST00000395443.2	-	3	1254	c.782C>T	c.(781-783)tCa>tTa	p.S261L	QRICH1_ENST00000357496.2_Missense_Mutation_p.S261L|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Missense_Mutation_p.S261L	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	261	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGGCTGCCCTGAGATGGCGTA	0.612000													11	57					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202272426	202272426	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202272426G>T	ENST00000367278.3	+	10	1038	c.949G>T	c.(949-951)Gac>Tac	p.D317Y	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.D265Y|LGR6_ENST00000439764.2_Missense_Mutation_p.D178Y	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	317						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGTGCCATGGACATCCAGGA	0.502000													17	62					5.35267e-07	5.71631e-07	1	1	0
PTPRG	5793	broad.mit.edu	37	3	62188855	62188855	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:62188855G>A	ENST00000474889.1	+	12	1763	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	PTPRG_ENST00000295874.10_Silent_p.A462A	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	462					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGCCCACAGCGTCTCCTGCCT	0.547000													13	65					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15591524	15591524	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:15591524G>A	ENST00000427411.1	-	12	1723	c.1507C>T	c.(1507-1509)Ctg>Ttg	p.L503L	ACE2_ENST00000252519.3_Silent_p.L503L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	503					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ACATGGAACAGAGATGCGGGG	0.423000													53	135					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61936863	61936863	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:61936863C>T	ENST00000422202.1	+	3	356	c.288C>T	c.(286-288)ttC>ttT	p.F96F	COL20A1_ENST00000358894.6_Silent_p.F96F|COL20A1_ENST00000326996.6_Silent_p.F96F|COL20A1_ENST00000435874.1_Silent_p.F96F			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	96	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCAGATCTTCGAGCTCACTG	0.627000													7	7					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91483662	91483662	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:91483662C>T	ENST00000394275.2	+	9	1436	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000418476.2_Silent_p.L216L	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	216					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)			GCTGGCGGCTCTGCGTACGCT	0.552000													16	59					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7010382	7010382	+	Silent	SNP	G	G	C	rs139372717		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:7010382G>C	ENST00000389658.3	-	26	3783	c.3690C>G	c.(3688-3690)ctC>ctG	p.L1230L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1230	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATAGGCCATGAGCTATCAAA	0.408000													29	80					0	0	1	0	0
EAF1	85403	broad.mit.edu	37	3	15477986	15477986	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:15477986C>T	ENST00000396842.2	+	5	1089	c.664C>T	c.(664-666)Ccg>Tcg	p.P222S	EAF1_ENST00000432764.2_Missense_Mutation_p.P121S|EAF1-AS1_ENST00000597949.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	222	Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						AGCCTCTCCTCCGCAGCCTTC	0.587000													68	39					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122145474	122145474	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:122145474C>A	ENST00000263710.4	-	31	3521	c.3132G>T	c.(3130-3132)caG>caT	p.Q1044H	CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1039H|CLASP1_ENST00000545861.1_Missense_Mutation_p.Q790H|CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1016H|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1023H|CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1022H|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q800H	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1044					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTAGCACAATCTGTGCTGCCT	0.333000													7	33					8.12818e-05	8.4562e-05	1	1	0
ADCK2	90956	broad.mit.edu	37	7	140374519	140374519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:140374519G>A	ENST00000072869.4	+	2	1220	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ADCK2_ENST00000476491.1_Missense_Mutation_p.E348K	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	348	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TAGCTTGCCTGAGATTGTGGA	0.522000													9	28					0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219114628	219114628	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:219114628G>C	ENST00000295685.10	+	9	1123	c.862G>C	c.(862-864)Gaa>Caa	p.E288Q	ARPC2_ENST00000315717.5_Missense_Mutation_p.E288Q|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	288					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CGAGAAAAAAGAAATGAAAAC	0.542000													4	15					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221178	5221178	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:5221178G>A	ENST00000321255.1	-	1	752	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTGGGAGATGCAGGTCT	0.483000													22	52					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327637	16327637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:16327637G>A	ENST00000244769.4	-	8	1841	c.905C>T	c.(904-906)cCt>cTt	p.P302L	ATXN1_ENST00000436367.1_Missense_Mutation_p.P302L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	302					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGCCTCCCGAGGGACAAAGTG	0.657000													8	48					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039181	31039181	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:31039181G>A	ENST00000355537.3	+	4	2802	c.2655G>A	c.(2653-2655)ctG>ctA	p.L885L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	885					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)					CAGATGCTCTGAAAGGCACTG	0.552000													34	144					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145625827	145625827	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145625827C>T	ENST00000349769.3	-	8	841	c.747G>A	c.(745-747)caG>caA	p.Q249Q		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	249					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGTGCACCTTCTGCGTGATGT	0.647000													6	79					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150649798	150649798	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150649798G>A	ENST00000392968.2	-	4	2104	c.984C>T	c.(982-984)ttC>ttT	p.F328F	KCNH2_ENST00000430723.3_Silent_p.F424F|KCNH2_ENST00000330883.4_Silent_p.F84F|KCNH2_ENST00000262186.5_Silent_p.F424F			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	424					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)	AGTAGGGTGTGAAGACAGCCG	0.632000													17	93					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56270423	56270423	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:56270423C>T	ENST00000225371.5	+	2	211	c.101C>T	c.(100-102)tCg>tTg	p.S34L		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	34					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GTGGAGACCTCGGTCCTGCGA	0.597000													66	148					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74751198	74751198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:74751198G>A	ENST00000567435.1	-	2	474	c.11C>T	c.(10-12)tCa>tTa	p.S4L	UBL7_ENST00000395081.2_Missense_Mutation_p.S4L|UBL7_ENST00000564488.1_Missense_Mutation_p.S4L|UBL7_ENST00000565335.1_Missense_Mutation_p.S4L|UBL7_ENST00000361351.4_Missense_Mutation_p.S4L			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	4							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTGCCAGTCTGAGAGAGACAT	0.527000													23	106					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48106932	48106932	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:48106932G>C	ENST00000264316.4	-	6	572	c.487C>G	c.(487-489)Cta>Gta	p.L163V	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	163	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGTCTCAATAGATGTTCTGCC	0.259000													9	60					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16495955	16495955	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16495955G>A	ENST00000455140.2	-	21	2298	c.2232C>T	c.(2230-2232)ttC>ttT	p.F744F	EPS15L1_ENST00000535753.2_Silent_p.F744F|EPS15L1_ENST00000594975.1_Silent_p.F746F|EPS15L1_ENST00000248070.6_Silent_p.F744F	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	744	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACATCTGGCTGAAGTCGGCAA	0.542000													76	92					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56345152	56345152	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:56345152C>T	ENST00000526812.2	-	1	111	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCTGTCAGTCCTAAGAGAATG	0.453000													28	72					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37574872	37574872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:37574872C>T	ENST00000264741.5	+	14	1697	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	ITGA9_ENST00000422441.1_Nonsense_Mutation_p.Q481*	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	481					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CACAGCGCCTCAGTGTCACGA	0.557000													9	34					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496164	41496164	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:41496164G>A	ENST00000400454.1	-	20	4131	c.3654C>T	c.(3652-3654)atC>atT	p.I1218I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1218	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTTTCGGATGATGCCGTTCA	0.572000													34	110					0	0	1	0	0
ZNF688	146542	broad.mit.edu	37	16	30581750	30581750	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30581750G>T	ENST00000223459.6	-	3	1422	c.318C>A	c.(316-318)gtC>gtA	p.V106V	ZNF688_ENST00000395219.1_Silent_p.V92V	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCTGTTTGGGACATCTCCTG	0.488000													13	57					6.53275e-17	7.44537e-17	1	1	0
LRRIQ4	344657	broad.mit.edu	37	3	169539961	169539961	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:169539961G>T	ENST00000340806.6	+	1	252	c.252G>T	c.(250-252)agG>agT	p.R84S		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	84										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACAACCTGAGGAGCCTGTGCC	0.532000													15	124					6.72482e-11	7.47267e-11	1	1	0
PRDM7	11105	broad.mit.edu	37	16	90142264	90142264	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:90142264C>T	ENST00000449207.2	-	1	74	c.55G>A	c.(55-57)Gag>Aag	p.E19K	PRDM7_ENST00000407825.1_5'UTR|PRDM7_ENST00000569206.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	19						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGCTTCCGCTCTGTTCTCTCT	0.592000													8	27					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44900791	44900791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:44900791C>A	ENST00000261866.7	-	19	3320	c.3304G>T	c.(3304-3306)Gaa>Taa	p.E1102*	SPG11_ENST00000535302.2_Nonsense_Mutation_p.E1102*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.E1102*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.E1102*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1102					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCATTTTCTTCATTCTGAACA	0.373000													5	28					0.184627	0.185058	1	1	0
RAN	5901	broad.mit.edu	37	12	131357396	131357396	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:131357396G>T	ENST00000543796.1	+	3	310	c.52G>T	c.(52-54)Gat>Tat	p.D18Y	RAN_ENST00000392367.3_Missense_Mutation_p.D18Y|RAN_ENST00000254675.3_5'UTR|RAN_ENST00000392369.2_Missense_Mutation_p.D18Y|RAN_ENST00000541630.1_5'UTR			P62826	RAN_HUMAN	RAN, member RAS oncogene family	18					androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		ATTGGTTGGTGATGGTGGTAC	0.423000													19	119					1.56452e-12	1.75668e-12	1	1	0
EPHX3	79852	broad.mit.edu	37	19	15342142	15342142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:15342142C>T	ENST00000221730.3	-	3	615	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	EPHX3_ENST00000602233.1_Missense_Mutation_p.R132Q|EPHX3_ENST00000435261.1_Missense_Mutation_p.R132Q	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	132						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GCCATAGCCTCGCAAGTCCAC	0.617000													11	34					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657715	18657715	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:18657715G>C	ENST00000380548.4	+	8	1252	c.913G>C	c.(913-915)Gat>Cat	p.D305H	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.D305H|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.D305H|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.D305H	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	305						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GAGGGAGACGGATTTCTTTCC	0.463000													5	34					0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36024442	36024442	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:36024442G>A	ENST00000222286.4	+	1	129	c.13G>A	c.(13-15)Gac>Aac	p.D5N		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	5					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GTCGAAGCGCGACATCGTCCT	0.627000													20	59					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083292	152083292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:152083292C>A	ENST00000368804.1	-	2	2400	c.2401G>T	c.(2401-2403)Gag>Tag	p.E801*		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	801					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCGCTCCTCGGCCCTCAGC	0.682000													16	95					2.23348e-06	2.36562e-06	1	1	0
KCTD19	146212	broad.mit.edu	37	16	67327463	67327463	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67327463C>T	ENST00000304372.5	-	12	2257	c.2202G>A	c.(2200-2202)caG>caA	p.Q734Q		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	734						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)		CCTTGGTCCTCTGCTTGCTCC	0.532000													36	113					0	0	1	0	0
PRR15L	79170	broad.mit.edu	37	17	46030598	46030598	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:46030598C>T	ENST00000300557.2	-	2	253	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-6N17.9_ENST00000582262.1_RNA	NM_024320.3	NP_077296.1	Q9BU68	PR15L_HUMAN	proline rich 15-like	1										NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						TTTCAGTCGTCATGGCGCTCC	0.547000													61	79					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13670693	13670693	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:13670693C>T	ENST00000404922.3	+	13	2862	c.2743C>T	c.(2743-2745)Cgc>Tgc	p.R915C	FBLN2_ENST00000295760.7_Missense_Mutation_p.R868C|FBLN2_ENST00000535798.1_Missense_Mutation_p.R894C|FBLN2_ENST00000492059.1_Missense_Mutation_p.R915C	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	911	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGGTGTGCACCGCTGCGGTGA	0.652000													12	46					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379239	113379239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:113379239C>G	ENST00000316407.4	-	7	1700	c.1290G>C	c.(1288-1290)caG>caC	p.Q430H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.Q430H	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	430					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCACGTTGTCTGTGTGTTTC	0.413000													16	79					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14958467	14958467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:14958467G>C	ENST00000287667.7	+	13	1592	c.1421G>C	c.(1420-1422)aGa>aCa	p.R474T		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	474						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GCAGAAACCAGAGCAGGGCTG	0.532000													74	212					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183883967	183883967	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:183883967G>T	ENST00000313143.3	+	8	1065	c.817G>T	c.(817-819)Gac>Tac	p.D273Y	DVL3_ENST00000431765.1_Missense_Mutation_p.D273Y|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	273	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGAGCGTGGTGACGGCGGCAT	0.502000													12	109					9.31168e-06	9.79018e-06	1	1	0
SIRT1	23411	broad.mit.edu	37	10	69672284	69672284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:69672284C>T	ENST00000212015.6	+	8	1464	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y	SIRT1_ENST00000406900.1_Missense_Mutation_p.H168Y|SIRT1_ENST00000432464.1_Missense_Mutation_p.H176Y|SIRT1_ENST00000403579.1_Missense_Mutation_p.H168Y	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	471	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ACCTTTGCCTCATCTGCATTT	0.378000													30	33					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160085	38160085	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:38160085G>A	ENST00000358582.4	-	4	1713	c.965C>T	c.(964-966)tCa>tTa	p.S322L	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.S322L	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CATTATGCTTGAAGGCCTTCT	0.378000													64	115					0	0	1	0	0
CD3G	917	broad.mit.edu	37	11	118221328	118221328	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118221328C>T	ENST00000532917.1	+	4	437	c.369C>T	c.(367-369)atC>atT	p.I123I	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Intron	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	123					establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTGCTGAAATCGTCAGCATTT	0.463000													27	103					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158255240	158255240	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:158255240G>C	ENST00000296526.7	+	9	1559	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	GRIA2_ENST00000264426.9_Missense_Mutation_p.E412Q|GRIA2_ENST00000449365.1_Missense_Mutation_p.E365Q|GRIA2_ENST00000393815.2_Missense_Mutation_p.E365Q|GRIA2_ENST00000507898.1_Missense_Mutation_p.E365Q	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	412					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTCTGGGCTTGAGAATAAGAC	0.403000													10	78					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158607885	158607885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158607885C>G	ENST00000368147.4	-	36	5307	c.5127G>C	c.(5125-5127)ttG>ttC	p.L1709F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGCCTCTTTCAATTTTTCGT	0.423000													16	186					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78059852	78059852	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:78059852G>A	ENST00000397545.4	+	14	2313	c.2286G>A	c.(2284-2286)ctG>ctA	p.L762L	CCDC40_ENST00000374877.3_Silent_p.L762L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	762					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGCAAGCTGATCGACGAGC	0.582000													18	83					0	0	1	0	0
CTNNBIP1	56998	broad.mit.edu	37	1	9931317	9931317	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:9931317C>G	ENST00000377263.1	-	5	426	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	CTNNBIP1_ENST00000400904.3_Missense_Mutation_p.E39Q|CTNNBIP1_ENST00000377258.1_Missense_Mutation_p.E39Q|CTNNBIP1_ENST00000377256.1_Missense_Mutation_p.E39Q|CTNNBIP1_ENST00000537447.1_Missense_Mutation_p.E39Q	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	39					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGCAGGAACTCCTCCTCGCTG	0.652000													2	2					0	0	1	0	0
SPDYA	245711	broad.mit.edu	37	2	29052060	29052060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:29052060G>A	ENST00000334056.5	+	6	616	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	SPDYA_ENST00000379579.4_Missense_Mutation_p.E143K|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	143	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AACCAAGTACGAAATTTTTCC	0.373000													11	65					0	0	1	0	0
RYK	6259	broad.mit.edu	37	3	133921684	133921684	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:133921684C>T	ENST00000427044.2	-	7	712	c.102G>A	c.(100-102)acG>acA	p.T34T	RYK_ENST00000296084.4_Silent_p.T224T			P34925	RYK_HUMAN	receptor-like tyrosine kinase	223				PALRAAAAPALLLARCAVAAAAGLRAAAR -> RGLRAPPP PPLLLLLALLPLLPAPGAAAAPA (in Ref. 2).	corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						AAAACACACGCGTAGAAGTGG	0.343000													8	39					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26650797	26650797	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:26650797C>A	ENST00000527815.1	-	17	2010	c.1961G>T	c.(1960-1962)cGg>cTg	p.R654L	AIM1L_ENST00000308182.5_Missense_Mutation_p.R483L	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	483							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAAATAAACCCGGCGCTGGTG	0.637000													4	25					0.00909568	0.00920277	1	1	0
ERCC3	2071	broad.mit.edu	37	2	128018835	128018835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:128018835C>T	ENST00000493187.2	-	13	2304	c.1841G>A	c.(1840-1842)aGa>aAa	p.R614K	ERCC3_ENST00000285398.2_Missense_Mutation_p.R678K			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	678	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACCAAGAATCTCTGCCGCTT	0.463000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	38					0	0	1	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102045915	102045915	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:102045915G>A	ENST00000370372.2	-	2	163	c.111C>T	c.(109-111)atC>atT	p.I37I	BLOC1S2_ENST00000441611.1_5'UTR|BLOC1S2_ENST00000361832.2_5'UTR	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	37					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		AGAGCTCAGTGATGTCAGCTT	0.602000													17	62					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200587334	200587334	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200587334G>C	ENST00000367350.4	-	2	956	c.518C>G	c.(517-519)tCt>tGt	p.S173C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	173	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.S173C(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GGCAACAAAAGAGTTTTTAGC	0.358000													37	75					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150883739	150883739	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:150883739C>G	ENST00000474524.1	+	10	1502	c.1464C>G	c.(1462-1464)ttC>ttG	p.F488L	MED12L_ENST00000422248.2_Missense_Mutation_p.F488L|MED12L_ENST00000309237.4_Missense_Mutation_p.F488L|MED12L_ENST00000273432.4_Missense_Mutation_p.F348L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	488					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAAGATTTTCTGGGCAAACC	0.343000													25	98					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26706399	26706399	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:26706399C>G	ENST00000272371.2	-	13	1449	c.1323G>C	c.(1321-1323)aaG>aaC	p.K441N	OTOF_ENST00000403946.3_Missense_Mutation_p.K441N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	441	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAAGCCTTCTTTACATTGG	0.567000													17	62					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20748583	20748583	+	Translation_Start_Site	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:20748583G>T	ENST00000596797.1	-	0	32				CTC-513N18.7_ENST00000595094.1_lincRNA			C9JHM3	C9JHM3_HUMAN	zinc finger protein 737						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCGGCTGCAGAGACAAAGGC	0.592000													3	26					0.004672	0.0047419	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20996973	20996973	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:20996973C>T	ENST00000261383.3	-	48	7090	c.7091G>A	c.(7090-7092)gGa>gAa	p.G2364E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2364					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAAATAATCTCCAAAGAAGAG	0.433000													42	112					0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161140823	161140823	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161140823G>C	ENST00000367999.4	+	13	1557		c.e13-1		PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Splice_Site|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000352210.5_Splice_Site	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTTCCTTCCAGAGTCAGCTAG	0.517000													35	350					0	0	1	0	0
RNASEH1	246243	broad.mit.edu	37	2	3596688	3596688	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:3596688C>A	ENST00000315212.3	-	5	879	c.524G>T	c.(523-525)aGa>aTa	p.R175I		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	175	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CCCAGGAAGTCTAATGCCTAC	0.328000													28	218					7.38237e-10	8.16113e-10	1	1	0
ASF1B	55723	broad.mit.edu	37	19	14232376	14232376	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232376C>T	ENST00000263382.3	-	3	869	c.370G>A	c.(370-372)Gag>Aag	p.E124K	ASF1B_ENST00000592798.1_Intron|ASF1B_ENST00000474890.1_Missense_Mutation_p.E124K	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	124	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						GGCGGGTTCTCACGCAGCTCA	0.557000													14	81					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121424706	121424706	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:121424706C>T	ENST00000260197.7	+	17	2456	c.2327C>T	c.(2326-2328)tCg>tTg	p.S776L		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	776					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			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)		GACCTGGCCTCGGGAGCCACC	0.567000													47	134					0	0	1	0	0
PALM2	114299	broad.mit.edu	37	9	112705701	112705701	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:112705701T>C	ENST00000448454.2	+	8	1238	c.1238T>C	c.(1237-1239)aTg>aCg	p.M413T	PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.M411T|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.M379T|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.M377T					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						TGTGTTGTCATGTGACCACTT	0.512000													17	81					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184605510	184605510	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:184605510G>A	ENST00000334690.6	+	14	1621	c.1419G>A	c.(1417-1419)ttG>ttA	p.L473L	TRAPPC11_ENST00000512476.1_Silent_p.L79L|TRAPPC11_ENST00000357207.4_Silent_p.L473L	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	473																	CCAAAGCTTTGAAGTGAGTCC	0.303000													23	42					0	0	1	0	0
C11orf84	144097	broad.mit.edu	37	11	63594565	63594565	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:63594565C>A	ENST00000294244.4	+	6	1399	c.1100C>A	c.(1099-1101)tCc>tAc	p.S367Y		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	367										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTGTCAGAATCCAGCACCACT	0.612000													8	33					0.000157383	0.000163076	1	1	0
ZNF681	148213	broad.mit.edu	37	19	23928075	23928075	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:23928075C>G	ENST00000402377.3	-	4	418	c.277G>C	c.(277-279)Gat>Cat	p.D93H	ZNF681_ENST00000395385.3_Missense_Mutation_p.D24H	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGGAAAGAATCTTTTATGTTC	0.328000													3	30					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78433937	78433937	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:78433937C>G	ENST00000278550.7	-	24	4038	c.3576G>C	c.(3574-3576)gaG>gaC	p.E1192D		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CAAACTGGTTCTCCCCATTCC	0.552000													24	33					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104201510	104201510	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104201510C>T	ENST00000202556.9	-	17	3536	c.3254G>A	c.(3253-3255)cGa>cAa	p.R1085Q	PPP1R13B_ENST00000423488.2_3'UTR|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	1085					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGTTCGCTGTCGGGGTTTGAT	0.577000													13	78					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196797300	196797300	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:196797300G>A	ENST00000320493.5	+	4	619	c.531G>A	c.(529-531)agG>agA	p.R177R	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	177	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ATGAATGTAGGAGCCCTTATG	0.393000													19	31					0	0	1	0	0
ZNF688	146542	broad.mit.edu	37	16	30581606	30581606	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30581606G>C	ENST00000223459.6	-	3	1566	c.462C>G	c.(460-462)ccC>ccG	p.P154P	ZNF688_ENST00000395219.1_Silent_p.P140P	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CAGCATTTTTGGGTGGCTGTG	0.647000													9	29					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20177348	20177348	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:20177348G>T	ENST00000245957.5	+	16	1801	c.1725G>T	c.(1723-1725)ctG>ctT	p.L575L	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	575										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGTTCTTTCTGAAGGAGATCC	0.468000													27	47					2.79863e-10	3.10184e-10	1	1	0
CXXC11	285093	broad.mit.edu	37	2	242815144	242815144	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242815144C>T	ENST00000343216.3	+	2	1465	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	479						integral to membrane											TCGCAGTCTTCGATGTCATAA	0.632000													15	73					0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3768990	3768990	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:3768990C>T	ENST00000330055.5	+	1	866	c.657C>T	c.(655-657)ttC>ttT	p.F219F	ADRA2C_ENST00000509482.1_Silent_p.F219F	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	219					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCGGCTCCTTCTTCGCGCCCT	0.697000													5	5					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233986856	233986856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233986856G>A	ENST00000359570.5	+	3	238	c.238G>A	c.(238-240)Gac>Aac	p.D80N	INPP5D_ENST00000538935.1_Missense_Mutation_p.D80N|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	80	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CACCAAGCTGGACCAGCTCAT	0.522000													12	81					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53013953	53013953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:53013953G>A	ENST00000421239.2	+	6	563	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	209					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)		CCAGGAAATTGAAAAAGATAT	0.398000													63	166					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128452893	128452893	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:128452893G>A	ENST00000297788.4	+	14	3040	c.2673G>A	c.(2671-2673)ctG>ctA	p.L891L	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	891						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGAAAGACCTGAAGGAAGAGC	0.532000													9	13					0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49281254	49281254	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:49281254C>G	ENST00000586178.1	-	8	980	c.637G>C	c.(637-639)Gaa>Caa	p.E213Q	MBTD1_ENST00000376381.2_Missense_Mutation_p.E213Q|MBTD1_ENST00000415868.1_Missense_Mutation_p.E213Q	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	213					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGTCATTTTCAAATCCTTCA	0.368000													106	140					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7018251	7018251	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:7018251G>A	ENST00000382040.3	+	1	456	c.320G>A	c.(319-321)aGa>aAa	p.R107K		NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	107					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAGCAAAGAGAGGATTGCTT	0.507000													17	30					0	0	1	0	0
