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
PTK2	5747	broad.mit.edu	37	8	141810664	141810664	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:141810664C>A	ENST00000522684.1	-	12	1216	c.987G>T	c.(985-987)gtG>gtT	p.V329V	PTK2_ENST00000517887.1_Silent_p.V373V|PTK2_ENST00000519419.1_Silent_p.V373V|PTK2_ENST00000535192.1_Silent_p.V329V|PTK2_ENST00000340930.3_Silent_p.V329V|PTK2_ENST00000395218.2_Silent_p.V329V|PTK2_ENST00000521059.1_Silent_p.V329V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	329	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATGGTGCCGTCACTGTCAGAG	0.468000													6	66					3.59834e-05	3.71149e-05	0.217242	1	0
MUC5B	727897	broad.mit.edu	37	11	1272547	1272547	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:1272547C>T	ENST00000447027.1	+	31	14504	c.14446C>T	c.(14446-14448)Ctg>Ttg	p.L4816L	MUC5B_ENST00000529681.1_Silent_p.L4813L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4813	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCACTCTGGGGACGAC	0.627000													20	130					0	0	0.624587	0	0
PMP22	5376	broad.mit.edu	37	17	15162452	15162452	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:15162452G>A	ENST00000395938.2	-	3	331	c.137C>T	c.(136-138)tCc>tTc	p.S46F	PMP22_ENST00000494511.1_Intron|PMP22_ENST00000426385.3_Missense_Mutation_p.S46F|PMP22_ENST00000395936.1_Missense_Mutation_p.S46F|PMP22_ENST00000312280.3_Missense_Mutation_p.S46F	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	46					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		ATTTCCTGAGGAAGAGGTGCT	0.507000													8	75					0	0	0.411799	0	0
KPNB1	3837	broad.mit.edu	37	17	45747074	45747074	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:45747074G>C	ENST00000290158.4	+	11	1662	c.1255G>C	c.(1255-1257)Gac>Cac	p.D419H	KPNB1_ENST00000540627.1_Missense_Mutation_p.D274H|KPNB1_ENST00000537679.1_Missense_Mutation_p.D203H|KPNB1_ENST00000535458.2_Missense_Mutation_p.D274H	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	419	Ran-GTP binding.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ATTAATGAAAGACCCCAGTGT	0.408000													15	114					0	0	0.608945	0	0
ANKRD17	26057	broad.mit.edu	37	4	74019627	74019627	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:74019627C>G	ENST00000358602.4	-	6	1320	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q	ANKRD17_ENST00000509867.2_Missense_Mutation_p.E289Q|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E402Q	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	402					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGGCACTCTCTTTAAATTCA	0.348000													6	57					0	0	0.307466	0	0
RPRD1B	58490	broad.mit.edu	37	20	36662405	36662405	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:36662405C>G	ENST00000373433.4	+	1	458	c.56C>G	c.(55-57)tCt>tGt	p.S19C		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	19	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGAGCAACTCTCAGCAGAGC	0.657000													25	160					0	0	0.667858	0	0
BANK1	55024	broad.mit.edu	37	4	102981531	102981531	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:102981531G>C	ENST00000504592.1	+	16	2506	c.2088G>C	c.(2086-2088)ctG>ctC	p.L696L	BANK1_ENST00000508653.1_Silent_p.L578L|BANK1_ENST00000428908.1_Silent_p.L578L|BANK1_ENST00000444316.2_Silent_p.L681L|BANK1_ENST00000322953.4_Silent_p.L711L			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	711					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAAGTGGCCTGGAAATGATTC	0.413000													6	39					0	0	0.278610	0	0
MROH7-TTC4	100527960	broad.mit.edu	37	1	55119580	55119580	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:55119580G>A	ENST00000414150.2	+	3	1259	c.981G>A	c.(979-981)atG>atA	p.M327I	MROH7_ENST00000395690.2_Missense_Mutation_p.M327I|MROH7_ENST00000421030.2_Missense_Mutation_p.M327I|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.M327I|MROH7_ENST00000454855.2_Intron																							CCTCATGCATGACTCTAATCC	0.562000													10	167					0	0	0.592651	0	0
PDCD11	22984	broad.mit.edu	37	10	105179396	105179396	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:105179396G>A	ENST00000369797.3	+	16	2302	c.2208G>A	c.(2206-2208)gtG>gtA	p.V736V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	736	S1 motif 8.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGGTTTTGTGAAGAGCATCA	0.498000													19	73					0	0	0.624587	0	0
HAPLN2	60484	broad.mit.edu	37	1	156594397	156594397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156594397G>A	ENST00000255039.1	+	6	968	c.561G>A	c.(559-561)tgG>tgA	p.W187*	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	187	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCCAGCTTGGACCGAGGGTC	0.716000													6	77					0	0	0.335167	0	0
PRSS33	260429	broad.mit.edu	37	16	2835105	2835105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2835105G>A	ENST00000576886.1	-	4	603	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	PRSS33_ENST00000570702.1_Silent_p.D194D|PRSS33_ENST00000293851.5_Silent_p.D194D			Q8NF86	PRS33_HUMAN	protease, serine, 33	172	Peptidase S1.				proteolysis		serine-type endopeptidase activity			prostate(1)	1						GGTAGAGGCCGTCGCAGGTGC	0.687000													3	11					0	0	0.150653	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035959	36035959	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:36035959G>A	ENST00000282507.3	-	7	1514	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	UGT3A2_ENST00000513300.1_Silent_p.L437L|UGT3A2_ENST00000545528.1_Silent_p.L169L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	471						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATAGGGCTTGAGGTGCGTCG	0.617000													13	54					0	0	0.520397	0	0
RNF8	9025	broad.mit.edu	37	6	37328321	37328321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:37328321G>A	ENST00000373479.4	+	2	404	c.211G>A	c.(211-213)Gag>Aag	p.E71K	RNF8_ENST00000469731.1_Missense_Mutation_p.E71K|RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000394443.4_Missense_Mutation_p.E71K	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	71	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCAGAATCCTGAGGGCCAATG	0.383000													9	62					0	0	0.335167	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239963	5239963	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:5239963C>T	ENST00000274181.7	+	16	2586	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	816	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCACTACTTTCGACTACAGAC	0.517000													19	131					0	0	0.639603	0	0
KDM2A	22992	broad.mit.edu	37	11	67021043	67021043	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67021043C>G	ENST00000529006.2	+	19	3498	c.3052C>G	c.(3052-3054)Caa>Gaa	p.Q1018E	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.Q476E|KDM2A_ENST00000530342.1_Missense_Mutation_p.Q579E|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1018					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CAAGGACCCTCAAATTCGGGA	0.552000													17	81					0	0	0.539581	0	0
NR2E1	7101	broad.mit.edu	37	6	108496093	108496093	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:108496093G>A	ENST00000368986.4	+	3	933	c.225G>A	c.(223-225)ctG>ctA	p.L75L	NR2E1_ENST00000368983.3_Silent_p.L112L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	75					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CGTGTCGGCTGAAGAAGTGTT	0.483000													18	86					0	0	0.654019	0	0
CD37	951	broad.mit.edu	37	19	49840236	49840236	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:49840236C>T	ENST00000535669.2	+	3	327	c.213C>T	c.(211-213)atC>atT	p.I71I	CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_Silent_p.I3I|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_Silent_p.I3I|CD37_ENST00000323906.4_Silent_p.I71I			P11049	CD37_HUMAN	CD37 molecule	71						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCATGGGCATCGCCCTCCTGG	0.617000													16	63					0	0	0.520397	0	0
PTX4	390667	broad.mit.edu	37	16	1536456	1536456	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:1536456G>A	ENST00000440447.2	-	3	547	c.476C>T	c.(475-477)cCg>cTg	p.P159L	PTX4_ENST00000293922.1_Silent_p.S302S|PTX4_ENST00000447419.2_Silent_p.S307S			Q96A99	PTX4_HUMAN	pentraxin 4, long	245						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGGCGGCCGGAGGCCGTGC	0.647000													17	62					0	0	0.575678	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3593966	3593966	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:3593966G>A	ENST00000550383.1	-	4	557	c.369C>T	c.(367-369)ggC>ggT	p.G123G	P2RX5_ENST00000345901.3_Silent_p.G99G|P2RX5_ENST00000552050.1_Silent_p.G63G|P2RX5_ENST00000547178.1_Silent_p.G123G|P2RX5_ENST00000225328.5_Silent_p.G123G|P2RX5_ENST00000552276.1_Silent_p.G123G|P2RX5_ENST00000435558.1_Silent_p.G123G|P2RX5_ENST00000551178.1_Silent_p.G99G																							CATCAGGAATGCCTTCATTCT	0.632000													12	74					0	0	0.479597	0	0
FAM83C	128876	broad.mit.edu	37	20	33875386	33875386	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:33875386G>C	ENST00000374408.3	-	4	1292	c.1196C>G	c.(1195-1197)tCa>tGa	p.S399*		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	399										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTTAGGGTCTGACAGTTGGCG	0.627000													4	50					0	0	0.184627	0	0
MFGE8	4240	broad.mit.edu	37	15	89449884	89449884	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:89449884G>A	ENST00000539437.1	-	5	625	c.489C>T	c.(487-489)ttC>ttT	p.F163F	MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000566497.1_Silent_p.F171F|MFGE8_ENST00000268150.8_Silent_p.F171F|MFGE8_ENST00000542878.1_Silent_p.F127F|MFGE8_ENST00000268151.7_Silent_p.F171F			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	171	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CATCATGGATGAAATCGAATT	0.512000													23	94					0	0	0.693898	0	0
AMER3	205147	broad.mit.edu	37	2	131520311	131520311	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:131520311C>G	ENST00000423981.1	+	2	776	c.666C>G	c.(664-666)ctC>ctG	p.L222L	AMER3_ENST00000321420.4_Silent_p.L222L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		ACAGCGAGCTCCTGGCCGATG	0.677000													15	100					0	0	0.500413	0	0
ZNF791	163049	broad.mit.edu	37	19	12739580	12739580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12739580G>T	ENST00000343325.4	+	4	1399	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Nonsense_Mutation_p.E304*|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.E381*|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAAACCCTATGAGTGTAAGGA	0.393000													7	75					0.00448238	0.004573	0.307466	1	0
N6AMT1	29104	broad.mit.edu	37	21	30257552	30257552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:30257552G>A	ENST00000303775.5	-	1	141	c.116C>T	c.(115-117)gCg>gTg	p.A39V	N6AMT1_ENST00000351429.3_Missense_Mutation_p.A39V	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	39					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TTCGGCAGCCGCTGCCTCCAG	0.667000													16	266					0	0	0.859065	0	0
