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
ZNF217	7764	broad.mit.edu	37	20	52188372	52188372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr20:52188372G>A	ENST00000371471.2	-	5	3483	c.3058C>T	c.(3058-3060)Caa>Taa	p.Q1020*	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Nonsense_Mutation_p.Q1020*			O75362	ZN217_HUMAN	zinc finger protein 217	1020					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GATAAGTGTTGATATGACACA	0.299000													29	82					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125558471	125558471	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:125558471C>T	ENST00000316519.6	+	2	389	c.183C>T	c.(181-183)ttC>ttT	p.F61F	AACS_ENST00000261686.6_Silent_p.F61F	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	61					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATTCAGACTTCTGGGCAGAGT	0.403000													27	64					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484560	45484560	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:45484560C>A	ENST00000359600.5	-	14	3329	c.3124G>T	c.(3124-3126)Gtg>Ttg	p.V1042L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1042							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCCCAGAGCACATCATTGATG	0.572000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	30					5.18039e-06	5.42639e-06	1	1	0
SULT1B1	27284	broad.mit.edu	37	4	70615504	70615504	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:70615504G>A	ENST00000310613.3	-	4	607	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.R104W(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTCACAATCCGGGGTGATGGA	0.378000													17	48					0	0	1	0	0
DCTN2	10540	broad.mit.edu	37	12	57927804	57927804	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:57927804C>T	ENST00000548249.1	-	7	868	c.601G>A	c.(601-603)Gat>Aat	p.D201N	DCTN2_ENST00000537439.1_Missense_Mutation_p.D178N|DCTN2_ENST00000434715.3_Missense_Mutation_p.D206N|DCTN2_ENST00000543672.1_Missense_Mutation_p.D206N	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	201					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						AGGCTGCTATCTGGGGGGGTC	0.507000													13	34					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121726122	121726122	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:121726122C>T	ENST00000393376.1	-	18	2223	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.E710K			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	710	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCATAAATCTCAGCATATTTC	0.428000													16	59					0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56289744	56289744	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:56289744C>G	ENST00000393119.2	-	9	984	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	MKS1_ENST00000537529.2_Missense_Mutation_p.E294Q|MKS1_ENST00000337050.7_Missense_Mutation_p.E304Q|MKS1_ENST00000313863.6_Missense_Mutation_p.E304Q|MKS1_ENST00000546108.1_Missense_Mutation_p.E101Q	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	304					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCACCATCTCAAAGTCGGTG	0.502000													13	46					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170048422	170048422	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:170048422C>G	ENST00000263816.3	-	48	9237	c.8952G>C	c.(8950-8952)gaG>gaC	p.E2984D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2984	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATTCTGATTCTCATCGTAGC	0.473000													21	14					0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184368494	184368494	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:184368494G>A	ENST00000504169.1	+	3	1864	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	553					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAGAGGCAGTGAAATAGAAGA	0.348000													28	70					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344550	53344550	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:53344550C>T	ENST00000595646.1	-	4	1117	c.997G>A	c.(997-999)Gat>Aat	p.D333N	ZNF468_ENST00000396409.4_Missense_Mutation_p.D280N|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.D280N|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AAAGCCTCATCACAAACCTTA	0.358000													32	160					0	0	1	0	0
DGCR6	8214	broad.mit.edu	37	22	18898504	18898504	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr22:18898504C>T	ENST00000331444.6	+	4	628	c.476C>T	c.(475-477)gCg>gTg	p.A159V	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_Missense_Mutation_p.A23V	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	159					cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						CTGGAGAAGGCGGGGGTGGCT	0.647000													6	8					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220935151	220935151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:220935151C>T	ENST00000366913.3	+	3	796	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	MARC2_ENST00000359316.2_Nonsense_Mutation_p.Q200*	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	200	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CACTCTTGATCAGAATTTCCA	0.428000													31	46					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110839556	110839556	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr13:110839556C>T	ENST00000375820.4	-	25	1778	c.1657G>A	c.(1657-1659)Ggc>Agc	p.G553S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	553	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGTCATGCCGGGCTGTCCT	0.582000													50	29					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35021879	35021879	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:35021879G>A	ENST00000360359.3	+	12	2152	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	672						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATTTCAGATTGAGAAAATCAT	0.488000													5	27					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34220269	34220269	+	Silent	SNP	C	C	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr20:34220269C>A	ENST00000317619.3	-	6	742	c.348G>T	c.(346-348)ctG>ctT	p.L116L	CPNE1_ENST00000397445.1_Silent_p.L116L|CPNE1_ENST00000397443.1_Silent_p.L116L|CPNE1_ENST00000397442.1_Silent_p.L116L|CPNE1_ENST00000397446.1_Silent_p.L116L|CPNE1_ENST00000352393.4_Silent_p.L116L|RP1-309K20.6_ENST00000541176.2_3'UTR|CPNE1_ENST00000317677.5_Silent_p.L121L			Q99829	CPNE1_HUMAN	copine I	116					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTCCAGGCTTCAGCATCAAGG	0.542000													10	13					1.49906e-05	1.54861e-05	1	1	0
FASTKD2	22868	broad.mit.edu	37	2	207636720	207636720	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:207636720G>A	ENST00000236980.6	+	5	1441	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	FASTKD2_ENST00000402774.3_Missense_Mutation_p.E365K|FASTKD2_ENST00000403094.3_Missense_Mutation_p.E365K	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	365					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		ACTCCTGGATGAATGCAGTAA	0.358000													16	59					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806089	1806089	+	Missense_Mutation	SNP	G	G	T	rs121913479		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:1806089G>T	ENST00000340107.4	+	9	1370	c.1114G>T	c.(1114-1116)Ggc>Tgc	p.G372C	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.G370C|FGFR3_ENST00000481110.2_Missense_Mutation_p.G370C|FGFR3_ENST00000440486.2_Missense_Mutation_p.G370C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	370					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G370C(108)|p.A369_G370>VC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGACGAGGCGGGCAGTGTGTA	0.687000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				125	86					4.21061e-56	4.65775e-56	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152652535	152652535	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:152652535C>T	ENST00000367255.5	-	78	13886	c.13285G>A	c.(13285-13287)Gat>Aat	p.D4429N	SYNE1_ENST00000448038.1_Missense_Mutation_p.D4358N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D4358N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D4429N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D4294N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4429					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)		CTTTGTGCATCAGAGAGAGCC	0.493000										HNSCC(10;0.0054)			6	52					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	C	rs104886003		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:178936091G>C	ENST00000263967.3	+	10	1790	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q		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)			15	21					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231135344	231135344	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:231135344G>C	ENST00000392045.3	+	15	1602	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N	SP140_ENST00000420434.3_Missense_Mutation_p.K469N|SP140_ENST00000343805.6_Missense_Mutation_p.K436N|SP140_ENST00000350136.5_Missense_Mutation_p.K365N|SP140_ENST00000486687.2_Missense_Mutation_p.K420N|SP140_ENST00000417495.3_Missense_Mutation_p.K382N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	496					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAAACCCAAGAGGAAAAGAA	0.289000													13	32					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47777197	47777197	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr18:47777197C>A	ENST00000398545.4	-	5	1044	c.927G>T	c.(925-927)ttG>ttT	p.L309F		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	309										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCTTCATGTTCAAGTCCTGTT	0.423000													66	248					3.61678e-42	3.9891e-42	1	1	0
TIMM8A	1678	broad.mit.edu	37	X	100601508	100601508	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:100601508G>A	ENST00000372902.3	-	2	804	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_004085.3	NP_004076.1	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8 homolog A (yeast)	91					nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding			endometrium(1)|lung(1)	2						GGCTTTCTGAGAAAACTGGCT	0.443000													49	74					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651487	8651487	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:8651487C>G	ENST00000270328.4	-	19	2624	c.2358G>C	c.(2356-2358)caG>caC	p.Q786H	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.Q786H|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.Q273H			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	786	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTTCGAGGCTCTGGACCTGGT	0.612000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	58					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110882650	110882650	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:110882650C>T	ENST00000369784.3	+	1	1523	c.623C>T	c.(622-624)tCg>tTg	p.S208L	RBM15_ENST00000602849.1_Missense_Mutation_p.S208L|RBM15_ENST00000487146.2_Missense_Mutation_p.S208L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	208	RRM 1.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTCATCTGTCGGGTTCTGGC	0.597000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	40					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77256781	77256781	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:77256781C>T	ENST00000248594.6	+	13	2057	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	PTPN12_ENST00000435495.2_Silent_p.L465L|PTPN12_ENST00000415482.2_Silent_p.L476L	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	595						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GAACACCCCTCAGTTTTACTA	0.403000													21	179					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55573415	55573415	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:55573415C>G	ENST00000436346.1	-	10	1778	c.937G>C	c.(937-939)Gat>Cat	p.D313H	CCDC88A_ENST00000413716.2_Missense_Mutation_p.D313H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D313H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D313H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	313					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CGAAGTGCATCTAATTCATCT	0.328000													31	38					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35937676	35937676	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:35937676C>T	ENST00000339208.6	-	7	765	c.625G>A	c.(625-627)Gat>Aat	p.D209N	SYNRG_ENST00000345615.4_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.D209N|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000588194.1_Intron|SYNRG_ENST00000585472.1_Intron|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000394378.2_Intron	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	209					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTACTTATATCACAAGATACT	0.373000													20	54					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111980949	111980949	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:111980949G>A	ENST00000361822.3	+	11	1161	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	344						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						ATCAGCAAGTGAAACTGGTCA	0.358000													103	38					0	0	1	0	0
VIPAS39	63894	broad.mit.edu	37	14	77896090	77896090	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr14:77896090C>T	ENST00000553888.1	-	17	1710	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	VIPAS39_ENST00000327028.4_Silent_p.K387K|VIPAS39_ENST00000557658.1_Silent_p.K400K|VIPAS39_ENST00000343765.2_Silent_p.K400K|VIPAS39_ENST00000448935.2_Silent_p.K351K|VIPAS39_ENST00000556412.1_Silent_p.K426K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog									p.K400N(1)									GTGCTCTCTTCTTGGTATAGC	0.493000													42	98					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	970316	970316	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:970316G>C	ENST00000537687.1	+	7	2401	c.1758G>C	c.(1756-1758)gaG>gaC	p.E586D	WNK1_ENST00000340908.4_Missense_Mutation_p.E179D|WNK1_ENST00000535572.1_Missense_Mutation_p.E586D|WNK1_ENST00000315939.6_Missense_Mutation_p.E586D|WNK1_ENST00000530271.2_Missense_Mutation_p.E586D	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	586					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGCAGGAAGAGAGCAGTCTCA	0.473000													36	57					0	0	1	0	0
TSFM	10102	broad.mit.edu	37	12	58189979	58189979	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:58189979G>A	ENST00000454289.3	+	6	804	c.591G>A	c.(589-591)atG>atA	p.M197I	TSFM_ENST00000550559.1_Intron|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000350762.5_Missense_Mutation_p.M157I|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000323833.8_Missense_Mutation_p.M218I|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000540550.1_Silent_p.*168*	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial	197					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GAGAAAACATGATTCTTAAAC	0.448000													10	16					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18895415	18895415	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr16:18895415C>T	ENST00000446231.2	-	9	1508	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	SMG1_ENST00000389467.3_Missense_Mutation_p.E366K|SMG1_ENST00000565224.1_Missense_Mutation_p.E340K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	366	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCCATGTCTTCCAGAAACTGA	0.343000													11	35					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8404176	8404176	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:8404176C>G	ENST00000360416.3	-	29	3850	c.3712G>C	c.(3712-3714)Gag>Cag	p.E1238Q	MYH10_ENST00000396239.1_Missense_Mutation_p.E1228Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1223Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1207Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1207					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTGAGAGCTCCTCCAGGGCT	0.547000													17	21					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186291658	186291658	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:186291658C>T	ENST00000367478.4	-	44	6654	c.6358G>A	c.(6358-6360)Ggt>Agt	p.G2120S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACCATGCCACCTATTCCTGGA	0.378000			T	NTRK1	papillary thyroid								13	30					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74833581	74833581	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:74833581C>G	ENST00000412021.2	-	4	414	c.81G>C	c.(79-81)caG>caC	p.Q27H	P4HA1_ENST00000307116.2_Missense_Mutation_p.Q27H|P4HA1_ENST00000263556.3_Missense_Mutation_p.Q27H|P4HA1_ENST00000394890.2_Missense_Mutation_p.Q27H|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000440381.1_Missense_Mutation_p.Q27H|P4HA1_ENST00000373008.2_Missense_Mutation_p.Q27H	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	27						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AATCAGTCATCTGACCTAGAA	0.333000													5	27					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886769	3886769	+	Silent	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:3886769C>G	ENST00000319331.3	+	2	1205	c.444C>G	c.(442-444)ctC>ctG	p.L148L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	148						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCAAGAACTCTACATCAACC	0.408000													37	39					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154067535	154067535	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:154067535C>T	ENST00000368559.3	-	15	2134	c.2063G>A	c.(2062-2064)cGa>cAa	p.R688Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.R688Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	688						integral to membrane		p.R688Q(1)		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)			CAAAAAAAATCGGGAGGGCTC	0.468000													18	26					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25973097	25973097	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:25973097C>T	ENST00000435504.4	-	12	1621	c.1328G>A	c.(1327-1329)aGa>aAa	p.R443K	ASXL2_ENST00000272341.4_Missense_Mutation_p.R183K|ASXL2_ENST00000336112.4_Missense_Mutation_p.R415K|ASXL2_ENST00000404843.1_Missense_Mutation_p.R183K			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTTCTTTTCTGCCTGGTGA	0.473000													15	159					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134257515	134257515	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:134257515G>A	ENST00000524765.1	-	2	4583	c.39C>T	c.(37-39)atC>atT	p.I13I	B3GAT1_ENST00000312527.4_Silent_p.I13I|B3GAT1_ENST00000537389.1_Silent_p.I26I|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Silent_p.I13I			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	13					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AGGGCAGCACGATGAGGACGA	0.622000													8	26					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151277173	151277173	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:151277173G>A	ENST00000367321.3	+	17	2043	c.1769G>A	c.(1768-1770)gGg>gAg	p.G590E		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	590	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)		ATAACCATCGGGCAGGGAAAC	0.483000													10	24					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726769	63726769	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:63726769C>T	ENST00000421025.1	+	5	1027	c.758C>T	c.(757-759)tCa>tTa	p.S253L	ZNF679_ENST00000255746.4_Missense_Mutation_p.S253L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACCTGGTCCTCAACCCTTACT	0.433000													12	48					0	0	1	0	0