MBNL2	10150	broad.mit.edu	37	13	97986587	97986587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:97986587C>T	ENST00000345429.6	+	3	1013	c.232C>T	c.(232-234)Caa>Taa	p.Q78*	MBNL2_ENST00000445661.2_Nonsense_Mutation_p.Q78*|MBNL2_ENST00000376673.3_Nonsense_Mutation_p.Q78*|MBNL2_ENST00000343600.4_Nonsense_Mutation_p.Q78*|MBNL2_ENST00000397601.1_Nonsense_Mutation_p.Q78*	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	78					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CTTAAAAACTCAACTAGAAAT	0.398000													22	54					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22697070	22697070	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:22697070C>T	ENST00000333957.4	-	2	270	c.15G>A	c.(13-15)ctG>ctA	p.L5L	C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000536386.1_Silent_p.L5L|C2CD5_ENST00000542676.1_Silent_p.L5L|C2CD5_ENST00000545552.1_Silent_p.L5L|C2CD5_ENST00000446597.1_Silent_p.L5L|C2CD5_ENST00000396028.2_Silent_p.L5L	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		TTTTCACCTTCAGCTTCCCTG	0.627000													21	51					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259814	151259814	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151259814C>T	ENST00000368879.2	+	2	1145	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAACTCAGGTCCCCTCAGATC	0.562000													39	60					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139090634	139090634	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139090634C>T	ENST00000371746.3	-	5	772	c.654G>A	c.(652-654)aaG>aaA	p.K218K	LHX3_ENST00000371748.5_Silent_p.K213K	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	213					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TCTTCAGCCTCTTCTCCTTGG	0.721000													7	24					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56345151	56345151	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:56345151C>T	ENST00000526812.2	-	1	112	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTCTGTCAGTCCTAAGAGAAT	0.453000													29	74					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640753	104640753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:104640753G>A	ENST00000304883.2	-	1	220	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	27						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCTAGCGAGGCGGTCAG	0.682000													7	49					0	0	1	0	0
DAP3	7818	broad.mit.edu	37	1	155706776	155706776	+	Missense_Mutation	SNP	G	G	A	rs41264967	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:155706776G>A	ENST00000368336.5	+	12	1157	c.1033G>A	c.(1033-1035)Gtt>Att	p.V345I	DAP3_ENST00000471642.2_Missense_Mutation_p.V304I|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.V311I|DAP3_ENST00000535183.1_Missense_Mutation_p.V304I|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.V345I	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	345					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCCATCCTGGTTTCCAACTA	0.383000													8	172					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58608568	58608568	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58608568G>C	ENST00000317147.5	-	16	2256	c.1924C>G	c.(1924-1926)Caa>Gaa	p.Q642E	CNOT1_ENST00000569240.1_Missense_Mutation_p.Q642E|CNOT1_ENST00000441024.2_Missense_Mutation_p.Q642E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	642					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGAGGAAGTTGAGCACTTTTG	0.433000													14	108					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158663899	158663899	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:158663899G>A	ENST00000407559.3	+	3	294	c.136G>A	c.(136-138)Gag>Aag	p.E46K		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	46										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TAAGGAGTCTGAGATGGACCT	0.547000													8	18					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693438	45693438	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:45693438C>T	ENST00000310806.4	-	11	2810	c.2352G>A	c.(2350-2352)agG>agA	p.R784R		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	784					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTTCAGCTTTCCTTTTAATTT	0.358000													34	48					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466593	74466593	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74466593C>T	ENST00000394019.2	-	21	2585	c.2188G>A	c.(2188-2190)Ggg>Agg	p.G730R	SLC4A5_ENST00000423644.1_Missense_Mutation_p.G730R|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G730R|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G730R|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G666R|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G730R|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G666R|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G730R|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	730						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCAGGCGCCCGCCGTAGCTC	0.537000													32	62					0	0	1	0	0
FAM131A	131408	broad.mit.edu	37	3	184059850	184059850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:184059850C>T	ENST00000310585.4	+	1	1593	c.229C>T	c.(229-231)Cca>Tca	p.P77S	FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000450976.1_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000453072.1_Intron|FAM131A_ENST00000340957.5_Intron|EIF2B5_ENST00000444495.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	77						extracellular region		p.P77S(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCCTATCTCCAGGTATTTC	0.597000													75	177					0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161139803	161139803	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161139803C>G	ENST00000367999.4	+	9	1242	c.976C>G	c.(976-978)Ctg>Gtg	p.L326V	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.L326V	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	326					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGGAGCCCATCTGCCTGTCCA	0.582000													10	58					0	0	1	0	0
EIF1B	10289	broad.mit.edu	37	3	40352532	40352532	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:40352532G>A	ENST00000232905.3	+	2	438	c.180G>A	c.(178-180)gtG>gtA	p.V60V		NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	60					regulation of translational initiation		protein binding|translation initiation factor activity			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AGAAACTTGTGAAAGCTTTCA	0.398000													12	76					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40117264	40117264	+	RNA	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:40117264A>G	ENST00000591658.1	+	0	1653							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CAAGATCAGGAGAAACAGGCA	0.498000													7	24					0	0	1	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964632	15964632	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:15964632C>T	ENST00000259989.6	-	1	227	c.121G>A	c.(121-123)Gat>Aat	p.D41N	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	41						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTGCAGGAATCTCTCCCTCCA	0.582000													15	38					0	0	1	0	0
LMO4	8543	broad.mit.edu	37	1	87797934	87797934	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:87797934G>C	ENST00000370544.5	+	2	1016	c.236G>C	c.(235-237)aGg>aCg	p.R79T	LMO4_ENST00000370542.1_Splice_Site_p.R79T|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	79	LIM zinc-binding 1.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GACTACATTAGGTAAGACTTT	0.537000													18	19					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46603308	46603308	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:46603308C>G	ENST00000539173.1	+	7	1714	c.1279C>G	c.(1279-1281)Cag>Gag	p.Q427E	ADARB1_ENST00000348831.4_Missense_Mutation_p.Q427E|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Missense_Mutation_p.Q427E|ADARB1_ENST00000389863.4_Missense_Mutation_p.Q427E	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	427	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ATCCATCTTTCAGAAATCAGA	0.378000													5	33					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5105215	5105215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5105215G>C	ENST00000396912.1	+	5	2647	c.2128G>C	c.(2128-2130)Gat>Cat	p.D710H	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.D710H	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	710	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAACGTACTTGATGTGGAAAA	0.368000													15	86					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154272068	154272068	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:154272068C>T	ENST00000285873.7	-	25	3714	c.3639G>A	c.(3637-3639)ctG>ctA	p.L1213L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1213					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGTTGGCTCAGCACTGCCA	0.587000													9	40					0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202154187	202154187	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:202154187G>A	ENST00000405148.2	-	14	1647	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y	ALS2CR12_ENST00000286190.5_Missense_Mutation_p.H402Y|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.H379Y|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.H379Y	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	402					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CACTTCAGATGAATGTTCTCT	0.433000													21	67					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48027189	48027189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:48027189C>G	ENST00000234420.5	+	4	2219	c.2067C>G	c.(2065-2067)ttC>ttG	p.F689L	MSH6_ENST00000540021.1_Missense_Mutation_p.F559L|MSH6_ENST00000538136.1_Missense_Mutation_p.F387L|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTGTGTCTTCTACCTCAAAA	0.423000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				54	169					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29528545	29528545	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:29528545C>A	ENST00000373791.3	-	6	810	c.438G>T	c.(436-438)caG>caT	p.Q146H	MECR_ENST00000263702.6_Missense_Mutation_p.Q222H	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	222					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CACTCAGCTTCTGGATATCAG	0.512000													78	217					3.66258e-25	4.219e-25	1	1	0
MFHAS1	9258	broad.mit.edu	37	8	8749873	8749873	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:8749873G>A	ENST00000276282.6	-	1	1282	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	232										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CACTCAGCCAGAGGATCTTGA	0.662000													8	21					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101586104	101586104	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:101586104C>T	ENST00000311812.2	-	14	1462	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	SNX31_ENST00000428383.2_Missense_Mutation_p.E339K	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	438					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CAGAGATCTTCTTCCTTTATG	0.373000													27	229					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7083276	7083276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7083276G>T	ENST00000414706.1	+	8	1287	c.814G>T	c.(814-816)Gag>Tag	p.E272*	ZNF557_ENST00000252840.6_Nonsense_Mutation_p.E272*|ZNF557_ENST00000439035.2_Nonsense_Mutation_p.E265*	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GTGTTTTCGTGAGTTCCGCAC	0.468000													20	80					1.01871e-10	1.13103e-10	1	1	0
PPCS	79717	broad.mit.edu	37	1	42922574	42922574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:42922574C>T	ENST00000372561.3	+	1	345	c.338C>T	c.(337-339)tCg>tTg	p.S113L	PPCS_ENST00000372560.3_Missense_Mutation_p.S113L|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	113					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGCCCTTTCGGGCTTGCTG	0.647000													20	87					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36248961	36248961	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:36248961G>T	ENST00000315571.5	+	5	802	c.781G>T	c.(781-783)Gag>Tag	p.E261*	LDLRAD3_ENST00000524419.1_Nonsense_Mutation_p.E251*|LDLRAD3_ENST00000528989.1_Nonsense_Mutation_p.E212*|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	261						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CTCCTACTCCGAGGCCTTGCT	0.577000													10	97					0.000442599	0.00045714	1	1	0
RRP12	23223	broad.mit.edu	37	10	99125901	99125901	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:99125901C>T	ENST00000370992.4	-	29	3592	c.3481G>A	c.(3481-3483)Gac>Aac	p.D1161N	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.D879N|RRP12_ENST00000414986.1_Missense_Mutation_p.D1100N|RRP12_ENST00000315563.6_Missense_Mutation_p.D1061N	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1161						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTGTTGCCGTCTGCCTCCTCC	0.597000													27	74					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74749805	74749805	+	Nonsense_Mutation	SNP	G	G	C	rs145468372		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74749805G>C	ENST00000404568.3	-	8	1616	c.1397C>G	c.(1396-1398)tCa>tGa	p.S466*	DQX1_ENST00000393951.2_Nonsense_Mutation_p.S466*	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	466						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGGGAATTCTGATAGTATGAC	0.557000													34	200					0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31235662	31235662	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:31235662C>G	ENST00000322122.3	+	7	1304	c.1020C>G	c.(1018-1020)ctC>ctG	p.L340L		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	340	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						ACCAGCAGCTCTCCGAGGGCG	0.761000													5	11					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209964141	209964141	+	Silent	SNP	A	A	G	rs41303263	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:209964141A>G	ENST00000367021.3	-	7	931	c.759T>C	c.(757-759)taT>taC	p.Y253Y	IRF6_ENST00000542854.1_Silent_p.Y158Y	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	253					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCAGGTCCCCATAGAAGAGTC	0.567000										HNSCC(57;0.16)			6	74					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37041503	37041503	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37041503G>A	ENST00000379242.3	+	16	2383	c.2081G>A	c.(2080-2082)tGa>tAa	p.*694*	VIT_ENST00000404084.1_Silent_p.*631*|VIT_ENST00000401530.1_Silent_p.*658*|VIT_ENST00000497382.1_Silent_p.*348*|VIT_ENST00000389975.3_Silent_p.*679*|VIT_ENST00000379241.3_Silent_p.*657*	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	0						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCTCGGAACTGAATTCAGAGC	0.517000													28	37					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99332708	99332708	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99332708G>C	ENST00000336374.2	-	1	11	c.9C>G	c.(7-9)ctC>ctG	p.L3L		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	3					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.L3L(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGTTTGGGATGAGATCCATCA	0.507000													11	63					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70670973	70670973	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:70670973G>C	ENST00000373585.3	+	4	717	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	204	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAGAAATCAAGAAACAATTAA	0.368000													17	83					0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90001759	90001759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:90001759G>A	ENST00000304984.5	+	3	2979	c.684G>A	c.(682-684)atG>atA	p.M228I	TUBB3_ENST00000554444.1_Missense_Mutation_p.M228I|TUBB3_ENST00000315491.7_Missense_Mutation_p.M300I|TUBB3_ENST00000556922.1_Missense_Mutation_p.M647I|TUBB3_ENST00000555576.1_Intron			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	300					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAACATGATGGCCGCCTGCG	0.692000													38	119					0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67377958	67377958	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:67377958G>C	ENST00000322776.6	+	5	770	c.617G>C	c.(616-618)tGt>tCt	p.C206S	NDUFV1_ENST00000415352.2_Missense_Mutation_p.C199S|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Missense_Mutation_p.C197S|NDUFV1_ENST00000532303.1_Missense_Mutation_p.C105S	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	206					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GCCTACATCTGTGGAGAGGAG	0.602000													44	106					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43908528	43908528	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:43908528G>C	ENST00000562955.1	+	58	8019	c.8019G>C	c.(8017-8019)gaG>gaC	p.E2673D	SZT2_ENST00000372442.1_Missense_Mutation_p.E1831D	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2730						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGAAGTGGAGACCCTCATCC	0.612000													25	112					0	0	1	0	0
FAM104B	90736	broad.mit.edu	37	X	55172594	55172594	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:55172594G>A	ENST00000425133.2	-	3	312	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	FAM104B_ENST00000477847.2_Missense_Mutation_p.L88F|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.L90F	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TGGGAGTAAAGACCTTGGCAT	0.483000													17	80					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242157737	242157737	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242157737C>T	ENST00000274979.8	+	21	2527	c.2424C>T	c.(2422-2424)ctC>ctT	p.L808L	ANO7_ENST00000402430.3_Silent_p.L807L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	808						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCGGCTTCCTCAACTTCACGC	0.746000													3	4					0	0	1	0	0
PSMC6	5706	broad.mit.edu	37	14	53178177	53178177	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:53178177G>A	ENST00000445930.2	+	6	424	c.418G>A	c.(418-420)Gac>Aac	p.D140N	PSMC6_ENST00000606149.1_Missense_Mutation_p.D126N			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	126					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	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GTCTCATGAGGACCCTGGGAA	0.393000													48	62					0	0	1	0	0
SDHC	6391	broad.mit.edu	37	1	161298268	161298268	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161298268C>A	ENST00000367975.2	+	3	309	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	SDHC_ENST00000432287.2_Intron|SDHC_ENST00000392169.2_Intron|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000342751.4_Missense_Mutation_p.P54T	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	54					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TCCTCTGTCTCCCCACATTAC	0.443000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				122	75					3.35115e-56	3.88805e-56	1	1	0
SYNM	23336	broad.mit.edu	37	15	99672778	99672778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:99672778C>T	ENST00000336292.6	+	5	4330	c.4210C>T	c.(4210-4212)Cga>Tga	p.R1404*	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1405	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TAGGCACATTCGACTAGGTCC	0.517000													49	172					0	0	1	0	0
LURAP1	541468	broad.mit.edu	37	1	46669164	46669164	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46669164G>C	ENST00000371980.3	+	1	159	c.66G>C	c.(64-66)aaG>aaC	p.K22N	POMGNT1_ENST00000371992.1_Intron|POMGNT1_ENST00000396420.3_Intron	NM_001013615.2	NP_001013633.1	Q96LR2	CA190_HUMAN	leucine rich adaptor protein 1	22					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm											TGGGCAGGAAGACCCCTGAAG	0.692000													7	46					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6675398	6675398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6675398C>A	ENST00000541778.1	-	5	819	c.331G>T	c.(331-333)Gag>Tag	p.E111*	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000322166.5_Nonsense_Mutation_p.E115*|NOP2_ENST00000537442.1_Nonsense_Mutation_p.E115*|NOP2_ENST00000399466.2_Nonsense_Mutation_p.E111*|NOP2_ENST00000545200.1_Nonsense_Mutation_p.E111*|NOP2_ENST00000382421.3_Nonsense_Mutation_p.E115*			P46087	NOP2_HUMAN	NOP2 nucleolar protein	115					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TCCTCCTCCTCTTCCTCATCA	0.562000													11	34					1.33987e-11	1.49532e-11	1	1	0
RDX	5962	broad.mit.edu	37	11	110134918	110134918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:110134918G>C	ENST00000343115.4	-	5	553	c.234C>G	c.(232-234)ttC>ttG	p.F78L	RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.F78L|RDX_ENST00000544551.1_Intron|RDX_ENST00000530301.1_Missense_Mutation_p.F46L|RDX_ENST00000405097.1_Missense_Mutation_p.F78L	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	78	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTCTAAACTTGAACTGTAAAG	0.303000													21	30					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99827554	99827554	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:99827554G>T	ENST00000524871.1	+	8	980	c.690G>T	c.(688-690)tgG>tgT	p.W230C	CNTN5_ENST00000528682.1_Missense_Mutation_p.W230C|CNTN5_ENST00000279463.3_Missense_Mutation_p.W230C|CNTN5_ENST00000527185.1_Missense_Mutation_p.W230C|CNTN5_ENST00000418526.2_Missense_Mutation_p.W156C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	230	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTATAGCTGGGTATTTAATG	0.393000													19	48					8.00594e-06	8.42421e-06	1	1	0
C22orf29	79680	broad.mit.edu	37	22	19839388	19839388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19839388G>A	ENST00000405640.1	-	2	1065	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.Q133*|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.Q133*|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	133										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ATGTTGTCCTGATAGTGCTCA	0.622000													18	88					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13238096	13238096	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:13238096G>C	ENST00000337630.6	-	6	787	c.720C>G	c.(718-720)ttC>ttG	p.F240L	GSG1_ENST00000396302.3_Missense_Mutation_p.Q282E|GSG1_ENST00000457134.2_Missense_Mutation_p.F189L|GSG1_ENST00000432710.2_Missense_Mutation_p.F253L|GSG1_ENST00000396310.2_Missense_Mutation_p.F209L|GSG1_ENST00000324458.8_Missense_Mutation_p.F276L|GSG1_ENST00000537302.1_Missense_Mutation_p.F212L|GSG1_ENST00000351606.6_Missense_Mutation_p.Q318E	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	263						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCTTGCACTTGAACTCCAGCA	0.557000													6	58					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169469046	169469046	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:169469046C>T	ENST00000256935.8	+	38	3866	c.3786C>T	c.(3784-3786)gtC>gtT	p.V1262V	DOCK2_ENST00000520908.1_Silent_p.V754V|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.V323V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1262	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCACAGGTCATGCAGACAG	0.542000													9	8					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746673	158746673	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158746673G>A	ENST00000339258.1	-	1	752	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGCTCCCAAAGAAGATGAGGA	0.458000													9	115					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361151	105361151	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:105361151G>A	ENST00000297581.2	+	2	420	c.371G>A	c.(370-372)gGt>gAt	p.G124D	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.G124D|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	124					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTCCTAGATGGTATGACTTGC	0.418000													28	230					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60575275	60575275	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:60575275C>A	ENST00000252996.4	-	11	2691	c.2692G>T	c.(2692-2694)Gta>Tta	p.V898L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TAACTTACTACATCTGGATGT	0.348000													11	95					6.42651e-13	7.24106e-13	1	1	0
OR10AD1	121275	broad.mit.edu	37	12	48596818	48596818	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48596818G>C	ENST00000310248.2	-	1	352	c.258C>G	c.(256-258)ctC>ctG	p.L86L		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						CCCTGACCACGAGGTGGATCA	0.517000													3	34					0	0	1	0	0
NABP2	79035	broad.mit.edu	37	12	56618691	56618691	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56618691G>T	ENST00000380198.2	+	1	549	c.51G>T	c.(49-51)ctG>ctT	p.L17L	NABP2_ENST00000267023.4_Silent_p.L17L|NABP2_ENST00000341463.5_Silent_p.L17L					nucleic acid binding protein 2																		TCAAGAATCTGAACCTTATCT	0.577000											OREG0021922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	52					8.12818e-05	8.4562e-05	1	1	0
ARSG	22901	broad.mit.edu	37	17	66352862	66352862	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:66352862C>A	ENST00000448504.2	+	6	1417	c.621C>A	c.(619-621)ctC>ctA	p.L207L	ARSG_ENST00000452479.2_Silent_p.L43L|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	207					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGAAAACCTCAACATTGTGG	0.502000													33	46					2.2171e-23	2.5471e-23	1	1	0
PIWIL4	143689	broad.mit.edu	37	11	94328539	94328539	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:94328539C>G	ENST00000299001.6	+	10	1426	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	405					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGACACGTCTCAGTCCTTCAG	0.502000													19	116					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96944839	96944839	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96944839G>A	ENST00000267584.4	+	15	1637	c.1593G>A	c.(1591-1593)ctG>ctA	p.L531L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	531					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGAGTTTCTGAAGGAGCGTG	0.542000													22	164					0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42239247	42239247	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:42239247G>C	ENST00000319977.4	+	10	2128	c.1891G>C	c.(1891-1893)Gat>Cat	p.D631H	C17orf53_ENST00000585683.1_Missense_Mutation_p.D630H|C17orf53_ENST00000245382.6_Missense_Mutation_p.W518C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	631										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGATGACCTGGATGGACTCCT	0.547000													18	98					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42410099	42410099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:42410099G>A	ENST00000599846.1	+	27	2706	c.2581G>A	c.(2581-2583)Gag>Aag	p.E861K	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E772K|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E787K|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E820K|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E805K			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	805					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGCCCGGACCGAGAGAATCCT	0.672000													21	67					0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540603	5540603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5540603C>T	ENST00000382368.3	-	3	1420	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	FBXL18_ENST00000453700.3_Missense_Mutation_p.D433N	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	433									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ggcgcgcggtcggcgcgcggc	0.741000													5	11					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83839159	83839159	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:83839159C>G	ENST00000349129.2	+	16	2533	c.2273C>G	c.(2272-2274)tCa>tGa	p.S758*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S739*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S749*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	758					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTAGAGTGCTCAAGTTTCCCA	0.393000													35	57					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59479190	59479190	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:59479190G>A	ENST00000240328.3	+	2	822	c.541G>A	c.(541-543)Gag>Aag	p.E181K	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	181					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						GGCCGACCCTGAGATGCCCAA	0.577000													9	130					0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54627903	54627903	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:54627903C>G	ENST00000321030.4	+	8	1072	c.723C>G	c.(721-723)ctC>ctG	p.L241L	AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Silent_p.L241L|PRPF31_ENST00000391755.1_Silent_p.L241L|PRPF31_ENST00000498612.1_3'UTR	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	241	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGACCAACCTCTCCAAGATGC	0.647000													12	101					0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155090019	155090019	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:155090019C>T	ENST00000340368.4	+	2	235	c.24C>T	c.(22-24)ttC>ttT	p.F8F	INSIG1_ENST00000344756.4_Silent_p.F8F|INSIG1_ENST00000342407.5_Silent_p.F8F	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	8					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACGACCACTTCTGGAGCTGCT	0.642000													5	11					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154076593	154076593	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:154076593G>A	ENST00000368559.3	-	13	1785	c.1714C>T	c.(1714-1716)Cac>Tac	p.H572Y	NUP210L_ENST00000271854.3_Missense_Mutation_p.H572Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	572						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTATTTATGTGATACATTGCA	0.388000													20	126					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72414059	72414059	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:72414059G>C	ENST00000395270.1	+	14	3773	c.2732G>C	c.(2731-2733)gGa>gCa	p.G911A	POM121_ENST00000434423.2_Missense_Mutation_p.G1176A|POM121_ENST00000358357.3_Missense_Mutation_p.G911A|POM121_ENST00000257622.4_Missense_Mutation_p.G911A|POM121_ENST00000446813.1_Missense_Mutation_p.G911A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1176	Pore side (Potential).|Thr-rich.				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)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCTGTGTTTGGAGGTAAGGAG	0.602000													5	20					0	0	1	0	0
UBE2J1	51465	broad.mit.edu	37	6	90052151	90052151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:90052151G>T	ENST00000435041.2	-	3	407	c.129C>A	c.(127-129)ttC>ttA	p.F43L		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	43						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CTCTAACCGTGAAGTGCCATT	0.378000													12	39					5.50884e-06	5.80612e-06	1	1	0