MAGI3	260425	broad.mit.edu	37	1	114133225	114133225	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:114133225C>G	ENST00000369615.1	+	5	945	c.883C>G	c.(883-885)Ctg>Gtg	p.L295V	MAGI3_ENST00000369611.4_Missense_Mutation_p.L295V|MAGI3_ENST00000307546.9_Missense_Mutation_p.L295V|MAGI3_ENST00000369617.4_Missense_Mutation_p.L295V	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	295	WW 1.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGGAACCACTGCCCAAAAA	0.408000													4	40					0	0	0.150653	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579554	49579554	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:49579554C>T	ENST00000301071.7	-	4	939	c.595G>A	c.(595-597)Gat>Aat	p.D199N	TUBA1A_ENST00000295766.5_Missense_Mutation_p.D199N|TUBA1A_ENST00000546918.1_3'UTR|TUBA1A_ENST00000550767.1_Missense_Mutation_p.D164N	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	199					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						AAGGCACAATCAGAGTGCTCC	0.498000													12	103					0	0	0.435327	0	0
RIC8A	60626	broad.mit.edu	37	11	209946	209946	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:209946C>T	ENST00000526104.1	+	3	2016	c.672C>T	c.(670-672)atC>atT	p.I224I	RIC8A_ENST00000527696.1_Silent_p.I218I|RIC8A_ENST00000325207.5_Silent_p.I224I			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	224						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCATGGAGATCCTCAAAGTGC	0.577000													11	72					0	0	0.387290	0	0
SCAF4	57466	broad.mit.edu	37	21	33057990	33057990	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:33057990G>C	ENST00000286835.7	-	17	2482	c.2100C>G	c.(2098-2100)ttC>ttG	p.F700L	SCAF4_ENST00000434667.3_Missense_Mutation_p.F685L|SCAF4_ENST00000399804.1_Missense_Mutation_p.F700L	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	700						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAGGAGGCGTGAAAGCAGGCG	0.537000													13	93					0	0	0.500413	0	0
OTUD7B	56957	broad.mit.edu	37	1	149921589	149921589	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:149921589G>C	ENST00000369135.4	-	9	1360	c.1066C>G	c.(1066-1068)Cag>Gag	p.Q356E		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B		Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AAGTGGGCCTGATCATAGGCG	0.512000													7	91					0	0	0.307466	0	0
NTRK1	4914	broad.mit.edu	37	1	156830838	156830838	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156830838G>A	ENST00000368196.3	+	1	232	c.112G>A	c.(112-114)Gat>Aat	p.D38N	NTRK1_ENST00000524377.1_Missense_Mutation_p.D38N|NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000358660.3_Missense_Mutation_p.D38N	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	38					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACCCTGCCCCGATGCCTGCTG	0.726000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			7	22					0	0	0.307466	0	0
FBXO30	84085	broad.mit.edu	37	6	146127160	146127160	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:146127160C>G	ENST00000237281.4	-	2	548	c.382G>C	c.(382-384)Gac>Cac	p.D128H		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	128							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATCCTTTGGTCTTGAAGAGCC	0.408000													8	33					0	0	0.307466	0	0
XPOT	11260	broad.mit.edu	37	12	64833030	64833030	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:64833030G>A	ENST00000332707.5	+	23	3269	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	914	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TCAGGGCCCAGAATGTGTTCA	0.363000													7	59					0	0	0.361761	0	0
TCF20	6942	broad.mit.edu	37	22	42606365	42606365	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:42606365G>A	ENST00000359486.3	-	1	5083	c.4947C>T	c.(4945-4947)atC>atT	p.I1649I	TCF20_ENST00000335626.4_Silent_p.I1649I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGCATTGATGATTGTACAAA	0.478000													34	146					0	0	0.853193	0	0
CALCR	799	broad.mit.edu	37	7	93055834	93055834	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:93055834C>T	ENST00000359558.2	-	16	1660	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	CALCR_ENST00000426151.1_Missense_Mutation_p.R420H|CALCR_ENST00000421592.1_Missense_Mutation_p.R436H|CALCR_ENST00000394441.1_Missense_Mutation_p.R420H|CALCR_ENST00000360249.4_Missense_Mutation_p.R436H	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	436					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GTTGGAGGGGCGCCTCCCCCA	0.562000													10	79					0	0	0.387290	0	0
CELSR1	9620	broad.mit.edu	37	22	46930976	46930976	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:46930976C>T	ENST00000262738.3	-	1	2091	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E698K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	698	Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCGCATCCTCATTCAGACGA	0.637000													8	45					0	0	0.307466	0	0
PLEC	5339	broad.mit.edu	37	8	145007044	145007044	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145007044C>G	ENST00000322810.4	-	14	2234	c.2065G>C	c.(2065-2067)Gag>Cag	p.E689Q	PLEC_ENST00000354589.3_Missense_Mutation_p.E552Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E552Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E520Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E579Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E530Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E575Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E556Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E538Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	689	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTGCGCCTCCACGCTGGGC	0.677000													5	77					0	0	0.248553	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47109291	47109291	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:47109291G>A	ENST00000290341.3	+	5	691	c.357G>A	c.(355-357)acG>acA	p.T119T	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Silent_p.T119T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	119	RRM 2.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGAGTGAGACGGCAGTGGTGA	0.577000											OREG0024529	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	348					0	0	0.870114	0	0
ZNF808	388558	broad.mit.edu	37	19	53056414	53056414	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53056414G>C	ENST00000359798.4	+	5	425	c.245G>C	c.(244-246)aGa>aCa	p.R82T		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	82	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAAGGCAATAGAGAAGTGATC	0.363000													23	163					0	0	0.667858	0	0
FITM1	161247	broad.mit.edu	37	14	24601689	24601689	+	Missense_Mutation	SNP	G	G	A	rs147303563		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:24601689G>A	ENST00000267426.5	+	2	825	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	179					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CACCAGTGGCGAGGCTACACC	0.652000													14	94					0	0	0.520397	0	0
GALP	85569	broad.mit.edu	37	19	56688513	56688513	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56688513C>T	ENST00000357330.2	+	2	118	c.36C>T	c.(34-36)ctC>ctT	p.L12L	GALP_ENST00000590002.1_Silent_p.L12L|GALP_ENST00000440823.1_Silent_p.L12L	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	12					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TCCTCCTCCTCGTCCTCTTGC	0.622000													5	49					0	0	0.217242	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552649	102552649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:102552649G>A	ENST00000334701.7	-	3	714	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.Q23*|HSP90AA1_ENST00000441629.2_5'UTR	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	23					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	ATTTCTGCCTGAAAGGCGAAC	0.468000													10	91					0	0	0.457914	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635052	122635052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:122635052C>T	ENST00000249284.2	-	1	702	c.637G>A	c.(637-639)Ggt>Agt	p.G213S		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	213					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGCAGTGACCAGTGCTATGA	0.463000													7	44					0	0	0.335167	0	0
NARS	4677	broad.mit.edu	37	18	55273932	55273932	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:55273932C>G	ENST00000256854.5	-	10	1508	c.1053G>C	c.(1051-1053)ctG>ctC	p.L351L	NARS_ENST00000423481.2_Silent_p.L102L	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	351					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CCAACCGGTTCAGGAGGTCGT	0.493000													21	130					0	0	0.681144	0	0
RNF139	11236	broad.mit.edu	37	8	125487452	125487452	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:125487452C>G	ENST00000303545.3	+	1	474	c.102C>G	c.(100-102)atC>atG	p.I34M		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	34					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTACATCATCGACGCCATCT	0.637000													20	169					0	0	0.681144	0	0
DDX49	54555	broad.mit.edu	37	19	19033503	19033503	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:19033503C>T	ENST00000438170.2	+	7	817	c.405C>T	c.(403-405)ttC>ttT	p.F135F	DDX49_ENST00000247003.4_Silent_p.F242F|DDX49_ENST00000599156.1_Intron|AC002985.3_ENST00000596918.1_Intron			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	242	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			TCCAGCGCTTCCAGGATGAGC	0.627000													19	143					0	0	0.624587	0	0
RNF115	27246	broad.mit.edu	37	1	145682086	145682086	+	Silent	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145682086T>C	ENST00000369291.5	+	5	696	c.492T>C	c.(490-492)ccT>ccC	p.P164P		NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN	ring finger protein 115						protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CTCCACACCCTTTTTCCTGGT	0.363000													3	130					0	0	0.184627	0	0
NID1	4811	broad.mit.edu	37	1	236212147	236212147	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:236212147C>T	ENST00000264187.6	-	2	450	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	NID1_ENST00000366595.3_Missense_Mutation_p.R123Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	123	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TAAGTCTTCTCGATAATAAAC	0.567000													26	74					0	0	0.681144	0	0
OLFM2	93145	broad.mit.edu	37	19	9967498	9967498	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9967498G>A	ENST00000264833.4	-	5	857	c.672C>T	c.(670-672)ccC>ccT	p.P224P	OLFM2_ENST00000590841.1_Silent_p.P146P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	224	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TATCCGCACTGGGGGCCATCG	0.662000													10	53					0	0	0.457914	0	0