TXLNA	200081	broad.mit.edu	37	1	32660671	32660671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:32660671G>T	ENST00000373609.1	+	10	1797	c.1516G>T	c.(1516-1518)Gag>Tag	p.E506*	TXLNA_ENST00000373610.3_Nonsense_Mutation_p.E506*			P40222	TXLNA_HUMAN	taxilin alpha	506					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)				GAGGAGGCCAGAGGGGCCTGG	0.642000													9	24					1.12685e-05	1.17055e-05	1	1	0
CAST	831	broad.mit.edu	37	5	96082069	96082069	+	Silent	SNP	A	A	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:96082069A>G	ENST00000395813.1	+	17	1410	c.1224A>G	c.(1222-1224)ctA>ctG	p.L408L	CAST_ENST00000504465.1_Silent_p.L253L|CAST_ENST00000511782.1_Silent_p.L311L|CAST_ENST00000341926.3_Silent_p.L325L|CAST_ENST00000359176.4_Silent_p.L389L|CAST_ENST00000509903.1_Silent_p.L290L|CAST_ENST00000508608.1_Silent_p.L371L|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000508830.1_Silent_p.L408L|CAST_ENST00000511049.1_Silent_p.L311L|CAST_ENST00000508579.1_Silent_p.L40L|CAST_ENST00000395812.2_Silent_p.L367L|CAST_ENST00000515663.1_Silent_p.L48L|CAST_ENST00000338252.3_Silent_p.L312L|CAST_ENST00000309190.5_Silent_p.L303L|CAST_ENST00000325674.7_Silent_p.L373L|CAST_ENST00000510756.1_Silent_p.L386L	NM_001284213.1	NP_001271142.1	P20810	ICAL_HUMAN	calpastatin	325			C -> S (in dbSNP:rs754615).				calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AAGAAAAACTAGAGAAGTGTG	0.388000													14	47					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518403	7518403	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:7518403G>C	ENST00000359920.6	+	7	1595	c.1342G>C	c.(1342-1344)Gat>Cat	p.D448H	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.D290H|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.K405N	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	448	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCTCATCAAAGATATCATCTC	0.507000													15	60					0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46447790	46447790	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr18:46447790G>A	ENST00000262158.2	-	4	1519	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	SMAD7_ENST00000589634.1_Silent_p.F410F|SMAD7_ENST00000591805.1_Silent_p.F196F	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	411	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					AGCTGCTGATGAACTGGCGGG	0.607000													8	32					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62321724	62321724	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:62321724C>T	ENST00000371158.2	+	18	2249	c.2135C>T	c.(2134-2136)tCa>tTa	p.S712L	INADL_ENST00000316485.6_Missense_Mutation_p.S712L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	712	PDZ 5.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CCTACAAGATCAGTGATTGTG	0.463000													13	44					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37427401	37427401	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:37427401C>T	ENST00000373451.4	+	10	1200	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_015050.2	NP_055865.1			cap methyltransferase 1	346																	CTCTGCTTTTCGGAATTTTGT	0.448000													54	174					0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54383132	54383132	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:54383132C>A	ENST00000303460.4	+	2	1005	c.931C>A	c.(931-933)Caa>Aaa	p.Q311K	HOXC10_ENST00000511575.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	311					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TACAGACAGACAAGTCAAAAT	0.423000											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	34					2.52088e-20	2.77223e-20	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153910041	153910041	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:153910041C>G	ENST00000361217.4	-	15	2573	c.2155G>C	c.(2155-2157)Gag>Cag	p.E719Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	719										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGGTTGCTCTTGAAGAGAC	0.617000													4	16					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90504322	90504322	+	Silent	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:90504322G>C	ENST00000369393.3	-	3	643	c.528C>G	c.(526-528)ctC>ctG	p.L176L	MDN1_ENST00000428876.1_Silent_p.L176L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	176					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATGGCTTCTGAGGAGAGGGA	0.537000													15	16					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764012	140764012	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:140764012G>A	ENST00000518325.1	+	1	1546	c.1546G>A	c.(1546-1548)Gcg>Acg	p.A516T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCTGTACGCGCTGCAATC	0.517000													16	9					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155001827	155001827	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:155001827C>A	ENST00000368424.3	-	8	1282	c.1224G>T	c.(1222-1224)gaG>gaT	p.E408D	DCST2_ENST00000295536.5_Missense_Mutation_p.E408D	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	408						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTTGAAGGTCTCCAGAATGT	0.552000													28	50					5.60225e-13	6.0718e-13	1	1	0
SOAT1	6646	broad.mit.edu	37	1	179316748	179316748	+	Silent	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:179316748C>G	ENST00000367619.3	+	12	1274	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	SOAT1_ENST00000539888.1_Silent_p.L312L|SOAT1_ENST00000540564.1_Silent_p.L319L|SOAT1_ENST00000535686.1_Silent_p.L113L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	377					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGCTGATTCTCTTCCTTACTT	0.343000													32	52					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43327853	43327853	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr21:43327853C>G	ENST00000380486.3	-	9	1300	c.1059G>C	c.(1057-1059)aaG>aaC	p.K353N	C2CD2_ENST00000329623.7_Missense_Mutation_p.K198N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	353						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AAGGCTGCTTCTTAAATAAGT	0.622000													3	21					0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218504419	218504419	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:218504419G>A	ENST00000366932.3	+	5	865	c.835G>A	c.(835-837)Gac>Aac	p.D279N		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	279						mitochondrion|nucleolus	protein binding	p.D279N(1)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		ATCTGCAAGTGACTCTGATAC	0.393000													5	30					0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905704	15905704	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:15905704C>T	ENST00000308940.8	+	1	944	c.846C>T	c.(844-846)ctC>ctT	p.L282L		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ACACGGTCCTCACACCCTTCC	0.537000													19	27					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262847	45262847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:45262847G>A	ENST00000303230.4	-	8	1906	c.1849C>T	c.(1849-1851)Cag>Tag	p.Q617*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	617						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGTTCTCCTGATTGTTGAAA	0.418000													9	29					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24190908	24190908	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:24190908G>C	ENST00000379177.1	+	5	476	c.49G>C	c.(49-51)Gat>Cat	p.D17H	ZFX_ENST00000338565.3_Missense_Mutation_p.D17H|ZFX_ENST00000379188.3_Missense_Mutation_p.D17H|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.D17H|ZFX_ENST00000540034.1_Missense_Mutation_p.D17H	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTCATTTTTTGATGCAACAGG	0.383000													18	30					0	0	1	0	0
ROGDI	79641	broad.mit.edu	37	16	4848114	4848114	+	Silent	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr16:4848114G>T	ENST00000322048.7	-	8	981	c.603C>A	c.(601-603)ctC>ctA	p.L201L	ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	201						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						GGTACACCGTGAGGCAGAGCT	0.667000													11	14					0.00244969	0.00250309	1	1	0
EFR3A	23167	broad.mit.edu	37	8	133014902	133014902	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr8:133014902G>A	ENST00000254624.5	+	21	2484	c.2259G>A	c.(2257-2259)gaG>gaA	p.E753E	EFR3A_ENST00000334503.4_Silent_p.E753E|EFR3A_ENST00000519656.1_Silent_p.E717E|EFR3A_ENST00000521940.1_3'UTR	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	753						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTGTGATAGAGAAATTTCAGA	0.373000													21	22					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65541035	65541035	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:65541035C>T	ENST00000356388.4	-	6	1046	c.857G>A	c.(856-858)aGc>aAc	p.S286N	SPRED2_ENST00000443619.2_Missense_Mutation_p.S283N	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	286					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CTTGATCACGCTGCCCCCGCG	0.657000													18	47					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50383551	50383551	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:50383551G>A	ENST00000221543.5	+	4	510	c.211G>A	c.(211-213)Gac>Aac	p.D71N	TBC1D17_ENST00000535102.2_Missense_Mutation_p.D38N|TBC1D17_ENST00000598789.1_3'UTR	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	71						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CAGTGGGGGTGACTCATGTGC	0.557000													14	51					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528344	6528344	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:6528344G>T	ENST00000377748.1	-	21	3280	c.2783C>A	c.(2782-2784)tCc>tAc	p.S928Y	PLEKHG5_ENST00000544978.1_Missense_Mutation_p.S851Y|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.S930Y|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.S888Y|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.S851Y|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.S907Y|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.S920Y|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.S851Y|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.S851Y|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.S851Y|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.S851Y	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	907					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTGGAGGGGAAGGAACTCG	0.672000													5	13					0.014758	0.014877	1	1	0
PIGS	94005	broad.mit.edu	37	17	26890514	26890514	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:26890514G>C	ENST00000308360.7	-	5	778	c.403C>G	c.(403-405)Cag>Gag	p.Q135E	PIGS_ENST00000543734.1_Missense_Mutation_p.Q74E|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.Q127E	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	135					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)					GCTTGTTCCTGAGGCTCATCT	0.527000													12	42					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97311456	97311456	+	Splice_Site	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:97311456G>A	ENST00000389672.5	+	12	2425	c.2387G>A	c.(2386-2388)aGa>aAa	p.R796K	EPHA6_ENST00000442602.2_Splice_Site_p.R162K|EPHA6_ENST00000514100.1_Splice_Site_p.R188K|EPHA6_ENST00000502694.1_Splice_Site_p.R188K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	701	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCTTAAAAGGATCCTTCCCG	0.433000													8	27					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28000567	28000567	+	Silent	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr15:28000567G>C	ENST00000354638.3	-	24	2639	c.2484C>G	c.(2482-2484)ctC>ctG	p.L828L	OCA2_ENST00000353809.5_Silent_p.L804L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	828					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAGCCACAAGGAGATAACACA	0.418000									Oculocutaneous Albinism				9	13					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47763029	47763029	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:47763029C>T	ENST00000489301.2	+	4	571	c.486C>T	c.(484-486)ttC>ttT	p.F162F	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Silent_p.F162F|OPN5_ENST00000371211.2_Silent_p.F162F			Q6U736	OPN5_HUMAN	opsin 5	162					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ATGCTTCCTTCTGGACCACCA	0.597000													5	14					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5790035	5790035	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:5790035C>G	ENST00000328090.5	+	15	5276	c.4651C>G	c.(4651-4653)Cca>Gca	p.P1551A		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1551																	ATCAGGAAATCCATTGCAGCC	0.423000													12	45					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160261131	160261131	+	Silent	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:160261131G>T	ENST00000241704.7	-	31	3643	c.3414C>A	c.(3412-3414)gcC>gcA	p.A1138A	COPA_ENST00000368069.3_Silent_p.A1147A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1138					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTACCTGTTGGGCCACCTCAG	0.527000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	76					0.010729	0.0108447	1	1	0
SEMG1	6406	broad.mit.edu	37	20	43837174	43837174	+	Silent	SNP	T	T	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr20:43837174T>C	ENST00000372781.3	+	2	1293	c.1236T>C	c.(1234-1236)aaT>aaC	p.N412N	SEMG1_ENST00000244069.6_Silent_p.N352N	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATCTACAAATAGAGAACAAG	0.433000													44	45					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152690738	152690738	+	Silent	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:152690738G>T	ENST00000367255.5	-	60	10120	c.9519C>A	c.(9517-9519)atC>atA	p.I3173I	SYNE1_ENST00000448038.1_Silent_p.I3180I|SYNE1_ENST00000423061.1_Silent_p.I3180I|SYNE1_ENST00000265368.4_Silent_p.I3173I|SYNE1_ENST00000341594.5_Silent_p.I3212I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3173					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)		CCTTCATTTGGATCTTTAGAT	0.433000										HNSCC(10;0.0054)			5	36					1.23904e-05	1.28354e-05	1	1	0
RAB3A	5864	broad.mit.edu	37	19	18308281	18308281	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:18308281C>T	ENST00000222256.4	-	5	840	c.662G>A	c.(661-663)tGa>tAa	p.*221*	RAB3A_ENST00000464076.3_Silent_p.*126*	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	0					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						GGATGGCTCTCAGCAGGCGCA	0.682000													4	16					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				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	p.Q383H(2)		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)					TTGTAACTCAGAGACCACTAA	0.348000													11	40					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345342	20345342	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr14:20345342C>G	ENST00000298642.2	+	1	952	c.916C>G	c.(916-918)Cta>Gta	p.L306V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATAGGTTTCTAAATTTTAA	0.343000													7	34					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057727	27057727	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:27057727C>G	ENST00000324856.7	+	3	1806	c.1435C>G	c.(1435-1437)Cag>Gag	p.Q479E	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q96E|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q479E	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	479	Poly-Gln.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q479*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTCACCCTCAGCAGCAGCA	0.557000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								75	292					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99019824	99019824	+	Missense_Mutation	SNP	C	C	T	rs139350531		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:99019824C>T	ENST00000299157.4	-	3	1391	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	335					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATATCCAGTTCATTTTGCATC	0.294000													7	17					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379739	113379739	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:113379739C>T	ENST00000316407.4	-	7	1200	c.790G>A	c.(790-792)Gag>Aag	p.E264K	KIAA2018_ENST00000478658.1_Missense_Mutation_p.E264K|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	264					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						TGGTGAGGCTCAGATTCAATT	0.408000													7	42					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29663812	29663812	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:29663812C>T	ENST00000358273.4	+	42	6690	c.6307C>T	c.(6307-6309)Ctc>Ttc	p.L2103F	NF1_ENST00000356175.3_Missense_Mutation_p.L2082F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2103					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTCCCTACCTCTTCCACGT	0.443000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			43	54					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46586635	46586635	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:46586635C>G	ENST00000395905.3	-	3	626	c.234G>C	c.(232-234)aaG>aaC	p.K78N	LRRC2_ENST00000296144.3_Missense_Mutation_p.K78N	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	78										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TCCTTTCAATCTTGTCCAGAA	0.532000													37	148					0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69581653	69581653	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:69581653G>T	ENST00000357308.4	-	8	831	c.653C>A	c.(652-654)tCt>tAt	p.S218Y	GFPT1_ENST00000361060.5_Missense_Mutation_p.S218Y	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	218	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGATCAGTAGAAAGTTTATG	0.343000													15	54					2.23348e-06	2.3461e-06	1	1	0
OR2J3	442186	broad.mit.edu	37	6	29080224	29080224	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:29080224C>T	ENST00000377169.1	+	1	557	c.557C>T	c.(556-558)gCa>gTa	p.A186V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GAAGTTCCAGCACTTCTGCGA	0.453000													43	42					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33267615	33267615	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:33267615G>A	ENST00000314144.5	-	8	1026	c.911C>T	c.(910-912)tCt>tTt	p.S304F	CCT6B_ENST00000436961.3_Missense_Mutation_p.S259F|CCT6B_ENST00000421975.3_Missense_Mutation_p.S267F	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	304					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTTTGCAAGAGAATCTAAGGA	0.308000													12	24					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940219	1940219	+	Silent	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:1940219G>T	ENST00000543818.1	+	4	1028	c.186G>T	c.(184-186)gtG>gtT	p.V62V	CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Silent_p.V62V|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_Silent_p.V62V|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	62	LRRNT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TCACCACGGTGCCCCCAGACG	0.642000													17	53					2.94398e-08	3.12746e-08	1	1	0