EPS15L1	58513	broad.mit.edu	37	19	16528407	16528407	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16528407C>T	ENST00000602009.1	-	6	1582	c.687G>A	c.(685-687)gtG>gtA	p.V229V	EPS15L1_ENST00000535753.2_Silent_p.V383V|EPS15L1_ENST00000594975.1_Silent_p.V383V|EPS15L1_ENST00000597937.1_Silent_p.V383V|EPS15L1_ENST00000248070.6_Silent_p.V383V|EPS15L1_ENST00000455140.2_Silent_p.V383V			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	383					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CAAGCTCCTTCACGCCAGTAA	0.502000											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	40					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57484238	57484238	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:57484238G>A	ENST00000371100.4	+	7	3033	c.2481G>A	c.(2479-2481)gtG>gtA	p.V827V	GNAS_ENST00000371085.3_Silent_p.V184V|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Silent_p.V185V|GNAS_ENST00000265620.7_Silent_p.V169V|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Silent_p.V170V|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Silent_p.V170V|GNAS_ENST00000371102.4_Silent_p.V813V	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	184					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.V184V(1)|p.V827V(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGATCGACGTGATCAAGCAGG	0.507000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			58	249					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41312446	41312446	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:41312446G>A	ENST00000551295.2	+	4	217	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CNTN1_ENST00000547702.1_Missense_Mutation_p.E34K|CNTN1_ENST00000360099.3_Missense_Mutation_p.E34K|CNTN1_ENST00000348761.2_Missense_Mutation_p.E23K|CNTN1_ENST00000547849.1_Missense_Mutation_p.E34K|CNTN1_ENST00000347616.1_Missense_Mutation_p.E34K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	34					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTAGTTTCTGAGGAAGACAA	0.323000													7	40					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2942120	2942120	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:2942120C>A	ENST00000381130.2	+	6	960	c.960C>A	c.(958-960)ttC>ttA	p.F320L		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	320						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGTGTACTTCACCTCTGACA	0.577000													11	48					7.03913e-09	7.68935e-09	1	1	0
CENPF	1063	broad.mit.edu	37	1	214813365	214813365	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:214813365G>C	ENST00000366955.3	+	12	1852	c.1684G>C	c.(1684-1686)Gat>Cat	p.D562H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	562					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGCTGTGGCTGATCTGGAAAA	0.363000													39	146					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100071729	100071729	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:100071729A>C	ENST00000375202.2	+	17	1587	c.235A>C	c.(235-237)Aag>Cag	p.K79Q	CCDC180_ENST00000357054.1_Missense_Mutation_p.K218Q|CCDC180_ENST00000529487.1_Missense_Mutation_p.K79Q|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.K218Q|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.K79Q					coiled-coil domain containing 180																		GGCCACCAGGAAGCGGGCTGC	0.602000													9	48					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647712	20647712	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:20647712G>C	ENST00000272233.4	+	1	878	c.486G>C	c.(484-486)aaG>aaC	p.K162N		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	162					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GCTCTGCCAAGACCAAGGAAG	0.667000													19	126					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21899343	21899343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:21899343G>A	ENST00000399982.2	-	1	524	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	CHD8_ENST00000557364.1_Nonsense_Mutation_p.Q154*|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	154					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGGCTGACTGAGGTGGCTGC	0.562000													10	6					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42399472	42399472	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:42399472C>T	ENST00000599846.1	+	12	1053	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R277W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R292W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R325W|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R310W			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	310					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GATGCCCTCTCGGGACCGGAA	0.607000													50	103					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53608349	53608349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53608349C>T	ENST00000425354.2	-	6	1004	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	RARG_ENST00000327550.3_Missense_Mutation_p.E101K|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.E173K|RARG_ENST00000338561.5_Missense_Mutation_p.E162K|RARG_ENST00000543726.1_Missense_Mutation_p.E151K	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	173	Hinge.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GACCCTTCTTCCTTCACCTCT	0.557000													10	23					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72739323	72739323	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:72739323G>A	ENST00000340415.3	+	4	1290	c.281G>A	c.(280-282)aGa>aAa	p.R94K	RAB37_ENST00000528438.1_Missense_Mutation_p.R74K|RAB37_ENST00000392615.5_Missense_Mutation_p.R69K|RAB37_ENST00000392612.3_Missense_Mutation_p.R64K|RAB37_ENST00000392614.4_Missense_Mutation_p.R106K|RAB37_ENST00000392610.1_Missense_Mutation_p.R101K|RAB37_ENST00000402449.4_Missense_Mutation_p.R94K|RAB37_ENST00000392613.5_Missense_Mutation_p.R101K	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	101					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GCTTATTACAGAGATGCTCAG	0.602000													71	116					0	0	1	0	0
NAPA	8775	broad.mit.edu	37	19	47991562	47991562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:47991562C>T	ENST00000263354.3	-	11	1170	c.871G>A	c.(871-873)Gag>Aag	p.E291K	NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Missense_Mutation_p.E252K	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	291					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		AGGTCCTCCTCATCGCCCTGG	0.632000													17	70					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97489422	97489422	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:97489422G>A	ENST00000544166.1	+	0	562				KLHL32_ENST00000369261.4_Missense_Mutation_p.G87S|KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000536676.1_Intron			Q96NJ5	KLH32_HUMAN	kelch-like family member 32											breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TAATTTGCACGGTGTGACCAG	0.428000													10	91					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78130748	78130748	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:78130748C>G	ENST00000535157.1	+	3	231	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	SCEL_ENST00000349847.3_Missense_Mutation_p.Q21E|SCEL_ENST00000377246.3_Missense_Mutation_p.Q21E	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	21					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAGCACCACTCAGGGAACCAC	0.433000													42	260					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11900229	11900229	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11900229C>T	ENST00000346436.6	+	23	2611	c.2559C>T	c.(2557-2559)ctC>ctT	p.L853L	CLCN6_ENST00000376487.3_Silent_p.L831L|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	853	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGCACAACCTCACCTATGAAT	0.587000													39	88					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117679988	117679988	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117679988C>T	ENST00000276204.6	+	6	541	c.467C>T	c.(466-468)tCa>tTa	p.S156L	DOCK11_ENST00000276202.7_Missense_Mutation_p.S156L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	156					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTTCAGGACTCATCTTCTTTA	0.408000													23	63					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18913260	18913260	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:18913260C>T	ENST00000379942.4	-	31	3997	c.3332G>A	c.(3331-3333)cGa>cAa	p.R1111Q	PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1111			R -> RTR (in GSD9A; type 2).		glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R1111Q(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCGTACCTCTCGGGTCGTCGA	0.532000													45	131					0	0	1	0	0
MRPL53	116540	broad.mit.edu	37	2	74699709	74699709	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74699709C>G	ENST00000258105.7	-	1	740	c.79G>C	c.(79-81)Gtg>Ctg	p.V27L	MRPL53_ENST00000409710.1_Missense_Mutation_p.V27L	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	27						mitochondrion|ribosome				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						GTCGATTCCACGTTTTTCTCG	0.592000													13	80					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186151338	186151338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:186151338G>A	ENST00000271588.4	+	105	16562	c.16333G>A	c.(16333-16335)Gag>Aag	p.E5445K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E5328K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5445	EGF-like 7; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGCCAGCATGAGTGTAAGAA	0.423000													41	81					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80040026	80040026	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80040026C>T	ENST00000306749.2	-	36	6240	c.6022G>A	c.(6022-6024)Gag>Aag	p.E2008K	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2008	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGCACGCCTCTCGGGTCACC	0.627000													9	42					0	0	1	0	0
RNF4	6047	broad.mit.edu	37	4	2514856	2514856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:2514856G>A	ENST00000511600.1	+	7	1936	c.421G>A	c.(421-423)Gag>Aag	p.E141K	RNF4_ENST00000511859.1_Silent_p.Q87Q|RNF4_ENST00000314289.8_Missense_Mutation_p.E141K|RNF4_ENST00000541204.1_Missense_Mutation_p.E141K|RNF4_ENST00000506706.1_Missense_Mutation_p.E141K			P78317	RNF4_HUMAN	ring finger protein 4	141					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				CGGATACTCAGAGGTAAGTAA	0.458000													13	230					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137213275	137213275	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137213275C>G	ENST00000239926.4	+	4	972	c.598C>G	c.(598-600)Caa>Gaa	p.Q200E	MYOT_ENST00000421631.2_Missense_Mutation_p.Q16E|MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000515645.1_Missense_Mutation_p.Q85E|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	200					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTGTGTTTCAAGCTCAGGA	0.388000													13	50					0	0	1	0	0
TMEM189	387521	broad.mit.edu	37	20	48699389	48699389	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:48699389G>A	ENST00000557021.1	-	8	1189	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V	TMEM189-UBE2V1_ENST00000341698.2_Silent_p.V343V|UBE2V1_ENST00000371674.3_Silent_p.V120V|UBE2V1_ENST00000415862.2_Silent_p.V76V|UBE2V1_ENST00000371657.5_Silent_p.V78V|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000371677.3_Silent_p.V143V|UBE2V1_ENST00000420027.2_Silent_p.V76V|UBE2V1_ENST00000340309.3_Silent_p.V143V	NM_199203.2	NP_954673			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			GCTCTTGCAGGACAACTTTGA	0.418000													18	73					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83127893	83127893	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:83127893G>A	ENST00000329312.4	+	4	214		c.e4-1			NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1						cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AATCTTTTCAGAGACATGACA	0.294000													4	16					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288606	107288606	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:107288606G>A	ENST00000277216.3	-	1	884	c.885C>T	c.(883-885)atC>atT	p.I295I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCAAGCTATAGATTATGGGGT	0.403000													14	76					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009116	120009116	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:120009116G>A	ENST00000371311.3	-	1	663	c.409C>T	c.(409-411)Cac>Tac	p.H137Y		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	137										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TGGTCGTTGTGATAGAGGCGG	0.652000													10	59					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123118351	123118351	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:123118351G>C	ENST00000264501.4	+	13	1583	c.1210G>C	c.(1210-1212)Gaa>Caa	p.E404Q	KIAA1109_ENST00000388738.3_Splice_Site_p.E404Q|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Splice_Site_p.E404Q			Q2LD37	K1109_HUMAN	KIAA1109	404					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTTTGGTAGGAAACAAATGC	0.259000													16	49					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117826296	117826296	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:117826296G>A	ENST00000350763.4	-	12	3950	c.3539C>T	c.(3538-3540)gCc>gTc	p.A1180V	TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1180V|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.A1180V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1180	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGTTTGAGGGCATCCCAGCC	0.522000													45	152					0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73686631	73686631	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:73686631C>T	ENST00000310473.3	-	7	1562	c.720G>A	c.(718-720)acG>acA	p.T240T	UCP2_ENST00000536983.1_Intron	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	240					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					TCATGTATCTCGTCTTGACCA	0.592000													31	101					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45268728	45268728	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:45268728C>T	ENST00000372201.4	+	7	1090	c.851C>T	c.(850-852)tCa>tTa	p.S284L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	284	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCCAGCCTCTCACTGCCTGCC	0.627000													21	64					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16459790	16459790	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:16459790C>G	ENST00000358432.5	-	11	2092	c.1938G>C	c.(1936-1938)aaG>aaC	p.K646N		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	646	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTTTCAGCGTCTTGATGGCCA	0.607000													9	84					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51092923	51092923	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:51092923G>C	ENST00000395542.2	-	14	4081	c.3897C>G	c.(3895-3897)ctC>ctG	p.L1299L	COBL_ENST00000265136.7_Silent_p.L1217L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1217										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)					TTGGTGCAGAGAGAGCCTGGG	0.642000													11	34					0	0	1	0	0
SH2D5	400745	broad.mit.edu	37	1	21048338	21048338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:21048338G>A	ENST00000375031.1	-	9	1591	c.967C>T	c.(967-969)Ctc>Ttc	p.L323F	SH2D5_ENST00000444387.2_Missense_Mutation_p.L407F|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	323										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGGGCCGGAGAGTCCGGGGC	0.701000													5	22					0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105927222	105927222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:105927222G>C	ENST00000331320.7	+	10	1088	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	MTA1_ENST00000405646.1_Missense_Mutation_p.E275Q|MTA1_ENST00000406191.1_Missense_Mutation_p.E292Q	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	292	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTCTGCATCAGAGGCCAACCT	0.577000													17	51					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053121	15053121	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:15053121C>T	ENST00000248072.3	+	1	821	c.821C>T	c.(820-822)tCg>tTg	p.S274L		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CTGGCAGCCTCGGTGATGTAC	0.557000													27	95					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4535233	4535233	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:4535233G>C	ENST00000570836.1	-	14	1856	c.1760C>G	c.(1759-1761)tCt>tGt	p.S587C	ALOX15_ENST00000545513.1_Missense_Mutation_p.S609C|ALOX15_ENST00000574640.1_Missense_Mutation_p.S548C|ALOX15_ENST00000293761.3_Missense_Mutation_p.S587C			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	587	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CATCTGGAGAGAAGCCTGGTG	0.622000													8	50					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66466202	66466202	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66466202C>T	ENST00000533211.1	-	20	4253	c.3922G>A	c.(3922-3924)Gag>Aag	p.E1308K	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1308K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1308K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1308					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTGCGGGCCTCGTCATAGGAC	0.562000													12	69					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516055	195516055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:195516055G>T	ENST00000463781.3	-	2	2855	c.2396C>A	c.(2395-2397)tCa>tAa	p.S799*	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S799*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	804	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGCCCGCTGAGGTGGTTCG	0.587000													12	123					2.32078e-09	2.54812e-09	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89346347	89346347	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89346347T>C	ENST00000301030.4	-	9	7063	c.6603A>G	c.(6601-6603)gcA>gcG	p.A2201A	ANKRD11_ENST00000378330.2_Silent_p.A2201A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2201	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCTCGAGCTCTGCAGGGAGCC	0.687000													4	19					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48750880	48750880	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48750880C>T	ENST00000285238.8	+	19	2540	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	820	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGACAGACTTCATCATTGTGC	0.607000													8	79					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16103752	16103752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:16103752C>G	ENST00000399408.2	+	3	520	c.345C>G	c.(343-345)atC>atG	p.I115M	ABCC1_ENST00000349029.5_Missense_Mutation_p.I115M|ABCC1_ENST00000345148.5_Missense_Mutation_p.I115M|ABCC1_ENST00000399410.3_Missense_Mutation_p.I115M|ABCC1_ENST00000346370.5_Missense_Mutation_p.I115M|ABCC1_ENST00000351154.5_Missense_Mutation_p.I115M			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	115					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCTTGGGCATCACCATGGTAA	0.507000													19	75					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847774	28847774	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:28847774C>T	ENST00000395547.2	+	23	3434	c.3267C>T	c.(3265-3267)ctC>ctT	p.L1089L	ATXN2L_ENST00000382686.4_Intron|ATXN2L_ENST00000336783.4_3'UTR|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Intron|ATXN2L_ENST00000564304.1_Intron|ATXN2L_ENST00000325215.6_Intron|ATXN2L_ENST00000340394.8_Intron	NM_148414.2	NP_680780.1	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	0						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCCAGCTCTCAGTGACCCCG	0.657000													7	37					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990162	39990162	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:39990162G>C	ENST00000332312.3	-	4	2239	c.2047C>G	c.(2047-2049)Cag>Gag	p.Q683E		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	683						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)				ACTGTGTGCTGAAGTTTCTGG	0.657000													5	24					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86905100	86905100	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:86905100C>T	ENST00000376238.4	-	11	1167	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G304E	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	373					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						TAGCACGCTTCCAGCAATGGT	0.428000													14	61					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25466165	25466165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:25466165G>A	ENST00000329474.6	+	9	1047	c.679G>A	c.(679-681)Gat>Aat	p.D227N	LRRC16A_ENST00000377969.3_Missense_Mutation_p.D66N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	227					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTCCTCTAAGGATCTAAAACT	0.363000													17	91					0	0	1	0	0
CD37	951	broad.mit.edu	37	19	49842010	49842010	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49842010G>A	ENST00000535669.2	+	6	615	c.501G>A	c.(499-501)ctG>ctA	p.L167L	CD37_ENST00000598095.1_Silent_p.L99L|CD37_ENST00000426897.2_Silent_p.L99L|CD37_ENST00000323906.4_Silent_p.L167L|CTC-301O7.4_ENST00000358234.4_lincRNA			P11049	CD37_HUMAN	CD37 molecule	167						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		TCCTCATCCTGAGAGGTAACG	0.607000													19	108					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112020527	112020527	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:112020527C>G	ENST00000374566.3	-	7	1199	c.682G>C	c.(682-684)Gag>Cag	p.E228Q	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.E228Q	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	228	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACCGAAACTCAGACACAAGC	0.443000													10	61					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17083787	17083787	+	RNA	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:17083787G>A	ENST00000455405.2	-	0	801																											GCGTGAAGACGGCTGGCCAGC	0.552000													3	24					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134942263	134942263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:134942263G>A	ENST00000607359.1	+	16	3088	c.3088G>A	c.(3088-3090)Gag>Aag	p.E1030K	GPR123_ENST00000392606.2_Missense_Mutation_p.E214K|GPR123_ENST00000392607.3_Missense_Mutation_p.E311K			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGCCAAGCGTGAGGACGTGTG	0.692000													9	18					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941053	52941053	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52941053C>G	ENST00000371544.3	-	13	2440	c.2178G>C	c.(2176-2178)gaG>gaC	p.E726D	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E726D	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	726					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTTCCCCTTCTCTCTTTTCT	0.398000													40	116					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594200	140594200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:140594200G>A	ENST00000341948.4	+	1	692	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		169	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACAATATTGAGAACTATAT	0.478000													37	53					0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2090035	2090035	+	Nonsense_Mutation	SNP	C	C	A	rs71716587		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2090035C>A	ENST00000219066.1	-	6	847	c.829G>T	c.(829-831)Gag>Tag	p.E277*	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	277					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CCATTGATCTCGTGCCACAGC	0.662000								Base excision repair (BER), DNA glycosylases					28	71					1.16021e-09	1.2804e-09	1	1	0
DOK7	285489	broad.mit.edu	37	4	3465126	3465126	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:3465126G>A	ENST00000340083.5	+	1	89	c.24G>A	c.(22-24)gaG>gaA	p.E8E	DOK7_ENST00000389653.2_Silent_p.E8E|DOK7_ENST00000507039.1_Silent_p.E8E	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	8	PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCTGGTGGAGGGCCAGGTCA	0.761000													2	3					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89922055	89922055	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89922055C>T	ENST00000378247.3	+	6	982	c.939C>T	c.(937-939)ctC>ctT	p.L313L	SPIRE2_ENST00000393062.2_Silent_p.L313L	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	313					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CTCACGAGCTCATCCTGGACT	0.667000													17	39					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008292	11008292	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11008292T>C	ENST00000377004.4	-	12	1899	c.1900A>G	c.(1900-1902)Agg>Ggg	p.R634G	C1orf127_ENST00000377008.4_Missense_Mutation_p.R467G	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	485										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCCCCCTCCCTGGGGAGACCA	0.637000													21	76					0	0	1	0	0
RGS16	6004	broad.mit.edu	37	1	182572430	182572430	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:182572430G>A	ENST00000367558.5	-	2	237	c.89C>T	c.(88-90)tCa>tTa	p.S30L		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	30					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GCCCAGCTCTGATTTGTGAAG	0.488000													49	63					0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57608778	57608778	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:57608778C>T	ENST00000340339.4	+	11	1783	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.G420G	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	420					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TGGGCTACGGCGGCCTCACGT	0.701000													8	57					0	0	1	0	0
STRADA	92335	broad.mit.edu	37	17	61787958	61787958	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:61787958G>A	ENST00000245865.5	-	7	509	c.300C>T	c.(298-300)ctC>ctT	p.L100L	STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000582137.1_Silent_p.L129L|STRADA_ENST00000579340.1_Silent_p.L100L|STRADA_ENST00000375840.4_Silent_p.L100L|STRADA_ENST00000447001.3_Silent_p.L114L|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000392950.4_Silent_p.L121L|STRADA_ENST00000336174.6_Silent_p.L158L			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	158	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GTGTACAGATGAGATCTTTTG	0.493000													29	128					0	0	1	0	0
CCNE2	9134	broad.mit.edu	37	8	95902660	95902660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:95902660G>C	ENST00000520509.1	-	6	688	c.436C>G	c.(436-438)Cta>Gta	p.L146V	CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.L146V|CCNE2_ENST00000396133.3_Missense_Mutation_p.L146V			O96020	CCNE2_HUMAN	cyclin E2	146					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					AGCCAGTCTAGAAGTATGGAC	0.363000													78	143					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37347815	37347815	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:37347815G>C	ENST00000394303.3	-	3	410	c.203C>G	c.(202-204)tCa>tGa	p.S68*	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Nonsense_Mutation_p.S68*|CACNB1_ENST00000344140.5_Nonsense_Mutation_p.S68*	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	68					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATCAGAGTCTGATGGACGGCT	0.587000													23	38					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183086694	183086694	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:183086694G>C	ENST00000258341.4	+	10	1970	c.1713G>C	c.(1711-1713)ttG>ttC	p.L571F		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	571	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCAGGTGTTGAGTTATGGTC	0.502000													12	68					0	0	1	0	0
EIF2B2	8892	broad.mit.edu	37	14	75470262	75470262	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75470262G>A	ENST00000266126.5	+	3	373	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	98				RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002).	cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		AGACTCCATGGACGCAGCGAC	0.537000													44	49					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231472148	231472148	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:231472148G>A	ENST00000366645.1	-	1	1450	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	EXOC8_ENST00000360394.2_Silent_p.I448I			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	448					exocytosis|protein transport	growth cone|nucleus	protein binding	p.I448M(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGGCACCTTCGATGCGAAGCT	0.488000													15	67					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452282	138452282	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:138452282C>T	ENST00000344876.4	-	1	1347	c.961G>A	c.(961-963)Gag>Aag	p.E321K	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E101K|PCDH18_ENST00000412923.2_Missense_Mutation_p.E321K|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	321	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACATCAATCTCATAGGATTTG	0.343000													10	58					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43739643	43739643	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:43739643G>A	ENST00000263801.3	-	13	2994	c.2742C>T	c.(2740-2742)atC>atT	p.I914I	TP53BP1_ENST00000450115.2_Silent_p.I919I|TP53BP1_ENST00000382039.3_Silent_p.I919I|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Silent_p.I919I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	914					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATGGTGGGATGATATCACCTT	0.343000								Other conserved DNA damage response genes					32	59					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442003	145442003	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:145442003G>T	ENST00000511217.1	+	9	1981	c.1929G>T	c.(1927-1929)gtG>gtT	p.V643V	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.V643V			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	643	Interaction with PPP1CA.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAAAACCGTGAGATTTCAGA	0.522000													22	113					1.10513e-12	1.24412e-12	1	1	0
MICALL1	85377	broad.mit.edu	37	22	38323678	38323678	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:38323678C>G	ENST00000215957.6	+	9	1852	c.1726C>G	c.(1726-1728)Caa>Gaa	p.Q576E	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	576	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACAAATGCCTCAAGCCAGCCC	0.642000													24	130					0	0	1	0	0
GPT	2875	broad.mit.edu	37	8	145729780	145729780	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145729780G>A	ENST00000394955.2	+	1	316	c.93G>A	c.(91-93)cgG>cgA	p.R31R	GPT_ENST00000528431.1_Silent_p.R31R	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	31					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGCGTGTGCGGAGAGTGGAGT	0.672000													5	22					0	0	1	0	0