ABCA13	154664	broad.mit.edu	37	7	48318381	48318381	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:48318381G>C	ENST00000435803.1	+	18	7614	c.7590G>C	c.(7588-7590)aaG>aaC	p.K2530N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2530					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCTGGTCAAGAAAGTTTCGG	0.413000													41	113					0	0	0.870114	0	0
XDH	7498	broad.mit.edu	37	2	31598300	31598300	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:31598300G>A	ENST00000379416.3	-	15	1596	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	516				FFF -> LLL (in Ref. 3; AAA75287).	purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGAACTTGAAGAAGAAGCTGA	0.597000													12	108					0	0	0.457914	0	0
CDKN2AIPNL	91368	broad.mit.edu	37	5	133747454	133747454	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:133747454G>C	ENST00000458198.2	-	1	135	c.92C>G	c.(91-93)tCa>tGa	p.S31*	CDKN2AIPNL_ENST00000395009.3_Nonsense_Mutation_p.S31*	NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	31										central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCGCTCTCTGAGTAGGAGCG	0.697000											OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	33					0	0	0.278610	0	0
APC2	10297	broad.mit.edu	37	19	1462069	1462069	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1462069G>T	ENST00000535453.1	+	13	3459	c.1746G>T	c.(1744-1746)gtG>gtT	p.V582V	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.V308V|APC2_ENST00000233607.2_Silent_p.V582V|CTB-25B13.12_ENST00000588225.1_RNA			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	582					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCCTGGTGAGCACCCTGA	0.637000													18	115					2.39556e-15	2.56989e-15	0.639603	1	0
ATP13A4	84239	broad.mit.edu	37	3	193130105	193130105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:193130105G>A	ENST00000342695.4	-	27	3392	c.3070C>T	c.(3070-3072)Cca>Tca	p.P1024S	ATP13A4_ENST00000392443.3_Missense_Mutation_p.P1005S|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Missense_Mutation_p.P40S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1024					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATTTTTTCTGGAGCAGTTGGA	0.408000													18	139					0	0	0.654019	0	0
DHRS1	115817	broad.mit.edu	37	14	24768168	24768168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:24768168G>A	ENST00000288111.7	-	2	421	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	DHRS1_ENST00000396813.1_Nonsense_Mutation_p.Q49*	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	49						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CTCACCTCCTGAGCAACAACG	0.547000													19	94					0	0	0.592651	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533394	94533394	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:94533394C>G	ENST00000433060.2	+	3	1179	c.1038C>G	c.(1036-1038)gtC>gtG	p.V346V	AMOTL1_ENST00000317829.8_Silent_p.V296V|AMOTL1_ENST00000317837.9_Silent_p.V346V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	346						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACGAGATGGTCAAGCCCTACC	0.567000													31	201					0	0	0.788014	0	0
FANCG	2189	broad.mit.edu	37	9	35076535	35076535	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:35076535C>G	ENST00000378643.3	-	8	1461	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	FANCG_ENST00000476212.1_5'UTR	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	324					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AATTCTACCTCAATGAGAAAC	0.463000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					10	70					0	0	0.411799	0	0
USP42	84132	broad.mit.edu	37	7	6189333	6189333	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6189333C>T	ENST00000306177.5	+	13	1664	c.1506C>T	c.(1504-1506)gtC>gtT	p.V502V		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	502					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGCTTCTGTCCAAAACTGGT	0.453000													10	113					0	0	0.361761	0	0
CEP170B	283638	broad.mit.edu	37	14	105354098	105354098	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:105354098G>A	ENST00000453495.1	+	12	3753	c.3525G>A	c.(3523-3525)cgG>cgA	p.R1175R	CEP170B_ENST00000556508.1_Silent_p.R1104R|CEP170B_ENST00000414716.3_Silent_p.R1174R|CEP170B_ENST00000418279.1_Silent_p.R1104R					centrosomal protein 170B																		CCATGCCCCGGAAGCGGGCCG	0.692000													5	12					0	0	0.217242	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48218657	48218657	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:48218657G>C	ENST00000316878.6	-	6	1703	c.1701C>G	c.(1699-1701)ctC>ctG	p.L567L	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	567	PDZ.				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						TGGTGTTCCGGAGCACAGACG	0.627000													3	16					0	0	0.150653	0	0
ASXL1	171023	broad.mit.edu	37	20	31021257	31021257	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:31021257G>A	ENST00000375687.4	+	12	1680	c.1256G>A	c.(1255-1257)aGa>aAa	p.R419K	ASXL1_ENST00000306058.5_Missense_Mutation_p.R414K	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	419					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTCCGAACCAGAGCCAGAAGG	0.517000			"""F, N, Mis"""		"""MDS, CMML"""								10	110					0	0	0.387290	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876717	39876717	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:39876717G>A	ENST00000530275.1	+	1	567	c.372G>A	c.(370-372)ccG>ccA	p.P124P	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	124										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAACCTGGCCGAGGGCCACAA	0.522000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	17					0	0	0.115264	0	0
UBXN6	80700	broad.mit.edu	37	19	4446589	4446589	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4446589G>C	ENST00000301281.6	-	8	952	c.828C>G	c.(826-828)gtC>gtG	p.V276V	UBXN6_ENST00000394765.3_Silent_p.V223V	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	276						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						AGGGCTGGAAGACGCGGCGCT	0.672000													11	111					0	0	0.457914	0	0
IREB2	3658	broad.mit.edu	37	15	78790409	78790409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:78790409C>T	ENST00000258886.8	+	22	2965	c.2816C>T	c.(2815-2817)tCg>tTg	p.S939L		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	939							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTGATTGCTTCGTTTGAAGAT	0.358000													15	87					0	0	0.520397	0	0
TPST2	8459	broad.mit.edu	37	22	26932283	26932283	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:26932283C>T	ENST00000338754.4	-	4	1282	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	TPST2_ENST00000403880.1_Missense_Mutation_p.D338N|TPST2_ENST00000398110.2_Missense_Mutation_p.D338N	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	338					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						ACGAAGGGGTCAGGGTTGCCA	0.572000													7	73					0	0	0.335167	0	0
TTN	7273	broad.mit.edu	37	2	179594559	179594559	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:179594559G>C	ENST00000589042.1	-	63	18645	c.18421C>G	c.(18421-18423)Cta>Gta	p.L6141V	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L4897V|TTN_ENST00000591111.1_Missense_Mutation_p.L5824V|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5824	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCCGTCTAGATACCAAGAC	0.428000													4	27					0	0	0.184627	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925604	67925604	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67925604C>T	ENST00000304363.4	-	11	2562	c.2209G>A	c.(2209-2211)Gga>Aga	p.G737R		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAGTTCATTCCATCATTCTCT	0.373000													17	190					0	0	0.539581	0	0
RTDR1	27156	broad.mit.edu	37	22	23482428	23482428	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:23482428G>C	ENST00000216036.4	-	2	376	c.180C>G	c.(178-180)atC>atG	p.I60M	RTDR1_ENST00000406876.1_Missense_Mutation_p.I60M	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	60							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TGGCCTTGTAGATACACTCGG	0.557000													6	53					0	0	0.278610	0	0
SF3A1	10291	broad.mit.edu	37	22	30730592	30730592	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:30730592C>T	ENST00000215793.8	-	16	2527	c.2373G>A	c.(2371-2373)agG>agA	p.R791R	SF3A1_ENST00000439242.1_Silent_p.R726R	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa		Ubiquitin-like.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCTACTTCTTCCTCCCGCCTC	0.562000													20	158					0	0	0.654019	0	0
XPO7	23039	broad.mit.edu	37	8	21848409	21848409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:21848409C>T	ENST00000434536.1	+	18	2149	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	XPO7_ENST00000433566.4_Missense_Mutation_p.R675C|XPO7_ENST00000252512.9_Missense_Mutation_p.R674C			Q9UIA9	XPO7_HUMAN	exportin 7	674					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCACTTGGGCGTCTCCTCAT	0.418000													23	173					0	0	0.729181	0	0
TG	7038	broad.mit.edu	37	8	133879287	133879287	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:133879287C>A	ENST00000220616.4	+	1	82	c.42C>A	c.(40-42)atC>atA	p.I14I	TG_ENST00000377869.1_Silent_p.I14I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	14					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGCCTCCATCTGCTGGGTGT	0.627000													3	17					0.115264	0.116328	0.115264	1	0
RNF115	27246	broad.mit.edu	37	1	145687020	145687020	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145687020G>A	ENST00000369291.5	+	8	916	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K		NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN	ring finger protein 115						protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						TTACACAGTTGAAGAGGAAGT	0.413000													13	130					0	0	0.520397	0	0
PMS1	5378	broad.mit.edu	37	2	190728745	190728745	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:190728745G>T	ENST00000441310.2	+	10	2366	c.2133G>T	c.(2131-2133)aaG>aaT	p.K711N	PMS1_ENST00000409823.3_Missense_Mutation_p.K672N|PMS1_ENST00000418224.3_Missense_Mutation_p.K535N|PMS1_ENST00000432292.3_Missense_Mutation_p.K535N|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	711					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TAAATTTTAAGAAACAAAACA	0.333000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					5	35					0.014758	0.0149749	0.184627	1	0
SLC6A18	348932	broad.mit.edu	37	5	1235675	1235675	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:1235675C>T	ENST00000324642.3	+	4	642	c.519C>T	c.(517-519)atC>atT	p.I173I	SLC6A18_ENST00000296821.4_Silent_p.I173I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	173					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGCCGACATCAATGACAGTG	0.582000													22	168					0	0	0.624587	0	0