TRPM7	54822	broad.mit.edu	37	15	50925154	50925154	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr15:50925154G>T	ENST00000313478.7	-	9	1324	c.1043C>A	c.(1042-1044)tCc>tAc	p.S348Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.S348Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	348					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTGATAGTGGAAATAATATC	0.338000													13	30					0.0202918	0.0204006	1	1	0
C9orf96	169436	broad.mit.edu	37	9	136262346	136262346	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr9:136262346C>G	ENST00000371957.3	+	10	1029	c.922C>G	c.(922-924)Ctg>Gtg	p.L308V	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	308							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGCGTCTCTCTGACCCTGCA	0.592000													3	5					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179095723	179095723	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:179095723C>T	ENST00000502732.1	-	4	679	c.476G>A	c.(475-477)aGc>aAc	p.S159N	ABL2_ENST00000512653.1_Missense_Mutation_p.S144N|ABL2_ENST00000392043.3_Missense_Mutation_p.S138N|ABL2_ENST00000367623.4_Missense_Mutation_p.S138N|ABL2_ENST00000507173.1_Missense_Mutation_p.S138N|ABL2_ENST00000511413.1_Missense_Mutation_p.S159N|ABL2_ENST00000408940.3_Missense_Mutation_p.S123N|ABL2_ENST00000504405.1_Missense_Mutation_p.S123N|ABL2_ENST00000344730.3_Missense_Mutation_p.S144N	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	159	SH3.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GATGTAGTTGCTTGGCACCCA	0.502000			T	ETV6	AML								12	53					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989676	15989676	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:15989676G>A	ENST00000221700.6	-	13	1563	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C		NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCAGGACGCGGAAGCGCAGC	0.672000													21	22					0	0	1	0	0
GUSBP11	91316	broad.mit.edu	37	22	23980979	23980979	+	RNA	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr22:23980979C>T	ENST00000455485.1	-	0	3510				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA																							TCTCCACGCTCTGGGTGATGA	0.567000													15	33					0	0	1	0	0
UTY	7404	broad.mit.edu	37	Y	15469785	15469785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrY:15469785G>T	ENST00000331397.4	-	13	2257	c.1250C>A	c.(1249-1251)tCg>tAg	p.S417*	UTY_ENST00000545955.1_Nonsense_Mutation_p.S492*|UTY_ENST00000382896.4_Nonsense_Mutation_p.S462*|UTY_ENST00000538878.1_Nonsense_Mutation_p.S384*|UTY_ENST00000329134.5_Nonsense_Mutation_p.S417*|UTY_ENST00000540140.1_Nonsense_Mutation_p.S414*|UTY_ENST00000362096.4_Nonsense_Mutation_p.S417*|UTY_ENST00000537580.1_Nonsense_Mutation_p.S462*	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	417					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						CAAACACAACGAATAAACTTG	0.343000													15	1					2.35188e-11	2.53435e-11	1	1	0
BSN	8927	broad.mit.edu	37	3	49689071	49689071	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:49689071G>C	ENST00000296452.4	+	5	2196	c.2082G>C	c.(2080-2082)caG>caC	p.Q694H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	694					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTAGCTCCCAGAGTGAGATCA	0.607000													47	30					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113823088	113823088	+	Splice_Site	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:113823088C>T	ENST00000280800.3	+	9	1317	c.1286C>T	c.(1285-1287)cCg>cTg	p.P429L	PLBD2_ENST00000545182.2_Splice_Site_p.P397L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	429					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TACAACATACCGTGCGTGCCT	0.577000													18	19					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32460539	32460539	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:32460539C>T	ENST00000404025.2	-	9	3201	c.2713G>A	c.(2713-2715)Gag>Aag	p.E905K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E905K|NLRC4_ENST00000342905.6_Missense_Mutation_p.E240K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E905K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	905					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGTGGGACCTCCTCCAAATGT	0.498000													10	128					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	156					0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167570862	167570862	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:167570862G>C	ENST00000366834.1	-	1	955	c.458C>G	c.(457-459)tCt>tGt	p.S153C		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	153						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GGCGGCCTCAGAGATGAGCAA	0.627000													32	44					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37660402	37660402	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr21:37660402C>G	ENST00000399151.3	+	33	6336	c.6251C>G	c.(6250-6252)tCt>tGt	p.S2084C		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2084					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTAAGAATATCTCCTCAACAT	0.383000													15	62					0	0	1	0	0
PTP4A2	8073	broad.mit.edu	37	1	32374486	32374486	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:32374486G>A	ENST00000344035.6	-	6	1464	c.471C>T	c.(469-471)ttC>ttT	p.F157F	RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000457805.2_Silent_p.F126F|PTP4A2_ENST00000602725.1_Silent_p.F157F|PTP4A2_ENST00000356536.3_3'UTR|PTP4A2_ENST00000470404.1_3'UTR	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	157						early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				TGGTATCTCTGAAGCGTAATC	0.413000													37	134					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719118	52719118	+	Silent	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:52719118G>T	ENST00000322088.6	+	7	952	c.894G>T	c.(892-894)gtG>gtT	p.V298V	PPP2R1A_ENST00000444322.2_Silent_p.V243V|PPP2R1A_ENST00000462990.1_Silent_p.V119V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	298	PP2A subunit B binding.|Polyoma small and medium T antigens 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	p.V298V(1)		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)		AGGCCGAGGTGAGGGCCGCAG	0.592000			Mis		clear cell ovarian carcinoma								8	55					0.00448238	0.00456764	1	1	0
MYO1A	4640	broad.mit.edu	37	12	57432242	57432242	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:57432242C>A	ENST00000442789.2	-	18	2001	c.1714G>T	c.(1714-1716)Gcc>Tcc	p.A572S	MYO1A_ENST00000544473.1_Missense_Mutation_p.A410S|MYO1A_ENST00000300119.3_Missense_Mutation_p.A572S|MYO1A_ENST00000476795.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	572	Actin-binding (Potential).|Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGAGGATGGCCACAGAACTC	0.557000													12	16					0.000978159	0.00100221	1	1	0
PTPN12	5782	broad.mit.edu	37	7	77256769	77256769	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:77256769C>T	ENST00000248594.6	+	13	2045	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	PTPN12_ENST00000435495.2_Silent_p.F461F|PTPN12_ENST00000415482.2_Silent_p.F472F	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	591						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CACCACTCTTCAGAACACCCC	0.388000													23	184					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47491290	47491290	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:47491290G>C	ENST00000404338.3	+	3	3871	c.3871G>C	c.(3871-3873)Gag>Cag	p.E1291Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1291	Rho-GAP.				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										GAACAAGTCTGAGATGGAGAG	0.567000													20	15					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33642136	33642136	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:33642136G>C	ENST00000361680.2	+	6	807	c.729G>C	c.(727-729)caG>caC	p.Q243H	WDR88_ENST00000355868.3_Missense_Mutation_p.Q243H			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	243										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CCGACAGCCAGAGGGTGGCTT	0.562000													4	18					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56749136	56749136	+	Splice_Site	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:56749136C>T	ENST00000314128.4	-	6	495		c.e6-1		STAT2_ENST00000418572.2_Splice_Site|STAT2_ENST00000557235.1_Splice_Site			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa						interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTACCAGCTTCTGCAGAGGGG	0.517000													39	107					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79569372	79569372	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:79569372G>A	ENST00000372391.2	-	24	4585	c.4580C>T	c.(4579-4581)gCc>gTc	p.A1527V	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.A1187V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1527	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTCCACCTCGGCCACAAACAC	0.602000													31	121					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73836859	73836859	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:73836859G>T	ENST00000207549.4	-	8	1046	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	UNC13D_ENST00000412096.2_Missense_Mutation_p.L223M|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	223					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCCCATGCAGATCCGTGAGC	0.602000									Familial Hemophagocytic Lymphohistiocytosis				17	95					1.37522e-17	1.50792e-17	1	1	0
RPL26L1	51121	broad.mit.edu	37	5	172386879	172386879	+	Translation_Start_Site	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:172386879G>A	ENST00000521476.1	+	2	127	c.3G>A	c.(1-3)atG>atA	p.M1I	RPL26L1_ENST00000265100.2_Start_Codon_SNP_p.M1I|RPL26L1_ENST00000519974.1_Start_Codon_SNP_p.M1I|RPL26L1_ENST00000519239.1_Start_Codon_SNP_p.M1I			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	1					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGTCACCATGAAGTTCAATC	0.562000											OREG0017052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	40					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103564016	103564016	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr8:103564016G>C	ENST00000285402.3	+	1	217	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	21					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GGTGGACAGAGAACTAAGGCA	0.478000													17	69					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22444445	22444445	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:22444445G>A	ENST00000334304.5	-	7	1017	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	GPR125_ENST00000508133.1_Missense_Mutation_p.H24Y|GPR125_ENST00000502482.1_Missense_Mutation_p.H250Y|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	250	Ig-like.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACTTGGCGATGAGATGGAGTC	0.403000													29	36					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107563	45107563	+	Silent	SNP	G	G	T	rs149494438		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr21:45107563G>T	ENST00000340648.4	+	13	1425	c.1308G>T	c.(1306-1308)ctG>ctT	p.L436L		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	436				L -> P (in Ref. 1; BAA11496 and 3; AAH28386).	rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	p.L436L(1)		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)		CCTCTGGGCTGAAAGCCCTGA	0.657000													18	14					9.16793e-09	9.76697e-09	1	1	0
PSMC6	5706	broad.mit.edu	37	14	53173937	53173937	+	Translation_Start_Site	SNP	C	C	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr14:53173937C>A	ENST00000606149.1	+	0	16				PSMC6_ENST00000445930.2_Silent_p.I14I	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6						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)					GGCTTCTCATCATGGCGGACC	0.622000													8	20					6.40141e-05	6.57679e-05	1	1	0
MAP3K4	4216	broad.mit.edu	37	6	161513086	161513086	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:161513086G>A	ENST00000392142.4	+	13	3328	c.3180G>A	c.(3178-3180)caG>caA	p.Q1060Q	MAP3K4_ENST00000366919.2_Silent_p.Q1060Q|MAP3K4_ENST00000366920.2_Silent_p.Q1060Q|MAP3K4_ENST00000348824.7_Silent_p.Q1060Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1060					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGTTTAGACAGAAGATAGGAG	0.353000													30	143					0	0	1	0	0
RAN	5901	broad.mit.edu	37	12	131359242	131359242	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:131359242G>A	ENST00000543796.1	+	5	657	c.399G>A	c.(397-399)gcG>gcA	p.A133A	RAN_ENST00000392369.2_Silent_p.A133A|RAN_ENST00000541630.1_Silent_p.A45A|RAN_ENST00000392367.3_Silent_p.A150A|RAN_ENST00000254675.3_Silent_p.A45A			P62826	RAN_HUMAN	RAN, member RAS oncogene family	133					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)		AAGTGAAGGCGAAATCCATTG	0.398000													31	29					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63021642	63021642	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:63021642G>C	ENST00000251157.5	-	21	2483	c.2450C>G	c.(2449-2451)tCt>tGt	p.S817C	DOCK7_ENST00000340370.5_Missense_Mutation_p.S817C	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	817					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						GGCTTCAAAAGATGCTTGACC	0.338000													24	73					0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68052236	68052236	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:68052236G>C	ENST00000344096.3	+	3	1962	c.1549G>C	c.(1549-1551)Gag>Cag	p.E517Q	DYRK2_ENST00000393555.3_Missense_Mutation_p.E444Q	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	517	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		ACAGTGTTTAGAGTGGGATCC	0.602000													13	56					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92033578	92033578	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr8:92033578G>A	ENST00000285419.3	-	2	475	c.161C>T	c.(160-162)cCa>cTa	p.P54L		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	54						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GTTTATTACTGGAATACCACT	0.448000													19	74					0	0	1	0	0
THRSP	7069	broad.mit.edu	37	11	77775222	77775222	+	Missense_Mutation	SNP	G	G	A	rs145822616		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:77775222G>A	ENST00000281030.2	+	1	316	c.295G>A	c.(295-297)Gag>Aag	p.E99K	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	99					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			AGAGGAAGTCGAGGACGAGAG	0.607000													13	22					0	0	1	0	0
MBIP	51562	broad.mit.edu	37	14	36768326	36768326	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr14:36768326C>T	ENST00000416007.4	-	9	1085	c.998G>A	c.(997-999)aGa>aAa	p.R333K	MBIP_ENST00000318473.7_Missense_Mutation_p.R332K|MBIP_ENST00000359527.7_3'UTR	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	333	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TTCTGCTTCTCTTGATTTTCT	0.383000													34	102					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9459519	9459519	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:9459519G>A	ENST00000379719.3	+	21	2629	c.2487G>A	c.(2485-2487)ttG>ttA	p.L829L		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	829					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACTGTTTCTTGGGGTAAGTGA	0.289000													12	17					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15516384	15516384	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:15516384G>C	ENST00000424120.1	+	9	1026	c.772G>C	c.(772-774)Gat>Cat	p.D258H	CC2D2A_ENST00000503292.1_Missense_Mutation_p.D258H|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D258H|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D209H			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	258					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ATTGGGCTTAGATCACGTGGC	0.418000													23	27					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135789355	135789355	+	Silent	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:135789355G>C	ENST00000264977.3	+	6	3122	c.2505G>C	c.(2503-2505)ctG>ctC	p.L835L	PPP2R3A_ENST00000334546.2_Silent_p.L214L|PPP2R3A_ENST00000490467.1_Silent_p.L99L|PPP2R3A_ENST00000492624.2_Silent_p.L99L	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	835					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCACGTTCCTGAAAGATGCTC	0.383000													15	20					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105148663	105148663	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:105148663C>G	ENST00000356362.2	-	2	511	c.297G>C	c.(295-297)gaG>gaC	p.E99D	PUS7_ENST00000469408.1_Missense_Mutation_p.E99D	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	99					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CTGCAAAACTCTCTGATTCCT	0.468000													26	131					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474489	140474489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:140474489G>T	ENST00000194155.4	+	1	263	c.115G>T	c.(115-117)Gag>Tag	p.E39*		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		39	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGTGGCCGAGGAAACGGA	0.537000													12	16					1.08611e-07	1.14407e-07	1	1	0
CP	1356	broad.mit.edu	37	3	148925199	148925199	+	Silent	SNP	C	C	T	rs150470431		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:148925199C>T	ENST00000264613.6	-	5	1249	c.987G>A	c.(985-987)caG>caA	p.Q329Q		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	329	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTCCAGGGTTCTGGGCCACCA	0.448000													11	45					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100178035	100178035	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:100178035C>T	ENST00000328526.5	-	2	955	c.390G>A	c.(388-390)atG>atA	p.M130I	XKRX_ENST00000468904.1_Intron|XKRX_ENST00000372956.2_Missense_Mutation_p.M117I	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	117						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GGTACTTAATCATGGCCTCCA	0.478000													25	20					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697420	153697420	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:153697420G>A	ENST00000369682.3	+	26	4631	c.4456G>A	c.(4456-4458)Gag>Aag	p.E1486K		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1486					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGTGTGTCCGGAGAACGAGGG	0.622000													13	20					0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67198961	67198961	+	Silent	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:67198961C>G	ENST00000312629.5	+	5	477	c.432C>G	c.(430-432)ctC>ctG	p.L144L	RPS6KB2_ENST00000539188.1_Silent_p.L144L|RPS6KB2_ENST00000524814.1_Intron|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	144	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGGCAAACTCTACCTCATCC	0.607000													6	28					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117634555	117634555	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:117634555C>G	ENST00000369466.4	+	17	2832	c.2788C>G	c.(2788-2790)Ctt>Gtt	p.L930V		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTGCTGTCATCTTTCTTTACT	0.532000													24	83					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100917194	100917194	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:100917194G>A	ENST00000393437.3	-	4	1616	c.977C>T	c.(976-978)tCt>tTt	p.S326F	LONRF2_ENST00000409647.1_Missense_Mutation_p.S83F	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	326					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTGGATGGAAGATGTTAAATT	0.408000													12	19					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14031702	14031702	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr16:14031702G>C	ENST00000311895.7	+	9	1900	c.1891G>C	c.(1891-1893)Gaa>Caa	p.E631Q		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	631	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GGAAGCTTTTGAAAAACTCAT	0.403000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				14	44					0	0	1	0	0