CCL13	6357	broad.mit.edu	37	17	32685093	32685093	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:32685093G>C	ENST00000225844.2	+	3	315	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	80					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				CAAAGGAGAAGTGGGTCCAGA	0.493000													19	33					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50832018	50832018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:50832018G>A	ENST00000442544.2	+	13	2598	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q	DCC_ENST00000581580.1_Missense_Mutation_p.R316Q|DCC_ENST00000412726.1_Missense_Mutation_p.R509Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	661	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATAAAATTCGACACAGAAAG	0.423000													20	55					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114226264	114226264	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:114226264C>G	ENST00000307546.9	+	21	4149	c.4074C>G	c.(4072-4074)atC>atG	p.I1358M	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1383					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAAAAAATCAAAAGAATGG	0.368000													4	22					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7968896	7968896	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7968896G>A	ENST00000545011.1	+	1	132	c.67G>A	c.(67-69)Gag>Aag	p.E23K	MAP2K7_ENST00000397983.3_Missense_Mutation_p.E23K|MAP2K7_ENST00000397979.3_Missense_Mutation_p.E23K|MAP2K7_ENST00000397981.3_Missense_Mutation_p.E23K			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	23					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like 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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GGAGAACCGGGAGGCCCGGCG	0.741000													6	7					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27233641	27233641	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:27233641G>C	ENST00000429845.2	-	27	2746	c.2384C>G	c.(2383-2385)tCt>tGt	p.S795C	NEK10_ENST00000383770.3_Missense_Mutation_p.S107C|NEK10_ENST00000295720.6_Missense_Mutation_p.S107C|NEK10_ENST00000383771.4_Missense_Mutation_p.S107C|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Missense_Mutation_p.S192C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	795							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGGGATGTAGATAAGTTGTC	0.433000													29	69					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24535867	24535867	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:24535867T>C	ENST00000264463.4	-	4	1098	c.591A>G	c.(589-591)agA>agG	p.R197R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	197	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTAAATGACTCTGGCGCTGT	0.443000										HNSCC(23;0.051)			9	86					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61548506	61548506	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61548506C>G	ENST00000278836.5	+	20	2657	c.2561C>G	c.(2560-2562)tCt>tGt	p.S854C	MYRF_ENST00000389602.4_Missense_Mutation_p.S245C|MYRF_ENST00000265460.5_Missense_Mutation_p.S819C|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		ATACAGCCCTCTTTGCTGCTG	0.617000													10	44					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211279	59211279	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:59211279C>T	ENST00000302030.2	+	1	663	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S213L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GGAGGAACATCGTTCCTCCAA	0.542000													39	215					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512984	61512984	+	Missense_Mutation	SNP	C	C	G	rs142722598		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:61512984C>G	ENST00000266070.4	-	16	4649	c.4324G>C	c.(4324-4326)Gat>Cat	p.D1442H	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1442H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1442					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)					GGCAGGTCATCAACAGTCACT	0.627000													46	92					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55570029	55570029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55570029C>T	ENST00000288135.5	+	5	993	c.896C>T	c.(895-897)gCa>gTa	p.A299V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	299	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGGATCAGCAAATGTCACA	0.358000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				17	103					0	0	1	0	0
METTL5	29081	broad.mit.edu	37	2	170669018	170669018	+	Splice_Site	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:170669018T>C	ENST00000410097.1	-	7	677		c.e7-2		METTL5_ENST00000308099.3_Splice_Site|METTL5_ENST00000409965.1_Splice_Site|METTL5_ENST00000409340.1_Splice_Site|METTL5_ENST00000392640.2_Splice_Site|METTL5_ENST00000260953.5_Splice_Site|METTL5_ENST00000409837.1_Splice_Site			Q9NRN9	METL5_HUMAN	methyltransferase like 5								methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						ATCGAAGTTCTGTAAAACAAA	0.358000													34	64					0	0	1	0	0
YIPF1	54432	broad.mit.edu	37	1	54348950	54348950	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:54348950C>T	ENST00000072644.1	-	4	368		c.e4-1		YIPF1_ENST00000469457.1_Intron|YIPF1_ENST00000539954.1_Splice_Site|YIPF1_ENST00000371399.1_Splice_Site	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1							integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TTGCCAAATTCTGAAATCAAT	0.453000													7	34					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152642938	152642938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:152642938G>A	ENST00000367255.5	-	83	16602	c.16001C>T	c.(16000-16002)tCt>tTt	p.S5334F	SYNE1_ENST00000423061.1_Missense_Mutation_p.S5263F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5007F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S5263F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S5334F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5334					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.S5334Y(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACATTTCACAGAATTGATCTG	0.398000										HNSCC(10;0.0054)			24	77					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62402467	62402467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:62402467G>C	ENST00000346178.4	-	5	401	c.386C>G	c.(385-387)tCt>tGt	p.S129C	GANAB_ENST00000356638.3_Missense_Mutation_p.S129C|GANAB_ENST00000540933.1_Missense_Mutation_p.S32C|GANAB_ENST00000534779.1_Missense_Mutation_p.S15C|GANAB_ENST00000534422.1_5'UTR	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	129					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						ACCAGAGACAGAAAGCCTGGG	0.463000													16	76					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52882123	52882123	+	Silent	SNP	A	A	G	rs1132960		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:52882123A>G	ENST00000330722.6	-	7	1481	c.1413T>C	c.(1411-1413)ggT>ggC	p.G471G		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	471	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCACTCCTCACCCTCCAGCA	0.577000													18	101					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37516589	37516589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37516589C>G	ENST00000379066.1	-	5	1389	c.627G>C	c.(625-627)aaG>aaC	p.K209N	PRKD3_ENST00000234179.2_Missense_Mutation_p.K209N			O94806	KPCD3_HUMAN	protein kinase D3	209					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ACAGACGTCTCTTTCTTACTC	0.403000													32	70					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771918	100771918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100771918C>T	ENST00000223095.4	+	2	401	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	SERPINE1_ENST00000445463.2_Nonsense_Mutation_p.Q67*	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	82					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCAGCAGATTCAAGCAGCTAT	0.577000													8	57					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3979971	3979971	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3979971C>A	ENST00000309311.6	-	10	1528	c.1440G>T	c.(1438-1440)gtG>gtT	p.V480V		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	480						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCGTCTTCACCAGGAACT	0.592000													7	29					0.00198382	0.00202306	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73179451	73179451	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:73179451C>G	ENST00000286657.4	-	12	1724	c.1688G>C	c.(1687-1689)tGt>tCt	p.C563S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	563	TSP type-1 1.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTCCGAGAACAGGAGCCAAA	0.423000													21	43					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39726897	39726897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:39726897G>A	ENST00000395670.3	-	19	2919	c.2500C>T	c.(2500-2502)Cgt>Tgt	p.R834C	KIF21A_ENST00000361961.3_Missense_Mutation_p.R821C|KIF21A_ENST00000361418.5_Missense_Mutation_p.R834C|KIF21A_ENST00000544797.2_Missense_Mutation_p.R821C|KIF21A_ENST00000541463.2_Missense_Mutation_p.R798C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	834					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ACTTGCCGACGAAGAGCCGTA	0.448000													49	93					0	0	1	0	0
TTC23L	153657	broad.mit.edu	37	5	34867123	34867123	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:34867123G>A	ENST00000505624.1	+	7	892	c.789G>A	c.(787-789)caG>caA	p.Q263Q	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	263							binding	p.Q263Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AAGCTGCTCAGATAGAGCAGC	0.547000													5	18					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794775	7794775	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7794775C>G	ENST00000328853.5	-	8	743	c.675G>C	c.(673-675)ctG>ctC	p.L225L		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	225	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GCACAGCCCTCAGGCCCAGCC	0.647000													9	53					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38323565	38323565	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:38323565C>G	ENST00000215957.6	+	9	1739	c.1613C>G	c.(1612-1614)tCa>tGa	p.S538*	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	538	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AAGAGCTCCTCAGAGCCTGCT	0.637000													14	69					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1374391	1374391	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:1374391G>A	ENST00000359786.5	-	21	2510	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	MYO1C_ENST00000575158.1_Missense_Mutation_p.A694V|MYO1C_ENST00000545534.2_Missense_Mutation_p.A705V|MYO1C_ENST00000361007.2_Missense_Mutation_p.A694V|MYO1C_ENST00000438665.2_Missense_Mutation_p.A710V	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	729					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)		GACCTCCAGGGCATCCTCTGT	0.632000													12	32					0	0	1	0	0
MTERF	7978	broad.mit.edu	37	7	91503796	91503796	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:91503796C>T	ENST00000419292.1	-	2	328	c.252G>A	c.(250-252)gaG>gaA	p.E84E	MTERF_ENST00000406735.2_Silent_p.E84E|MTERF_ENST00000351870.3_Silent_p.E104E			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	104					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TCAGGTCCTGCTCATTGGTAA	0.418000													24	119					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39433440	39433440	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:39433440A>G	ENST00000280481.7	+	14	7448	c.7232A>G	c.(7231-7233)tAt>tGt	p.Y2411C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2411					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACCCCAAATATTCAGACTAC	0.483000													33	119					0	0	1	0	0
COA6	388753	broad.mit.edu	37	1	234509422	234509422	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:234509422G>C	ENST00000366615.4	+	1	221	c.210G>C	c.(208-210)gaG>gaC	p.E70D		NM_001206641.1	NP_001193570.1			cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		GGCGGGCAGAGAGGTCGGCTT	0.687000													28	115					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123179197	123179197	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:123179197C>A	ENST00000371160.1	+	8	936	c.646C>A	c.(646-648)Cga>Aga	p.R216R	STAG2_ENST00000354548.5_Silent_p.R147R|STAG2_ENST00000371157.3_Silent_p.R216R|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Silent_p.R216R|STAG2_ENST00000218089.9_Silent_p.R216R|STAG2_ENST00000371144.3_Silent_p.R216R	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	216					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGAGCATTTCGACATACAAG	0.343000													83	139					2.16136e-38	2.50313e-38	1	1	0
SOD1	6647	broad.mit.edu	37	21	33039654	33039654	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:33039654C>G	ENST00000270142.6	+	4	471	c.323C>G	c.(322-324)tCa>tGa	p.S108*	SOD1_ENST00000389995.4_Nonsense_Mutation_p.S89*|SOD1_ENST00000470944.1_3'UTR	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	108					activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)	4						ATCTCACTCTCAGGAGACCAT	0.403000													9	81					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55968171	55968171	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55968171C>T	ENST00000263923.4	-	15	2454	c.2159G>A	c.(2158-2160)cGg>cAg	p.R720Q		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	720	Ig-like C2-type 7.				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)	AGTGAGGTTCCGGTTCCCATC	0.438000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			18	95					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134381829	134381829	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:134381829G>C	ENST00000423007.1	+	4	711	c.269G>C	c.(268-270)aGa>aCa	p.R90T	POMT1_ENST00000354713.4_Missense_Mutation_p.Q54H|POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000419118.2_5'UTR|POMT1_ENST00000541219.1_Missense_Mutation_p.E8Q|POMT1_ENST00000402686.3_Missense_Mutation_p.R90T|POMT1_ENST00000372228.3_Missense_Mutation_p.R90T|POMT1_ENST00000341012.7_Missense_Mutation_p.R36T	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	90					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGTGGAACAGAATTGGAGCA	0.353000													37	146					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39751995	39751995	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:39751995G>C	ENST00000395670.3	-	8	1619	c.1200C>G	c.(1198-1200)ctC>ctG	p.L400L	KIF21A_ENST00000361961.3_Silent_p.L400L|KIF21A_ENST00000361418.5_Silent_p.L400L|KIF21A_ENST00000544797.2_Silent_p.L400L|KIF21A_ENST00000541463.2_Silent_p.L400L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	400					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTACTCCATGAGCTCCATCT	0.398000													35	206					0	0	1	0	0
NME5	8382	broad.mit.edu	37	5	137474391	137474391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137474391C>T	ENST00000265191.2	-	2	128	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	27					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding	p.E27Q(1)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCTCCTCCTCTTTGTCAACA	0.378000													18	30					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4643350	4643350	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:4643350C>T	ENST00000261250.3	-	3	384	c.297G>A	c.(295-297)gcG>gcA	p.A99A	C12orf4_ENST00000545746.1_Silent_p.A99A	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	99										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)		CCCATGTACTCGCCAGCTGAT	0.393000													32	55					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33245727	33245727	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:33245727C>A	ENST00000373477.4	-	11	2201	c.1293G>T	c.(1291-1293)atG>atT	p.M431I	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	431	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CGACTCCTCTCATCTTCTGGG	0.577000													22	140					0.00152264	0.00155645	1	1	0
CEL	1056	broad.mit.edu	37	9	135940563	135940563	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:135940563C>T	ENST00000372080.4	+	4	502	c.486C>T	c.(484-486)gtC>gtT	p.V162V	CEL_ENST00000351304.7_Silent_p.V159V	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	159					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCATCGTGGTCACCTTCAACT	0.642000													42	201					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27943318	27943318	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27943318G>A	ENST00000345068.5	-	9	1254	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000456796.3_Silent_p.I113I|CORO6_ENST00000388767.3_Silent_p.I347I|CORO6_ENST00000580212.1_Silent_p.I307I|CORO6_ENST00000445145.2_Silent_p.I347I|CORO6_ENST00000584969.1_Silent_p.I347I|CORO6_ENST00000577909.1_5'UTR			Q6QEF8	CORO6_HUMAN	coronin 6	347					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CAGTCATGATGATAGGTTCAC	0.572000													3	17					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44374146	44374146	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:44374146C>T	ENST00000371477.3	+	7	1144	c.845C>T	c.(844-846)aCt>aTt	p.T282I		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	282	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTCTTCAAACTAGTGGTGTT	0.318000													29	122					0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48619216	48619216	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48619216C>T	ENST00000268933.3	+	10	2176	c.1597C>T	c.(1597-1599)Ccg>Tcg	p.P533S	EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.P561S	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	533	3 X 3 AA repeats of N-P-F.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCTCAGCGCTCCGTCCCCCAC	0.692000													8	34					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27589796	27589796	+	Missense_Mutation	SNP	G	G	T	rs145468921	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27589796G>T	ENST00000493344.2	-	10	1396	c.1084C>A	c.(1084-1086)Ctg>Atg	p.L362M	EIF2B4_ENST00000347454.4_Missense_Mutation_p.L341M|EIF2B4_ENST00000451130.2_Missense_Mutation_p.L361M|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000445933.2_Missense_Mutation_p.L340M			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	341					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGATACCAGAGATGAGCTA	0.502000													37	271					6.61955e-31	7.6457e-31	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196834710	196834710	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:196834710G>C	ENST00000312428.6	-	17	2267	c.2167C>G	c.(2167-2169)Caa>Gaa	p.Q723E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	723	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCAGTATTTGAGCCTTTTTT	0.328000													7	57					0	0	1	0	0
PQLC3	130814	broad.mit.edu	37	2	11295764	11295764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:11295764C>T	ENST00000295083.3	+	1	267	c.92C>T	c.(91-93)gCg>gTg	p.A31V	PQLC3_ENST00000402361.1_Missense_Mutation_p.A31V|PQLC3_ENST00000441908.2_Missense_Mutation_p.A31V|PQLC3_ENST00000476787.1_3'UTR	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	31						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GTGCTAGCGGCGCGCAGCGCG	0.721000													3	3					0	0	1	0	0
C19orf52	90580	broad.mit.edu	37	19	11040315	11040315	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11040315G>T	ENST00000270502.6	+	2	810	c.720G>T	c.(718-720)gaG>gaT	p.E240D		NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	240										prostate(1)	1						TGCAGAAGGAGAAGAAGGACA	0.632000													14	17					3.27435e-08	3.54081e-08	1	1	0
CACNA1I	8911	broad.mit.edu	37	22	40058011	40058011	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:40058011C>T	ENST00000336649.4	+	20	2961	c.2961C>T	c.(2959-2961)agC>agT	p.S987S	CACNA1I_ENST00000400164.3_Silent_p.S946S|CACNA1I_ENST00000407673.1_Silent_p.S946S|CACNA1I_ENST00000401624.1_Silent_p.S981S|CACNA1I_ENST00000404898.1_Silent_p.S946S|CACNA1I_ENST00000402142.3_Silent_p.S981S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	981					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGGGCCGCAGCGCGGCCTGGG	0.721000													3	4					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155149435	155149435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:155149435G>A	ENST00000392451.2	+	4	780	c.697G>A	c.(697-699)Gag>Aag	p.E233K	TRIM46_ENST00000368383.3_Missense_Mutation_p.E233K|TRIM46_ENST00000543729.1_Missense_Mutation_p.E240K|TRIM46_ENST00000545012.1_Missense_Mutation_p.E107K|TRIM46_ENST00000368385.4_Missense_Mutation_p.E233K|TRIM46_ENST00000334634.4_Missense_Mutation_p.E233K|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.E210K|RP11-201K10.3_ENST00000473363.2_Intron			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	233						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCACAAGGAAGAGGTGACCCA	0.557000											OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	93					0	0	1	0	0
NT5C3A	51251	broad.mit.edu	37	7	33057059	33057059	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:33057059C>T	ENST00000396152.2	-	8	885	c.583G>A	c.(583-585)Gat>Aat	p.D195N	NT5C3A_ENST00000381626.2_Missense_Mutation_p.D183N|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000242210.7_Missense_Mutation_p.D234N|NT5C3A_ENST00000409467.1_Missense_Mutation_p.D183N|NT5C3A_ENST00000610140.1_Missense_Mutation_p.D229N|NT5C3A_ENST00000405342.1_Missense_Mutation_p.D195N|NT5C3A_ENST00000409787.1_Missense_Mutation_p.D195N	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		ACAGTTTCATCAAAATCCATA	0.284000													13	50					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48179309	48179309	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48179309C>T	ENST00000599515.1	+	1	604	c.393C>T	c.(391-393)ctC>ctT	p.L131L	HDAC7_ENST00000427332.2_Intron|HDAC7_ENST00000354334.3_Intron|HDAC7_ENST00000080059.7_Intron|HDAC7_ENST00000380610.4_Intron|HDAC7_ENST00000552960.1_Intron																							AGGCCCAGCTCACTCCCACCC	0.567000													12	32					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145059118	145059118	+	Missense_Mutation	SNP	G	G	C	rs148128554		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145059118G>C	ENST00000313028.7	-	5	1146	c.1052C>G	c.(1051-1053)tCg>tGg	p.S351W	PARP10_ENST00000524918.1_Missense_Mutation_p.S351W|PARP10_ENST00000525773.1_Missense_Mutation_p.S363W	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	351						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGGCATCGAGCTGACTTG	0.627000													15	126					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917701	54917701	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:54917701C>G	ENST00000293373.6	+	20	2196	c.2117C>G	c.(2116-2118)tCt>tGt	p.S706C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S656C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	706					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATCTTCCCTTCTGAGTACCTC	0.448000													9	67					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27831832	27831832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:27831832G>A	ENST00000396319.2	+	9	1334	c.1246G>A	c.(1246-1248)Gct>Act	p.A416T	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A416T|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A416T|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A259T|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A416T	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	416	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TAAACTAAATGCTATGAAAAA	0.353000													7	24					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005024	187005024	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:187005024G>C	ENST00000296795.3	+	4	2288	c.2184G>C	c.(2182-2184)tgG>tgC	p.W728C	TLR3_ENST00000504367.1_Missense_Mutation_p.W451C	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGAGGGCTGGAGGATATCTT	0.358000													78	132					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53995335	53995335	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:53995335A>G	ENST00000396403.4	+	4	1977	c.1849A>G	c.(1849-1851)Aat>Gat	p.N617D	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAAAGCTTTTAATTGAAAAGC	0.373000													7	30					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100963836	100963836	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:100963836G>A	ENST00000375066.5	-	11	2473	c.2382C>T	c.(2380-2382)ctC>ctT	p.L794L	TBC1D2_ENST00000342112.5_Silent_p.L576L|TBC1D2_ENST00000375064.1_Silent_p.L794L|TBC1D2_ENST00000375063.1_Silent_p.L334L	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	794	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAAGACCACGAGGAACCAGT	0.612000													14	65					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183503990	183503990	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:183503990C>T	ENST00000305135.5	+	20	3009	c.2814C>T	c.(2812-2814)ctC>ctT	p.L938L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	938					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTCACAGCTCTCGAAGCCTG	0.547000													30	54					0	0	1	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442536	22442536	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:22442536G>C	ENST00000265810.4	+	4	437	c.322G>C	c.(322-324)Gtg>Ctg	p.V108L	PDLIM2_ENST00000308354.7_Missense_Mutation_p.V358L|PDLIM2_ENST00000409141.1_Missense_Mutation_p.V108L|PDLIM2_ENST00000397761.2_Missense_Mutation_p.V108L|PDLIM2_ENST00000397760.4_Missense_Mutation_p.V108L|PDLIM2_ENST00000409417.1_Missense_Mutation_p.V108L|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000339162.7_Missense_Mutation_p.V108L	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	108						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		ACAGGGCTCCGTGAGGACATA	0.637000													5	101					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65687479	65687479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:65687479C>T	ENST00000352385.2	-	8	1738	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	510	Fibronectin type-III 1.					integral to membrane|plasma membrane				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						GCGGCTGGCTCCCAGCTGGGA	0.567000													9	28					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53881144	53881144	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53881144G>A	ENST00000267079.2	-	2	257	c.32C>T	c.(31-33)tCt>tTt	p.S11F	MAP3K12_ENST00000547488.1_Missense_Mutation_p.S11F|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.S11F	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	11					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AAAGGAAGGAGAGGGTGTTCG	0.597000													26	47					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59878667	59878667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:59878667C>T	ENST00000259008.2	-	8	1354	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	BRIP1_ENST00000577598.1_Missense_Mutation_p.D363N	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	363	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AATATGATGTCAGCATCTTGT	0.408000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					41	360					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103341574	103341574	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:103341574G>A	ENST00000520539.1	-	10	1758	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	UBR5_ENST00000521922.1_Silent_p.V378V|UBR5_ENST00000220959.4_Silent_p.V384V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	384					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)			CTTTACTGCTGACAGCCAGAA	0.333000													62	692					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166908450	166908450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:166908450G>C	ENST00000423058.2	-	6	760	c.743C>G	c.(742-744)tCa>tGa	p.S248*	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.S248*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.S248*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.S248*|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	248						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATTACATCTGAGAGCTTCTT	0.423000													17	76					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61869914	61869914	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:61869914G>C	ENST00000578681.1	+	4	965	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	DDX42_ENST00000457800.2_Missense_Mutation_p.E122Q|DDX42_ENST00000389924.2_Missense_Mutation_p.E122Q|DDX42_ENST00000583590.1_Missense_Mutation_p.E122Q|DDX42_ENST00000359353.5_Missense_Mutation_p.E3Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	122					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ATTCATGGCTGAAGTGGAGGC	0.373000													30	262					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50570907	50570907	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:50570907G>C	ENST00000547825.1	-	5	2583	c.1314C>G	c.(1312-1314)ctC>ctG	p.L438L	LIMA1_ENST00000552823.1_Silent_p.L580L|LIMA1_ENST00000394943.3_Silent_p.L741L|LIMA1_ENST00000341247.4_Silent_p.L740L|LIMA1_ENST00000552783.1_Silent_p.L581L|LIMA1_ENST00000552491.1_Silent_p.L437L|LIMA1_ENST00000552909.1_Silent_p.L579L	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	740	LIM zinc-binding.				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						CTTCCACAGAGAGCTCTTTGA	0.423000													60	274					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561680	44561680	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:44561680C>T	ENST00000289547.4	-	11	2854	c.2799G>A	c.(2797-2799)aaG>aaA	p.K933K	NPC1L1_ENST00000381160.3_Silent_p.K933K|NPC1L1_ENST00000546276.1_Silent_p.K887K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	933					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CATACTGGATCTTCTGGGTGA	0.562000													9	56					0	0	1	0	0
RNH1	6050	broad.mit.edu	37	11	498609	498609	+	Silent	SNP	G	G	A	rs139771148	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:498609G>A	ENST00000534797.1	-	6	2211	c.804C>T	c.(802-804)atC>atT	p.I268I	RNH1_ENST00000397604.3_Silent_p.I268I|RNH1_ENST00000354420.2_Silent_p.I268I|RNH1_ENST00000397615.2_Silent_p.I268I|RNH1_ENST00000397614.1_Silent_p.I268I|RNH1_ENST00000356187.5_Silent_p.I268I|RNH1_ENST00000438658.2_Silent_p.I268I|RNH1_ENST00000533410.1_Silent_p.I268I			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	268					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGGCAGTGATGCCACACT	0.647000													34	45					0	0	1	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359457	103359457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:103359457G>T	ENST00000537356.3	+	2	2069	c.655G>T	c.(655-657)Gaa>Taa	p.E219*	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18								nucleic acid binding|zinc ion binding										GATAAGGGAGGAAGAGGATTG	0.502000													4	33					0.00909568	0.00920277	1	1	0
LONP2	83752	broad.mit.edu	37	16	48286111	48286111	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:48286111G>A	ENST00000285737.4	+	2	396	c.303G>A	c.(301-303)ttG>ttA	p.L101L	LONP2_ENST00000535754.1_Silent_p.L101L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	101	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACACTCTGTTGATTACAGGCC	0.488000													7	54					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64064956	64064956	+	Silent	SNP	G	G	A	rs2232415	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:64064956G>A	ENST00000539216.1	+	4	852	c.492G>A	c.(490-492)ccG>ccA	p.P164P	KCNK4_ENST00000394525.2_Silent_p.P164P|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Intron|KCNK4_ENST00000539651.1_Intron|KCNK4_ENST00000422670.2_Silent_p.P164P			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	164						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						ACGTGCCACCGGAGCTAGTAA	0.607000													5	105					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22157765	22157765	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:22157765G>A	ENST00000374695.3	-	84	11584	c.11505C>T	c.(11503-11505)ctC>ctT	p.L3835L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3835	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCGTGAGGTTGAGGTCATGGA	0.687000													11	73					0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636229	44636229	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:44636229G>C	ENST00000262894.6	+	5	1742	c.1462G>C	c.(1462-1464)Gaa>Caa	p.E488Q	ZNF225_ENST00000590612.1_Missense_Mutation_p.E488Q|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TAAATGTGAAGAATGTGGGAA	0.393000													27	83					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124298139	124298139	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:124298139C>A	ENST00000409039.3	+	19	3244	c.3219C>A	c.(3217-3219)ctC>ctA	p.L1073L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1073	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAAACTTCTCAATGAGTCAG	0.428000													12	51					1.08611e-07	1.17056e-07	1	1	0
MGA	23269	broad.mit.edu	37	15	42046722	42046722	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42046722C>T	ENST00000219905.7	+	18	7277	c.7096C>T	c.(7096-7098)Cac>Tac	p.H2366Y	MGA_ENST00000545763.1_Missense_Mutation_p.H2157Y|MGA_ENST00000566586.1_Missense_Mutation_p.H2157Y|MGA_ENST00000570161.1_Missense_Mutation_p.H2366Y|MGA_ENST00000389936.4_Missense_Mutation_p.H2327Y	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2327						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAATGTTGCTCACCTGAAGAC	0.398000													3	4					0	0	1	0	0