TOP3B	8940	broad.mit.edu	37	22	22330076	22330076	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:22330076C>T	ENST00000398793.2	-	2	440	c.6G>A	c.(4-6)aaG>aaA	p.K2K	TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Silent_p.K2K	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	2					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TGAGCACAGTCTTCATTTTGT	0.493000													5	45					0	0	0.184627	0	0
URI1	8725	broad.mit.edu	37	19	30505917	30505917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:30505917G>A	ENST00000392271.1	+	11	1846	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	URI1_ENST00000542441.2_Missense_Mutation_p.E517K|URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Missense_Mutation_p.E477K	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	517					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										GGAAGCATCTGAAGAAACTGG	0.433000													9	60					0	0	0.387290	0	0
NT5C1B	93034	broad.mit.edu	37	2	18745124	18745124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:18745124C>T	ENST00000304081.4	-	9	1691	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	NT5C1B_ENST00000359846.2_Missense_Mutation_p.E591K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E591K|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E591K	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGTGCCCCTTCAATGTGGAAC	0.468000													7	44					0	0	0.248553	0	0
GPR88	54112	broad.mit.edu	37	1	101004982	101004982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101004982C>T	ENST00000315033.4	+	2	899	c.460C>T	c.(460-462)Cag>Tag	p.Q154*		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	154						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GGCGCTGTACCAGAGGCGCCA	0.756000													3	21					0	0	0.115264	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21392055	21392055	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:21392055T>A	ENST00000256958.2	+	15	2104	c.2008T>A	c.(2008-2010)Tta>Ata	p.L670I		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	670					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGAAGCAAACTTAGAATCCTT	0.318000													3	13					0	0	0.150653	0	0
APOL1	8542	broad.mit.edu	37	22	36661542	36661542	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36661542G>C	ENST00000319136.4	+	7	975	c.708G>C	c.(706-708)ttG>ttC	p.L236F	APOL1_ENST00000397278.3_Missense_Mutation_p.L220F|APOL1_ENST00000422706.1_Missense_Mutation_p.L220F|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.L202F|APOL1_ENST00000397279.4_Missense_Mutation_p.L220F|APOL1_ENST00000347595.7_Missense_Mutation_p.L99F	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	220					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CAGCCGCTTTGACCGGGATTA	0.557000													18	126					0	0	0.575678	0	0
TOPORS	10210	broad.mit.edu	37	9	32541498	32541498	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:32541498C>T	ENST00000360538.2	-	3	3141	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K	TOPORS_ENST00000379858.1_Missense_Mutation_p.E944K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1009					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GGCTGGTTCTCCAAATCAGAA	0.428000													6	100					0	0	0.217242	0	0
KAZN	23254	broad.mit.edu	37	1	14925613	14925613	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:14925613G>C	ENST00000376030.2	+	1	414	c.120G>C	c.(118-120)ctG>ctC	p.L40L	KAZN_ENST00000503743.1_Silent_p.L40L|KAZN_ENST00000422387.2_Silent_p.L40L	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	40					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGGCGGAACTGAgcggcggcg	0.751000													6	43					0	0	0.217242	0	0
JAK1	3716	broad.mit.edu	37	1	65303766	65303766	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:65303766G>A	ENST00000342505.4	-	22	3237	c.2989C>T	c.(2989-2991)Cgg>Tgg	p.R997W		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	997	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ACGTATTGCCGAGAACCCAAA	0.398000			Mis		ALL								6	45					0	0	0.248553	0	0
ZNF606	80095	broad.mit.edu	37	19	58490857	58490857	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:58490857C>G	ENST00000341164.4	-	7	1811	c.1191G>C	c.(1189-1191)gaG>gaC	p.E397D	ZNF606_ENST00000536132.1_Missense_Mutation_p.E307D	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CATAGGGTTTCTCTGCAGTGT	0.378000													5	55					0	0	0.248553	0	0
AKAP9	10142	broad.mit.edu	37	7	91722446	91722446	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:91722446C>G	ENST00000359028.2	+	39	9631	c.9406C>G	c.(9406-9408)Caa>Gaa	p.Q3136E	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q3132E|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q3082E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3136					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGCAGTCTCAAATGCTGGA	0.378000			T	BRAF	papillary thyroid								6	36					0	0	0.278610	0	0
PLEC	5339	broad.mit.edu	37	8	145017953	145017953	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145017953C>T	ENST00000354589.3	-	1	173	c.106G>A	c.(106-108)Gag>Aag	p.E36K	PLEC_ENST00000322810.4_Intron|PLEC_ENST00000398774.2_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron	NM_201382.2	NP_958784.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTACCTTGCTCGTCCTGCGCC	0.706000													10	66					0	0	0.335167	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925754	67925754	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67925754C>A	ENST00000304363.4	-	11	2412	c.2059G>T	c.(2059-2061)Gac>Tac	p.D687Y		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTAAAGCTGTCTTTTGTTTTG	0.443000													16	33					1.02788e-11	1.09463e-11	0.520397	1	0
ZSCAN21	7589	broad.mit.edu	37	7	99654714	99654714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:99654714G>A	ENST00000292450.4	+	2	249	c.85G>A	c.(85-87)Gag>Aag	p.E29K	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E29K|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E29K	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	29					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGTAAAAGTCGAGGAGAAAGA	0.557000													22	111					0	0	0.624587	0	0
NSUN2	54888	broad.mit.edu	37	5	6605470	6605470	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:6605470C>T	ENST00000264670.6	-	15	1964	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	NSUN2_ENST00000506139.1_Silent_p.R516R|NSUN2_ENST00000539938.1_Silent_p.R315R	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	551						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTTCTGTAGTCCGAGTTAACA	0.413000													13	126					0	0	0.411799	0	0
TOMM20	9804	broad.mit.edu	37	1	235292007	235292007	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:235292007G>A	ENST00000366607.4	-	1	244	c.24C>T	c.(22-24)atC>atT	p.I8I		NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	8					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			CACCGGCGGCGATGGCGCTGT	0.607000													72	168					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9002669	9002669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9002669C>T	ENST00000397910.4	-	51	40350	c.40147G>A	c.(40147-40149)Gag>Aag	p.E13383K	MUC16_ENST00000380951.5_Missense_Mutation_p.E24K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13385	SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATCCTTCTCAGGCCTAGGG	0.547000													5	37					0	0	0.217242	0	0
FAM132A	388581	broad.mit.edu	37	1	1179861	1179861	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:1179861C>T	ENST00000330388.2	-	2	225	c.194G>A	c.(193-195)gGa>gAa	p.G65E		NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	65						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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)		GAACTCAGGTCCTGAGGCCTG	0.672000													16	81					0	0	0.575678	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555295	44555295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:44555295C>A	ENST00000330682.2	-	1	1154	c.919G>T	c.(919-921)Gag>Tag	p.E307*	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	307					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						GCAGCTTCCTCCTGGAGCGCT	0.637000													29	1540					6.94344e-10	7.35254e-10	0.539581	1	0
PARP1	142	broad.mit.edu	37	1	226555291	226555291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:226555291C>T	ENST00000366794.5	-	17	2439	c.2296G>A	c.(2296-2298)Gac>Aac	p.D766N	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	766	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGCAGGTTGTCAAGCATTTCC	0.512000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					25	73					0	0	0.769981	0	0
RSC1A1	6248	broad.mit.edu	37	1	15988048	15988048	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15988048C>G	ENST00000345034.1	+	1	1685	c.1685C>G	c.(1684-1686)tCa>tGa	p.S562*	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	562					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCATCATCAAGTCCTGCC	0.463000													49	209					0	0	0.870114	0	0
PPME1	51400	broad.mit.edu	37	11	73882471	73882471	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:73882471C>G	ENST00000328257.8	+	1	328	c.5C>G	c.(4-6)tCg>tGg	p.S2W	PPME1_ENST00000542710.1_3'UTR|PPME1_ENST00000398427.4_Missense_Mutation_p.S2W			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	2					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					CCCTCGATGTCGGCCCTCGAA	0.642000													8	35					0	0	0.278610	0	0
LY75	4065	broad.mit.edu	37	2	160667045	160667045	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160667045G>C	ENST00000263636.4	-	32	4718	c.4691C>G	c.(4690-4692)tCa>tGa	p.S1564*	LY75_ENST00000553424.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000554112.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.S1564*	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACCATGTTTTGAACACAATTT	0.338000													15	129					0	0	0.539581	0	0
COPG1	22820	broad.mit.edu	37	3	128991687	128991687	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:128991687C>G	ENST00000314797.6	+	21	2300	c.2196C>G	c.(2194-2196)gtC>gtG	p.V732V		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	732	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										AGTTCACTGTCAAGGACTGTG	0.547000													11	67					0	0	0.457914	0	0
ERBB2	2064	broad.mit.edu	37	17	37884180	37884180	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37884180C>T	ENST00000406381.2	+	29	4071	c.3561C>T	c.(3559-3561)ttC>ttT	p.F1187F	ERBB2_ENST00000541774.1_Silent_p.F1202F|ERBB2_ENST00000540147.1_Silent_p.F1187F|ERBB2_ENST00000584601.1_Silent_p.F1187F|ERBB2_ENST00000445658.2_Silent_p.F941F|ERBB2_ENST00000269571.5_Silent_p.F1217F|ERBB2_ENST00000584450.1_3'UTR	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1217					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCCCAGCCTTCGACAACCTCT	0.627000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			25	153					0	0	0.706142	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47641868	47641868	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:47641868G>C	ENST00000371917.4	+	36	4774	c.4774G>C	c.(4774-4776)Gat>Cat	p.D1592H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1592					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCTGGATGCAGATATCCACAT	0.478000													3	22					0	0	0.150653	0	0