FIS1	51024	broad.mit.edu	37	7	100887357	100887357	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:100887357C>T	ENST00000223136.4	-	2	189	c.109G>A	c.(109-111)Gag>Aag	p.E37K	FIS1_ENST00000442303.1_Intron|FIS1_ENST00000474120.1_Intron	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	37					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					CAGGCGTACTCAAACTGCGTG	0.522000											OREG0018218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	54					0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112724785	112724785	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:112724785G>C	ENST00000314400.5	-	9	1493	c.1302C>G	c.(1300-1302)atC>atG	p.I434M	C3orf17_ENST00000393857.2_Missense_Mutation_p.I298M|C3orf17_ENST00000383675.2_Missense_Mutation_p.I364M	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	434						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTGAAGTTTTGATACCTGAGC	0.393000													9	31					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773558	35773558	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:35773558C>T	ENST00000360215.1	+	1	488	c.111C>T	c.(109-111)tcC>tcT	p.S37S	LHFPL5_ENST00000373853.1_Silent_p.S37S	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	37						integral to membrane		p.S37S(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTGCTTCTCCGTACTGGTCA	0.602000													27	97					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178414665	178414665	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:178414665G>A	ENST00000448150.3	+	9	2259	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	RASAL2_ENST00000367649.3_Missense_Mutation_p.D499N|RASAL2_ENST00000462775.1_Missense_Mutation_p.D351N	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	351	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTTTCTGACTGACTTGGTGAT	0.388000													31	88					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268568	21268568	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:21268568G>A	ENST00000602326.1	-	12	1512	c.929C>T	c.(928-930)tCa>tTa	p.S310L	EIF4G3_ENST00000356916.3_Missense_Mutation_p.S315L|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374927.4_Missense_Mutation_p.S304L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S304L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S310L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S304L|EIF4G3_ENST00000536266.1_5'UTR	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	304					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTTGGGGATGAGAGTTCACA	0.428000													45	144					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48953614	48953614	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:48953614G>A	ENST00000253237.5	+	4	746	c.513G>A	c.(511-513)gaG>gaA	p.E171E		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	171						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGTGGTCAGAGAAGGGCCAGG	0.642000													10	25					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640542	99640542	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr14:99640542G>A	ENST00000345514.2	-	3	2684	c.2418C>T	c.(2416-2418)caC>caT	p.H806H	BCL11B_ENST00000357195.3_Silent_p.H877H|BCL11B_ENST00000443726.2_Silent_p.H683H	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	877						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AGTGCTCGCCGTGCCACTTTT	0.617000			T	TLX3	T-ALL								11	16					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176304654	176304654	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:176304654G>A	ENST00000329542.4	+	10	1859	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	UNC5A_ENST00000261961.3_Missense_Mutation_p.D489N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	529	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCAGCCCTGACAGCTGGAG	0.642000													7	16					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688060	62688060	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:62688060G>C	ENST00000281156.4	-	4	672	c.394C>G	c.(394-396)Cat>Gat	p.H132D		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	132	KH.				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)		ATTAATACATGAAGCTCATCA	0.378000													32	40					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846815	47846815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:47846815G>A	ENST00000339488.4	-	3	1798	c.1765C>T	c.(1765-1767)Cga>Tga	p.R589*		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	589						integral to membrane	hedgehog receptor activity	p.R589*(1)									ATATCATTTCGAAAATGCTGG	0.423000													21	14					0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74705724	74705724	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:74705724C>A	ENST00000294064.4	+	2	1192	c.265C>A	c.(265-267)Ctg>Atg	p.L89M	NEU3_ENST00000529024.1_Intron|NEU3_ENST00000545272.1_Intron|NEU3_ENST00000531619.1_Missense_Mutation_p.L89M|NEU3_ENST00000531509.1_Missense_Mutation_p.L89M|NEU3_ENST00000534628.1_Missense_Mutation_p.L89M|NEU3_ENST00000544263.1_Missense_Mutation_p.L56M|NEU3_ENST00000532963.1_Intron	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	89										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TGCTCTCCACCTGGTGCTGAG	0.562000													12	28					2.80697e-09	2.9989e-09	1	1	0
PDE1A	5136	broad.mit.edu	37	2	183129137	183129137	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:183129137T>A	ENST00000435564.1	-	2	306	c.106A>T	c.(106-108)Aga>Tga	p.R36*	PDE1A_ENST00000410103.1_Nonsense_Mutation_p.R36*|PDE1A_ENST00000358139.2_Nonsense_Mutation_p.R36*|PDE1A_ENST00000536095.1_De_novo_Start_OutOfFrame|PDE1A_ENST00000351439.5_Nonsense_Mutation_p.R20*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.R20*|PDE1A_ENST00000456212.1_Nonsense_Mutation_p.R36*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.R36*	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	36	Calmodulin-binding (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACCAAGCATCTTAGTCTATTT	0.348000													27	19					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667153	157667153	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:157667153C>T	ENST00000368184.3	-	6	912	c.621G>A	c.(619-621)atG>atA	p.M207I	FCRL3_ENST00000368186.5_Missense_Mutation_p.M207I|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	207	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGGTCAGGGTCATGGGACTCC	0.547000													16	37					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168098343	168098343	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:168098343G>C	ENST00000409195.1	+	8	1188	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	XIRP2_ENST00000409043.1_Missense_Mutation_p.E367Q|XIRP2_ENST00000409273.1_Missense_Mutation_p.E145Q|XIRP2_ENST00000409605.1_Missense_Mutation_p.E145Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.E367Q|XIRP2_ENST00000409756.2_Missense_Mutation_p.E367Q|XIRP2_ENST00000409728.1_Missense_Mutation_p.E400Q|XIRP2_ENST00000420519.1_Missense_Mutation_p.E400Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	192					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTGTTAAAAGAGCAGTTTGA	0.373000													21	64					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123190075	123190075	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:123190075C>T	ENST00000371160.1	+	14	1584	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.L432F|STAG2_ENST00000371157.3_Missense_Mutation_p.L432F|STAG2_ENST00000371144.3_Missense_Mutation_p.L432F|STAG2_ENST00000371145.3_Missense_Mutation_p.L432F|STAG2_ENST00000354548.5_Missense_Mutation_p.L363F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	432					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						TGGAGAATTTCTCTACAAAAA	0.328000													24	1					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													6	151					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94805532	94805532	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:94805532C>T	ENST00000397809.5	-	4	814	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	CCDC41_ENST00000547575.1_Missense_Mutation_p.E89K|CCDC41_ENST00000339839.5_Missense_Mutation_p.E89K|CCDC41_ENST00000397807.2_Missense_Mutation_p.E56K	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	81										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTTAGTTCTTCAAGCAGGAGC	0.333000													10	55					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94022349	94022349	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:94022349G>A	ENST00000265140.5	+	16	2466	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	683								p.E47Q(1)|p.E683Q(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GTTTGTTGCAGAGGCAGTCTT	0.393000													35	91					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99020043	99020043	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:99020043C>T	ENST00000299157.4	-	3	1172	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	271					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTGCATTCTTCAACTTTGGGT	0.388000													19	76					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49323684	49323684	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:49323684C>G	ENST00000351842.4	-	15	1914	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	USP4_ENST00000265560.4_Missense_Mutation_p.D683H	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	683					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CCTGGCTCATCTTCCCCACTG	0.468000													14	64					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19512471	19512471	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:19512471C>T	ENST00000538714.1	+	24	3154	c.3150C>T	c.(3148-3150)ttC>ttT	p.F1050F	PLEKHA5_ENST00000424268.1_Silent_p.F981F|PLEKHA5_ENST00000299275.6_Silent_p.F992F|PLEKHA5_ENST00000543806.1_Silent_p.F974F|PLEKHA5_ENST00000359180.3_Silent_p.F936F|PLEKHA5_ENST00000539256.1_Silent_p.F750F|PLEKHA5_ENST00000429027.2_Silent_p.F1158F|PLEKHA5_ENST00000355397.3_Silent_p.F1050F|PLEKHA5_ENST00000317589.4_Silent_p.F1055F	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	992							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATGTGGACTTCAGCAAAGAGG	0.358000													16	35					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38830899	38830899	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:38830899C>T	ENST00000436693.2	-	2	315	c.196G>A	c.(196-198)Gag>Aag	p.E66K	TLR6_ENST00000381950.1_Missense_Mutation_p.E66K	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	66					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCTGAAGCTCAGCGATGTAG	0.383000													14	77					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89299058	89299058	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:89299058G>A	ENST00000370521.3	+	22	3241	c.2882G>A	c.(2881-2883)cGa>cAa	p.R961Q	PKN2_ENST00000370513.5_Missense_Mutation_p.R913Q|PKN2_ENST00000495119.1_3'UTR|PKN2_ENST00000544045.1_Missense_Mutation_p.R635Q|PKN2_ENST00000370505.3_Missense_Mutation_p.R804Q	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	961	AGC-kinase C-terminal.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		ACTCCACCTCGAGAACCAAGG	0.408000													27	36					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520688	23520688	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:23520688C>G	ENST00000374619.1	-	1	534	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q	HTR1D_ENST00000314113.3_Missense_Mutation_p.E9Q	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	9					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGAAGGCCTTCTGCTGACTGG	0.567000													15	67					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62784963	62784963	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:62784963G>A	ENST00000280377.5	+	16	2045	c.1987G>A	c.(1987-1989)Gat>Aat	p.D663N	USP15_ENST00000393654.3_Missense_Mutation_p.D638N|USP15_ENST00000353364.3_Missense_Mutation_p.D634N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	663					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGAGCCAGATGATGAATCCAG	0.323000													25	27					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99019947	99019947	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:99019947C>G	ENST00000299157.4	-	3	1268	c.895G>C	c.(895-897)Gac>Cac	p.D299H	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	300					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATAGTCAAGTCTTCCATTTTC	0.363000													10	30					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50381800	50381800	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:50381800G>T	ENST00000221543.5	+	3	465	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	TBC1D17_ENST00000535102.2_Missense_Mutation_p.D23Y|TBC1D17_ENST00000598789.1_3'UTR	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	56						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GGAGGCTGGAGATTCCACCCA	0.542000													11	53					2.80697e-09	2.9989e-09	1	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555036	44555036	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr18:44555036C>T	ENST00000330682.2	-	1	1413	c.1178G>A	c.(1177-1179)tGg>tAg	p.W393*	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	393	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						ATGAATCCTCCATAATTCATC	0.572000													9	425					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77818850	77818850	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:77818850G>A	ENST00000334306.2	-	1	152	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	51																	CGAAGCCCTTGAAGAGCTCGC	0.657000													20	16					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057775	27057775	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:27057775C>T	ENST00000324856.7	+	3	1854	c.1483C>T	c.(1483-1485)Cat>Tat	p.H495Y	ARID1A_ENST00000374152.2_Missense_Mutation_p.H112Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.H495Y	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	495					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGACCCCTCATGCCCAACC	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								80	310					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105732803	105732803	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:105732803G>A	ENST00000393127.2	+	5	987	c.541G>A	c.(541-543)Gtc>Atc	p.V181I	GRIA4_ENST00000428631.2_Missense_Mutation_p.V181I|GRIA4_ENST00000282499.5_Missense_Mutation_p.V181I|GRIA4_ENST00000393125.2_Missense_Mutation_p.V181I|GRIA4_ENST00000530497.1_Missense_Mutation_p.V181I|GRIA4_ENST00000525187.1_Missense_Mutation_p.V181I	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	181					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TGGTTGGCATGTCAGCGCTAT	0.363000													24	36					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577079	7577079	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:7577079C>G	ENST00000420246.2	-	8	991	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	TP53_ENST00000455263.2_Missense_Mutation_p.E287Q|TP53_ENST00000359597.4_Missense_Mutation_p.E287Q|TP53_ENST00000445888.2_Missense_Mutation_p.E287Q|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E287Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	287	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (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.N288fs*13(17)|p.E287*(13)|p.0?(8)|p.E287K(6)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		CGGAGATTCTCTTCCTCTGTG	0.567000		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)			19	2					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896183	89896183	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:89896183C>T	ENST00000534061.1	+	9	1286	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	NAALAD2_ENST00000321955.4_Silent_p.I319I|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	352	NAALADase.				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)				TTGGAACTATCAGAGGATCTG	0.269000													16	35					0	0	1	0	0
CA12	771	broad.mit.edu	37	15	63638903	63638903	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr15:63638903C>G	ENST00000178638.3	-	3	552	c.112G>C	c.(112-114)Gat>Cat	p.D38H	CA12_ENST00000422263.2_Intron|CA12_ENST00000344366.3_Missense_Mutation_p.D38H	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	38					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	TTCTCCCCATCAGGACCTGGA	0.483000													11	52					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28581615	28581615	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr18:28581615G>A	ENST00000434452.1	-	14	2358	c.2204C>T	c.(2203-2205)tCa>tTa	p.S735L	DSC3_ENST00000360428.4_Missense_Mutation_p.S735L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	735					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.S735L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTGTGTTTGATATAATTAA	0.313000													21	69					0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39636869	39636869	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr22:39636869G>A	ENST00000381551.4	-	1	45	c.9C>T	c.(7-9)atC>atT	p.I3I	PDGFB_ENST00000331163.6_Intron	NM_033016.2	NP_148937.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	0					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	CGAGGCCCATGATAAACATCT	0.488000			T	COL1A1	DFSP								7	34					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315090	30315090	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:30315090C>G	ENST00000375377.1	-	3	4088	c.3987G>C	c.(3985-3987)gaG>gaC	p.E1329D		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1329										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GATGCTCCTTCTCTTCCCTGG	0.582000													21	91					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													5	61					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129923878	129923878	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:129923878G>A	ENST00000368654.3	-	2	429	c.54C>T	c.(52-54)ccC>ccT	p.P18P	MKI67_ENST00000368653.3_Silent_p.P18P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	18					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)				GGGGAAAGTGGGGACCGTCGA	0.542000													43	60					0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30652771	30652771	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:30652771C>G	ENST00000274853.3	-	1	2901	c.1025G>C	c.(1024-1026)cGa>cCa	p.R342P	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.R342P	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	342						cytoplasm|cytoskeleton	actin binding										TGTCCATTCTCGAGCCTTCCC	0.572000													26	95					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6935949	6935949	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:6935949C>T	ENST00000311268.3	+	5	2134	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	GPR162_ENST00000428545.2_Silent_p.L165L|GPR162_ENST00000382315.3_Silent_p.L145L	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	449						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCCGGGCCCTCGGGGGTCCTC	0.612000													10	40					0	0	1	0	0