CCND3	896	broad.mit.edu	37	6	41908692	41908692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:41908692G>A	ENST00000372987.4	-	1	565	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	CCND3_ENST00000372991.4_Intron|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000372988.4_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511642.1_Intron|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000511686.1_Intron			P30281	CCND3_HUMAN	cyclin D3	241					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCACACACCCGAGGGGAAGGG	0.677000			T	IGH@	MM								17	77					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14190071	14190071	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:14190071G>A	ENST00000285021.7	-	13	2625	c.2411C>T	c.(2410-2412)tCc>tTc	p.S804F	XPC_ENST00000449060.2_Missense_Mutation_p.S767F	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	804	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACGGGATGGGAGTAGCCGCC	0.612000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	54					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26818799	26818799	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26818799C>T	ENST00000444914.3	+	6	1374	c.954C>T	c.(952-954)ttC>ttT	p.F318F	SLC13A2_ENST00000314669.5_Silent_p.F269F|SLC13A2_ENST00000537681.1_Silent_p.F198F|SLC13A2_ENST00000545060.1_Silent_p.F226F	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	269						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.F269F(2)|p.F318F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGTTCAGCTTCGCCTTCCCCA	0.582000													9	77					0	0	1	0	0
FBXO41	150726	broad.mit.edu	37	2	73487572	73487572	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73487572C>A	ENST00000521871.1	-	11	2809	c.2394G>T	c.(2392-2394)gaG>gaT	p.E798D	FBXO41_ENST00000295133.5_Missense_Mutation_p.E859D|FBXO41_ENST00000520530.2_Missense_Mutation_p.E798D			Q8TF61	FBX41_HUMAN	F-box protein 41	798						intracellular	protein binding|zinc ion binding	p.E422E(1)|p.E798E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCACCAGCATCTCCAGTCCCT	0.617000													3	17					6.4e-05	6.67443e-05	1	1	0
TANC1	85461	broad.mit.edu	37	2	160042372	160042372	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:160042372G>C	ENST00000263635.6	+	15	2818	c.2581G>C	c.(2581-2583)Gag>Cag	p.E861Q	TANC1_ENST00000454300.1_Missense_Mutation_p.E755Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	861						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCAGACCATGGAGCTTGGCCA	0.522000													7	23					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80377757	80377757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80377757G>A	ENST00000337014.6	+	2	556	c.82G>A	c.(82-84)Gag>Aag	p.E28K	HEXDC_ENST00000577944.1_Missense_Mutation_p.E28K|HEXDC_ENST00000327949.9_Missense_Mutation_p.E28K	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	28					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTACCTCTCAGAGGTAAGGAC	0.418000													16	27					0	0	1	0	0
SEPT11	55752	broad.mit.edu	37	4	77941663	77941663	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77941663G>A	ENST00000264893.6	+	7	994	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	SEPT11_ENST00000505788.1_Missense_Mutation_p.E265K|SEPT11_ENST00000510515.1_Missense_Mutation_p.E275K|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000502584.1_Missense_Mutation_p.E265K|SEPT11_ENST00000541121.1_Missense_Mutation_p.E275K	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	265					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGTTGAGAATGAAAATCATTG	0.458000													13	93					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70347433	70347433	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:70347433G>T	ENST00000558939.1	-	15	2919	c.1542C>A	c.(1540-1542)atC>atA	p.I514I	TLE3_ENST00000559048.1_Silent_p.I514I|TLE3_ENST00000557907.1_Silent_p.I506I|TLE3_ENST00000560939.1_Silent_p.I516I|TLE3_ENST00000559191.1_Silent_p.I95I|TLE3_ENST00000451782.2_Silent_p.I511I|TLE3_ENST00000560589.1_Silent_p.I458I|TLE3_ENST00000317509.8_Silent_p.I502I|TLE3_ENST00000440567.3_Silent_p.I504I|TLE3_ENST00000442299.2_Silent_p.I506I|TLE3_ENST00000558379.1_Silent_p.I509I|TLE3_ENST00000558201.1_Silent_p.I520I|TLE3_ENST00000557997.1_Silent_p.I506I|TLE3_ENST00000539550.1_Silent_p.I441I|TLE3_ENST00000559929.1_Silent_p.I524I	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	514					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGGCTGGCTGATGTCCCAGA	0.642000													6	17					0.00116845	0.00119534	1	1	0
SPAG8	26206	broad.mit.edu	37	9	35811936	35811936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:35811936G>A	ENST00000340291.2	-	2	231	c.107C>T	c.(106-108)tCa>tTa	p.S36L	SPAG8_ENST00000484764.1_Missense_Mutation_p.S34L|SPAG8_ENST00000396638.2_Missense_Mutation_p.S36L	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	36						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGTCATCTGAAGAAGGAAA	0.572000													10	37					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148687015	148687015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:148687015G>C	ENST00000296721.4	+	7	684	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Missense_Mutation_p.E196Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	196	Poly-Glu.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGAAGAGGAGGAGGAAGG	0.587000													15	86					0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73282415	73282415	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73282415C>A	ENST00000402418.3	-	2	1167	c.258G>T	c.(256-258)caG>caT	p.Q86H	SLC25A19_ENST00000320362.3_Missense_Mutation_p.Q86H|SLC25A19_ENST00000375261.4_Missense_Mutation_p.Q86H|SLC25A19_ENST00000442286.2_Missense_Mutation_p.Q86H|SLC25A19_ENST00000416858.2_Missense_Mutation_p.Q86H|SLC25A19_ENST00000580994.1_Missense_Mutation_p.Q86H			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	86						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TGGAGAGAATCTGAGCTGGGA	0.592000													24	153					1.96895e-08	2.13814e-08	1	1	0
JUN	3725	broad.mit.edu	37	1	59248200	59248200	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:59248200C>T	ENST00000371222.2	-	1	1585	c.543G>A	c.(541-543)ctG>ctA	p.L181L		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	181					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|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|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	CGCCGCTGCTCAGCGCGCCTG	0.746000			A		sarcoma								3	5					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9321515	9321515	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:9321515G>C	ENST00000261336.2	-	17	2085	c.2057C>G	c.(2056-2058)tCa>tGa	p.S686*	PZP_ENST00000381997.2_Nonsense_Mutation_p.S555*	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGGGATGACTGAACACGACTT	0.368000													12	84					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124153062	124153062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:124153062G>A	ENST00000287380.1	+	18	2651	c.2561G>A	c.(2560-2562)aGa>aAa	p.R854K	TBC1D31_ENST00000522420.1_Missense_Mutation_p.R749K|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R854K|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R823K|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R731K|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R408K	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		GATGCCTATAGACGAAAAGTG	0.338000													20	101					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732788	30732788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30732788C>T	ENST00000262518.4	+	21	3917	c.3532C>T	c.(3532-3534)Cgc>Tgc	p.R1178C	SRCAP_ENST00000395059.2_Missense_Mutation_p.R1178C|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1178	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TATGCAGGCTCGCCTGCCCTG	0.577000													8	51					0	0	1	0	0
MVB12A	93343	broad.mit.edu	37	19	17531000	17531000	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:17531000C>T	ENST00000317040.7	+	1	1111	c.56C>T	c.(55-57)tCg>tTg	p.S19L	MVB12A_ENST00000543795.1_Missense_Mutation_p.S19L|MVB12A_ENST00000392702.2_Missense_Mutation_p.S19L|MVB12A_ENST00000529939.1_Missense_Mutation_p.S19L|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000528515.1_Missense_Mutation_p.S19L					multivesicular body subunit 12A																		GCCTGGTCGTCGGCCTCTGCA	0.766000													3	8					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89867416	89867416	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:89867416C>A	ENST00000268124.5	-	11	2325	c.1992G>T	c.(1990-1992)ggG>ggT	p.G664G	POLG_ENST00000442287.2_Silent_p.G664G	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	664					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTGCTGCTTCCCCTGTTCGA	0.602000								DNA polymerases (catalytic subunits)					8	52					0.000157383	0.000163076	1	1	0
GDF10	2662	broad.mit.edu	37	10	48429210	48429210	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:48429210C>A	ENST00000224605.2	-	2	941	c.676G>T	c.(676-678)Gat>Tat	p.D226Y		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	226					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TCCTCAGAATCCAGCTGGGCG	0.697000													3	12					1	1	1	1	0
C2orf70	339778	broad.mit.edu	37	2	26800472	26800472	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:26800472A>T	ENST00000329615.3	+	3	468	c.437A>T	c.(436-438)gAa>gTa	p.E146V	C2orf70_ENST00000409392.1_Silent_p.G133G	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	146										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						AGGGAGCCGGAACGGTACCCC	0.597000											OREG0014506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	52					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450129	110450129	+	Missense_Mutation	SNP	C	C	T	rs148304862	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:110450129C>T	ENST00000260283.4	-	16	3825	c.3541G>A	c.(3541-3543)Gac>Aac	p.D1181N	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D1158N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D1155N|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D724N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D1145N|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D1155N|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D1145N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1181					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTCAATGTCGCAGACCACT	0.448000													23	125					0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329747	8329747	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:8329747C>G	ENST00000359286.4	+	5	560	c.471C>G	c.(469-471)ttC>ttG	p.F157L		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		GTAATCTTTTCTCCCCTAAAC	0.373000													43	227					0	0	1	0	0
RP11-480I12.5	0	broad.mit.edu	37	1	202828155	202828155	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202828155C>T	ENST00000443294.1	-	0	236																											ATGTCGTGCTCCAGGCAGTAC	0.602000													5	7					0	0	1	0	0
UTS2R	2837	broad.mit.edu	37	17	80332454	80332454	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80332454C>A	ENST00000313135.2	+	1	302	c.254C>A	c.(253-255)tCc>tAc	p.S85Y		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	85						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GCGGTGGCCTCCATGTACGTC	0.652000													4	11					0.150653	0.151476	1	1	0
SLC37A2	219855	broad.mit.edu	37	11	124933296	124933296	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:124933296C>T	ENST00000403796.2	+	1	334	c.33C>T	c.(31-33)ttC>ttT	p.F11F	SLC37A2_ENST00000298280.5_Silent_p.F11F|SLC37A2_ENST00000308074.4_Silent_p.F11F|SLC37A2_ENST00000407458.1_Silent_p.F11F	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	11					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GAGTCTGGTTCTTCCGGGCCT	0.711000													5	12					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22291646	22291646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:22291646G>A	ENST00000263026.5	+	17	2491	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	673					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CAGGGAGGCCGAGATGCTGTT	0.637000													9	44					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30087570	30087570	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:30087570G>A	ENST00000449726.1	+	4	786	c.436G>A	c.(436-438)Gag>Aag	p.E146K	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.E146K|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.E146K|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.E146K	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	146					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GTCCAATTCTGAGGtaaaata	0.284000													14	40					0	0	1	0	0
TPRKB	51002	broad.mit.edu	37	2	73957849	73957849	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73957849C>G	ENST00000318190.7	-	5	516	c.396G>C	c.(394-396)ttG>ttC	p.L132F	TPRKB_ENST00000409716.2_Missense_Mutation_p.L132F|TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000272424.5_Missense_Mutation_p.L93F			Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	93					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						CAAATTTTTTCAAAGCCTCTG	0.308000													9	59					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142764616	142764616	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:142764616C>T	ENST00000367609.3	+	25	4118	c.3717C>T	c.(3715-3717)atC>atT	p.I1239I	GPR126_ENST00000296932.8_3'UTR|GPR126_ENST00000367608.2_Silent_p.I1211I|GPR126_ENST00000230173.6_3'UTR	NM_198569.2	NP_940971	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAAATATTATCATGTCAGACA	0.363000													20	70					0	0	1	0	0
IAH1	285148	broad.mit.edu	37	2	9628347	9628347	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:9628347C>T	ENST00000470914.1	+	5	613	c.297C>T	c.(295-297)ctC>ctT	p.L99L	IAH1_ENST00000545602.1_Silent_p.L99L|IAH1_ENST00000497473.1_Silent_p.L212L|IAH1_ENST00000482918.1_Silent_p.L99L|IAH1_ENST00000489468.1_3'UTR			Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	212					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCGCATCTCTGGCCTTTGA	0.428000													12	79					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567593	45567593	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:45567593C>T	ENST00000256692.5	-	0	1092					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGCCTTCCTCCCAGAGGCAT	0.403000													79	114					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223983917	223983917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:223983917G>T	ENST00000391878.2	-	14	2705	c.1937C>A	c.(1936-1938)tCa>tAa	p.S646*	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Nonsense_Mutation_p.S775*|TP53BP2_ENST00000391879.2_Nonsense_Mutation_p.S8*	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	769					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GGATGGGTATGATGGGACAGA	0.478000													25	126					6.12954e-19	6.9982e-19	1	1	0
CASKIN1	57524	broad.mit.edu	37	16	2237188	2237188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2237188C>A	ENST00000343516.6	-	8	906	c.814G>T	c.(814-816)Gag>Tag	p.E272*		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	272					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCTTGATCTCCCTGCTGGCC	0.667000													14	53					1.5842e-08	1.72178e-08	1	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123182069	123182069	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:123182069G>C	ENST00000349780.4	-	27	4353	c.4174C>G	c.(4174-4176)Caa>Gaa	p.Q1392E	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.Q1392E|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.Q1351E|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.Q1360E	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1392					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGCTTACCTTGAGAAAAACTG	0.373000													16	96					0	0	1	0	0
XRCC3	7517	broad.mit.edu	37	14	104165273	104165273	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104165273G>T	ENST00000553264.1	-	8	1699	c.903C>A	c.(901-903)ctC>ctA	p.L301L	KLC1_ENST00000334553.6_Intron|XRCC3_ENST00000555055.1_Silent_p.L301L|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000557450.1_Intron|XRCC3_ENST00000554974.1_Silent_p.L96L|KLC1_ENST00000554280.1_Intron|XRCC3_ENST00000445556.1_Silent_p.L301L|KLC1_ENST00000348520.6_Intron|KLC1_ENST00000452929.2_Intron|XRCC3_ENST00000352127.7_Silent_p.L301L|XRCC3_ENST00000554913.1_Silent_p.L301L			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	301					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTTCCTCGCGGAGCCGGTCAG	0.657000								Direct reversal of damage;Homologous recombination					11	12					4.68919e-08	5.06228e-08	1	1	0
TRAPPC4	51399	broad.mit.edu	37	11	118889918	118889918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118889918G>C	ENST00000533632.1	+	2	605	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	TRAPPC4_ENST00000359005.4_Missense_Mutation_p.E81Q|TRAPPC4_ENST00000525303.1_Intron|TRAPPC4_ENST00000528230.1_Intron|TRAPPC4_ENST00000434101.2_Missense_Mutation_p.E81Q|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.E81Q	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	81					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CGACGGGAAAGAGGTGCTGGA	0.562000													13	62					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422777	42422777	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:42422777C>G	ENST00000328823.9	+	6	553	c.522C>G	c.(520-522)gtC>gtG	p.V174V	WBP2NL_ENST00000543212.1_Silent_p.V100V	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	174					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CAGTTATTGTCTATGGAGCCC	0.468000													51	85					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577219	109577219	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:109577219G>A	ENST00000338432.7	+	2	128	c.9G>A	c.(7-9)ttG>ttA	p.L3L	ACACB_ENST00000377854.5_Silent_p.L3L|ACACB_ENST00000377848.3_Silent_p.L3L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	3					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAATGGTCTTGCTTCTTTGTC	0.408000													24	31					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36766618	36766618	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36766618C>G	ENST00000354618.5	+	10	2659	c.2435C>G	c.(2434-2436)tCa>tGa	p.S812*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.S812*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	812					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTGACAAATCAAGACTGGGG	0.517000			T	USP6	aneurysmal bone cysts								5	46					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052468	52052468	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:52052468G>A	ENST00000340057.1	+	2	140	c.95G>A	c.(94-96)gGa>gAa	p.G32E		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	32					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CGAAATCCAGGATGCCCAAAT	0.493000													95	146					0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116136283	116136283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:116136283C>G	ENST00000238379.5	-	2	1249	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.E118Q	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	118							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						AGGGTGTCCTCAGCCCCATCC	0.627000													35	132					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976008	20976008	+	Missense_Mutation	SNP	G	G	C	rs61746919	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:20976008G>C	ENST00000261383.3	-	53	9197	c.9198C>G	c.(9196-9198)atC>atG	p.I3066M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3066	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCCATTGTCGATGGAGAAGG	0.502000													16	70					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42185575	42185575	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42185575C>T	ENST00000320955.6	-	2	348	c.121G>A	c.(121-123)Gag>Aag	p.E41K	RP11-23P13.6_ENST00000564432.2_RNA|RP11-23P13.6_ENST00000309874.2_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	41	Actin-binding.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGGCCCGTCTCGTACTGAGAG	0.622000													7	31					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9305777	9305777	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:9305777C>G	ENST00000261336.2	-	30	3965	c.3937G>C	c.(3937-3939)Gag>Cag	p.E1313Q	PZP_ENST00000381997.2_Missense_Mutation_p.E1099Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCAGGGAGCTCTGGCAATGAG	0.433000													60	137					0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139836636	139836636	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139836636C>G	ENST00000325285.3	-	6	1037	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	320							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGCATGCGCTCCGACAGCTGT	0.697000													4	5					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21115865	21115865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:21115865C>A	ENST00000261383.3	-	16	2292	c.2293G>T	c.(2293-2295)Gaa>Taa	p.E765*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.E765*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	765	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGATATCTTCAATCTGGTCT	0.478000													48	117					6.68952e-21	7.67152e-21	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12446370	12446370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12446370G>A	ENST00000358136.3	+	60	11741	c.11611G>A	c.(11611-11613)Gaa>Aaa	p.E3871K	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.E3846K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3870					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCACATGCTTGAACTCAGCAT	0.428000													46	93					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776990	38776990	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:38776990C>G	ENST00000308973.4	-	4	827	c.222G>C	c.(220-222)ctG>ctC	p.L74L	TLR10_ENST00000508334.1_Silent_p.L74L|TLR10_ENST00000361424.2_Silent_p.L74L|TLR10_ENST00000506111.1_Silent_p.L74L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	74					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCAAAACTCTCAGTTTGGAGA	0.388000													10	49					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46267858	46267858	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:46267858C>G	ENST00000372004.3	+	14	2835	c.2619C>G	c.(2617-2619)atC>atG	p.I873M	NCOA3_ENST00000371998.3_Missense_Mutation_p.I873M|NCOA3_ENST00000371997.3_Missense_Mutation_p.I883M|NCOA3_ENST00000341724.6_Intron	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	873					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TAAAAAATATCAGTGCTTTCC	0.438000													22	69					0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122848503	122848503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:122848503C>A	ENST00000343035.2	-	3	604	c.556G>T	c.(556-558)Gag>Tag	p.E186*		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	186										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGGCTGCCCTCGGGGCTTTCT	0.647000													8	32					0.00307968	0.00313811	1	1	0
POLRMT	5442	broad.mit.edu	37	19	630072	630072	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:630072C>G	ENST00000588649.2	-	3	374	c.290G>C	c.(289-291)gGa>gCa	p.G97A		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	97					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTACCATCTCCACTGCCACA	0.647000													22	54					0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61624491	61624491	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61624491G>C	ENST00000278840.4	+	6	1383	c.753G>C	c.(751-753)aaG>aaC	p.K251N	FADS2_ENST00000522056.1_Missense_Mutation_p.K220N|FADS2_ENST00000257261.6_Missense_Mutation_p.K229N|FADS2_ENST00000521849.1_Missense_Mutation_p.K251N	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	251					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AGTACGGCAAGAAGAAGCTGA	0.577000													13	71					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27318254	27318254	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:27318254G>C	ENST00000376087.4	-	26	4004	c.3839C>G	c.(3838-3840)gCt>gGt	p.A1280G	ANKRD26_ENST00000376070.3_Missense_Mutation_p.A837G|ANKRD26_ENST00000436985.2_Missense_Mutation_p.A1296G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1279						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACATCTGACAGCTTCTGTATG	0.338000													10	27					0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36259435	36259435	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:36259435C>T	ENST00000396908.4	+	12	1501	c.1428C>T	c.(1426-1428)gcC>gcT	p.A476A	C19orf55_ENST00000536037.1_3'UTR|C19orf55_ENST00000544099.1_3'UTR	NM_001039887.2	NP_001034976.2	Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	477										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGGAGGCCAGAAGACTTT	0.493000													23	87					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46963916	46963916	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:46963916G>A	ENST00000374323.4	-	6	1793	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	SYT15_ENST00000374325.3_Silent_p.F349F|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Silent_p.F349F|SYT15_ENST00000374321.4_Silent_p.F349F			Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCTTGAAGCTGAAGGTCTCAT	0.532000													6	48					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230723948	230723948	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:230723948C>A	ENST00000283943.5	-	3	619	c.441G>T	c.(439-441)caG>caT	p.Q147H	TRIP12_ENST00000389044.4_Missense_Mutation_p.Q189H|TRIP12_ENST00000543084.1_Missense_Mutation_p.Q189H|TRIP12_ENST00000409677.1_Missense_Mutation_p.Q189H|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	147					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTTCTTTTCTGACTCCGTG	0.488000													27	97					4.22769e-11	4.70596e-11	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195395488	195395488	+	RNA	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:195395488G>A	ENST00000445430.1	+	0	895																											CCAGGACCTCGAGTTTGTTCA	0.617000													8	51					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773919	151773919	+	Missense_Mutation	SNP	C	C	T	rs143154971		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151773919C>T	ENST00000368820.3	-	2	2199	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	421	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AATGACCCATCGAGGCCCCGA	0.607000													13	126					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102503216	102503216	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:102503216C>G	ENST00000369138.1	+	15	2813	c.2323C>G	c.(2323-2325)Cga>Gga	p.R775G	GRIK2_ENST00000369137.3_Missense_Mutation_p.R699G|GRIK2_ENST00000421544.1_Missense_Mutation_p.R775G|GRIK2_ENST00000318991.6_Missense_Mutation_p.R775G|GRIK2_ENST00000413795.1_Missense_Mutation_p.R775G|GRIK2_ENST00000369134.4_Missense_Mutation_p.R726G	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	775					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTCTCCATATCGAGACAAAAT	0.408000													15	56					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179989832	179989832	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:179989832C>G	ENST00000367607.3	+	12	3341	c.2923C>G	c.(2923-2925)Ctt>Gtt	p.L975V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	975						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAAAATATCTCTTGGTTCCAG	0.473000													23	145					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56715866	56715866	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56715866C>T	ENST00000425394.2	-	20	3172	c.2796G>A	c.(2794-2796)ctG>ctA	p.L932L	PAN2_ENST00000440411.3_Silent_p.L928L|PAN2_ENST00000548043.1_Silent_p.L932L|PAN2_ENST00000257931.5_Silent_p.L931L	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	932					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACTTACTGTTCAGGTTGTATC	0.408000													53	83					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143703	69143703	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69143703C>T	ENST00000306560.1	+	2	561	c.405C>T	c.(403-405)atC>atT	p.I135I	HAS3_ENST00000569188.1_Silent_p.I135I|HAS3_ENST00000219322.3_Silent_p.I135I	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	135					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCTGGACATCTTCCACGAGG	0.652000													22	48					0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91353615	91353615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:91353615C>T	ENST00000307534.4	-	4	1597	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	PANK1_ENST00000322191.6_Intron|PANK1_ENST00000342512.3_Missense_Mutation_p.G256E|PANK1_ENST00000371774.2_Missense_Mutation_p.G283E	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	481					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TTCATAGTCTCCTCCGTAAAT	0.463000													72	159					0	0	1	0	0
TXLNA	200081	broad.mit.edu	37	1	32660659	32660659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:32660659G>A	ENST00000373609.1	+	10	1785	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	TXLNA_ENST00000373610.3_Missense_Mutation_p.E502K			P40222	TXLNA_HUMAN	taxilin alpha	502					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGTGGCCCTGAGAGGAGGCC	0.642000													23	26					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091004	74091004	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:74091004G>A	ENST00000443185.2	-	4	3383	c.3066C>T	c.(3064-3066)ggC>ggT	p.G1022G	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGCCGCGTCGCCCCTGGACC	0.731000													7	23					0	0	1	0	0
RBM4B	83759	broad.mit.edu	37	11	66444533	66444533	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66444533G>A	ENST00000525754.1	-	1	686	c.18C>T	c.(16-18)atC>atT	p.I6I	RBM4B_ENST00000524637.1_Silent_p.I6I|RBM4B_ENST00000531969.1_Silent_p.I6I|RBM4B_ENST00000531036.2_Silent_p.I6I|RBM4B_ENST00000310046.4_Silent_p.I6I			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	6	RRM 1.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						GAAGGTTTCCGATGAACAGCT	0.502000													21	139					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149302	119149302	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:119149302G>T	ENST00000264033.4	+	9	1686	c.1310G>T	c.(1309-1311)aGa>aTa	p.R437I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	437	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTTGATCCTAGAGGGAGTGGC	0.483000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				36	78					1.36615e-20	1.5653e-20	1	1	0