TRIM47	91107	broad.mit.edu	37	17	73872363	73872363	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73872363C>T	ENST00000254816.2	-	3	1008	c.982G>A	c.(982-984)Gac>Aac	p.D328N	TRIM47_ENST00000587339.1_Missense_Mutation_p.D90N	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	328						cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGACTGAGTCAGCTTCAGGG	0.662000													10	26					0	0	0.435327	0	0
TECTA	7007	broad.mit.edu	37	11	120996548	120996548	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:120996548C>A	ENST00000392793.1	+	8	2012	c.1741C>A	c.(1741-1743)Cca>Aca	p.P581T	TECTA_ENST00000264037.2_Missense_Mutation_p.P581T			O75443	TECTA_HUMAN	tectorin alpha	581					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)		CCTTGGCATTCCAATTGGAGA	0.592000													6	52					2.0095e-06	2.09576e-06	0.248553	1	0
FRY	10129	broad.mit.edu	37	13	32721489	32721489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:32721489G>A	ENST00000380250.3	+	12	1746	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TACATGATTCGAATTAAATGT	0.398000													3	27					0	0	0.115264	0	0
CCDC178	374864	broad.mit.edu	37	18	30926330	30926330	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:30926330G>T	ENST00000383096.3	-	9	685	c.503C>A	c.(502-504)tCa>tAa	p.S168*	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.S168*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.S168*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.S168*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.S168*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.S168*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.S168*					coiled-coil domain containing 178																		AATGGCCTCTGAGAGCAATGT	0.348000													5	36					5.18039e-06	5.38564e-06	0.278610	1	0
SEMA5B	54437	broad.mit.edu	37	3	122667551	122667551	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:122667551G>A	ENST00000195173.4	-	3	433	c.130C>T	c.(130-132)Ctc>Ttc	p.L44F	SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000357599.3_Missense_Mutation_p.L44F|SEMA5B_ENST00000451055.2_Missense_Mutation_p.L98F			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	44					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGACAGGGGAGAAGACCTGCA	0.592000													5	46					0	0	0.217242	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574729	60574729	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:60574729G>A	ENST00000406854.1	+	2	927	c.373G>A	c.(373-375)Gag>Aag	p.E125K	PCNXL4_ENST00000391611.2_Missense_Mutation_p.E125K|PCNXL4_ENST00000404681.2_Missense_Mutation_p.E125K|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000317623.4_Intron					pecanex-like 4 (Drosophila)																		TACTGGTGCTGAGACTGTCAA	0.383000													6	16					0	0	0.217242	0	0
NAV3	89795	broad.mit.edu	37	12	78513293	78513293	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:78513293C>T	ENST00000397909.2	+	15	3490	c.3317C>T	c.(3316-3318)tCa>tTa	p.S1106L	NAV3_ENST00000228327.6_Missense_Mutation_p.S1106L|NAV3_ENST00000266692.7_Missense_Mutation_p.S1106L|NAV3_ENST00000536525.2_Missense_Mutation_p.S1106L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1106	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGCGGGAAGTCAAATGCAGGG	0.483000										HNSCC(70;0.22)			13	67					0	0	0.479597	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204380470	204380470	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:204380470A>G	ENST00000367188.4	-	1	449	c.70T>C	c.(70-72)Ttt>Ctt	p.F24L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	24					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CGAGGGAAAAAGGGTGGCCAG	0.627000													4	117					0	0	0.217242	0	0
FAM179B	23116	broad.mit.edu	37	14	45433339	45433339	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:45433339G>A	ENST00000361462.2	+	1	1898	c.1715G>A	c.(1714-1716)aGa>aAa	p.R572K	FAM179B_ENST00000361577.3_Missense_Mutation_p.R572K|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.R572K			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	572							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GTGCAGGCCAGATTGGCTAGG	0.468000													14	118					0	0	0.479597	0	0
VANGL2	57216	broad.mit.edu	37	1	160389332	160389332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:160389332C>T	ENST00000368061.2	+	4	1207	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	245					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCCAGCCTCAGTTCACGCT	0.647000													4	64					0	0	0.150653	0	0
LOC440040	440040	broad.mit.edu	37	11	49831369	49831369	+	RNA	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:49831369G>C	ENST00000527477.1	+	0	1594																											ATTTGTATTGGATGTGACCGT	0.393000													2	11					0	0	0.115264	0	0
WNT3A	89780	broad.mit.edu	37	1	228210479	228210479	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:228210479G>T	ENST00000284523.1	+	2	261	c.183G>T	c.(181-183)gaG>gaT	p.E61D	WNT3A_ENST00000366753.2_Missense_Mutation_p.E61D	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	61					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACTACGTGGAGATCATGCCCA	0.652000													26	111					9.65021e-13	1.02852e-12	0.750413	1	0
RNF39	80352	broad.mit.edu	37	6	30043525	30043525	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:30043525C>G	ENST00000244360.6	-	1	139	c.42G>C	c.(40-42)aaG>aaC	p.K14N	RNF39_ENST00000376751.3_Missense_Mutation_p.K14N	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	14						cytoplasm	zinc ion binding										TTGCCTCTCTCTTCAACCAGA	0.577000													11	117					0	0	0.411799	0	0
SEC24A	10802	broad.mit.edu	37	5	134032871	134032871	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:134032871C>G	ENST00000398844.2	+	14	2330	c.2042C>G	c.(2041-2043)tCt>tGt	p.S681C		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	681					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGACTGTTCTGGTCAGCAA	0.328000													12	89					0	0	0.479597	0	0
TRIM15	89870	broad.mit.edu	37	6	30131831	30131831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:30131831C>T	ENST00000376694.4	+	1	839	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	124					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGAGGCCATTCAGCCCTACCG	0.577000													14	96					0	0	0.592651	0	0
TCN2	6948	broad.mit.edu	37	22	31019015	31019015	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:31019015C>T	ENST00000215838.3	+	8	1661	c.1167C>T	c.(1165-1167)gcC>gcT	p.A389A	TCN2_ENST00000407817.3_Silent_p.A362A|TCN2_ENST00000405742.3_Silent_p.A385A			P20062	TCO2_HUMAN	transcobalamin II	389					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAAAGCGGCCGGAGAAAGGG	0.562000													9	96					0	0	0.387290	0	0
CHMP6	79643	broad.mit.edu	37	17	78971126	78971126	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:78971126G>A	ENST00000325167.5	+	6	558	c.480G>A	c.(478-480)ctG>ctA	p.L160L		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	160					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGAGGAGCTGAGCGCAATCA	0.632000													5	32					0	0	0.217242	0	0
STXBP1	6812	broad.mit.edu	37	9	130434372	130434372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:130434372C>T	ENST00000373302.3	+	12	1145	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	STXBP1_ENST00000373299.1_Nonsense_Mutation_p.Q336*|STXBP1_ENST00000481942.1_3'UTR	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	336					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GAAGATGCCTCAGTACCAGAA	0.473000													20	69					0	0	0.654019	0	0
R3HDM2	22864	broad.mit.edu	37	12	57677750	57677750	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57677750C>T	ENST00000402412.1	-	13	1418	c.1028G>A	c.(1027-1029)aGc>aAc	p.S343N	R3HDM2_ENST00000441731.2_5'UTR|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S329N|R3HDM2_ENST00000347140.3_Missense_Mutation_p.S329N|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S329N|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S56N			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	329	Ser-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GTCTGTGCTGCTCCAAGGGCG	0.597000													9	47					0	0	0.307466	0	0
THAP8	199745	broad.mit.edu	37	19	36545042	36545042	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:36545042G>C	ENST00000292894.1	-	1	622	c.78C>G	c.(76-78)ttC>ttG	p.F26L	THAP8_ENST00000524106.1_Intron|THAP8_ENST00000538849.1_5'UTR	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	26							DNA binding|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCACTTGTAGAAGCTCACAG	0.672000													8	58					0	0	0.335167	0	0
KARS	3735	broad.mit.edu	37	16	75681495	75681495	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:75681495C>T	ENST00000302445.3	-	1	82	c.43G>A	c.(43-45)Gag>Aag	p.E15K	KARS_ENST00000568378.1_5'UTR|KARS_ENST00000319410.5_5'UTR	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	15					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AGTTTCGGCTCGCTGCCATCC	0.587000													7	38					0	0	0.307466	0	0
RBP3	5949	broad.mit.edu	37	10	48389979	48389979	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:48389979C>G	ENST00000224600.4	-	1	1012	c.899G>C	c.(898-900)gGg>gCg	p.G300A		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	300	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)	GGGCAGCACCCCGCTGCCCTC	0.677000													8	34					0	0	0.361761	0	0
TTC30A	92104	broad.mit.edu	37	2	178482268	178482268	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:178482268C>G	ENST00000355689.5	-	1	1426	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	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)			CGAAGCTGCTCAGTCAGCATC	0.463000													18	129					0	0	0.575678	0	0
GPR137C	283554	broad.mit.edu	37	14	53020091	53020091	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:53020091G>A	ENST00000321662.6	+	1	226	c.226G>A	c.(226-228)Gag>Aag	p.E76K		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	76						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					CCTGTACCGCGAGCGGCGGCT	0.677000													3	17					0	0	0.217242	0	0
ADH1A	124	broad.mit.edu	37	4	100200605	100200605	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:100200605C>G	ENST00000209668.2	-	8	1194	c.1081G>C	c.(1081-1083)Gac>Cac	p.D361H	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	361					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TGAAGCAGGTCAAATCCTTCA	0.338000													6	11					0	0	0.217242	0	0