WIPF3	644150	broad.mit.edu	37	7	29923516	29923516	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:29923516C>T	ENST00000409290.1	+	4	406	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	WIPF3_ENST00000409123.1_Missense_Mutation_p.P136S|WIPF3_ENST00000242140.5_Missense_Mutation_p.P136S	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	136										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TCCCAGGCTTCCCAACAAAAC	0.637000													4	10					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204881	66204881	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:66204881C>T	ENST00000503581.1	-	4	960	c.423G>A	c.(421-423)ctG>ctA	p.L141L	EYS_ENST00000342421.5_Silent_p.L141L|EYS_ENST00000393380.2_Silent_p.L141L|EYS_ENST00000370621.3_Silent_p.L141L|EYS_ENST00000370616.2_Silent_p.L141L|EYS_ENST00000370618.3_Silent_p.L141L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	141					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCCAACACTCAGCCACTTAG	0.428000													12	38					0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49404145	49404145	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:49404145G>A	ENST00000405315.4	+	2	426	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	NUCB1_ENST00000263273.5_Missense_Mutation_p.R31Q|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.R31Q	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	31						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCCCTGGAGCGAGGGGCGCCC	0.662000													13	46					0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691369	3691369	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:3691369G>A	ENST00000403096.3	+	6	890	c.399G>A	c.(397-399)gaG>gaA	p.E133E	COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000382062.2_Silent_p.E135E|COLEC11_ENST00000402794.1_Silent_p.E109E|COLEC11_ENST00000402922.1_Silent_p.E109E|COLEC11_ENST00000418971.2_Silent_p.E173E|COLEC11_ENST00000404205.1_Silent_p.E85E|COLEC11_ENST00000236693.7_Silent_p.E156E|COLEC11_ENST00000349077.4_Silent_p.E159E	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	159						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TGGTGAAGGAGGAGAAGCGCT	0.632000													17	30					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79169680	79169680	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:79169680C>G	ENST00000269392.4	-	16	2227	c.1980G>C	c.(1978-1980)caG>caC	p.Q660H	AZI1_ENST00000450824.2_Missense_Mutation_p.Q657H|AZI1_ENST00000575907.1_Missense_Mutation_p.Q660H|AZI1_ENST00000374782.3_Missense_Mutation_p.Q657H	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	660					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGTGCATCTCTGGTCCTCCT	0.632000													7	27					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32692639	32692639	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:32692639G>A	ENST00000421745.2	+	27	5537	c.5403G>A	c.(5401-5403)ttG>ttA	p.L1801L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1801					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)					CTATATTGTTGACTGATGTAT	0.403000													19	26					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139145000	139145000	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr8:139145000G>A	ENST00000395297.1	-	20	4227	c.4057C>T	c.(4057-4059)Ctg>Ttg	p.L1353L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1353										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTTCAACCAGAGGGCCCAGG	0.532000										HNSCC(54;0.14)			121	118					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45003042	45003042	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr20:45003042T>C	ENST00000372176.1	-	15	1412	c.944A>G	c.(943-945)gAa>gGa	p.E315G	ELMO2_ENST00000290246.6_Missense_Mutation_p.E403G|ELMO2_ENST00000454865.2_Missense_Mutation_p.E135G|ELMO2_ENST00000396391.1_Missense_Mutation_p.E403G|ELMO2_ENST00000439931.2_Missense_Mutation_p.E415G|ELMO2_ENST00000352077.2_Missense_Mutation_p.E401G|ELMO2_ENST00000445496.2_Missense_Mutation_p.E220G			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	403	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AAAGGGGCATTCATGTTTGTC	0.527000													35	25					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53363649	53363649	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:53363649G>T	ENST00000229416.6	-	16	2302	c.1819C>A	c.(1819-1821)Caa>Aaa	p.Q607K		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	607					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TTTGCAATTTGGTTACACTTC	0.363000													29	93					6.38683e-12	6.9022e-12	1	1	0
ZNF33B	7582	broad.mit.edu	37	10	43089800	43089800	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:43089800G>A	ENST00000359467.3	-	5	712	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	200						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CGATGACTCAGAGTGTTCCTA	0.358000													26	101					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50944157	50944157	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr22:50944157C>T	ENST00000216080.5	-	6	955	c.787G>A	c.(787-789)Gac>Aac	p.D263N	LMF2_ENST00000474879.2_Missense_Mutation_p.D288N|LMF2_ENST00000380796.3_Missense_Mutation_p.D288N|LMF2_ENST00000505981.1_5'UTR			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	288						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGTGCTGGTCGTCCAGCAGC	0.642000													12	24					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3394474	3394474	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:3394474G>A	ENST00000378378.4	+	11	1914	c.1509G>A	c.(1507-1509)ctG>ctA	p.L503L	ARHGEF16_ENST00000378371.2_Silent_p.L215L|ARHGEF16_ENST00000413250.2_Silent_p.L207L|ARHGEF16_ENST00000378373.1_Silent_p.L215L	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	503	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)		GGTGGCTGCTGAAGCGCGGAG	0.602000													7	40					0	0	1	0	0
BRAP	8315	broad.mit.edu	37	12	112110571	112110571	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:112110571G>A	ENST00000419234.4	-	5	834	c.641C>T	c.(640-642)gCg>gTg	p.A214V	BRAP_ENST00000327551.6_Missense_Mutation_p.A184V|BRAP_ENST00000539060.1_Intron	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	214					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						AAAACTATCCGCATCAGCCTA	0.383000													9	44					0	0	1	0	0
SLC25A39	51629	broad.mit.edu	37	17	42398543	42398543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:42398543G>A	ENST00000225308.8	-	8	724	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	SLC25A39_ENST00000590194.1_Nonsense_Mutation_p.Q184*|SLC25A39_ENST00000586016.1_Nonsense_Mutation_p.Q60*|SLC25A39_ENST00000377095.5_Nonsense_Mutation_p.Q192*|SLC25A39_ENST00000537904.2_Nonsense_Mutation_p.Q169*	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	192					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GACACATGCTGAGCCTGCAGC	0.627000													10	23					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121028927	121028927	+	Silent	SNP	G	G	A	rs149232569		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:121028927G>A	ENST00000392793.1	+	14	4954	c.4683G>A	c.(4681-4683)acG>acA	p.T1561T	TECTA_ENST00000264037.2_Silent_p.T1561T			O75443	TECTA_HUMAN	tectorin alpha	1561	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCGGAACACGGTCAAGGTAA	0.532000													13	14					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55336669	55336669	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr18:55336669C>T	ENST00000536015.1	-	18	2097	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.E660K	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	660			Missing (in PFIC1).		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)				TCTTCAATTTCCTTGTAGCAA	0.343000													9	27					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33938557	33938557	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr15:33938557G>A	ENST00000389232.4	+	29	3841	c.3771G>A	c.(3769-3771)atG>atA	p.M1257I	RYR3_ENST00000415757.3_Missense_Mutation_p.M1257I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1257	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGGTCATGAGGATTGATG	0.512000													24	88					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21147655	21147655	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr16:21147655C>T	ENST00000261383.3	-	6	875	c.876G>A	c.(874-876)atG>atA	p.M292I	DNAH3_ENST00000415178.1_Missense_Mutation_p.M292I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	292	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)		CGATGCTTTTCATGAGGCTAC	0.483000													28	78					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966991	41966991	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:41966991G>A	ENST00000298919.7	+	10	2018	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	PDZRN4_ENST00000539469.2_Missense_Mutation_p.A546T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.A804T			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	804							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGGTTGTAGCGCTGAAAGCAA	0.517000													31	95					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75500062	75500062	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr15:75500062C>T	ENST00000360639.2	+	2	1993	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L	C15orf39_ENST00000567617.1_Missense_Mutation_p.P558L|C15orf39_ENST00000394987.4_Missense_Mutation_p.P558L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	558										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGGAGGGCCCCTCAGGGAGT	0.622000													5	10					0	0	1	0	0
H3F3B	3021	broad.mit.edu	37	17	73775131	73775131	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:73775131T>C	ENST00000254810.4	-	2	257	c.125A>G	c.(124-126)tAc>tGc	p.Y42C	H3F3B_ENST00000589599.1_Missense_Mutation_p.Y42C|H3F3B_ENST00000591890.1_Missense_Mutation_p.Y42C|H3F3B_ENST00000592643.1_Missense_Mutation_p.Y42C|H3F3B_ENST00000587560.1_Missense_Mutation_p.Y42C|H3F3B_ENST00000586607.1_Missense_Mutation_p.Y42C|H3F3B_ENST00000593254.1_Intron	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	42					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACCTACCTGTAGCGATGAGG	0.687000											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	7					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134987535	134987535	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:134987535G>A	ENST00000535938.1	+	5	605	c.438G>A	c.(436-438)atG>atA	p.M146I	SAGE1_ENST00000370709.3_Missense_Mutation_p.M146I|SAGE1_ENST00000537770.1_Missense_Mutation_p.M146I|SAGE1_ENST00000324447.3_Missense_Mutation_p.M146I	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	146										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TTCCATCCATGAGTACCAGGG	0.423000													41	4					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143094931	143094931	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:143094931C>T	ENST00000513000.1	-	17	1646	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	INPP4B_ENST00000262992.4_Missense_Mutation_p.E405K|INPP4B_ENST00000509777.1_Missense_Mutation_p.E405K|INPP4B_ENST00000308502.4_Missense_Mutation_p.E405K|INPP4B_ENST00000508116.1_Missense_Mutation_p.E405K	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	405					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCTGTGTTTTCAGGTGAATAG	0.383000													32	67					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32692602	32692602	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:32692602G>T	ENST00000421745.2	+	27	5500	c.5366G>T	c.(5365-5367)aGa>aTa	p.R1789I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1789					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.R1761I(1)|p.R1789I(1)		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)					GGAGCAAGAAGATTTGTGACC	0.348000													17	27					5.3912e-06	5.63148e-06	1	1	0
NR1I3	9970	broad.mit.edu	37	1	161200542	161200542	+	Silent	SNP	A	A	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:161200542A>G	ENST00000506209.1	-	7	1033	c.891T>C	c.(889-891)caT>caC	p.H297H	NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000479324.1_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367982.4_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367983.4_Intron|NR1I3_ENST00000367980.2_Intron|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000508740.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCAAGCTCAATGTTTCACCA	0.552000													8	31					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025197	79025197	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:79025197G>A	ENST00000446378.2	+	2	640	c.609G>A	c.(607-609)ccG>ccA	p.P203P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	203						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATACACCTCCGATTACTGGGG	0.358000													7	17					0	0	1	0	0
EIF2A	83939	broad.mit.edu	37	3	150289864	150289864	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:150289864G>C	ENST00000460851.1	+	10	1040	c.931G>C	c.(931-933)Gac>Cac	p.D311H	EIF2A_ENST00000383043.3_Missense_Mutation_p.D97H|EIF2A_ENST00000406576.3_Missense_Mutation_p.D250H|EIF2A_ENST00000487799.1_Missense_Mutation_p.D286H|EIF2A_ENST00000273435.5_Missense_Mutation_p.D306H|SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	311					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCCTGTATTTGACTTTGGAAC	0.393000													18	25					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92028201	92028201	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:92028201G>C	ENST00000265742.3	+	20	3584	c.3208G>C	c.(3208-3210)Gat>Cat	p.D1070H		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	1070							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATGGTTCAGATGTTTCAAG	0.443000													10	1					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78387364	78387364	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:78387364C>G	ENST00000278550.7	-	30	5791	c.5329G>C	c.(5329-5331)Gag>Cag	p.E1777Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AGCGCCACCTCCATGCCGTTG	0.627000													19	12					0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47700667	47700667	+	Silent	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr20:47700667C>G	ENST00000262982.2	+	15	1710	c.1587C>G	c.(1585-1587)ctC>ctG	p.L529L	CSE1L_ENST00000396192.3_Silent_p.L473L|CSE1L_ENST00000542325.1_Silent_p.L312L	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	529					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTGAACGGCTCTTTACTATGC	0.408000													13	54					0	0	1	0	0
PURA	5813	broad.mit.edu	37	5	139494276	139494276	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:139494276C>T	ENST00000331327.3	+	1	569	c.510C>T	c.(508-510)atC>atT	p.I170I		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	170					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGCGCATCCGCCAGACGG	0.677000													6	15					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113780316	113780316	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:113780316G>C	ENST00000259213.4	-	6	537	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	144					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TTCTTCCTGAGATGGTGATGT	0.438000													26	36					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149906931	149906931	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:149906931C>T	ENST00000439741.2	-	5	666	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	MTMR11_ENST00000406732.3_Missense_Mutation_p.R111Q|MTMR11_ENST00000369140.3_Missense_Mutation_p.R67Q|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.R139Q	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	139							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCTGAGCAGCCGGAAGTCTCG	0.552000													25	38					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	rs67389650		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	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_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_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)			9	1					0	0	1	0	0
RAB12	201475	broad.mit.edu	37	18	8633277	8633277	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr18:8633277G>C	ENST00000329286.6	+	3	661	c.378G>C	c.(376-378)aaG>aaC	p.K126N		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	126					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						ATATCACTAAGAAGGAGACAT	0.378000													31	90					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92790184	92790184	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr14:92790184C>T	ENST00000532405.1	+	1	236	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C	SLC24A4_ENST00000393265.2_Intron|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R4C			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	4						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GATGGCGCTCCGCGGGACCCT	0.701000													3	3					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016601	58016601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:58016601G>T	ENST00000379218.2	+	6	1134	c.823G>T	c.(823-825)Gag>Tag	p.E275*	SLC26A10_ENST00000320442.4_Nonsense_Mutation_p.E275*			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	275						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CAACCTGGCTGAGCTGCCCAG	0.557000													5	31					3.59834e-05	3.70708e-05	1	1	0