JRKL	8690	broad.mit.edu	37	11	96124003	96124003	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:96124003C>G	ENST00000458427.1	+	1	846	c.190C>G	c.(190-192)Ctt>Gtt	p.L64V	JRKL_ENST00000332349.4_Missense_Mutation_p.L64V|JRKL_ENST00000546177.1_Intron	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	64					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		TTCCACAAGTCTTTTGGCCAA	0.398000													18	104					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48482603	48482603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48482603C>T	ENST00000004980.5	-	5	839	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	SENP1_ENST00000448372.1_Missense_Mutation_p.E121K|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000551330.1_Missense_Mutation_p.E121K|SENP1_ENST00000549518.1_Missense_Mutation_p.E121K|SENP1_ENST00000549595.1_Missense_Mutation_p.E121K|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	121	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTTCGGGTTTCGAGGTAAAGA	0.403000													5	9					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763271	62763271	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:62763271C>T	ENST00000336232.2	-	7	1041	c.906G>A	c.(904-906)caG>caA	p.Q302Q	SLC22A8_ENST00000311438.8_Silent_p.Q302Q|SLC22A8_ENST00000535878.1_Silent_p.Q179Q|SLC22A8_ENST00000545207.1_Silent_p.Q211Q|SLC22A8_ENST00000430500.2_Silent_p.Q302Q	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	302					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGATCTCCTTCTGCAGGTTGA	0.587000													22	84					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149867721	149867721	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:149867721C>T	ENST00000445323.2	+	2	321	c.200C>T	c.(199-201)tCt>tTt	p.S67F	MTMR1_ENST00000544228.1_Missense_Mutation_p.S67F|MTMR1_ENST00000370390.3_Missense_Mutation_p.S67F|MTMR1_ENST00000541925.1_5'UTR|MTMR1_ENST00000542156.1_Missense_Mutation_p.S67F|MTMR1_ENST00000451863.2_Missense_Mutation_p.S67F			Q13613	MTMR1_HUMAN	myotubularin related protein 1	67						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCTACAATTTCTAGTCAGATT	0.353000													18	86					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299590	125299590	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:125299590C>A	ENST00000538699.1	-	2	398	c.318G>T	c.(316-318)ctG>ctT	p.L106L	DCAF12L2_ENST00000360028.2_Silent_p.L106L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	106										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCTGGCGTTCAGCCACTGTG	0.652000													8	75					0.0477658	0.0481769	1	1	0
DNASE1L2	1775	broad.mit.edu	37	16	2286829	2286829	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2286829C>T	ENST00000564065.1	+	1	1013	c.12C>T	c.(10-12)ccC>ccT	p.P4P	DNASE1L2_ENST00000382437.4_Silent_p.P4P|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000320700.5_Silent_p.P4P|DNASE1L2_ENST00000567494.1_Silent_p.P4P			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	4					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding			endometrium(1)|prostate(1)|skin(2)	4						TGGGCGGGCCCCGGGCTCTGC	0.706000													4	9					0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172841129	172841129	+	Missense_Mutation	SNP	G	G	A	rs140409528		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:172841129G>A	ENST00000264108.4	+	9	893	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	HAT1_ENST00000392584.1_Missense_Mutation_p.R201Q|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	286					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTGAAATTACGAGACTTTGTG	0.353000													20	40					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100874104	100874104	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:100874104G>T	ENST00000358544.2	+	58	11331	c.11220G>T	c.(11218-11220)cgG>cgT	p.R3740R	VPS13B_ENST00000357162.2_Silent_p.R3715R|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3740					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGAGTGGCGGCGGCAGCTCC	0.672000													11	27					3.07112e-06	3.24747e-06	1	1	0
CENPF	1063	broad.mit.edu	37	1	214826227	214826227	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:214826227C>A	ENST00000366955.3	+	16	8385	c.8217C>A	c.(8215-8217)ctC>ctA	p.L2739L	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2835	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAATGTCTCAGTTCACAGA	0.328000													17	72					8.00594e-06	8.42421e-06	1	1	0
HAT1	8520	broad.mit.edu	37	2	172822425	172822425	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:172822425C>G	ENST00000264108.4	+	6	643	c.607C>G	c.(607-609)Cta>Gta	p.L203V	HAT1_ENST00000392584.1_Missense_Mutation_p.L118V|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	203					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCACTACTTTCTAGTGTAAGT	0.378000													20	115					0	0	1	0	0
C3orf18	51161	broad.mit.edu	37	3	50603073	50603073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:50603073C>G	ENST00000357203.3	-	3	597	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	C3orf18_ENST00000486175.1_Intron|C3orf18_ENST00000449241.1_Missense_Mutation_p.E20Q|C3orf18_ENST00000426034.1_Missense_Mutation_p.E20Q|C3orf18_ENST00000441239.1_Missense_Mutation_p.E20Q	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	20						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		AGGTCAGACTCAGAGGTGGGT	0.622000													3	23					0	0	1	0	0
UPK2	7379	broad.mit.edu	37	11	118827675	118827675	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118827675C>T	ENST00000264031.2	+	2	194	c.159C>T	c.(157-159)ctC>ctT	p.L53L	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	53					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCTGTCACCTCACAGGAGGCA	0.592000											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	79					0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	735939	735939	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:735939G>C	ENST00000293883.4	-	5	2262	c.1503C>G	c.(1501-1503)gaC>gaG	p.D501E	WDR24_ENST00000248142.6_Missense_Mutation_p.D631E	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	631										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTTTGCTGCGGTCCAGCCGCG	0.642000													16	118					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25717274	25717274	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:25717274G>A	ENST00000349320.3	-	7	1107	c.719C>T	c.(718-720)tCa>tTa	p.S240L	RHCE_ENST00000243186.6_Missense_Mutation_p.S256L|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.S240L|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000349438.4_Missense_Mutation_p.S256L|RHCE_ENST00000413854.1_Missense_Mutation_p.S256L|RHCE_ENST00000425135.1_Missense_Mutation_p.S256L|RHCE_ENST00000294413.7_Missense_Mutation_p.S256L|RHCE_ENST00000340849.4_Intron			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	256						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCAAGGATGACCCTGAGAT	0.527000													21	141					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885303	12885303	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12885303C>T	ENST00000535591.1	-	4	1003	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	270										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCTTCAAGTCTGATTCCAAA	0.468000													114	300					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21979365	21979365	+	Translation_Start_Site	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:21979365T>C	ENST00000298717.4	-	1	152	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	METTL3_ENST00000545319.1_5'UTR|METTL3_ENST00000538267.1_Start_Codon_SNP_p.M1V	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	1					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GTGTCCGACATCCTAGTCTCC	0.632000													5	12					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85556483	85556483	+	Missense_Mutation	SNP	T	T	G	rs141889582		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:85556483T>G	ENST00000295887.5	+	8	1212	c.789T>G	c.(787-789)ttT>ttG	p.F263L		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	263					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	p.G264fs*7(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GATTTTTTTTTGGGAGAACTC	0.318000													15	85					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197004437	197004437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:197004437G>C	ENST00000263955.4	-	7	1029	c.743C>G	c.(742-744)tCt>tGt	p.S248C	STK17B_ENST00000409228.1_Missense_Mutation_p.S248C	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	248	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATTAACTTGAGAAATATTGAG	0.333000													46	74					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221331	161221331	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:161221331C>T	ENST00000327928.4	+	4	1035	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	345	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGTCGGCTTTCAGCGCTGGTT	0.517000													13	41					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035414	201035414	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:201035414C>T	ENST00000362061.3	-	21	2914	c.2688G>A	c.(2686-2688)ctG>ctA	p.L896L	CACNA1S_ENST00000367338.3_Silent_p.L896L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	896					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCAGCACCCTCAGGATCTTCA	0.662000													12	65					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30627868	30627868	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:30627868C>T	ENST00000376442.3	-	10	1891	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Missense_Mutation_p.D85N	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	566	Helicase ATP-binding.		D -> G (in dbSNP:rs9262138).		mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						ACAGGGGCGTCATCAAAGAAG	0.542000													20	69					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93097339	93097339	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:93097339C>G	ENST00000298050.3	+	5	411	c.311C>G	c.(310-312)aCa>aGa	p.T104R		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	104										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TCCAAACTAACAAATAACTTT	0.303000													5	25					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45785753	45785753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:45785753G>A	ENST00000357450.4	-	10	1569	c.1570C>T	c.(1570-1572)Cat>Tat	p.H524Y	SMC1B_ENST00000404354.3_Missense_Mutation_p.H524Y	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	524	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGAATAGGATGACACAGGTCA	0.338000													36	73					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331409	28331409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:28331409G>T	ENST00000341901.4	+	4	1231	c.442G>T	c.(442-444)Gag>Tag	p.E148*		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	148	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GGGGCTCCCTGAGGACACGGT	0.711000													4	12					0.184627	0.185058	1	1	0
ZNF132	7691	broad.mit.edu	37	19	58948469	58948469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:58948469C>G	ENST00000254166.3	-	2	577	c.177G>C	c.(175-177)caG>caC	p.Q59H		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	59	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_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;0.0171)|Lung(386;0.182)		ACAGGTGCCTCTGGGCTGCAT	0.517000													13	60					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462600	5462600	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:5462600G>A	ENST00000296564.7	+	13	3375	c.3153G>A	c.(3151-3153)ttG>ttA	p.L1051L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1051										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTGGAAATTGAAATCTACAA	0.463000													40	140					0	0	1	0	0
UBFD1	56061	broad.mit.edu	37	16	23581875	23581875	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:23581875C>G	ENST00000395878.3	+	7	1275	c.894C>G	c.(892-894)atC>atG	p.I298M	UBFD1_ENST00000567212.1_Missense_Mutation_p.I289M|UBFD1_ENST00000219638.4_Missense_Mutation_p.I522M	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	298										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TGGATGCAATCAAAGACACTG	0.512000													20	120					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175649820	175649820	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:175649820C>G	ENST00000274093.3	-	4	799	c.297G>C	c.(295-297)caG>caC	p.Q99H	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.Q99H	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	99					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CATTCCATTTCTGACGAAGAA	0.378000													15	89					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90127692	90127692	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:90127692C>G	ENST00000268138.7	+	3	1215	c.1110C>G	c.(1108-1110)agC>agG	p.S370R	TICRR_ENST00000560985.1_Missense_Mutation_p.S369R|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		CAGAGGAGAGCACAGCAACTC	0.502000													17	63					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532405	40532405	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:40532405G>A	ENST00000297737.6	-	5	541	c.395C>T	c.(394-396)cCg>cTg	p.P132L	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	132						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TGCGACCACCGGAGCAGTGTC	0.517000													74	176					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96807901	96807901	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96807901C>T	ENST00000359933.4	-	6	1775	c.882G>A	c.(880-882)ttG>ttA	p.L294L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	294								p.L294L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACGTGAGACTCAACTCCAACC	0.388000													83	84					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156375436	156375436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:156375436G>A	ENST00000274532.2	-	5	891	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	TIMD4_ENST00000407087.3_Intron	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	279						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCCAGGCTGAGGAGAAGAC	0.328000													8	11					0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202700471	202700471	+	Missense_Mutation	SNP	C	C	G	rs61383268		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:202700471C>G	ENST00000450471.2	+	8	922	c.836C>G	c.(835-837)tCt>tGt	p.S279C	CDK15_ENST00000434439.1_Missense_Mutation_p.S279C|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Missense_Mutation_p.S228C|CDK15_ENST00000410091.3_Missense_Mutation_p.S228C|CDK15_ENST00000374598.4_Missense_Mutation_p.S279C	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	279	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAATATTCCTCTGAGCTGGAC	0.473000													17	47					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121384943	121384943	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:121384943C>G	ENST00000260197.7	+	8	1253	c.1124C>G	c.(1123-1125)tCa>tGa	p.S375*	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	375					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			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)		TTATACATCTCAGAGGCAGAG	0.512000													15	70					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201030512	201030512	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:201030512G>A	ENST00000362061.3	-	25	3364	c.3138C>T	c.(3136-3138)atC>atT	p.I1046I	CACNA1S_ENST00000367338.3_Silent_p.I1046I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1046	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGATGTAGATGATGAAGAAGA	0.517000													13	54					0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112300027	112300027	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:112300027C>G	ENST00000492406.1	+	6	1346	c.1063C>G	c.(1063-1065)Ccc>Gcc	p.P355A	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	355						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TGACTTCAGGCCCTCCCTGGA	0.448000													13	72					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141677148	141677148	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:141677148C>T	ENST00000442267.2	-	1	126	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	18						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTGGCCCTCTCGGTGATCCAC	0.701000													5	12					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767661	105767661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:105767661G>A	ENST00000374798.3	+	5	818	c.748G>A	c.(748-750)Gat>Aat	p.D250N	CYLC2_ENST00000487798.1_Missense_Mutation_p.D250N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	250	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGGAAAAAAAGATGCAAACAA	0.368000													8	55					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143053718	143053718	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143053718G>C	ENST00000409408.1	-	6	2632	c.924C>G	c.(922-924)ctC>ctG	p.L308L	FAM131B_ENST00000409578.1_Silent_p.L324L|FAM131B_ENST00000443739.2_Silent_p.L336L|FAM131B_ENST00000409222.3_Silent_p.L308L|FAM131B_ENST00000409346.1_Silent_p.L308L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	308										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCTTCCGGCTGAGAGCGGTAG	0.582000													33	143					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264380	61264380	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:61264380C>T	ENST00000344731.5	+	8	1061	c.959C>T	c.(958-960)tCg>tTg	p.S320L	SERPINB13_ENST00000269489.5_Missense_Mutation_p.S268L	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	320					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCGGGAATGTCGTCAGGCTCC	0.592000													16	93					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270525	1270525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:1270525C>T	ENST00000348261.5	+	35	6841	c.6593C>T	c.(6592-6594)gCg>gTg	p.A2198V	CACNA1H_ENST00000565831.1_Missense_Mutation_p.A2192V|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A2192V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2198					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GAACCCCCTGCGGAGGACGAG	0.721000													11	33					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25744264	25744264	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:25744264G>C	ENST00000357816.2	-	3	1612	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	AMER2_ENST00000515384.1_Missense_Mutation_p.I498M|AMER2_ENST00000381853.3_Missense_Mutation_p.I379M					APC membrane recruitment protein 2																		GATGGGGCTCGATGGGAATCC	0.647000													8	62					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48540834	48540834	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48540834C>G	ENST00000427954.2	+	9	1085	c.1042C>G	c.(1042-1044)Ctg>Gtg	p.L348V	ACSF2_ENST00000541920.1_Missense_Mutation_p.L163V|ACSF2_ENST00000502667.1_Missense_Mutation_p.L310V|ACSF2_ENST00000300441.4_Missense_Mutation_p.L323V|ACSF2_ENST00000504392.1_Missense_Mutation_p.L280V			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	323					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AATGATGTGTCTGATGTACGG	0.587000													30	40					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62390905	62390905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:62390905C>G	ENST00000281156.4	-	9	1291	c.1013G>C	c.(1012-1014)aGa>aCa	p.R338T	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTATCCCCCTCTGGCTGACCT	0.493000													6	35					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14876511	14876511	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14876511C>A	ENST00000315576.3	-	8	1191	c.740G>T	c.(739-741)aGa>aTa	p.R247I	EMR2_ENST00000353876.1_Missense_Mutation_p.R154I|EMR2_ENST00000601345.1_Missense_Mutation_p.R247I|EMR2_ENST00000392967.2_Missense_Mutation_p.R247I|EMR2_ENST00000594294.1_Missense_Mutation_p.R198I|EMR2_ENST00000392965.3_Missense_Mutation_p.R247I|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.R198I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000594076.1_Missense_Mutation_p.R154I|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000596991.2_Missense_Mutation_p.R247I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	247	EGF-like 5; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GATTCCGTGTCTGGGCTTCCA	0.607000													10	66					9.16793e-09	9.98096e-09	1	1	0
SPHK2	56848	broad.mit.edu	37	19	49132306	49132306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49132306C>A	ENST00000443164.1	+	5	2132	c.1427C>A	c.(1426-1428)tCa>tAa	p.S476*	SPHK2_ENST00000599029.1_Nonsense_Mutation_p.S378*|SPHK2_ENST00000245222.4_Nonsense_Mutation_p.S414*|SPHK2_ENST00000600537.1_Nonsense_Mutation_p.S355*|SPHK2_ENST00000599748.1_Nonsense_Mutation_p.S378*|SPHK2_ENST00000340932.3_Nonsense_Mutation_p.S376*|SPHK2_ENST00000598088.1_Nonsense_Mutation_p.S414*			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	414					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		atggcccactcacccctgcat	0.677000													17	21					4.7546e-09	5.20262e-09	1	1	0
RUSC1	23623	broad.mit.edu	37	1	155294700	155294700	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:155294700G>A	ENST00000368352.5	+	3	1573	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	RUSC1_ENST00000368354.3_Silent_p.Q474Q|RUSC1_ENST00000368347.4_Silent_p.Q64Q|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Silent_p.Q5Q|RUSC1_ENST00000292254.4_Silent_p.Q5Q	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	474						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAGAAGCCCAGAGTGGGACTG	0.642000											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	122					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67024685	67024685	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:67024685G>C	ENST00000340001.4	-	12	1817	c.1606C>G	c.(1606-1608)Cca>Gca	p.P536A	ABCA9_ENST00000453985.2_Missense_Mutation_p.P536A|ABCA9_ENST00000370732.2_Missense_Mutation_p.P536A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	536	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCTGATGTTGGAACTGACAAC	0.438000													26	82					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104129979	104129979	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:104129979G>C	ENST00000369983.3	+	27	3645	c.3385G>C	c.(3385-3387)Gag>Cag	p.E1129Q		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1129					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTCCAGCTGGAGTCACTACA	0.463000													94	114					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231473029	231473029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:231473029C>T	ENST00000366645.1	-	1	569	c.451G>A	c.(451-453)Gag>Aag	p.E151K	SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_Missense_Mutation_p.E155K			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	155					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TTTCCTTCCTCGCCTGGACCG	0.677000													12	19					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492542	74492542	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:74492542C>T	ENST00000354431.4	-	8	2021	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V	LRRIQ3_ENST00000395089.1_Silent_p.V610V	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	610								p.V610V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AATTTGTTTTCACAATTGCTA	0.284000													6	41					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55900125	55900125	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:55900125G>T	ENST00000447944.2	-	9	855	c.769C>A	c.(769-771)Cag>Aag	p.Q257K		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	257					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGAATGCCCTGAATTATTTGT	0.398000													19	134					1.40151e-16	1.59589e-16	1	1	0
CMKLR1	1240	broad.mit.edu	37	12	108685927	108685927	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:108685927G>A	ENST00000397688.2	-	3	1176	c.807C>T	c.(805-807)ctC>ctT	p.L269L	CMKLR1_ENST00000550402.1_Silent_p.L271L|CMKLR1_ENST00000312143.7_Silent_p.L271L|CMKLR1_ENST00000552995.1_Silent_p.L269L|CMKLR1_ENST00000412676.1_Silent_p.L271L	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	271					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGCACCAGCAGAGGAAGAAGG	0.562000													8	39					0	0	1	0	0
SKA2	348235	broad.mit.edu	37	17	57189697	57189697	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:57189697G>T	ENST00000330137.7	-	4	412	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	SKA2_ENST00000581068.1_Missense_Mutation_p.L44M|SKA2_ENST00000437036.2_Missense_Mutation_p.H75Q|AC099850.1_ENST00000451775.1_RNA|SKA2_ENST00000578105.1_Missense_Mutation_p.L74M|SKA2_ENST00000580541.1_Missense_Mutation_p.H46Q|SKA2_ENST00000583927.1_5'UTR|SKA2_ENST00000583380.1_Missense_Mutation_p.H109Q	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	103					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			lung(4)	4						TCTTTAGTCAGTGGTGACAGC	0.323000													27	48					1.42536e-11	1.58935e-11	1	1	0
EIF2B2	8892	broad.mit.edu	37	14	75475859	75475859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75475859G>A	ENST00000266126.5	+	8	1104	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	342					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CCTGATGAGTGAACTCTACCA	0.473000													49	291					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85691040	85691040	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:85691040C>A	ENST00000253458.7	+	8	1646	c.1470C>A	c.(1468-1470)cgC>cgA	p.R490R	GSE1_ENST00000405402.2_Silent_p.R386R|GSE1_ENST00000393243.1_Silent_p.R417R	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		TGATCCAGCGCACCAATGAGG	0.662000													5	35					0.184627	0.185058	1	1	0
SP7	121340	broad.mit.edu	37	12	53722170	53722170	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53722170C>T	ENST00000536324.2	-	3	1339	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	SP7_ENST00000303846.3_Silent_p.K352K|SP7_ENST00000537210.2_Silent_p.K334K	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGGTGAACTTCTTCTCCCGGG	0.622000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	49					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157186448	157186448	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:157186448G>A	ENST00000339562.4	-	3	613	c.251C>T	c.(250-252)tCc>tTc	p.S84F	NR4A2_ENST00000539077.1_Missense_Mutation_p.S95F|NR4A2_ENST00000409108.2_Missense_Mutation_p.S84F|NR4A2_ENST00000409572.1_Missense_Mutation_p.S84F|NR4A2_ENST00000426264.1_Missense_Mutation_p.S21F|NR4A2_ENST00000429376.1_Missense_Mutation_p.S21F	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	84	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTGCTGTCCGGACAGGGGCAT	0.542000													17	82					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768677	31768677	+	Silent	SNP	C	C	T	rs151270303		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:31768677C>T	ENST00000240587.4	-	2	2349	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	674					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACCCATCCCGCGGGGGGCTGG	0.657000													12	65					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129913840	129913840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:129913840C>G	ENST00000368654.3	-	7	1207	c.832G>C	c.(832-834)Gat>Cat	p.D278H	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	278					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)				TGTAAACCATCAGCACTTTCT	0.448000													17	32					0	0	1	0	0
SUMO2	6613	broad.mit.edu	37	17	73164440	73164440	+	Silent	SNP	G	G	C	rs55895120		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73164440G>C	ENST00000420826.2	-	4	430	c.282C>G	c.(280-282)gtC>gtG	p.V94V	SUMO2_ENST00000578238.1_Silent_p.V51V|SUMO2_ENST00000314523.7_Silent_p.V70V	NM_006937.3	NP_008868.3	P61956	SUMO2_HUMAN	small ubiquitin-like modifier 2	94	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CTTTTCAGTAGACACCTCCCG	0.378000													7	27					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36365501	36365501	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:36365501C>T	ENST00000221891.4	+	9	1344	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Silent_p.I345I|APLP1_ENST00000586861.1_Silent_p.I378I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	384					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGCCCTTATCAACGACCAGC	0.662000													22	99					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48720649	48720649	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:48720649C>T	ENST00000316623.5	-	57	7346	c.6891G>A	c.(6889-6891)acG>acA	p.T2297T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2297	EGF-like 40; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCCTGGCTTCGTCTGACATT	0.488000													6	39					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55342102	55342102	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:55342102C>G	ENST00000536015.1	-	16	1902	c.1783G>C	c.(1783-1785)Gac>Cac	p.D595H	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.D595H|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	595					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTGTTGAAGTCCAAAATGGCA	0.473000													30	44					0	0	1	0	0
SNX10	29887	broad.mit.edu	37	7	26412157	26412157	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:26412157G>A	ENST00000338523.4	+	7	758	c.571G>A	c.(571-573)Gga>Aga	p.G191R	AC004540.4_ENST00000451264.1_RNA|SNX10_ENST00000409838.1_Missense_Mutation_p.G107R|SNX10_ENST00000396376.1_Missense_Mutation_p.G191R|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000446848.2_Missense_Mutation_p.G217R|SNX10_ENST00000409367.1_Missense_Mutation_p.G151R|AC004540.4_ENST00000451368.1_RNA	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	191					cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						CAGTTCACATGGATGTAAAGT	0.373000													25	162					0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39425374	39425374	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39425374G>A	ENST00000216099.8	+	5	1019	c.612G>A	c.(610-612)ccG>ccA	p.P204P	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.P204P	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TCAGAAACCCGATGGAGGCAA	0.522000													23	51					0	0	1	0	0
PXMP2	5827	broad.mit.edu	37	12	133277849	133277849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:133277849C>A	ENST00000317479.3	+	4	478	c.413C>A	c.(412-414)tCa>tAa	p.S138*	PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000428960.2_Nonsense_Mutation_p.S45*|RP13-672B3.2_ENST00000537262.1_Silent_p.L9L|PXMP2_ENST00000539093.1_Silent_p.L9L|PXMP2_ENST00000545677.1_Silent_p.L9L	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	138						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		AAAGACGCCTCAGCCTTCGCC	0.587000													18	126					1.56452e-12	1.75668e-12	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18801875	18801875	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:18801875G>T	ENST00000406451.4	+	15	2280	c.2130G>T	c.(2128-2130)caG>caT	p.Q710H	HDAC9_ENST00000441542.2_Missense_Mutation_p.Q713H|HDAC9_ENST00000432645.2_Missense_Mutation_p.Q710H|HDAC9_ENST00000401921.1_Missense_Mutation_p.Q669H	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9		Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGACGGACAGAAGCTGGACC	0.512000													5	30					5.9392e-07	6.33744e-07	1	1	0