ELOVL7	79993	broad.mit.edu	37	5	60050591	60050591	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:60050591G>T	ENST00000505959.1	-	11	1193	c.667C>A	c.(667-669)Cca>Aca	p.P223T	ELOVL7_ENST00000508821.1_Missense_Mutation_p.P236T|ELOVL7_ENST00000425382.1_Missense_Mutation_p.P236T|ELOVL7_ENST00000438340.1_Missense_Mutation_p.P236T			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	236					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GCAAAGACTGGAAACTGATAC	0.393000													5	23					0.00116845	0.00119393	0.217242	1	0
JKAMP	51528	broad.mit.edu	37	14	59965517	59965517	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:59965517G>A	ENST00000554271.1	+	5	1099	c.573G>A	c.(571-573)aaG>aaA	p.K191K	RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Silent_p.K185K|JKAMP_ENST00000425728.2_Silent_p.K171K|JKAMP_ENST00000261247.9_Silent_p.K177K	NM_001284201.1	NP_001271130.1	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	192					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TTCTGGTGAAGAAGATTGCAT	0.363000													4	22					0	0	0.217242	0	0
BPTF	2186	broad.mit.edu	37	17	65925584	65925584	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:65925584G>A	ENST00000321892.4	+	19	6570	c.6509G>A	c.(6508-6510)gGa>gAa	p.G2170E	BPTF_ENST00000306378.6_Missense_Mutation_p.G2044E|BPTF_ENST00000335221.5_Missense_Mutation_p.G2170E|BPTF_ENST00000424123.3_Missense_Mutation_p.G2031E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2170					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCTCTGGAGGAACCACAAGC	0.398000													8	37					0	0	0.278610	0	0
HEATR5B	54497	broad.mit.edu	37	2	37280645	37280645	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:37280645C>G	ENST00000233099.5	-	17	2600	c.2505G>C	c.(2503-2505)aaG>aaC	p.K835N	HEATR5B_ENST00000354531.2_Splice_Site_p.K835N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	835							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAGTAAATACCTTTAGTGCAC	0.308000													7	44					0	0	0.278610	0	0
RRH	10692	broad.mit.edu	37	4	110757312	110757312	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:110757312G>A	ENST00000317735.4	+	4	581	c.547G>A	c.(547-549)Gat>Aat	p.D183N		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	183					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)		GAGGAAAAATGATAGGTAAGA	0.398000													5	42					0	0	0.217242	0	0
WHSC1	7468	broad.mit.edu	37	4	1940246	1940246	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:1940246C>G	ENST00000503128.1	+	8	1950	c.1743C>G	c.(1741-1743)ctC>ctG	p.L581L	WHSC1_ENST00000514045.1_Silent_p.L581L|WHSC1_ENST00000382895.3_Silent_p.L581L|WHSC1_ENST00000420906.2_Silent_p.L581L|WHSC1_ENST00000398261.1_Silent_p.L581L|WHSC1_ENST00000508803.1_Silent_p.L581L|WHSC1_ENST00000382892.2_Silent_p.L581L|WHSC1_ENST00000382891.5_Silent_p.L581L			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	581					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTCCTCGCTCAAGAGCCAGG	0.498000			T	IGH@	MM								10	86					0	0	0.435327	0	0
GPSM1	26086	broad.mit.edu	37	9	139250941	139250941	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:139250941G>T	ENST00000440944.1	+	13	1980	c.1760G>T	c.(1759-1761)cGa>cTa	p.R587L	GPSM1_ENST00000429455.1_Missense_Mutation_p.R78L|GPSM1_ENST00000392944.1_Missense_Mutation_p.R78L	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	587					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGCACCTCCGAGGCCACGGC	0.716000													14	56					8.60227e-14	9.1907e-14	0.500413	1	0
NPIPB5	100132247	broad.mit.edu	37	16	22546307	22546307	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:22546307C>G	ENST00000424340.1	+	7	2282	c.2003C>G	c.(2002-2004)tCa>tGa	p.S668*	NPIPB5_ENST00000517539.1_Nonsense_Mutation_p.S668*|NPIPB5_ENST00000415654.1_3'UTR	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		ATGATAATCTCAAGACACCTT	0.602000													11	244					0	0	0.592651	0	0
KCNQ5	56479	broad.mit.edu	37	6	73843259	73843259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:73843259G>T	ENST00000342056.2	+	11	1818	c.1420G>T	c.(1420-1422)Gag>Tag	p.E474*	KCNQ5_ENST00000370398.1_Nonsense_Mutation_p.E455*|KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.E465*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.E456*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.E455*|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.E446*	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	455					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CATCACAGCCGAGGGCAGTCC	0.592000													9	106					0.00621372	0.0063295	0.335167	1	0
CLPTM1	1209	broad.mit.edu	37	19	45490661	45490661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:45490661G>A	ENST00000541297.2	+	8	1441	c.976G>A	c.(976-978)Gag>Aag	p.E326K	CLPTM1_ENST00000546079.1_Missense_Mutation_p.E238K|CLPTM1_ENST00000337392.5_Missense_Mutation_p.E340K			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	340					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCAGTCAGATGAGGAGCAGGA	0.632000													10	84					0	0	0.500413	0	0
LMTK2	22853	broad.mit.edu	37	7	97821789	97821789	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:97821789C>T	ENST00000297293.5	+	11	2305	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	671					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACTTTAAGTTCCAGTTTGGAT	0.413000													17	99					0	0	0.557998	0	0
TIMELESS	8914	broad.mit.edu	37	12	56817207	56817207	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56817207G>C	ENST00000229201.4	-	18	2294	c.2140C>G	c.(2140-2142)Cag>Gag	p.Q714E	TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q715E|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	715					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTATTCTGCTGGTAGCTCCTT	0.488000													5	103					0	0	0.184627	0	0
KIF16B	55614	broad.mit.edu	37	20	16359787	16359787	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:16359787C>T	ENST00000354981.2	-	19	3017	c.2860G>A	c.(2860-2862)Gaa>Aaa	p.E954K	KIF16B_ENST00000378003.2_Missense_Mutation_p.E180K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E954K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E954K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	954	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAAGCTGTTCTTCTTTTTCT	0.438000													6	80					0	0	0.307466	0	0
ZNF830	91603	broad.mit.edu	37	17	33288630	33288630	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:33288630G>C	ENST00000361952.3	+	1	82	c.45G>C	c.(43-45)gtG>gtC	p.V15V		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	15					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GGAAGCGAGTGATAAATCAGG	0.557000													21	132					0	0	0.639603	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750571	140750571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140750571G>A	ENST00000576222.1	+	1	741	c.610G>A	c.(610-612)Gag>Aag	p.E204K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGGGAAGAGCAGCCACA	0.552000													10	48					0	0	0.335167	0	0
HECTD4	283450	broad.mit.edu	37	12	112707527	112707527	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:112707527C>T	ENST00000550722.1	-	13	2265	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	HECTD4_ENST00000377560.5_Missense_Mutation_p.E586K|HECTD4_ENST00000430131.2_Missense_Mutation_p.E336K	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGGCAGACTTCCTTCTGAATT	0.423000													3	19					0	0	0.150653	0	0
MICAL3	57553	broad.mit.edu	37	22	18324667	18324667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:18324667C>T	ENST00000441493.2	-	20	3074	c.2722G>A	c.(2722-2724)Gag>Aag	p.E908K	MICAL3_ENST00000414725.2_Missense_Mutation_p.E936K|MICAL3_ENST00000383094.3_Missense_Mutation_p.E908K|MICAL3_ENST00000400561.2_Missense_Mutation_p.E908K|MICAL3_ENST00000444520.1_Missense_Mutation_p.E908K|MICAL3_ENST00000207726.7_Missense_Mutation_p.E936K	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	908	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCGGTACCTCCTGCAGTGCC	0.682000													3	15					0	0	0.150653	0	0
MTTP	4547	broad.mit.edu	37	4	100512501	100512501	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:100512501C>T	ENST00000457717.1	+	6	867	c.611C>T	c.(610-612)cCa>cTa	p.P204L	MTTP_ENST00000511045.1_Missense_Mutation_p.P231L|MTTP_ENST00000265517.5_Missense_Mutation_p.P204L	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	204	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TTTACGACCCCAAATCAGGTA	0.328000													3	22					0	0	0.150653	0	0
ITGA3	3675	broad.mit.edu	37	17	48155409	48155409	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:48155409G>A	ENST00000320031.8	+	17	2469		c.e17-1		ITGA3_ENST00000007722.7_Splice_Site	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)						blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CCTTGTGGCAGATGGAGCTGC	0.592000													13	158					0	0	0.500413	0	0
LNX2	222484	broad.mit.edu	37	13	28141891	28141891	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:28141891G>A	ENST00000316334.3	-	4	870	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	247	PDZ 1.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCACAATGCTGATTCCTAACT	0.458000													6	53					0	0	0.217242	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289391	160289391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160289391C>T	ENST00000392783.2	-	9	2272	c.1777G>A	c.(1777-1779)Gga>Aga	p.G593R	BAZ2B_ENST00000343439.5_Missense_Mutation_p.G591R|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G593R|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G591R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GAATCTGTTCCTCTGAATTGT	0.383000													16	82					0	0	0.479597	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7647116	7647116	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:7647116G>C	ENST00000299492.4	+	8	1208	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.E131Q|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.E116Q|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.E162Q	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	274					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GAGTCACACAGAGAGAGGTGA	0.507000													3	38					0	0	0.150653	0	0
MCM8	84515	broad.mit.edu	37	20	5939338	5939338	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:5939338C>G	ENST00000378896.3	+	7	1132	c.755C>G	c.(754-756)cCt>cGt	p.P252R	MCM8_ENST00000378883.1_Missense_Mutation_p.P252R|MCM8_ENST00000378886.2_Missense_Mutation_p.P252R|MCM8_ENST00000265187.4_Missense_Mutation_p.P252R	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	252					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CAGAGCTTTCCTCTTCCAGAT	0.388000													4	33					0	0	0.217242	0	0