ING5	84289	broad.mit.edu	37	2	242662634	242662634	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:242662634G>A	ENST00000313552.6	+	7	654	c.628G>A	c.(628-630)Gag>Aag	p.E210K	ING5_ENST00000406941.1_Missense_Mutation_p.E210K	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	210					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GTGTCCAATTGAGTGGTTTCA	0.517000													39	121					0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	27954794	27954794	+	Silent	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr8:27954794G>C	ENST00000256398.8	+	2	455	c.78G>C	c.(76-78)ctG>ctC	p.L26L	ELP3_ENST00000542181.1_5'UTR|ELP3_ENST00000524103.1_Intron|ELP3_ENST00000380353.4_5'UTR|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000537665.1_Intron|ELP3_ENST00000521015.1_Silent_p.L12L	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	26					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTAAACAACTGATTGAAGCCC	0.383000													15	20					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344479	20344479	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr14:20344479C>G	ENST00000298642.2	+	1	89	c.53C>G	c.(52-54)tCt>tGt	p.S18C		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGGGCTCTCTAATTCCTGG	0.383000													31	136					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72383916	72383916	+	Nonstop_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:72383916G>C	ENST00000430046.2	+	26	2548	c.2432G>C	c.(2431-2433)tGa>tCa	p.*811S	FCHO2_ENST00000341845.6_Nonstop_Mutation_p.*811S|FCHO2_ENST00000512348.1_Nonstop_Mutation_p.*778S	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	0										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GCGGATTGTTGATGGACCTGG	0.408000													7	14					0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110763652	110763652	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:110763652C>T	ENST00000317735.4	+	6	782	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	250					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CTGCATGTTTCTGGTGGCATG	0.398000													26	69					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1579345	1579345	+	Silent	SNP	C	C	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:1579345C>A	ENST00000572621.1	-	17	2821	c.2556G>T	c.(2554-2556)gtG>gtT	p.V852V	PRPF8_ENST00000304992.6_Silent_p.V852V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	852						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACCGAGACTTCACACTGACAA	0.532000													15	16					4.75885e-15	5.1877e-15	1	1	0
UNC13A	23025	broad.mit.edu	37	19	17759246	17759246	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:17759246G>A	ENST00000428389.2	-	17	2073	c.2074C>T	c.(2074-2076)Ctg>Ttg	p.L692L	UNC13A_ENST00000551649.1_Silent_p.L604L|UNC13A_ENST00000519716.2_Silent_p.L604L|UNC13A_ENST00000550896.1_Silent_p.L602L|UNC13A_ENST00000252773.7_Silent_p.L604L|UNC13A_ENST00000552293.1_Silent_p.L604L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	604	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCACGCTGCAGGCAGTCGGCG	0.701000													7	4					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125250	12125250	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:12125250C>T	ENST00000379388.2	+	4	5554	c.5222C>T	c.(5221-5223)tCa>tTa	p.S1741L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1741					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAAGAATCTTCAGCTTCGAGT	0.413000													15	48					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792634	143792634	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:143792634C>T	ENST00000408949.2	+	1	494	c.434C>T	c.(433-435)tCa>tTa	p.S145L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTCCTGGCCTCAACTTGCTGG	0.448000													20	91					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99764213	99764213	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:99764213G>A	ENST00000360039.4	-	3	733	c.341C>T	c.(340-342)tCt>tTt	p.S114F	GAL3ST4_ENST00000411994.1_Intron|GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S114F|GAL3ST4_ENST00000426974.2_Intron	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	114					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTTACCCTAGAGGCCTGGAA	0.602000													19	119					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395565	154395565	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:154395565G>T	ENST00000435029.4	+	1	2306	c.2146G>T	c.(2146-2148)Gat>Tat	p.D716Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	716	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCGACTCAAGGATGCTCTCCA	0.478000													22	19					6.44725e-10	6.92756e-10	1	1	0
EPN1	29924	broad.mit.edu	37	19	56206537	56206537	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:56206537G>A	ENST00000411543.2	+	11	2351	c.1804G>A	c.(1804-1806)Gtc>Atc	p.V602I	EPN1_ENST00000085079.7_Missense_Mutation_p.V490I|EPN1_ENST00000270460.6_Missense_Mutation_p.V516I	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	516					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		TGGCCCTTCCGTCACCAACCC	0.657000													11	32					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218646	244218646	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:244218646G>C	ENST00000358704.4	+	2	1719	c.1570G>C	c.(1570-1572)Gat>Cat	p.D524H		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		GACCTTAGAAGATAGCTCTCA	0.348000													18	55					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140449838	140449838	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr9:140449838C>T	ENST00000277540.2	-	9	1369	c.1212G>A	c.(1210-1212)agG>agA	p.R404R	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		TGCCATTCTTCCTCATGCCCT	0.587000													17	2					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31855682	31855682	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:31855682C>T	ENST00000396184.3	-	16	1873	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396182.2_Missense_Mutation_p.E557K|PDE1C_ENST00000396193.1_Missense_Mutation_p.E617K|PDE1C_ENST00000321453.7_Missense_Mutation_p.E557K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E557K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	557					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCGCCTTCTTCAGCCTGGCTT	0.512000													45	175					0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91013777	91013777	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr8:91013777C>T	ENST00000220764.2	+	1	145	c.57C>T	c.(55-57)ctC>ctT	p.L19L	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_5'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	19					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)			CCTGTGGCCTCGCTCCTCGGA	0.697000											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	20					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9459638	9459638	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:9459638G>A	ENST00000379719.3	+	22	2643	c.2501G>A	c.(2500-2502)aGa>aAa	p.R834K		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	834					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTTCATGACAGAAAGATGTGT	0.318000													28	44					0	0	1	0	0
CCDC89	220388	broad.mit.edu	37	11	85396552	85396552	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:85396552C>T	ENST00000316398.3	-	1	768	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	208						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGCTCCTTCTCGCGCGCCTGT	0.612000													4	71					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145428766	145428766	+	Missense_Mutation	SNP	G	G	C	rs146377978		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:145428766G>C	ENST00000511217.1	+	6	1332	c.1280G>C	c.(1279-1281)cGa>cCa	p.R427P	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R427P			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	427	SH3 3.						ligase activity|protein phosphatase 1 binding|zinc ion binding	p.R427L(1)		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)			GTCACCGGGCGAGTCGGCATC	0.612000											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	36					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618120	52618120	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:52618120C>G	ENST00000600228.1	-	4	2558	c.2297G>C	c.(2296-2298)aGa>aCa	p.R766T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	766					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R766T(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TCCAGTATGTCTTATTCGATG	0.378000													18	84					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31062300	31062300	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr21:31062300C>T	ENST00000399914.1	-	3	813	c.292G>A	c.(292-294)Gac>Aac	p.D98N	GRIK1_ENST00000389124.2_Missense_Mutation_p.D98N|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000535441.1_Missense_Mutation_p.D98N|GRIK1_ENST00000309434.7_Missense_Mutation_p.D98N|GRIK1_ENST00000399909.1_Missense_Mutation_p.D98N|GRIK1_ENST00000399907.1_Missense_Mutation_p.D98N|GRIK1_ENST00000389125.3_Missense_Mutation_p.D98N|GRIK1_ENST00000399913.1_Missense_Mutation_p.D98N|GRIK1_ENST00000327783.4_Missense_Mutation_p.D98N			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	98					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCCAGCTGGTCACATGCTGAT	0.498000													14	46					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32692709	32692709	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:32692709G>C	ENST00000421745.2	+	27	5607	c.5473G>C	c.(5473-5475)Gag>Cag	p.E1825Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1825					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.E1825Q(1)|p.E1797Q(1)		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)					ATTAGGAGAAGAGGTGGATGG	0.438000													17	16					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15711999	15711999	+	Silent	SNP	C	C	T	rs75898822		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:15711999C>T	ENST00000399451.2	-	28	3307	c.2940G>A	c.(2938-2940)ttG>ttA	p.L980L	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.L1013L	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	980						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TCATGGTGGCCAAAATGAGAG	0.408000													15	90					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36431529	36431529	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:36431529G>A	ENST00000588831.1	+	3	2256	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	LRFN3_ENST00000246529.3_Missense_Mutation_p.R401Q			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	401					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACCCCCCGCGGGACGGGGAT	0.682000													22	84					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20107215	20107215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:20107215G>A	ENST00000294543.6	-	4	278	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	TMCO4_ENST00000375122.2_Nonsense_Mutation_p.Q13*|TMCO4_ENST00000375127.1_Nonsense_Mutation_p.Q13*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607000													16	12					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41071430	41071430	+	Missense_Mutation	SNP	G	G	A	rs139699793	byFrequency	TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:41071430G>A	ENST00000352632.3	+	28	6103	c.6017G>A	c.(6016-6018)cGa>cAa	p.R2006Q	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R2006Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R2006Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R749Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2006					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.R2006P(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGCTGGGGCGATCTCTGCTG	0.632000													13	15					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813154	158813154	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:158813154C>T	ENST00000368141.4	+	3	612	c.351C>T	c.(349-351)acC>acT	p.T117T		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	117					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CTGCACCCACCGCAAGAAACA	0.443000													8	13					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998068	27998068	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:27998068C>T	ENST00000441525.1	-	1	1498	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	462										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CAGAAGAAGACGTGCCCACAA	0.463000													14	0					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	55					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99020201	99020201	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:99020201C>G	ENST00000299157.4	-	3	1014	c.641G>C	c.(640-642)aGa>aCa	p.R214T	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	215					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTTTACTGTTCTAATATTTCT	0.393000													16	61					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57089390	57089390	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr16:57089390C>T	ENST00000436936.1	+	27	3930	c.3705C>T	c.(3703-3705)ctC>ctT	p.L1235L	NLRC5_ENST00000262510.6_Silent_p.L1235L|NLRC5_ENST00000308149.7_Intron|NLRC5_ENST00000539144.1_Intron|RP11-322D14.2_ENST00000562970.1_RNA			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1235					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TAGAGTCACTCTGCTGGTTGC	0.597000													10	18					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95480952	95480952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr9:95480952G>A	ENST00000356884.6	-	5	2042	c.1975C>T	c.(1975-1977)Cag>Tag	p.Q659*	BICD2_ENST00000375512.3_Nonsense_Mutation_p.Q659*	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	659					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCCAGCTCCTGAGAGGCAATG	0.602000													57	73					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26885845	26885845	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:26885845C>T	ENST00000231021.4	-	11	1932	c.1760G>A	c.(1759-1761)cGt>cAt	p.R587H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	587	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGCACACACACGGATAGTGAG	0.483000													6	18					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121164874	121164874	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:121164874C>T	ENST00000242592.4	+	2	243	c.92C>T	c.(91-93)tCt>tTt	p.S31F	ACADS_ENST00000411593.2_Missense_Mutation_p.S31F	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	31						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	ATCTACCAGTCTGTGGAACTG	0.567000													66	62					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552184	100552184	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:100552184C>T	ENST00000319509.7	+	1	935	c.935C>T	c.(934-936)tCt>tTt	p.S312F						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACCCCCTTTTCTTATATTTCC	0.483000													39	434					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1647823	1647823	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:1647823C>G	ENST00000356200.3	-	4	582	c.348G>C	c.(346-348)aaG>aaC	p.K116N	RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_Missense_Mutation_p.K140N|CDK11A_ENST00000378633.1_Missense_Mutation_p.K140N|CDK11A_ENST00000378638.2_Missense_Mutation_p.K116N|CDK11A_ENST00000404249.3_Missense_Mutation_p.K150N|CDK11A_ENST00000358779.5_Missense_Mutation_p.K140N|CDK11A_ENST00000357760.2_Missense_Mutation_p.K140N					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TTTCCCTTCTCTTCTGTCTTT	0.507000													10	117					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	95034742	95034742	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr13:95034742C>T	ENST00000377047.4	+	7	1842	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	409						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCTGCAAGGACGAGAGCGTGA	0.517000													10	64					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410218	105410218	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr14:105410218G>A	ENST00000333244.5	-	7	11689	c.11570C>T	c.(11569-11571)tCt>tTt	p.S3857F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3857						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGGTCGGCAGAATGGGGCTG	0.637000													35	93					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1553955	1553955	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:1553955G>A	ENST00000534940.1	-	5	411	c.186C>T	c.(184-186)agC>agT	p.S62S	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Silent_p.S44S|ASMTL_ENST00000381333.4_Silent_p.S104S|ASMTL_ENST00000381317.3_Silent_p.S120S	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	120	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				CTGTGAACACGCTGTGTTCTC	0.587000													4	24					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10100747	10100747	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:10100747C>T	ENST00000382452.2	-	4	528	c.246G>A	c.(244-246)ctG>ctA	p.L82L	WDR1_ENST00000499869.2_Silent_p.L82L|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	82					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCAGATCCTCAGCTTCCCAG	0.597000													4	31					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21357246	21357246	+	RNA	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr22:21357246C>T	ENST00000452284.1	+	0	622				THAP7-AS1_ENST00000429962.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NR_027051.1																						TCTTCATAATCCTCCAGAGCT	0.587000													29	30					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863212	6863212	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:6863212G>A	ENST00000307659.5	+	7	1558	c.1103G>A	c.(1102-1104)aGa>aAa	p.R368K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.R368K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	368							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CGGGGTAAGAGACCTTTAAAA	0.448000													19	91					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123215341	123215341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:123215341C>T	ENST00000371160.1	+	28	3177	c.2887C>T	c.(2887-2889)Cag>Tag	p.Q963*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q963*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q963*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q963*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q963*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q894*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	963					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						TGGACTTGATCAGTTGAAAAC	0.313000													61	6					0	0	1	0	0
KCTD6	200845	broad.mit.edu	37	3	58484490	58484490	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:58484490A>G	ENST00000355076.6	+	1	991	c.8A>G	c.(7-9)aAt>aGt	p.N3S	KCTD6_ENST00000490264.1_Missense_Mutation_p.N3S|KCTD6_ENST00000404589.3_Missense_Mutation_p.N3S|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	3						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		CAGATGGATAATGGAGACTGG	0.388000													50	57					0	0	1	0	0