CEP350	9857	broad.mit.edu	37	1	179989239	179989239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:179989239C>G	ENST00000367607.3	+	12	2748	c.2330C>G	c.(2329-2331)tCt>tGt	p.S777C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	777						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATTTTGAATCTATTTTACCA	0.408000													12	109					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17080621	17080621	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:17080621C>T	ENST00000357277.3	+	9	1346	c.1175C>T	c.(1174-1176)gCa>gTa	p.A392V	REPS2_ENST00000380064.4_Missense_Mutation_p.A252V|REPS2_ENST00000303843.7_Missense_Mutation_p.A391V	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	392					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TCACTGCCGGCAAATCAACAA	0.358000													18	60					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	713026	713026	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:713026G>A	ENST00000382303.1	+	7	2912	c.2260G>A	c.(2260-2262)Gtg>Atg	p.V754M	KANK1_ENST00000382293.3_Missense_Mutation_p.V596M|KANK1_ENST00000382297.2_Missense_Mutation_p.V754M|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	754					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCATCAGCTGTGAAGACCAA	0.498000													25	24					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17790135	17790135	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17790135C>G	ENST00000259711.6	-	26	3334	c.3229G>C	c.(3229-3231)Gat>Cat	p.D1077H	KIF13A_ENST00000378826.2_Missense_Mutation_p.D1077H|KIF13A_ENST00000378816.5_Missense_Mutation_p.D1077H|KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378843.2_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1077					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCATCCTCATCATCTCTCTGG	0.383000													10	22					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65998061	65998061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:65998061C>G	ENST00000320580.4	+	12	1450	c.1417C>G	c.(1417-1419)Ctg>Gtg	p.L473V	PACS1_ENST00000529757.1_Missense_Mutation_p.L9V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	473					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CAGCACGAGTCTGGTTGTGCC	0.542000													9	52					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846150	47846150	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:47846150G>T	ENST00000339488.4	-	3	2463	c.2430C>A	c.(2428-2430)ttC>ttA	p.F810L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	810						integral to membrane	hedgehog receptor activity										TGGAAGGGGGGAAAAACGTTA	0.448000													19	74					3.99206e-14	4.51779e-14	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160525708	160525708	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:160525708G>A	ENST00000356956.1	+	48	7216	c.7068G>A	c.(7066-7068)gtG>gtA	p.V2356V	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2356					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CCTGGCAGGTGAATAAGGAAG	0.567000													8	36					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52913532	52913532	+	Silent	SNP	G	G	A	rs61726460		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:52913532G>A	ENST00000252242.4	-	1	939	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	183	Coil 1A.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACCTTGTCGATGAAGGAGG	0.468000													28	100					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27589789	27589789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27589789G>T	ENST00000493344.2	-	10	1403	c.1091C>A	c.(1090-1092)tCa>tAa	p.S364*	EIF2B4_ENST00000347454.4_Nonsense_Mutation_p.S343*|EIF2B4_ENST00000451130.2_Nonsense_Mutation_p.S363*|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000445933.2_Nonsense_Mutation_p.S342*			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	343					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAATTCGTGATACCAGAGA	0.502000													41	273					2.01872e-29	2.32748e-29	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228495976	228495976	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:228495976G>T	ENST00000570156.2	+	58	15576	c.15502G>T	c.(15502-15504)Gat>Tat	p.D5168Y	OBSCN_ENST00000366707.4_Missense_Mutation_p.D1845Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D1330Y|OBSCN_ENST00000422127.1_Missense_Mutation_p.D4211Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D4211Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4211	Ig-like 49.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTGTGCGGGATGGCCGCAT	0.632000													13	16					4.36969e-10	4.83479e-10	1	1	0
YAP1	10413	broad.mit.edu	37	11	102100566	102100566	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:102100566G>C	ENST00000282441.5	+	9	1798	c.1410G>C	c.(1408-1410)ctG>ctC	p.L470L	YAP1_ENST00000537274.1_Silent_p.L458L|YAP1_ENST00000345877.2_Silent_p.L420L|YAP1_ENST00000524575.1_Silent_p.L292L|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000531439.1_Silent_p.L454L|YAP1_ENST00000526343.1_Silent_p.L416L	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	470	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GAGAGGAGCTGATGCCAAGTC	0.463000													14	104					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													4	48					0	0	1	0	0
CCL16	6360	broad.mit.edu	37	17	34308454	34308454	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:34308454C>T	ENST00000293275.3	-	1	78	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	1					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGAGACCTTCATCCTCTCAG	0.547000													3	13					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74490221	74490221	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:74490221G>C	ENST00000437994.2	+	16	2333	c.1902G>C	c.(1900-1902)caG>caC	p.Q634H	CD109_ENST00000287097.5_Splice_Site_p.Q634H|CD109_ENST00000422508.2_Splice_Site_p.Q557H	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	634	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTCTTTCAGGTATGTTTTG	0.294000													14	102					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39450291	39450291	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:39450291G>C	ENST00000257408.4	+	5	3217	c.3120G>C	c.(3118-3120)aaG>aaC	p.K1040N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	1040					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGAAAGGCAAGAGAGTTGTTA	0.353000													11	85					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127544799	127544799	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:127544799G>A	ENST00000354725.3	+	14	1648		c.e14-1			NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1						gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTCCTTAACAGAGCTATTAAG	0.443000													9	41					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69053293	69053293	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:69053293C>G	ENST00000295381.3	+	11	2324	c.1905C>G	c.(1903-1905)gtC>gtG	p.V635V	ARHGAP25_ENST00000409030.3_Silent_p.V628V|ARHGAP25_ENST00000409220.1_Silent_p.V629V|ARHGAP25_ENST00000409202.3_Silent_p.V636V|ARHGAP25_ENST00000479844.1_Silent_p.V329V|ARHGAP25_ENST00000467265.1_Silent_p.V596V	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	635					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGGAATTTGTCAAATCCATGA	0.552000													12	73					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10139097	10139097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:10139097C>T	ENST00000324907.9	+	15	1818	c.1682C>T	c.(1681-1683)tCa>tTa	p.S561L	GRHL1_ENST00000324883.5_Missense_Mutation_p.S372L|GRHL1_ENST00000480736.1_Missense_Mutation_p.S15L|GRHL1_ENST00000405379.2_Missense_Mutation_p.S561L	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	561					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTTTAGATCTCAGACAAATAC	0.348000													3	27					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36894043	36894043	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36894043C>T	ENST00000397224.4	-	6	1470	c.1377G>A	c.(1375-1377)ttG>ttA	p.L459L	FOXRED2_ENST00000397223.4_Silent_p.L459L|FOXRED2_ENST00000216187.6_Silent_p.L459L|FOXRED2_ENST00000366463.3_Silent_p.L11L	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	459					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCACTCCTTCAACAGGATGA	0.602000													19	53					0	0	1	0	0
EIF2S3	1968	broad.mit.edu	37	X	24086216	24086216	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:24086216G>A	ENST00000253039.4	+	9	1256	c.1003G>A	c.(1003-1005)Ggt>Agt	p.G335S		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	335						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TGCTCCAGGCGGTCTTATTGG	0.363000													24	63					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25266996	25266996	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:25266996G>A	ENST00000218548.6	+	10	1690	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	ATP12A_ENST00000381946.3_Missense_Mutation_p.E447K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	447					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TAACCGAGCAGAGTTCAAGCC	0.463000													38	267					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32094926	32094926	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32094926G>A	ENST00000375201.4	-	4	332	c.287C>T	c.(286-288)tCc>tTc	p.S96F	ATF6B_ENST00000375203.3_Missense_Mutation_p.S99F|ATF6B_ENST00000468502.1_5'UTR			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	99	Poly-Ser.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GGAGCTGAGGGAGGAGGAAGA	0.527000													6	17					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38139354	38139354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:38139354G>A	ENST00000308059.6	+	18	2706	c.2685G>A	c.(2683-2685)atG>atA	p.M895I	DLEC1_ENST00000346219.3_Missense_Mutation_p.M895I|DLEC1_ENST00000452631.2_Missense_Mutation_p.M895I			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	895					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATGGCGCATGAAGGAGAGCC	0.597000													13	51					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132424226	132424226	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:132424226C>G	ENST00000304858.2	+	9	1405	c.1116C>G	c.(1114-1116)gtC>gtG	p.V372V		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	372					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGAAGCTGTCACTCGAGGCT	0.368000													33	44					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43348526	43348526	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:43348526C>T	ENST00000344686.2	-	0	1825							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACCTTGGCGTCGCAGCTCCTG	0.597000											OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	37					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150936790	150936790	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150936790G>C	ENST00000271640.5	+	22	4016	c.3826G>C	c.(3826-3828)Gag>Cag	p.E1276Q	CERS2_ENST00000561294.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.E1275Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1276	Post-SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGGCAAGGAGCTACTCTG	0.507000													10	60					0	0	1	0	0
RPL3	6122	broad.mit.edu	37	22	39710727	39710727	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39710727C>T	ENST00000216146.4	-	6	986	c.813G>A	c.(811-813)caG>caA	p.Q271Q	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.Q219Q	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	271					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					GGTAGCCTTTCTGCCCAGCGC	0.622000													9	31					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179197760	179197760	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179197760G>A	ENST00000190611.4	+	8	1025	c.649G>A	c.(649-651)Gat>Aat	p.D217N	OSBPL6_ENST00000315022.2_Missense_Mutation_p.D196N|OSBPL6_ENST00000359685.3_Missense_Mutation_p.D217N|OSBPL6_ENST00000392505.2_Missense_Mutation_p.D217N|OSBPL6_ENST00000357080.4_Missense_Mutation_p.D217N|OSBPL6_ENST00000409045.3_Missense_Mutation_p.D217N|OSBPL6_ENST00000409631.1_Missense_Mutation_p.D217N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	217					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTGTAATGGATGGAAAGGT	0.398000													10	59					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136574418	136574418	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:136574418C>G	ENST00000446465.2	+	2	1744	c.1116C>G	c.(1114-1116)atC>atG	p.I372M	RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.I372M|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	372	DUF6 2.					Golgi apparatus|integral to membrane											TTCCTAGCATCTATGATGTTT	0.403000													33	157					0	0	1	0	0
NINJ2	4815	broad.mit.edu	37	12	674518	674518	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:674518G>A	ENST00000305108.4	-	3	730	c.450C>T	c.(448-450)ctC>ctT	p.L150L	NINJ2_ENST00000397265.3_Silent_p.L97L|NINJ2_ENST00000542920.1_Silent_p.L68L	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	104					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CTGCGTTGTTGAGCTGGTTGA	0.557000													18	93					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63003725	63003725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:63003725G>A	ENST00000251157.5	-	28	3341	c.3308C>T	c.(3307-3309)tCa>tTa	p.S1103L	DOCK7_ENST00000340370.5_Missense_Mutation_p.S1072L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1103					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTAAAGCTTTGAAGACACCTT	0.348000													11	83					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107923	55107923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55107923C>T	ENST00000251372.3	+	7	1410	c.1228C>T	c.(1228-1230)Cac>Tac	p.H410Y	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	410	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTGCTGTCTCACCCCAGTGA	0.612000													66	120					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107894	55107894	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55107894C>T	ENST00000251372.3	+	7	1381	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	400	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGCTACGGCTCACTCAGCTCC	0.572000													80	136					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89789204	89789204	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89789204C>T	ENST00000289816.5	+	2	558	c.246C>T	c.(244-246)gtC>gtT	p.V82V	ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000443381.2_Silent_p.V157V|ZNF276_ENST00000568064.1_Silent_p.V82V	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	157	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGCAGAGGGTCAACGCCTCCC	0.597000													16	92					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40323037	40323037	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:40323037C>G	ENST00000316891.5	-	2	241	c.227G>C	c.(226-228)aGa>aCa	p.R76T	TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.R76T|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.R76T|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000541099.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	76					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGGCAGATTCTCTGCTCTTG	0.448000													6	28					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55961025	55961025	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55961025G>A	ENST00000263923.4	-	21	3210	c.2915C>T	c.(2914-2916)tCa>tTa	p.S972L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	972	Protein kinase.				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)	AGAGCTGGCTGAGCTCTGGCT	0.527000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			34	81					0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78386496	78386496	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:78386496C>T	ENST00000328828.5	+	2	219	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SH2D7_ENST00000409568.2_5'UTR	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	73	SH2.									endometrium(2)|kidney(2)|lung(3)	7						TTGGTTCCTTCCTTATCCGCC	0.567000													3	10					0	0	1	0	0
UPK2	7379	broad.mit.edu	37	11	118827612	118827612	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118827612C>G	ENST00000264031.2	+	2	131	c.96C>G	c.(94-96)ctC>ctG	p.L32L	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	32					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCTCAAGCCTCTCTGGTCTGC	0.627000											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	68					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30873150	30873150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:30873150C>G	ENST00000378933.1	-	3	809	c.632G>C	c.(631-633)aGa>aCa	p.R211T	TAB3_ENST00000378932.2_Missense_Mutation_p.R211T|TAB3_ENST00000378930.3_Missense_Mutation_p.R211T|TAB3_ENST00000288422.2_Missense_Mutation_p.R211T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	211	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTGTAAAGCTCTTGGTACAGT	0.423000													25	52					0	0	1	0	0
GFER	2671	broad.mit.edu	37	16	2034732	2034732	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2034732C>T	ENST00000567719.1	+	1	21	c.18C>T	c.(16-18)gtC>gtT	p.V6V	GFER_ENST00000569451.1_Intron|GFER_ENST00000248114.6_Intron			P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	0					cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						CACTCTCGGTCGGCCTGCTTC	0.662000													10	75					0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54359913	54359913	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:54359913G>A	ENST00000361921.3	+	1	54	c.30G>A	c.(28-30)ctG>ctA	p.L10L	DIO1_ENST00000388876.3_Silent_p.L10L|DIO1_ENST00000525202.1_Silent_p.L10L|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000322679.6_Silent_p.L10L|DIO1_ENST00000534069.1_Intron|DIO1_ENST00000532493.1_Silent_p.L10L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	10					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGCTGTGGCTGAAGAGGCTCT	0.587000													12	48					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74763222	74763222	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74763222G>C	ENST00000264094.3	-	7	1220	c.1149C>G	c.(1147-1149)ctC>ctG	p.L383L	LOXL3_ENST00000393937.2_Silent_p.L238L|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Silent_p.L383L|LOXL3_ENST00000409986.1_Silent_p.L238L	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	383	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GGCACTTCCAGAGGGAGAGCT	0.542000													18	101					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124519389	124519389	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:124519389G>C	ENST00000408936.3	+	4	642	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	DAB2IP_ENST00000259371.2_Missense_Mutation_p.E126Q|DAB2IP_ENST00000309989.1_Missense_Mutation_p.E30Q			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	154	PH.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CATGGAGGAAGAGGTGGTCAT	0.637000													12	37					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33359341	33359341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:33359341G>A	ENST00000334528.9	-	1	744	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	FMN1_ENST00000558197.1_Nonsense_Mutation_p.Q249*|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000559047.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	374	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCGAATTCTGGTTTGTTACT	0.507000													37	80					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17895552	17895552	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:17895552C>G	ENST00000594202.1	+	26	2524	c.2245C>G	c.(2245-2247)Cag>Gag	p.Q749E	FCHO1_ENST00000597512.1_Missense_Mutation_p.Q756E|FCHO1_ENST00000596951.1_Missense_Mutation_p.Q749E|FCHO1_ENST00000539407.1_Missense_Mutation_p.Q749E|FCHO1_ENST00000595033.1_Missense_Mutation_p.Q699E|FCHO1_ENST00000596536.1_Missense_Mutation_p.Q749E|FCHO1_ENST00000600676.1_Missense_Mutation_p.Q749E|FCHO1_ENST00000389133.4_Missense_Mutation_p.Q749E|FCHO1_ENST00000252771.7_Missense_Mutation_p.Q749E	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	749										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCCGGGTCCCCAGTCTGTGCC	0.617000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	72					0	0	1	0	0
PRKX	5613	broad.mit.edu	37	X	3530357	3530357	+	Missense_Mutation	SNP	C	C	T	rs139150166	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:3530357C>T	ENST00000262848.5	-	8	1315	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	321	AGC-kinase C-terminal.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ATCTTGGGCACGATGGGAGGC	0.537000													5	31					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19506422	19506422	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19506422C>A	ENST00000407835.1	+	19	1948	c.1692C>A	c.(1690-1692)ctC>ctA	p.L564L	CDC45_ENST00000437685.2_Silent_p.L596L|CDC45_ENST00000404724.3_Silent_p.L518L|CDC45_ENST00000263201.1_Silent_p.L564L			O75419	CDC45_HUMAN	cell division cycle 45	564					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TTATTTCCCTCCTGTCCTAGG	0.557000													22	66					1.55469e-16	1.76876e-16	1	1	0
AFF1	4299	broad.mit.edu	37	4	88036295	88036295	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:88036295G>A	ENST00000307808.6	+	11	2709	c.2289G>A	c.(2287-2289)gtG>gtA	p.V763V	AFF1_ENST00000395146.4_Silent_p.V770V|AFF1_ENST00000544085.1_Silent_p.V401V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	763						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCTTGATGGTGAAGATCACCC	0.592000													15	61					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193031929	193031929	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:193031929G>A	ENST00000342358.4	-	19	2329	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S	ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	738					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGGCTGCCTGGAGGGATCATT	0.478000													55	107					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73409170	73409170	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:73409170C>T	ENST00000339362.5	+	3	867	c.420C>T	c.(418-420)atC>atT	p.I140I	NEO1_ENST00000560262.1_Silent_p.I140I|NEO1_ENST00000558964.1_Silent_p.I140I|NEO1_ENST00000261908.6_Silent_p.I140I			Q92859	NEO1_HUMAN	neogenin 1	140	Ig-like C2-type 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAACTATTATCAGTAGAACAG	0.333000													19	73					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591695	60591695	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:60591695G>C	ENST00000406854.1	+	9	3360	c.2806G>C	c.(2806-2808)Gac>Cac	p.D936H	PCNXL4_ENST00000317623.4_Missense_Mutation_p.D702H|PCNXL4_ENST00000404681.2_Missense_Mutation_p.D936H|PCNXL4_ENST00000535349.1_Missense_Mutation_p.D143H|PCNXL4_ENST00000406949.1_Missense_Mutation_p.D702H					pecanex-like 4 (Drosophila)																		ATTTCCAGAAGACTGGTACCA	0.413000													31	69					0	0	1	0	0
TMEM55B	90809	broad.mit.edu	37	14	20928361	20928361	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:20928361G>T	ENST00000250489.4	-	3	716	c.430C>A	c.(430-432)Cgg>Agg	p.R144R	TMEM55B_ENST00000398020.4_Silent_p.R151R|TMEM55B_ENST00000554028.1_5'UTR			Q86T03	TM55B_HUMAN	transmembrane protein 55B	144						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CAGTAGGGCCGAGGGCATGCA	0.488000													23	32					4.26978e-12	4.7817e-12	1	1	0
SLC38A10	124565	broad.mit.edu	37	17	79220394	79220394	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:79220394C>T	ENST00000374759.3	-	16	2705	c.2322G>A	c.(2320-2322)gaG>gaA	p.E774E		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	774					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAGGCAGATTCTCCACCGTCT	0.652000													14	70					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964869	32964869	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:32964869G>T	ENST00000321639.5	+	10	2901	c.2573G>T	c.(2572-2574)gGa>gTa	p.G858V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	858						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGGGTGCAAGGAGAGCTGTCG	0.697000													37	30					9.04072e-19	1.03128e-18	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121513587	121513587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:121513587C>G	ENST00000393386.2	+	1	445	c.34C>G	c.(34-36)Cag>Gag	p.Q12E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q12E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	12					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CGCTTGCATTCAGCTCCTCTG	0.617000													9	24					0	0	1	0	0
TAF8	129685	broad.mit.edu	37	6	42019184	42019184	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:42019184G>A	ENST00000372977.3	+	2	153	c.135G>A	c.(133-135)ctG>ctA	p.L45L	TAF8_ENST00000494547.1_Silent_p.L45L|TAF8_ENST00000472818.1_Silent_p.L45L|TAF8_ENST00000372978.3_Silent_p.L45L|TAF8_ENST00000482926.1_3'UTR|TAF8_ENST00000372982.4_Silent_p.L45L|TAF8_ENST00000482432.1_5'UTR|TAF8_ENST00000465926.1_5'UTR|TAF8_ENST00000456846.2_Silent_p.L45L	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	45	Histone-fold.				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			GCTCCTTGCTGACAGAGGCAG	0.532000													24	99					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	25944772	25944772	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:25944772G>A	ENST00000263979.3	+	0	432				MAN1C1_ENST00000374332.4_Missense_Mutation_p.D162N			Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AACGAGGGCCGATGAGAGTCA	0.652000													5	15					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530006	80530006	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:80530006C>T	ENST00000295057.3	-	2	1595	c.939G>A	c.(937-939)ggG>ggA	p.G313G	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.G313G	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	313						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCCACAGGTTCCCGGCCAGGG	0.632000										HNSCC(69;0.2)			18	35					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40818472	40818472	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:40818472C>G	ENST00000251412.7	+	10	1327	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	376					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCAGCGGGCTCATGATGGCCA	0.587000													14	121					0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148575400	148575400	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:148575400G>C	ENST00000322396.6	-	9	1890	c.1648C>G	c.(1648-1650)Cca>Gca	p.P550A	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.P437A	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	550						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AGTTTCTCTGGAGTCAGTGAA	0.388000													31	95					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628033	33628033	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:33628033C>G	ENST00000380099.3	+	2	957	c.949C>G	c.(949-951)Caa>Gaa	p.Q317E	KL_ENST00000426690.2_Missense_Mutation_p.Q10E|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	317	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CAAAGAATGTCAAAAATCTCT	0.453000													61	125					0	0	1	0	0
SEPT11	55752	broad.mit.edu	37	4	77933056	77933056	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77933056G>C	ENST00000264893.6	+	4	708	c.507G>C	c.(505-507)atG>atC	p.M169I	SEPT11_ENST00000505788.1_Missense_Mutation_p.M169I|SEPT11_ENST00000510515.1_Missense_Mutation_p.M179I|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000502584.1_Missense_Mutation_p.M169I|SEPT11_ENST00000541121.1_Missense_Mutation_p.M179I	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	169					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TGGTCACCATGAAAAAGCTGG	0.433000													12	74					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34189480	34189480	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:34189480C>A	ENST00000435224.2	-	6	2047	c.1623G>T	c.(1621-1623)ttG>ttT	p.L541F	ABTB2_ENST00000298992.2_Missense_Mutation_p.L355F	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	355							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)				CAGCATCAATCAACATCTGGA	0.562000													3	16					0.004672	0.0047419	1	1	0
TCEAL1	9338	broad.mit.edu	37	X	102885010	102885010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:102885010G>A	ENST00000372625.3	+	3	330	c.166G>A	c.(166-168)Gag>Aag	p.E56K	TCEAL1_ENST00000372626.3_Missense_Mutation_p.E56K|TCEAL1_ENST00000469820.1_3'UTR|TCEAL1_ENST00000372624.3_Missense_Mutation_p.E56K	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	54	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTCTTGCCTGAGCTCCTGCC	0.642000													11	30					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4877927	4877927	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:4877927C>G	ENST00000298375.7	+	4	456	c.385C>G	c.(385-387)Cga>Gga	p.R129G	AKR1E2_ENST00000334019.4_Missense_Mutation_p.R129G|AKR1E2_ENST00000345253.5_Missense_Mutation_p.R129G|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000532248.1_Missense_Mutation_p.R129G	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	129						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.R129*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTCACATCCTCGAGTGCAGGA	0.527000													18	59					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30576867	30576867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:30576867C>T	ENST00000376511.2	-	4	733	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	61	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ACCAATATTTCTGGTGAACGG	0.483000													14	56					0	0	1	0	0
SRGAP2B	647135	broad.mit.edu	37	1	144044056	144044056	+	RNA	SNP	C	C	T	rs6600677	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:144044056C>T	ENST00000467933.1	+	0	1108																											TCTTCAGCTTCTTCAAGGTAT	0.517000													10	56					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101586144	101586144	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:101586144C>G	ENST00000311812.2	-	14	1422	c.1272G>C	c.(1270-1272)aaG>aaC	p.K424N	SNX31_ENST00000428383.2_Missense_Mutation_p.K325N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	424					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTTTAGCTATCTTAATCTTGC	0.338000													15	250					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117859132	117859132	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:117859132G>C	ENST00000227752.3	+	2	223	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.E15Q|IL10RA_ENST00000545409.1_5'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	35						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGTGTGGTTTGAAGCAGAATT	0.542000													30	110					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10385665	10385665	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:10385665G>C	ENST00000264832.3	+	2	617	c.292G>C	c.(292-294)Gat>Cat	p.D98H	ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	98	Ig-like C2-type 1.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AAACTGCCCTGATGGGCAGTC	0.542000													29	128					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87536669	87536669	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:87536669G>C	ENST00000265728.1	+	12	1720	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	406					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CCAGGAAACTGAAAAAAAGCT	0.383000													12	84					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	88999546	88999546	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:88999546G>C	ENST00000283646.4	+	3	421	c.366G>C	c.(364-366)gaG>gaC	p.E122D		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	122					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TGAAGCAAGAGAATCTGAACC	0.453000													11	95					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381565	108381565	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:108381565C>G	ENST00000265843.4	-	6	4779	c.4669G>C	c.(4669-4671)Gat>Cat	p.D1557H	EXPH5_ENST00000428840.1_Missense_Mutation_p.D1481H|EXPH5_ENST00000525344.1_Missense_Mutation_p.D1550H|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1369H	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1557					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGCATTTCATCTTCAGCCTTC	0.418000													21	117					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111019659	111019659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:111019659G>A	ENST00000262839.2	-	11	3722	c.2804C>T	c.(2803-2805)tCa>tTa	p.S935L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	935					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTAGAATTTGAGGAGCAGAT	0.483000													7	52					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36483085	36483085	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:36483085G>A	ENST00000342292.4	-	11	6387	c.6367C>T	c.(6367-6369)Ccc>Tcc	p.P2123S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2123						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGCAGAGGGAGCCTCTACC	0.572000													21	108					0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125270804	125270804	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:125270804C>G	ENST00000415380.2	-	11	1625	c.1500G>C	c.(1498-1500)tgG>tgC	p.W500C	SCARB1_ENST00000544327.1_Missense_Mutation_p.W446C|SCARB1_ENST00000261693.6_Intron|SCARB1_ENST00000540495.1_Missense_Mutation_p.W463C|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000541205.1_Missense_Mutation_p.W459C|SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000535005.1_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	500					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GAGGTGGGCTCCAGGCTGCGG	0.672000													8	34					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932201	79932201	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:79932201C>G	ENST00000373275.4	-	41	5532	c.5316G>C	c.(5314-5316)gaG>gaC	p.E1772D		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1772										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						TCAGAGGATCCTCAGTGGACA	0.398000													10	52					0	0	1	0	0