FAM65B	9750	broad.mit.edu	37	6	24873898	24873898	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:24873898G>C	ENST00000259698.4	-	3	406	c.231C>G	c.(229-231)gtC>gtG	p.V77V	FAM65B_ENST00000538035.1_Silent_p.V106V|FAM65B_ENST00000540914.1_Silent_p.V77V|FAM65B_ENST00000378023.4_Silent_p.V77V|FAM65B_ENST00000510784.2_Silent_p.V111V	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	77	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGGCCCTGTAGACTTCTTCCA	0.438000													9	68					0	0	0.411799	0	0
RBPJ	3516	broad.mit.edu	37	4	26432520	26432520	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:26432520C>T	ENST00000342320.4	+	11	1528	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	RBPJ_ENST00000361572.6_Missense_Mutation_p.S465L|RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000507561.1_Missense_Mutation_p.S430L|RBPJ_ENST00000348160.4_Missense_Mutation_p.S452L|RBPJ_ENST00000355476.3_Missense_Mutation_p.S451L|RBPJ_ENST00000345843.3_Missense_Mutation_p.S450L|RBPJ_ENST00000342295.1_Missense_Mutation_p.S465L			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	465					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CGAGCCAATTCAAGCCAGGTG	0.507000													10	69					0	0	0.387290	0	0
CEP170	9859	broad.mit.edu	37	1	243328189	243328189	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:243328189C>T	ENST00000366542.1	-	13	3124	c.3073G>A	c.(3073-3075)Gat>Aat	p.D1025N	CEP170_ENST00000366543.1_Missense_Mutation_p.D927N|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.D927N|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1025	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTTTGGTCATCATCTGTTAAG	0.423000													8	41					0	0	0.335167	0	0
DGCR5	26220	broad.mit.edu	37	22	18979420	18979420	+	RNA	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:18979420C>T	ENST00000438934.1	+	0	2771				DGCR5_ENST00000440005.2_RNA																							TGGAGAGGCCCGTCCTGGTGG	0.582000													6	21					0	0	0.278610	0	0
SIPA1	6494	broad.mit.edu	37	11	65417656	65417656	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:65417656G>A	ENST00000394224.3	+	14	3192	c.2896G>A	c.(2896-2898)Gat>Aat	p.D966N	SIPA1_ENST00000527525.1_Missense_Mutation_p.D864N|SIPA1_ENST00000534313.1_Missense_Mutation_p.D966N|SIPA1_ENST00000394227.3_Missense_Mutation_p.D864N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	966					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TCCAAAATCTGATGCTGAGTA	0.602000													34	113					0	0	0.834066	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077589	32077589	+	RNA	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:32077589C>T	ENST00000354689.6	+	0	204				RP11-1166P10.6_ENST00000566806.1_RNA																							AAGGCCGATTCACCATCTCCA	0.517000													23	657					0	0	0.834066	0	0
PRRC2B	84726	broad.mit.edu	37	9	134308165	134308165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:134308165C>T	ENST00000357304.4	+	2	332	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.Q93*|PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.Q93*	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	93							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAAGCAGGATCAGCAAGACCC	0.562000													10	74					0	0	0.411799	0	0
CCHCR1	54535	broad.mit.edu	37	6	31110790	31110790	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:31110790G>A	ENST00000396268.3	-	17	2629	c.2441C>T	c.(2440-2442)tCa>tTa	p.S814L	CCHCR1_ENST00000451521.2_Missense_Mutation_p.S778L|CCHCR1_ENST00000376266.5_Missense_Mutation_p.S725L|CCHCR1_ENST00000396263.2_Missense_Mutation_p.S672L	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	725					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGCAGATGCTGAACACTCTGG	0.547000													32	353					0	0	0.819951	0	0
NXPE3	91775	broad.mit.edu	37	3	101520284	101520284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:101520284G>A	ENST00000422132.1	+	2	496	c.299G>A	c.(298-300)aGc>aAc	p.S100N	NXPE3_ENST00000491511.2_Missense_Mutation_p.S100N|NXPE3_ENST00000273347.5_Missense_Mutation_p.S100N|NXPE3_ENST00000477909.1_Missense_Mutation_p.S100N					neurexophilin and PC-esterase domain family, member 3																		TTTGTGAAGAGCACTGACCCT	0.557000													11	73					0	0	0.435327	0	0
ATP8B3	148229	broad.mit.edu	37	19	1811570	1811570	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1811570C>T	ENST00000539485.1	-	2	399	c.166G>A	c.(166-168)Gac>Aac	p.D56N	ATP8B3_ENST00000310127.6_Missense_Mutation_p.D56N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.D3N|ATP8B3_ENST00000526092.2_Missense_Mutation_p.D3N			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	56					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGGAGTCTCCCATCCCA	0.637000													3	57					0	0	0.307466	0	0
BTN3A1	11119	broad.mit.edu	37	6	26407997	26407997	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26407997C>A	ENST00000289361.6	+	4	900	c.532C>A	c.(532-534)Cag>Aag	p.Q178K	BTN3A1_ENST00000425234.2_Missense_Mutation_p.Q178K|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Q178K|BTN3A1_ENST00000414912.2_Intron	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	178	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACCCCAAATACAGTGGAGCAA	0.537000													25	119					8.58068e-18	9.2429e-18	0.717897	1	0
TFEB	7942	broad.mit.edu	37	6	41655745	41655745	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:41655745G>T	ENST00000394283.1	-	5	1797	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	TFEB_ENST00000373033.1_Missense_Mutation_p.L191M|TFEB_ENST00000358871.2_Missense_Mutation_p.L205M|TFEB_ENST00000420312.1_Missense_Mutation_p.L106M|TFEB_ENST00000230323.4_Missense_Mutation_p.L191M|TFEB_ENST00000403298.4_Missense_Mutation_p.L191M			P19484	TFEB_HUMAN	transcription factor EB	191					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TACACATTCAGGTGGCTGCTG	0.657000			T	ALPHA	renal (childhood epithelioid)								30	153					1.06801e-11	1.13644e-11	0.740014	1	0
EPG5	57724	broad.mit.edu	37	18	43467730	43467730	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:43467730C>G	ENST00000282041.5	-	29	5129	c.5095G>C	c.(5095-5097)Gag>Cag	p.E1699Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1699					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCCAAGATCTCAATACATGAA	0.433000													13	54					0	0	0.557998	0	0
BIRC6	57448	broad.mit.edu	37	2	32640519	32640519	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:32640519G>A	ENST00000421745.2	+	10	2294	c.2160G>A	c.(2158-2160)ttG>ttA	p.L720L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	720					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)					TTCAGTGCTTGAGGCTGCCAA	0.483000													7	20					0	0	0.278610	0	0
ATIC	471	broad.mit.edu	37	2	216190858	216190858	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:216190858G>A	ENST00000435675.1	+	5	916	c.525G>A	c.(523-525)ttG>ttA	p.L175L	ATIC_ENST00000540518.1_Silent_p.L117L|ATIC_ENST00000236959.9_Silent_p.L176L			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	176					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AGTTAGCCTTGAAGGTGGGAT	0.488000			T	ALK	ALCL								11	77					0	0	0.500413	0	0
MYH2	4620	broad.mit.edu	37	17	10441042	10441042	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:10441042G>C	ENST00000245503.5	-	15	1911	c.1527C>G	c.(1525-1527)atC>atG	p.I509M	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.I509M|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.I509M	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	509	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACGTCCACTCGATGCCTTCCT	0.493000													17	199					0	0	0.608945	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3662532	3662532	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:3662532G>A	ENST00000452079.1	-	0	1354				TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA	NR_033711.1																						GGTGGAGGCAGATGGTGTTGC	0.592000													40	190					0	0	0.870114	0	0
PARD3	56288	broad.mit.edu	37	10	34420503	34420503	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:34420503G>C	ENST00000374789.3	-	23	3762	c.3437C>G	c.(3436-3438)tCa>tGa	p.S1146*	PARD3_ENST00000374794.3_Nonsense_Mutation_p.S1034*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.S1056*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.S1100*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.S1143*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.S1086*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.S1130*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.S1109*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1146					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCTAGGAGTTGATCTGTTACT	0.423000													13	82					0	0	0.479597	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212805	100212805	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:100212805G>A	ENST00000393950.2	+	5	989	c.707G>A	c.(706-708)tGa>tAa	p.*236*	MOSPD3_ENST00000223054.4_Silent_p.*236*|MOSPD3_ENST00000379527.2_Silent_p.*236*|MOSPD3_ENST00000424091.2_Silent_p.*226*	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	0						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCCGGACCTGAGCTCCGTGC	0.622000													16	103					0	0	0.608945	0	0
JPH1	56704	broad.mit.edu	37	8	75227753	75227753	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:75227753G>C	ENST00000342232.4	-	2	522	c.482C>G	c.(481-483)aCc>aGc	p.T161S		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	161					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGCCAGCGAGGTACGCAGCGG	0.731000													5	48					0	0	0.278610	0	0
SH3TC2	79628	broad.mit.edu	37	5	148411215	148411215	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:148411215C>T	ENST00000515425.1	-	9	1138	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K	SH3TC2_ENST00000394358.2_Missense_Mutation_p.R231K|SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R339K	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	346							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGAGCATCTCTCCTCATC	0.522000													10	52					0	0	0.411799	0	0
C15orf27	123591	broad.mit.edu	37	15	76463343	76463343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:76463343G>A	ENST00000388942.3	+	7	799	c.523G>A	c.(523-525)Ggg>Agg	p.G175R		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	175						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GGTGTTTGACGGGGCTGTGAT	0.617000													20	19					0	0	0.681144	0	0