ECHDC1	55862	broad.mit.edu	37	6	127611357	127611357	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:127611357C>T	ENST00000531967.1	-	6	1084	c.581G>A	c.(580-582)gGt>gAt	p.G194D	ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.G171D|ECHDC1_ENST00000430841.2_Missense_Mutation_p.G188D|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000474289.2_Missense_Mutation_p.G188D|ECHDC1_ENST00000454859.3_Missense_Mutation_p.G188D|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454591.2_Missense_Mutation_p.G113D|ECHDC1_ENST00000488087.1_5'UTR	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	194							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GGTGGTGCCACCCCAGCTTGG	0.413000													8	59					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256925	140256925	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:140256925A>G	ENST00000398631.2	+	1	1868	c.1868A>G	c.(1867-1869)cAc>cGc	p.H623R	PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCGTTCCACGTGGGGCTG	0.667000													33	28					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123526111	123526111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:123526111G>A	ENST00000422452.2	-	28	5542	c.5479C>T	c.(5479-5481)Cga>Tga	p.R1827*	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Nonsense_Mutation_p.R1820*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAAAGAATTCGAAGGGTGAAT	0.428000													34	23					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99020344	99020344	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:99020344C>T	ENST00000299157.4	-	3	871	c.498G>A	c.(496-498)atG>atA	p.M166I	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	168					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TATTAATGTTCATTTCTTCTA	0.338000													19	63					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30515574	30515574	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr16:30515574G>A	ENST00000356798.6	+	18	2404	c.2224G>A	c.(2224-2226)Gac>Aac	p.D742N	ITGAL_ENST00000358164.5_Missense_Mutation_p.D659N|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	742					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GACACCGAGGGACCAAAGGGC	0.522000													17	26					0	0	1	0	0
ZBED2	79413	broad.mit.edu	37	3	111312457	111312457	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:111312457C>T	ENST00000317012.4	-	2	1600	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	198							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GCCTCCTTCTCAGCCCTCACC	0.532000													17	48					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98548541	98548541	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:98548541G>A	ENST00000359863.4	+	38	5565	c.5356G>A	c.(5356-5358)Gag>Aag	p.E1786K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E1767K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E1768K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1786					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTACAGCTTTGAGAAGGGGGA	0.408000													49	267					0	0	1	0	0
SMS	6611	broad.mit.edu	37	X	21985322	21985322	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:21985322G>A	ENST00000404933.2	+	2	310	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SMS_ENST00000379404.1_Missense_Mutation_p.E20K|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000415881.2_5'UTR	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	20					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	AGCTGATGGTGAGACCATTCT	0.498000													10	18					0	0	1	0	0
EMC3	55831	broad.mit.edu	37	3	10019116	10019116	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:10019116C>T	ENST00000245046.2	-	2	628	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	EMC3_ENST00000429759.1_Missense_Mutation_p.R95Q|EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3																		GACTCTGCTTCGAATTAGGAC	0.353000													3	14					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44151899	44151899	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:44151899C>T	ENST00000223357.3	+	17	2501	c.2196C>T	c.(2194-2196)cgC>cgT	p.R732R	AEBP1_ENST00000450684.2_Silent_p.R307R	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	732	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TCCCTGAACGCTACCTTTCGC	0.602000													8	51					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30927599	30927599	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr21:30927599G>C	ENST00000399914.1	-	15	2857	c.2336C>G	c.(2335-2337)aCt>aGt	p.T779S	GRIK1_ENST00000389124.2_Missense_Mutation_p.T794S|GRIK1_ENST00000535441.1_Missense_Mutation_p.T796S|GRIK1_ENST00000309434.7_Missense_Mutation_p.T796S|GRIK1_ENST00000399909.1_Missense_Mutation_p.T779S|GRIK1_ENST00000399907.1_Missense_Mutation_p.T794S|GRIK1_ENST00000389125.3_Missense_Mutation_p.T779S|GRIK1_ENST00000399913.1_Missense_Mutation_p.T794S|GRIK1_ENST00000327783.4_Missense_Mutation_p.T794S			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	794					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AATAGCAATAGTAATTTTATC	0.418000													32	90					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382529	56382529	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:56382529C>T	ENST00000355701.3	-	30	6307	c.5437G>A	c.(5437-5439)Gaa>Aaa	p.E1813K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1753K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1813K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1813	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATTTAATTCCCCCTGGAGA	0.627000													10	12					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95552644	95552644	+	Silent	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:95552644G>C	ENST00000371418.4	+	6	908	c.648G>C	c.(646-648)tcG>tcC	p.S216S	LGI1_ENST00000371413.3_Silent_p.S216S|LGI1_ENST00000542308.1_Silent_p.S168S	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	216	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTCTCTCCTCGAAGGATTTTG	0.418000													20	87					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33614798	33614798	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:33614798C>A	ENST00000399362.4	-	26	2880	c.2527G>T	c.(2527-2529)Gat>Tat	p.D843Y	CLASP2_ENST00000359576.5_Missense_Mutation_p.D835Y|CLASP2_ENST00000539981.1_Missense_Mutation_p.D613Y|CLASP2_ENST00000480013.1_Missense_Mutation_p.D623Y|CLASP2_ENST00000307312.7_Missense_Mutation_p.D324Y|CLASP2_ENST00000468888.2_Missense_Mutation_p.D844Y|CLASP2_ENST00000461133.3_Missense_Mutation_p.D602Y	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	844										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGGCGTCATCATCTGAATGC	0.393000													22	67					5.26018e-13	5.71758e-13	1	1	0
APOBEC2	10930	broad.mit.edu	37	6	41029374	41029374	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr6:41029374C>G	ENST00000244669.2	+	2	483	c.439C>G	c.(439-441)Ctg>Gtg	p.L147V		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	147					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAACCTGCGTCTGCTCATTCT	0.552000													57	60					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11308601	11308601	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:11308601G>C	ENST00000379261.4	+	6	650	c.558G>C	c.(556-558)caG>caC	p.Q186H	CELF2_ENST00000609692.1_Missense_Mutation_p.Q162H|CELF2_ENST00000416382.2_Missense_Mutation_p.Q186H|CELF2_ENST00000399850.3_Missense_Mutation_p.Q162H|CELF2_ENST00000315874.4_Missense_Mutation_p.Q162H|CELF2_ENST00000542579.1_Missense_Mutation_p.Q193H|CELF2_ENST00000354897.3_Missense_Mutation_p.Q162H|CELF2_ENST00000427450.1_Missense_Mutation_p.Q162H|CELF2_ENST00000537122.1_Missense_Mutation_p.Q75H|CELF2_ENST00000417956.2_Missense_Mutation_p.Q162H|CELF2_ENST00000354440.2_Missense_Mutation_p.Q162H|CELF2_ENST00000450189.1_Missense_Mutation_p.Q193H|CELF2_ENST00000608830.1_Missense_Mutation_p.Q162H	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	186	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CAATGGCACAGAATGCAATCA	0.448000													28	20					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28424337	28424337	+	Silent	SNP	T	T	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr15:28424337T>C	ENST00000261609.7	-	58	9078	c.8970A>G	c.(8968-8970)tcA>tcG	p.S2990S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2990					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATTCAAAGCTGACAGTGTCT	0.294000													58	55					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37351334	37351334	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:37351334G>T	ENST00000231498.3	-	6	884	c.681C>A	c.(679-681)ttC>ttA	p.F227L	NUP155_ENST00000513532.1_Missense_Mutation_p.F227L|NUP155_ENST00000381843.2_Missense_Mutation_p.F168L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	227					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCCAGCCAAGAAAATTCTGC	0.368000													22	41					3.6726e-16	4.01524e-16	1	1	0
SETD7	80854	broad.mit.edu	37	4	140450296	140450296	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:140450296C>T	ENST00000274031.3	-	4	1087	c.451G>A	c.(451-453)Gag>Aag	p.E151K	SETD7_ENST00000506866.2_Missense_Mutation_p.E151K	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	151					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					GCGGTCCTCTCATCAGGGTAC	0.458000													35	76					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105503122	105503122	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr8:105503122C>T	ENST00000276654.5	-	7	2467	c.2359G>A	c.(2359-2361)Gat>Aat	p.D787N	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.D768N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	787					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCATTCACATCAAAGTCTGAA	0.418000													4	112					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358553	178358553	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:178358553G>C	ENST00000361362.2	+	5	769	c.239G>C	c.(238-240)gGa>gCa	p.G80A	ZFP2_ENST00000503510.2_Missense_Mutation_p.G80A|ZFP2_ENST00000520301.1_Missense_Mutation_p.G80A|ZFP2_ENST00000523286.1_Missense_Mutation_p.G80A	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AATTCACATGGAGAAGATGCC	0.368000													12	31					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282181	130282181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:130282181C>T	ENST00000358511.6	+	2	365	c.334C>T	c.(334-336)Cag>Tag	p.Q112*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Q112*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	112	Nonhelical region.|VWFA 1.				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						AAAGGCTCTTCAGGAGGCTCA	0.512000													13	14					0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178358580	178358580	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:178358580C>T	ENST00000264595.2	-	5	728	c.601G>A	c.(601-603)Gat>Aat	p.D201N	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	201					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TGACCACGATCATCTTCTGTT	0.368000													9	17					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618285	122618285	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:122618285G>A	ENST00000319080.7	+	9	1615	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	MLXIP_ENST00000377037.2_Missense_Mutation_p.D85N|MLXIP_ENST00000538698.1_Missense_Mutation_p.D102N			Q9HAP2	MLXIP_HUMAN	MLX interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCTCACCCACGATGCCCCCGC	0.642000													8	7					0	0	1	0	0
MEST	4232	broad.mit.edu	37	7	130137015	130137015	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:130137015G>A	ENST00000223215.4	+	3	421	c.200G>A	c.(199-201)gGa>gAa	p.G67E	MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Missense_Mutation_p.G67E|MEST_ENST00000416162.2_Missense_Mutation_p.G58E|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.G58E|MEST_ENST00000341441.5_Missense_Mutation_p.G58E|MEST_ENST00000378576.4_Missense_Mutation_p.G58E	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	67					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)					GGTGTGGTTGGAAGTCCAGAG	0.383000													17	91					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177093565	177093565	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:177093565G>A	ENST00000393643.2	+	25	3439	c.3187G>A	c.(3187-3189)Gag>Aag	p.E1063K	WDR17_ENST00000280190.4_Missense_Mutation_p.E1087K|WDR17_ENST00000507824.2_Missense_Mutation_p.E1062K|WDR17_ENST00000508596.1_Missense_Mutation_p.E1048K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1087										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)		GCAGTTAGCTGAGACAGCCCG	0.333000													10	28					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65681621	65681621	+	Splice_Site	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr15:65681621C>T	ENST00000352385.2	-	14	2746		c.e14+1			NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4							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						GAGCCACTCACGGTCAGGCAG	0.567000													4	9					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482235	178482235	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:178482235C>T	ENST00000355689.5	-	1	1459	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TGTCTTGCTTCCTGTACTTGC	0.458000													56	134					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187097	27187097	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:27187097G>A	ENST00000222728.3	-	1	296	c.272C>T	c.(271-273)tCg>tTg	p.S91L	RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'UTR	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	91						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GCCACTGCCCGAGGGCGAGGC	0.622000													14	41					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7984228	7984228	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:7984228C>T	ENST00000543909.1	-	9	1072	c.313G>A	c.(313-315)Gtc>Atc	p.V105I	SLC2A14_ENST00000431042.2_Missense_Mutation_p.V82I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.V120I|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V82I|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V105I|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	105					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AAGAGTCCGACGGAAAAGGAG	0.537000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324936	31324936	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr18:31324936G>A	ENST00000269197.5	+	12	5124	c.5124G>A	c.(5122-5124)atG>atA	p.M1708I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1708			M -> V (in dbSNP:rs7232237).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACAGAACATGAAAGCTTCCA	0.552000													24	29					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77256789	77256789	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:77256789C>T	ENST00000248594.6	+	13	2065	c.1793C>T	c.(1792-1794)aCt>aTt	p.T598I	PTPN12_ENST00000435495.2_Missense_Mutation_p.T468I|PTPN12_ENST00000415482.2_Missense_Mutation_p.T479I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	598						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CTCAGTTTTACTAATCCACTT	0.408000													21	171					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5812933	5812933	+	Missense_Mutation	SNP	G	G	A	rs151153615		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr9:5812933G>A	ENST00000339450.5	-	5	1066	c.977C>T	c.(976-978)tCa>tTa	p.S326L	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.S102L	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	326					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTCAGTATCTGAAGGAATGAT	0.408000													15	28					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396962	154396962	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:154396962G>C	ENST00000435029.4	+	1	3703	c.3543G>C	c.(3541-3543)aaG>aaC	p.K1181N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1181	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCTGTCAAAGAAGACTGCTC	0.502000													9	25					0	0	1	0	0
C12orf52	84934	broad.mit.edu	37	12	113629186	113629186	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:113629186G>A	ENST00000548278.1	+	4	1066	c.374G>A	c.(373-375)gGg>gAg	p.G125E	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Missense_Mutation_p.G125E|C12orf52_ENST00000552495.1_Missense_Mutation_p.G149E	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	125					negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCCAGCTTCGGGGCCCCGCGG	0.642000													17	17					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138703239	138703239	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr9:138703239G>A	ENST00000389532.4	-	17	4789	c.4725C>T	c.(4723-4725)gtC>gtT	p.V1575V	CAMSAP1_ENST00000312405.6_Silent_p.V1297V|CAMSAP1_ENST00000409386.3_Silent_p.V1586V|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1575	CKK.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGTCCACACTGACAGACATGG	0.517000													3	4					0	0	1	0	0
TMEM147	10430	broad.mit.edu	37	19	36037609	36037609	+	Silent	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr19:36037609G>C	ENST00000392204.2	+	3	424	c.96G>C	c.(94-96)ctG>ctC	p.L32L	TMEM147_ENST00000222284.5_Silent_p.L81L|TMEM147_ENST00000392205.1_Silent_p.L81L	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	81						endoplasmic reticulum membrane|integral to membrane	protein binding	p.L81L(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	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)			TGGCAGACCTGATAGGTCTAA	0.562000													26	51					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120054244	120054244	+	Silent	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:120054244C>G	ENST00000235547.6	+	3	409	c.270C>G	c.(268-270)gtC>gtG	p.V90V	HSD3B1_ENST00000528909.1_Silent_p.V88V|HSD3B1_ENST00000369413.3_Silent_p.V88V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	88			G -> S (in dbSNP:rs6684974).		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)	TCATTGATGTCTTCGGTGTCA	0.502000													10	44					0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46239025	46239025	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr22:46239025G>A	ENST00000252934.5	+	11	1657	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L	ATXN10_ENST00000381061.4_Silent_p.L400L|ATXN10_ENST00000402380.3_Silent_p.L115L	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	0					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GCGAAAAGCTGATCCTGAAAT	0.448000													11	68					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142222229	142222229	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:142222229G>T	ENST00000350721.4	-	30	5384	c.5263C>A	c.(5263-5265)Cag>Aag	p.Q1755K	ATR_ENST00000383101.3_Missense_Mutation_p.Q1691K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1755	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCATTCACCTGAGTGATAACA	0.294000								Other conserved DNA damage response genes					9	20					4.68919e-08	4.95337e-08	1	1	0