LZTFL1	54585	broad.mit.edu	37	3	45872601	45872601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:45872601C>G	ENST00000296135.6	-	6	660	c.486G>C	c.(484-486)gaG>gaC	p.E162D	LZTFL1_ENST00000536047.1_Missense_Mutation_p.E145D|LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Missense_Mutation_p.E158D	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	162										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACTTCAATTTCTCATTCTCTT	0.254000													6	31					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045894	76045894	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:76045894C>T	ENST00000238667.4	+	1	935	c.579C>T	c.(577-579)ttC>ttT	p.F193F	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	193					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.F193F(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGGTTTTCATCCTGGGCA	0.602000													54	63					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33953812	33953812	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:33953812G>A	ENST00000262325.7	+	7	1442	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	AP2B1_ENST00000592545.1_Missense_Mutation_p.E259K|AP2B1_ENST00000538556.1_Missense_Mutation_p.E240K|AP2B1_ENST00000537622.2_Missense_Mutation_p.E297K|AP2B1_ENST00000312678.8_Missense_Mutation_p.E297K|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.E297K	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	297					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGGGAGCCAGAAGTGCAGTA	0.408000													38	226					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33411122	33411122	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:33411122C>T	ENST00000418600.2	+	15	2894	c.2793C>T	c.(2791-2793)ctC>ctT	p.L931L	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.L931L|SYNGAP1_ENST00000428982.2_Silent_p.L872L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	931					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AGAACCCTCTCTTCCACATGG	0.662000													37	210					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150676602	150676602	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150676602G>C	ENST00000368993.2	-	12	1045	c.940C>G	c.(940-942)Cat>Gat	p.H314D	HORMAD1_ENST00000322343.7_Missense_Mutation_p.H307D|HORMAD1_ENST00000361824.2_Missense_Mutation_p.H314D|HORMAD1_ENST00000368995.4_Missense_Mutation_p.H234D			Q86X24	HORM1_HUMAN	HORMA domain containing 1	314					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACCTGAGAATGAGAAATAGAA	0.308000													13	10					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186947621	186947621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:186947621C>G	ENST00000337774.5	-	11	1757	c.1368G>C	c.(1366-1368)caG>caC	p.Q456H		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	456	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGTGCCTTTCTGGGCTGGGC	0.597000													11	38					0	0	1	0	0
SDHD	6392	broad.mit.edu	37	11	111965691	111965691	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:111965691C>G	ENST00000375549.3	+	4	612	c.477C>G	c.(475-477)ctC>ctG	p.L159L	SDHD_ENST00000525291.1_Silent_p.L120L|SDHD_ENST00000528048.1_3'UTR|SDHD_ENST00000528182.1_3'UTR|SDHD_ENST00000528021.1_Intron|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000526592.1_3'UTR	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	159					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	TGTGGAAGCTCTGACCTTTTT	0.423000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				24	66					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259021	150259021	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150259021C>T	ENST00000290363.5	+	5	1262	c.813C>T	c.(811-813)ctC>ctT	p.L271L	C1orf51_ENST00000369094.1_Silent_p.L183L|C1orf51_ENST00000369095.1_Silent_p.L271L	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	271										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCCCTCTCAGCTCCCCAG	0.527000													16	185					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586977	86586977	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:86586977C>G	ENST00000376263.3	-	11	996	c.773G>C	c.(772-774)aGa>aCa	p.R258T	HNRNPK_ENST00000376264.2_Missense_Mutation_p.R258T|HNRNPK_ENST00000351839.3_Missense_Mutation_p.R258T|HNRNPK_ENST00000376281.4_Missense_Mutation_p.R258T|HNRNPK_ENST00000360384.5_Missense_Mutation_p.R258T	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	258	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Necessary for interaction with DDX1.|RNA-binding RGG-box.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AAAACCACCTCTTCCCCGCAT	0.507000													8	69					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76412689	76412689	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:76412689G>C	ENST00000370014.3	+	19	3236	c.2617G>C	c.(2617-2619)Gaa>Caa	p.E873Q	SENP6_ENST00000541192.1_Intron|SENP6_ENST00000447266.2_Missense_Mutation_p.E873Q|SENP6_ENST00000370010.2_Missense_Mutation_p.E866Q	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	873	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TGAAAATGAAGAATTCAATAA	0.368000													46	153					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201129	24201129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:24201129C>A	ENST00000536471.1	-	3	1237	c.979G>T	c.(979-981)Gag>Tag	p.E327*	CNR2_ENST00000374472.4_Nonsense_Mutation_p.E327*			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	327					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TCTTTTGCCTCTGACCCAAGG	0.552000													9	105					0.000308642	0.000319037	1	1	0
TNFRSF18	8784	broad.mit.edu	37	1	1138988	1138988	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:1138988C>T	ENST00000328596.6	-	4	750	c.751G>A	c.(751-753)Gat>Aat	p.D251N	TNFRSF18_ENST00000379268.2_3'UTR	NM_148901.1	NP_683699.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	0					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	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)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCACCCCATCAGGGCCAGCA	0.657000													3	11					0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34647665	34647665	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:34647665C>T	ENST00000378842.3	+	4	382	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	114			H -> L (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ACCCAGTGATCATCCCCTTTT	0.517000									Galactosemia				6	31					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16552976	16552976	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:16552976C>G	ENST00000311331.7	-	2	174	c.83G>C	c.(82-84)cGc>cCc	p.R28P		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ACTTACCAGGCGTCCAACTGA	0.468000													4	28					0	0	1	0	0
ACOT2	10965	broad.mit.edu	37	14	74036029	74036029	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:74036029C>G	ENST00000238651.5	+	1	267	c.85C>G	c.(85-87)Cga>Gga	p.R29G	ACOT2_ENST00000538782.1_5'UTR	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	29					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TGCTGTCCTTCGAGCGTCCCG	0.557000													63	56					0	0	1	0	0
AQP11	282679	broad.mit.edu	37	11	77301476	77301476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:77301476C>T	ENST00000313578.3	+	1	797	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	147						cell surface|integral to membrane	transporter activity	p.H147Y(1)		kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GACCCAGTATCACGTCAGCGA	0.592000													30	54					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44538206	44538206	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44538206G>A	ENST00000477313.1	-	4	1028	c.434C>T	c.(433-435)tCc>tTc	p.S145F	PLTP_ENST00000372420.1_Missense_Mutation_p.S57F|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372431.3_Missense_Mutation_p.S145F|PLTP_ENST00000542937.1_Missense_Mutation_p.S165F			P55058	PLTP_HUMAN	phospholipid transfer protein	145					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GGCCTGGCAGGAGACATTGGA	0.622000													17	130					0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91055005	91055005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:91055005C>T	ENST00000522161.1	+	9	1371	c.688C>T	c.(688-690)Caa>Taa	p.Q230*	DECR1_ENST00000220764.2_Nonsense_Mutation_p.Q239*			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	239					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CAATGTGATTCAACCAGGGCC	0.308000													18	175					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232146826	232146826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:232146826C>T	ENST00000349938.4	+	17	1800	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	536							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCCATCCATTCGTGAGGAAGC	0.428000													23	76					0	0	1	0	0
CALHM2	51063	broad.mit.edu	37	10	105207100	105207100	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:105207100C>T	ENST00000260743.5	-	4	1304	c.781G>A	c.(781-783)Gag>Aag	p.E261K	CALHM2_ENST00000369788.3_Missense_Mutation_p.E261K	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	261						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ATCAGTTCCTCATCATCCTTG	0.607000													13	67					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583714	47583714	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:47583714G>C	ENST00000172229.3	+	3	387	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	NGFR_ENST00000504201.1_5'UTR|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	88					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCGTGCACCGAGTGCGTGGG	0.672000													7	46					0	0	1	0	0
HMCES	56941	broad.mit.edu	37	3	129007759	129007759	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:129007759C>T	ENST00000383463.4	+	3	335	c.246C>T	c.(244-246)ttC>ttT	p.F82F	HMCES_ENST00000417226.2_Silent_p.F82F|HMCES_ENST00000502878.2_Silent_p.F82F|HMCES_ENST00000389735.3_Silent_p.F82F	NM_020187.2	NP_064572.2			5-hydroxymethylcytosine (hmC) binding, ES cell-specific	82																	CTTCTTGGTTCAAAGAAAGTG	0.478000													9	69					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2012818	2012818	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2012818G>A	ENST00000529806.1	-	3	564	c.378C>T	c.(376-378)atC>atT	p.I126I	RPS2_ENST00000530225.1_Silent_p.I156I|RPS2_ENST00000526522.1_Intron|RPS2_ENST00000343262.4_Silent_p.I156I			P15880	RS2_HUMAN	ribosomal protein S2	156	S5 DRBM.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GCTTGGCCAGGATGATGGCCC	0.607000													8	38					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806767	143806767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143806767C>T	ENST00000408979.2	+	1	161	c.92C>T	c.(91-93)tCt>tTt	p.S31F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGACTCTTCTCTGTCTTCTAT	0.517000													19	126					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46768814	46768814	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46768814G>A	ENST00000343304.6	-	1	466	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	61										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CCGCTCTCCAGAACCCCCATA	0.766000													3	3					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34034982	34034982	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:34034982C>G	ENST00000373381.4	-	52	8299	c.8123G>C	c.(8122-8124)cGc>cCc	p.R2708P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2710	Sushi 17.					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)				ACCAAGGCAGCGGACTTCAGA	0.522000													11	44					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992744	42992744	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:42992744G>C	ENST00000253408.5	-	1	176	c.111C>G	c.(109-111)ctC>ctG	p.L37L	GFAP_ENST00000435360.2_Silent_p.L37L|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Silent_p.L37L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	37	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GAGCCAGGGAGAGGCGGGTGC	0.692000													11	21					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73042163	73042163	+	RNA	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:73042163C>T	ENST00000604411.1	+	0	30124				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGAAGAGATACGGAGTAGGAA	0.428000													3	27					0	0	1	0	0
BOLA1	51027	broad.mit.edu	37	1	149871751	149871751	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:149871751G>T	ENST00000369153.2	+	3	803	c.139G>T	c.(139-141)Gag>Tag	p.E47*	BOLA1_ENST00000369150.1_Nonsense_Mutation_p.E47*|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Nonsense_Mutation_p.E47*			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	47						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTGAGCCCCGAGGTGCTAGA	0.677000													8	59					1.12685e-05	1.18283e-05	1	1	0
MICAL1	64780	broad.mit.edu	37	6	109769984	109769984	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:109769984C>A	ENST00000368952.4	-	12	1962	c.1672G>T	c.(1672-1674)Gat>Tat	p.D558Y	MICAL1_ENST00000358807.3_Missense_Mutation_p.D539Y|MICAL1_ENST00000358577.3_Missense_Mutation_p.D453Y			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	539	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCTAGCCCATCAGCCCAGGAG	0.622000													35	140					8.53417e-09	9.31461e-09	1	1	0
NUP88	4927	broad.mit.edu	37	17	5289552	5289552	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:5289552C>T	ENST00000573584.1	-	17	2709	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	734					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTGCGGATATCATTGATTTGC	0.363000													18	110					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12946138	12946138	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:12946138G>A	ENST00000276297.4	-	16	4559	c.4150C>T	c.(4150-4152)Cgc>Tgc	p.R1384C	DLC1_ENST00000358919.2_Missense_Mutation_p.R947C|DLC1_ENST00000520226.1_Missense_Mutation_p.R873C|DLC1_ENST00000512044.2_Missense_Mutation_p.R981C|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1384	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTAAGTAGGCGCTTTAAGATT	0.453000													25	71					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31021535	31021535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:31021535C>T	ENST00000375687.4	+	12	1958	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.Q507*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	512					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TAGCCTGCCTCAGGAAACTGT	0.547000			"""F, N, Mis"""		"""MDS, CMML"""								34	167					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58288742	58288742	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:58288742G>C	ENST00000300896.4	-	20	2507	c.2313C>G	c.(2311-2313)ctC>ctG	p.L771L	USP32_ENST00000592339.1_Silent_p.L441L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	771					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTACCTGTTGAGTTCATAAA	0.408000													20	313					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86035736	86035736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:86035736G>A	ENST00000414626.2	+	6	1848	c.959G>A	c.(958-960)aGa>aAa	p.R320K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R340K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	340					cell division|mitosis	centriole|nucleus		p.R340I(1)|p.R320I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TATGGAAACAGAAAAGAATGC	0.318000													24	193					0	0	1	0	0
GPN1	11321	broad.mit.edu	37	2	27864120	27864120	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27864120G>A	ENST00000264718.3	+	11	877	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	GPN1_ENST00000503738.1_Missense_Mutation_p.E177K|GPN1_ENST00000610189.1_Missense_Mutation_p.E272K|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.E177K|GPN1_ENST00000407583.3_Missense_Mutation_p.E260K|GPN1_ENST00000424214.1_Missense_Mutation_p.E193K|GPN1_ENST00000515877.1_Missense_Mutation_p.E193K			Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	272						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						GTATCGTCCTGAATATGAACG	0.373000													29	61					0	0	1	0	0
TYW3	127253	broad.mit.edu	37	1	75198988	75198988	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:75198988C>T	ENST00000370867.3	+	1	149	c.60C>T	c.(58-60)ctC>ctT	p.L20L	TYW3_ENST00000479111.1_5'UTR|TYW3_ENST00000457880.2_Silent_p.L20L|TYW3_ENST00000421739.2_Silent_p.L20L|CRYZ_ENST00000417775.1_5'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	20					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						AAGCGGACCTCAGCCGGAAGG	0.572000													11	27					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221041	47221041	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:47221041C>G	ENST00000296861.2	-	4	1853	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	487	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			AACATCGTTTCTCCGGTGCTG	0.617000													4	18					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200954093	200954093	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200954093C>T	ENST00000332129.2	-	27	4013	c.3697G>A	c.(3697-3699)Gat>Aat	p.D1233N	KIF21B_ENST00000422435.2_Missense_Mutation_p.D1233N|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1233N|KIF21B_ENST00000360529.5_Missense_Mutation_p.D1233N	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1233					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AATCCCACATCTGTGGACCTG	0.612000													8	40					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5347829	5347829	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:5347829G>C	ENST00000225296.3	-	12	2020	c.1820C>G	c.(1819-1821)tCa>tGa	p.S607*	DHX33_ENST00000433302.3_Nonsense_Mutation_p.S383*	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	607						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GATTGGCATTGACATCTGTTT	0.597000													7	27					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122622425	122622425	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:122622425G>A	ENST00000263461.6	+	5	951	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	235						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TCACTCAAGAGAAACCTAGGT	0.368000													25	39					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50047084	50047084	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:50047084C>G	ENST00000335154.5	-	13	1481	c.1248G>C	c.(1246-1248)gaG>gaC	p.E416D	FMNL3_ENST00000352151.5_Missense_Mutation_p.E365D|FMNL3_ENST00000550488.1_Missense_Mutation_p.E416D|FMNL3_ENST00000293590.5_Missense_Mutation_p.E416D	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	416	GBD/FH3.				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						TGTTTTCATTCTCTAGGTCCA	0.532000													25	128					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16653184	16653184	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16653184C>G	ENST00000546361.2	-	1	157	c.6G>C	c.(4-6)gaG>gaC	p.E2D	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.E2D	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	2					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GCAGCGGCATCTCCATGGCTC	0.711000													3	12					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203831746	203831746	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:203831746A>G	ENST00000402905.3	+	9	1199	c.878A>G	c.(877-879)aAa>aGa	p.K293R	CARF_ENST00000428585.1_Missense_Mutation_p.K217R|CARF_ENST00000414439.1_Missense_Mutation_p.K191R|CARF_ENST00000320443.8_Missense_Mutation_p.K293R|CARF_ENST00000438828.2_Missense_Mutation_p.K293R|CARF_ENST00000545253.1_Missense_Mutation_p.K205R|CARF_ENST00000545262.1_Missense_Mutation_p.K217R|CARF_ENST00000456821.2_3'UTR|WDR12_ENST00000477723.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		CCAAGAAGAAAAGGTTTCCAG	0.408000													23	122					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135947125	135947125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:135947125C>T	ENST00000372080.4	+	11	2261	c.2245C>T	c.(2245-2247)Cag>Tag	p.Q749*	CEL_ENST00000351304.7_Nonsense_Mutation_p.Q680*	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	746					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAAGGAAGCTCAGATGCCTGC	0.647000													5	38					0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3284910	3284910	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3284910G>C	ENST00000541430.2	+	9	1011	c.975G>C	c.(973-975)ccG>ccC	p.P325P	CELF5_ENST00000588101.1_3'UTR|CELF5_ENST00000292672.2_Silent_p.P350P	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	350					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CTCAGAGCCCGACTGTGGCCG	0.677000													5	12					0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198358196	198358196	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198358196C>A	ENST00000388968.3	-	7	988	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	HSPD1_ENST00000345042.2_Missense_Mutation_p.D241Y	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	241					'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)			ACATAGGCATCCTGGAATTCA	0.343000													17	50					5.01169e-05	5.23507e-05	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104433061	104433061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:104433061C>G	ENST00000361820.3	-	3	2233	c.1633G>C	c.(1633-1635)Gac>Cac	p.D545H		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	545					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTCATGGGGTCTAGACAGAGT	0.463000													22	77					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103286425	103286425	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:103286425G>A	ENST00000376052.3	+	11	1386	c.1370G>A	c.(1369-1371)gGa>gAa	p.G457E	TPP2_ENST00000376065.4_Missense_Mutation_p.G457E			P29144	TPP2_HUMAN	tripeptidyl peptidase II	457					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGCATGTGGAGGCATTGCC	0.453000													21	73					0	0	1	0	0
FBXL19	54620	broad.mit.edu	37	16	30953717	30953717	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30953717C>G	ENST00000338343.4	+	9	1874	c.1487C>G	c.(1486-1488)tCt>tGt	p.S496C	FBXL19_ENST00000565690.1_Missense_Mutation_p.S380C|FBXL19_ENST00000380310.2_Missense_Mutation_p.S516C|FBXL19_ENST00000471231.2_Missense_Mutation_p.S204C|FBXL19_ENST00000562319.1_Missense_Mutation_p.S496C			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	516							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTGGTGCTCTCTGGCTGCTCC	0.662000											OREG0023741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	16					0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	5999356	5999356	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:5999356C>T	ENST00000244766.2	-	3	499	c.282G>A	c.(280-282)ctG>ctA	p.L94L	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	94						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		ATTCTTTTCTCAGTTTATCCC	0.562000													6	43					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1775286	1775286	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1775286G>C	ENST00000236671.2	-	7	1042	c.910C>G	c.(910-912)Ccg>Gcg	p.P304A	RP11-295K3.1_ENST00000427721.1_Silent_p.A174A	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	304					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCATCCACCGGGCCCACCATG	0.711000													6	22					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95618484	95618484	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:95618484C>G	ENST00000395505.2	-	1	116	c.24G>C	c.(22-24)ttG>ttC	p.L8F	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.L44F|ZNF484_ENST00000332591.6_Missense_Mutation_p.L8F|ZNF484_ENST00000395506.3_Missense_Mutation_p.L46F	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CCACTGAGATCAAGTTGAAAT	0.428000													15	110					0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153207433	153207433	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:153207433G>T	ENST00000393700.3	-	7	819	c.739C>A	c.(739-741)Cct>Act	p.P247T	RENBP_ENST00000369997.3_Missense_Mutation_p.P233T|RENBP_ENST00000412763.1_Intron	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	247					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AGGCAGCCAGGAAGTTCCTTG	0.632000													39	80					1.30475e-32	1.50836e-32	1	1	0
C7orf43	55262	broad.mit.edu	37	7	99755503	99755503	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99755503G>A	ENST00000316937.3	-	2	655	c.470C>T	c.(469-471)tCa>tTa	p.S157L	C7orf43_ENST00000457641.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	157										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTATCCAGTGAAACGGTGAG	0.537000													22	37					0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70363869	70363869	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70363869C>T	ENST00000288071.6	+	9	1166	c.921C>T	c.(919-921)atC>atT	p.I307I	RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563206.1_Silent_p.I312I|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000355992.3_Silent_p.I276I|DDX19B_ENST00000563392.1_Silent_p.I198I|DDX19B_ENST00000568625.1_Silent_p.I198I|DDX19B_ENST00000451014.3_Silent_p.I281I|DDX19B_ENST00000393657.2_Silent_p.I198I	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	307	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TGGACACCATCAAGCAGTACT	0.527000													29	162					0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31722980	31722980	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:31722980G>T	ENST00000266269.5	-	5	2590	c.1961C>A	c.(1960-1962)tCt>tAt	p.S654Y	PATZ1_ENST00000351933.4_Missense_Mutation_p.S608Y|PATZ1_ENST00000405309.3_3'UTR|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	654					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CTCGAGGAGAGACATGTTCTG	0.567000													21	79					2.27731e-05	2.38654e-05	1	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698393	111698393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:111698393C>G	ENST00000340433.2	+	1	667	c.437C>G	c.(436-438)cCt>cGt	p.P146R		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	146							nucleic acid binding|zinc ion binding	p.P146L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAAATCAATCCTCTGATGAAT	0.418000													16	127					0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113887597	113887597	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:113887597G>A	ENST00000451881.1	+	6	568	c.319G>A	c.(319-321)Gag>Aag	p.E107K	CUL4A_ENST00000375440.4_Missense_Mutation_p.E207K|CUL4A_ENST00000375441.3_Missense_Mutation_p.E107K|CUL4A_ENST00000326335.4_Missense_Mutation_p.E107K	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	207					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GAGGAGCGGCGAGGCCGTGGA	0.542000													10	57					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53062372	53062372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:53062372G>A	ENST00000276480.7	-	16	2655	c.1972C>T	c.(1972-1974)Cag>Tag	p.Q658*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	658						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAAAGAGCCTGATAGAATGCT	0.458000													12	56					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52375790	52375790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:52375790C>A	ENST00000420592.1	-	6	2609	c.1276G>T	c.(1276-1278)Gaa>Taa	p.E426*	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.E426*|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Nonsense_Mutation_p.E485*			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAGATTTATTCTGATACAATA	0.373000													5	18					0.014758	0.01492	1	1	0
KIAA0754	643314	broad.mit.edu	37	1	39876688	39876688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:39876688G>A	ENST00000530275.1	+	1	538	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	115										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTAATGCAGGAATCCAGATT	0.502000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	37					0	0	1	0	0
AC105399.2	0	broad.mit.edu	37	2	78020197	78020199	+	RNA	DEL	TCC	TCC	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:78020197_78020199delTCC	ENST00000422418.1	+	0	402_404																											ATACTAAAAATCCTaaaaaaaaa	0.320													5	7	---	---	---	---					
SLC35B2	347734	broad.mit.edu	37	6	44222852	44222856	+	Frame_Shift_Del	DEL	ATCTT	ATCTT	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:44222852_44222856delATCTT	ENST00000393812.3	-	4	1029_1033	c.886_890delAAGAT	c.(886-891)aagatgfs	p.KM296fs	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Frame_Shift_Del_p.KM163fs|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Frame_Shift_Del_p.KM203fs	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	296					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCGATGACATCTTATAGGCAAAC	0.532													7	55	---	---	---	---					
MIPEP	4285	broad.mit.edu	37	13	24460591	24460591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24460591delC	ENST00000382172.3	-	2	342	c.244delG	c.(244-246)gaafs	p.E82fs	MIPEP_ENST00000469167.1_5'UTR	NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	82					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAGGCTTTTTCTTGTGCAATA	0.453													21	101	---	---	---	---					
IRS2	8660	broad.mit.edu	37	13	110435129	110435129	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:110435129delG	ENST00000375856.3	-	1	3786	c.3272delC	c.(3271-3273)ccgfs	p.P1091fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1091					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TTCTGGCTTCGGGGGGGCCGC	0.682													3	5	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409517	22409518	+	RNA	INS	-	-	TC	rs72211574	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:22409517_22409518insTC	ENST00000390441.2	+	0	102																											GGCTAAACAGAtctctctctct	0.411													5	5	---	---	---	---					
NIFKP6	100132796	broad.mit.edu	37	19	51906669	51906670	+	RNA	INS	-	-	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:51906669_51906670insT	ENST00000600765.1	+	0	324_325																											GGTTGTTCTTGTTTTTTTTGCT	0.446													12	87	---	---	---	---					
HUWE1	10075	broad.mit.edu	37	X	53655540	53655540	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:53655540delA	ENST00000342160.3	-	14	1603	c.1146delT	c.(1144-1146)tttfs	p.F382fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.F382fs|HUWE1_ENST00000218328.8_Frame_Shift_Del_p.F382fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	382					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						GAGCAGTGGCAAACTGGTGAG	0.478													3	4	---	---	---	---