SOX5	6660	broad.mit.edu	37	12	23687199	23687199	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:23687199T>A	ENST00000546136.1	-	14	2209	c.2207A>T	c.(2206-2208)gAt>gTt	p.D736V	SOX5_ENST00000396007.2_Missense_Mutation_p.D363V|SOX5_ENST00000451604.2_Missense_Mutation_p.D749V|SOX5_ENST00000545921.1_Missense_Mutation_p.D739V|SOX5_ENST00000309359.1_Missense_Mutation_p.D736V|SOX5_ENST00000381381.2_Missense_Mutation_p.D628V|SOX5_ENST00000541536.1_Missense_Mutation_p.D628V|SOX5_ENST00000537393.1_Missense_Mutation_p.D714V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	749					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACTCCCATAATCTACATCTGG	0.428000													42	104					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64701791	64701791	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr14:64701791C>A	ENST00000557772.1	-	7	1302	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y	ESR2_ENST00000554572.1_Missense_Mutation_p.D435Y|ESR2_ENST00000555278.1_Missense_Mutation_p.D435Y|ESR2_ENST00000357782.2_Missense_Mutation_p.D435Y|ESR2_ENST00000267525.6_Missense_Mutation_p.D344Y|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000353772.3_Missense_Mutation_p.D435Y|ESR2_ENST00000542956.1_Missense_Mutation_p.D435Y|ESR2_ENST00000358599.5_Missense_Mutation_p.D435Y|ESR2_ENST00000341099.4_Missense_Mutation_p.D435Y|ESR2_ENST00000553796.1_Missense_Mutation_p.D435Y	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	435	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ACCAAAGCATCGGTCACGGCG	0.572000													7	24					0.27861	0.27861	1	1	0
LCP1	3936	broad.mit.edu	37	13	46721099	46721099	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr13:46721099C>G	ENST00000398576.2	-	13	1506	c.1118G>C	c.(1117-1119)aGa>aCa	p.R373T	LCP1_ENST00000323076.2_Missense_Mutation_p.R373T			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	373	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	p.R373I(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGCAGGGTATCTGTTAAAGAG	0.522000			T	BCL6	NHL								20	99					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78470867	78470867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:78470867C>T	ENST00000370763.5	+	1	330	c.73C>T	c.(73-75)Cga>Tga	p.R25*	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	25	J.				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AAAGGCTTACCGAAAACAAGC	0.373000													26	86					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002709	132002709	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr8:132002709C>T	ENST00000286355.5	-	2	3132	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ADCY8_ENST00000377928.3_Missense_Mutation_p.R347H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	347					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAAAGCTTGGCGCTGGGCCCG	0.522000										HNSCC(32;0.087)			128	50					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237948027	237948027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:237948027C>T	ENST00000366574.2	+	90	13332	c.13015C>T	c.(13015-13017)Cag>Tag	p.Q4339*	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q4323*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q4345*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4339					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)			AGACCCCACTCAGGATGAGGT	0.552000													31	25					0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129156119	129156119	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:129156119G>A	ENST00000429544.2	-	3	563	c.368C>T	c.(367-369)tCa>tTa	p.S123L	MBD4_ENST00000249910.1_Missense_Mutation_p.S123L|MBD4_ENST00000503197.1_Missense_Mutation_p.S123L|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.S123L	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	123	MBD.				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATTAGCAAGTGAACTTTTGGA	0.338000								Base excision repair (BER), DNA glycosylases					9	34					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124422150	124422150	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:124422150G>A	ENST00000545135.1	-	3	3696	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	CCDC92_ENST00000545891.1_Missense_Mutation_p.R134W|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Missense_Mutation_p.R151W			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	151										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GTGCTGGCCCGCTGCTCCAGC	0.617000													54	53					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32692643	32692643	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:32692643G>A	ENST00000421745.2	+	27	5541	c.5407G>A	c.(5407-5409)Gat>Aat	p.D1803N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1803					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)					ATTGTTGACTGATGTATTGAT	0.408000													17	26					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97624562	97624562	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:97624562C>T	ENST00000371203.5	+	8	1443	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	ENTPD1_ENST00000453258.2_Silent_p.L431L|RP11-248J23.7_ENST00000491114.1_Silent_p.F39F|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000539125.1_Silent_p.L286L|ENTPD1_ENST00000543964.1_Silent_p.L316L|ENTPD1_ENST00000371207.3_Silent_p.L436L|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Silent_p.L424L|RP11-429G19.3_ENST00000433113.1_RNA	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	424					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CTCCCTCCTTCTGCAAGGCTA	0.488000													12	42					0	0	1	0	0
GORASP1	64689	broad.mit.edu	37	3	39139816	39139816	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:39139816C>T	ENST00000319283.3	-	9	2055	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	GORASP1_ENST00000479927.1_Missense_Mutation_p.E317K|GORASP1_ENST00000422110.2_Missense_Mutation_p.E257K	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	412					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGTTCCTCCTCAGCCTGAGCT	0.612000													21	75					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25477387	25477387	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr20:25477387C>G	ENST00000278886.6	-	10	1295	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	NINL_ENST00000422516.1_Missense_Mutation_p.E408Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	408					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCGGCCCTCTCCAGGTCCTGC	0.602000													33	26					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132247062	132247062	+	Silent	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:132247062C>G	ENST00000260818.6	+	54	6659	c.6411C>G	c.(6409-6411)ctC>ctG	p.L2137L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2137							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTCCATACCTCTTAAAATTAC	0.393000													25	68					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84132867	84132867	+	Missense_Mutation	SNP	G	G	A	rs147669670		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr16:84132867G>A	ENST00000343411.3	-	3	707	c.212C>T	c.(211-213)tCa>tTa	p.S71L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	71					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGAAATAAATGAATTTCTAGC	0.353000													15	63					0	0	1	0	0
ERP44	23071	broad.mit.edu	37	9	102769914	102769914	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr9:102769914C>G	ENST00000262455.6	-	9	1019	c.820G>C	c.(820-822)Gaa>Caa	p.E274Q		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	274	Interaction with ITPR1 (By similarity).				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TCTAAACTTTCTGTATCTTCT	0.338000													16	22					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16199525	16199525	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:16199525C>T	ENST00000375759.3	+	2	502	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	100					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CATAGCATCTCGTAGTAGAGA	0.527000													19	61					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118677944	118677944	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:118677944G>C	ENST00000376300.2	-	24	2008	c.1871C>G	c.(1870-1872)tCc>tGc	p.S624C	HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.S623C	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	624										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTTCACCTTGGACAGCAGCAT	0.493000													5	26					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28248115	28248115	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:28248115C>G	ENST00000344773.2	+	5	461	c.323C>G	c.(322-324)tCa>tGa	p.S108*	BRE_ENST00000361704.2_Nonsense_Mutation_p.S108*|BRE_ENST00000379624.1_Nonsense_Mutation_p.S108*|BRE_ENST00000379632.2_Nonsense_Mutation_p.S108*|BRE_ENST00000342045.2_Nonsense_Mutation_p.S108*|BRE_ENST00000603461.1_3'UTR	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	108	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TGGAATCCTTCAAATCCTGAA	0.408000													40	81					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52157322	52157322	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr5:52157322G>C	ENST00000282588.6	+	3	682	c.224G>C	c.(223-225)aGa>aCa	p.R75T		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	75					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CCCAAAAACAGAACTGGAGAT	0.348000													12	37					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131072029	131072029	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr9:131072029C>T	ENST00000372890.4	-	8	1129	c.796G>A	c.(796-798)Gac>Aac	p.D266N	TRUB2_ENST00000546104.1_Missense_Mutation_p.D210N|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	266					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						AGGGCACTGTCTAGCGTGAAG	0.582000													6	12					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44870204	44870204	+	Splice_Site	SNP	A	A	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:44870204A>T	ENST00000377967.4	+	5	425		c.e5-1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(10)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTTCCTTTACAGAATGCTGCC	0.299000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								16	5					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4707267	4707267	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr16:4707267C>T	ENST00000399577.5	+	5	557	c.464C>T	c.(463-465)tCg>tTg	p.S155L	MGRN1_ENST00000415496.1_Missense_Mutation_p.S155L|MGRN1_ENST00000586183.1_Missense_Mutation_p.S155L|MGRN1_ENST00000262370.7_Missense_Mutation_p.S155L|MGRN1_ENST00000588994.1_Missense_Mutation_p.S155L	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	155					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AAGAGCCCCTCGCTACAGTCC	0.617000													18	35					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27778620	27778620	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:27778620C>T	ENST00000261716.3	+	2	573	c.54C>T	c.(52-54)ctC>ctT	p.L18L	TAOK1_ENST00000536202.1_Silent_p.L18L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	18					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	p.L18L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTGCAGAGCTCTTCTTCAAAG	0.443000													8	37					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122618238	122618238	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:122618238G>T	ENST00000263461.6	+	3	528	c.282G>T	c.(280-282)aaG>aaT	p.K94N		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	94						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						TCAATGGGAAGATCATCGTCT	0.463000													11	45					4.68919e-08	4.95337e-08	1	1	0
SGSM2	9905	broad.mit.edu	37	17	2265520	2265520	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:2265520G>A	ENST00000268989.3	+	4	591	c.414G>A	c.(412-414)gaG>gaA	p.E138E	SGSM2_ENST00000574563.1_Silent_p.E138E|SGSM2_ENST00000426855.2_Silent_p.E138E	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	138	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGCTCATCGAGAAAGTTCTGG	0.632000													11	12					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100701013	100701013	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:100701013C>G	ENST00000370132.4	-	3	243	c.230G>C	c.(229-231)aGa>aCa	p.R77T	DBT_ENST00000370131.3_Missense_Mutation_p.R77T	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2		Lipoyl-binding.				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGTTACTTCTCTAATCCCTTC	0.279000													12	37					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66872829	66872829	+	Silent	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:66872829G>C	ENST00000269080.2	-	32	4232	c.4095C>G	c.(4093-4095)ctC>ctG	p.L1365L	ABCA8_ENST00000586539.1_Silent_p.L1405L|ABCA8_ENST00000430352.2_Silent_p.L1405L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1365	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCTGCAGCTTGAGCGCATCCA	0.498000													15	48					0	0	1	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1138988	1138988	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:1138988C>G	ENST00000328596.6	-	4	750	c.751G>C	c.(751-753)Gat>Cat	p.D251H	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	14					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390773	48390773	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:48390773G>A	ENST00000224600.4	-	1	218	c.105C>T	c.(103-105)ctC>ctT	p.L35L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	35	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTTATCCAAGAGGACCTTGG	0.582000													6	28					0	0	1	0	0
DNAJB12	54788	broad.mit.edu	37	10	74095690	74095690	+	Splice_Site	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr10:74095690C>G	ENST00000338820.3	-	8	1258		c.e8-1		DNAJB12_ENST00000394903.2_Splice_Site|DNAJB12_ENST00000461919.1_Splice_Site|DNAJB12_ENST00000444643.2_Splice_Site	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12						protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						AAGCCTTCCTCTGCAAAGCAA	0.592000													25	37					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094001	150094001	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:150094001C>T	ENST00000329630.5	+	3	539	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAAGAGCTTCAGCCAGAAGC	0.677000													4	20					0	0	1	0	0
PHF6	84295	broad.mit.edu	37	X	133559266	133559266	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:133559266G>A	ENST00000332070.3	+	10	1206	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	PHF6_ENST00000370803.3_Missense_Mutation_p.R335K|PHF6_ENST00000394292.1_Missense_Mutation_p.R336K|PHF6_ENST00000416404.2_Missense_Mutation_p.R301K	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AATGATGAGAGAGATGAAGAA	0.368000			"""F, N, Splice, Mis"""		ETP ALL								14	20					0	0	1	0	0
LOC728715	728715	broad.mit.edu	37	12	9715608	9715608	+	RNA	SNP	A	A	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr12:9715608A>G	ENST00000520314.1	+	0	2803																											GCTGGGCTCAATTTCACTGTA	0.433000													18	0					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1956492	1956492	+	Splice_Site	SNP	A	A	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:1956492A>G	ENST00000378585.4	+	2	263	c.180A>G	c.(178-180)ggA>ggG	p.G60G		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	60						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(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTGGCATCGGAGGTGAGGGGC	0.692000													10	15					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	79002130	79002130	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr1:79002130C>G	ENST00000370757.3	+	3	1075	c.838C>G	c.(838-840)Ctg>Gtg	p.L280V	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.L280V	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	280					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AAATCATTCTCTGGAAACCTG	0.358000													36	46					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	93511382	93511382	+	Silent	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr4:93511382C>T	ENST00000282020.4	+	2	447	c.189C>T	c.(187-189)atC>atT	p.I63I	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.I63I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	63					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTGAGAAAATCACATTTTCAG	0.388000													24	90					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884192	228884192	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr2:228884192C>T	ENST00000392056.3	-	7	1424	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D460N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	460						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGGCAGCATCACTGCCATCT	0.517000													32	19					0	0	1	0	0
PSMB3	5691	broad.mit.edu	37	17	36909447	36909447	+	Silent	SNP	G	G	A			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:36909447G>A	ENST00000225426.4	+	2	139	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	16					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|interspecies interaction between organisms|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 core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)	4						CCATGAAGGGGAAGAACTGTG	0.607000													8	31					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9459655	9459655	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr11:9459655G>C	ENST00000379719.3	+	22	2660	c.2518G>C	c.(2518-2520)Gga>Cga	p.G840R		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	840					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GTGTGTTCTCGGACTCTGTGC	0.318000													39	58					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													7	67					0	0	1	0	0
TRGC2	6967	broad.mit.edu	37	7	38279699	38279699	+	RNA	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr7:38279699C>T	ENST00000436911.2	-	0	494																											AAATAGACCACACTCTTGAGG	0.458000													12	46					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49050894	49050894	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr3:49050894C>T	ENST00000395474.3	+	2	2297	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	WDR6_ENST00000448293.1_Missense_Mutation_p.R592W|WDR6_ENST00000608424.1_Missense_Mutation_p.R643W|WDR6_ENST00000415265.2_Missense_Mutation_p.R91W	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	643					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTGGAACCCTCGGTCACACGA	0.562000													9	38					0	0	1	0	0
EQTN	54586	broad.mit.edu	37	9	27292453	27292454	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chr9:27292453_27292454insTT	ENST00000380032.3	-	4	404_405	c.321_322insAA	c.(319-324)aaatccfs	p.S108fs	EQTN_ENST00000380031.1_Frame_Shift_Ins_p.S108fs|EQTN_ENST00000537675.1_Intron|EQTN_ENST00000484994.1_5'UTR	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		TCAATGGTGGATTTTTCATATG	0.292													30	48	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-E7-A7DU-01A-11D-A32B-08	TCGA-E7-A7DU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe74157-d282-4d3c-9a01-4a894e8a0564	0db0f83a-bf9e-4b68-97d7-ec2c3f174156	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			3	5	---	---	---	---					