OR2H2	7932	broad.mit.edu	37	6	29556417	29556417	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:29556417G>A	ENST00000383640.2	+	1	735	c.696G>A	c.(694-696)cgG>cgA	p.R232R	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	232				KGR -> TAW (in Ref. 1; AAB36567).	defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAAAAGGGCGGAGGAAAGCTT	0.527000													12	98					0	0	0.411799	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8438619	8438619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:8438619C>G	ENST00000301455.2	+	7	1241	c.1070C>G	c.(1069-1071)tCc>tGc	p.S357C	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.S190C|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.S319C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	357	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TGCAGCCATTCCAACCTCAAC	0.607000													66	501					0	0	0.870114	0	0
MUC3A	4584	broad.mit.edu	37	7	100552913	100552913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:100552913G>A	ENST00000319509.7	+	2	1558	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTGGGAACAGGGACAGTGTGC	0.557000													5	142					0	0	0.335167	0	0
ZNF600	162966	broad.mit.edu	37	19	53270485	53270485	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53270485G>A	ENST00000338230.3	-	3	791	c.524C>T	c.(523-525)tCa>tTa	p.S175L		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CCTTAAGAGTGAGCTACAATT	0.373000													15	74					0	0	0.539581	0	0
B3GNT9	84752	broad.mit.edu	37	16	67183434	67183434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67183434G>C	ENST00000449549.3	-	2	1490	c.955C>G	c.(955-957)Ctg>Gtg	p.L319V		NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	319					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						CACATGCCCAGAAAGACGTCG	0.687000													5	12					0	0	0.278610	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291072	141291072	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:141291072C>T	ENST00000247452.3	-	3	1049	c.702G>A	c.(700-702)ctG>ctA	p.L234L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	234	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGATCACACTCAGAATAATAA	0.512000										HNSCC(46;0.14)			16	94					0	0	0.592651	0	0
TP53TG3D	729264	broad.mit.edu	37	16	32265033	32265033	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:32265033C>G	ENST00000398664.3	+	1	994	c.359C>G	c.(358-360)tCa>tGa	p.S120*	RP11-56L13.7_ENST00000562604.1_RNA|TP53TG3D_ENST00000354614.3_Nonsense_Mutation_p.S120*|TP53TG3D_ENST00000569631.1_Intron	NM_001243722.1	NP_001230651.1			TP53 target 3D																		GCAGGGTTGTCAAGGTAACGC	0.602000													10	158					0	0	0.411799	0	0
PDE4A	5141	broad.mit.edu	37	19	10577958	10577958	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:10577958G>T	ENST00000380702.2	+	16	2256	c.2256G>T	c.(2254-2256)ctG>ctT	p.L752L	PDE4A_ENST00000293683.5_Silent_p.L748L|PDE4A_ENST00000344979.3_Silent_p.L535L|PDE4A_ENST00000592685.1_Silent_p.L752L|PDE4A_ENST00000440014.2_Silent_p.L713L|PDE4A_ENST00000352831.6_Silent_p.L774L			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	774					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AGGCCGAGCTGGAGGCAGTGT	0.597000													19	165					4.96729e-08	5.2095e-08	0.575678	1	0
CDH11	1009	broad.mit.edu	37	16	64981694	64981694	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:64981694G>A	ENST00000268603.4	-	13	2818	c.2203C>T	c.(2203-2205)Cct>Tct	p.P735S	CDH11_ENST00000566827.1_Missense_Mutation_p.P609S|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	735					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCATAAGGAGGAGCCGTGGGG	0.567000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			14	41					0	0	0.457914	0	0
ZNF462	58499	broad.mit.edu	37	9	109694815	109694815	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:109694815C>G	ENST00000277225.5	+	5	6390	c.6101C>G	c.(6100-6102)tCt>tGt	p.S2034C	ZNF462_ENST00000441147.2_Missense_Mutation_p.S940C|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.S2094C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2034					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TCGTTTGTTTCTGCTTTCAGG	0.517000													10	98					0	0	0.435327	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873094	51873094	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:51873094G>C	ENST00000371497.5	+	2	3984	c.3097G>C	c.(3097-3099)Gaa>Caa	p.E1033Q	TSHZ2_ENST00000329613.6_Missense_Mutation_p.E1030Q|TSHZ2_ENST00000603338.2_Missense_Mutation_p.E1030Q|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1033					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGACGTGGATGAAGAATAGCT	0.493000													20	249					0	0	0.681144	0	0
HYAL3	8372	broad.mit.edu	37	3	50331093	50331093	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:50331093G>C	ENST00000336307.1	-	3	1226	c.954C>G	c.(952-954)ctC>ctG	p.L318L	HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000415204.1_Silent_p.L69L|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	318					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTCCCCCCAGAGCACCACGC	0.632000													56	169					0	0	0.870114	0	0
BOD1	91272	broad.mit.edu	37	5	173040145	173040145	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:173040145C>T	ENST00000311086.4	-	2	574	c.351G>A	c.(349-351)caG>caA	p.Q117Q	BOD1_ENST00000480951.1_Intron|BOD1_ENST00000471339.1_5'UTR|BOD1_ENST00000285908.5_Silent_p.Q117Q	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	117					cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GAACCACACTCTGCCTCAGAC	0.423000													22	166					0	0	0.667858	0	0
NEB	4703	broad.mit.edu	37	2	152362007	152362007	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:152362007C>G	ENST00000427231.2	-	165	23929	c.23727G>C	c.(23725-23727)caG>caC	p.Q7909H	NEB_ENST00000409198.1_Missense_Mutation_p.Q6208H|NEB_ENST00000604864.1_Missense_Mutation_p.Q7909H|NEB_ENST00000172853.10_Missense_Mutation_p.Q6208H|NEB_ENST00000509223.2_Missense_Mutation_p.Q39H|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000603639.1_Missense_Mutation_p.Q7909H|NEB_ENST00000397345.3_Missense_Mutation_p.Q7909H	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6208					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAATGTGCTTCTGCGTCTCCT	0.468000													20	116					0	0	0.624587	0	0
AVPR1B	553	broad.mit.edu	37	1	206224493	206224493	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206224493C>G	ENST00000367126.4	+	1	518	c.53C>G	c.(52-54)tCt>tGt	p.S18C		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	18					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCACCCTCTCTGCCCCCAAT	0.652000													116	534					0	0	0.870114	0	0
RC3H2	54542	broad.mit.edu	37	9	125621301	125621301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:125621301C>A	ENST00000373670.1	-	11	2530	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*	RC3H2_ENST00000357244.2_Nonsense_Mutation_p.E644*|RC3H2_ENST00000423239.2_Nonsense_Mutation_p.E644*			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	644	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGGGAGGACTCTGGAACGTTA	0.507000													15	62					3.27435e-08	3.44503e-08	0.457914	1	0
IL18RAP	8807	broad.mit.edu	37	2	103057804	103057804	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:103057804G>A	ENST00000264260.2	+	7	1352	c.763G>A	c.(763-765)Gat>Aat	p.D255N	IL18RAP_ENST00000409369.1_Missense_Mutation_p.D113N	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	255	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGATATTCTGGATCCTGTCGA	0.443000													3	63					0	0	0.150653	0	0
FBXL2	25827	broad.mit.edu	37	3	33414612	33414612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:33414612G>A	ENST00000484457.1	+	6	410	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Missense_Mutation_p.E23K|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.E107K|FBXL2_ENST00000507198.1_Missense_Mutation_p.E107K	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	107					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						CCGAAACATTGAACATTTGAA	0.423000													48	112					0	0	0.870114	0	0
KLHL9	55958	broad.mit.edu	37	9	21334174	21334174	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:21334174G>A	ENST00000359039.4	-	1	1205	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	KLHL9_ENST00000537938.1_Missense_Mutation_p.R161W			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	229	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TAATCCATCCGAGGGTCTTCC	0.428000													14	78					0	0	0.457914	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322056	79322056	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:79322056C>T	ENST00000428286.1	-	8	5257	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1712N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1712					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGGATTCATCCTCAGCAACG	0.443000													5	39					0	0	0.248553	0	0
GPC1	2817	broad.mit.edu	37	2	241398601	241398601	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:241398601C>T	ENST00000264039.2	+	2	569	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	107					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.F107F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TGCGCAGCTTCGATGGTGAGT	0.701000													7	28					0	0	0.307466	0	0
ITPR2	3709	broad.mit.edu	37	12	26589263	26589263	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:26589263G>A	ENST00000381340.3	-	48	7076	c.6660C>T	c.(6658-6660)ttC>ttT	p.F2220F		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2220					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCGAGAACCAGAACAGTGCAG	0.418000													4	45					0	0	0.184627	0	0
SRSF1	6426	broad.mit.edu	37	17	56082931	56082931	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:56082931C>G	ENST00000258962.4	-	4	791	c.583G>C	c.(583-585)Gat>Cat	p.D195H	SRSF1_ENST00000582730.2_3'UTR|SRSF1_ENST00000584773.1_Missense_Mutation_p.D195H|SRSF1_ENST00000585096.1_Intron	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	195	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCCCATCAACTTTAACC	0.463000													7	83					0	0	0.335167	0	0
NDUFS4	4724	broad.mit.edu	37	5	52942189	52942189	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:52942189G>A	ENST00000296684.5	+	3	332	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	102					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	GATGGAGTTTGATACCAGAGA	0.373000													5	40					0	0	0.361761	0	0
HELB	92797	broad.mit.edu	37	12	66703693	66703693	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:66703693C>T	ENST00000247815.4	+	4	1044	c.985C>T	c.(985-987)Cat>Tat	p.H329Y		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	329					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TATGTCATTTCATGCTGCTTC	0.383000													10	69					0	0	0.361761	0	0
SULF1	23213	broad.mit.edu	37	8	70515500	70515500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:70515500G>A	ENST00000260128.4	+	11	1852	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	SULF1_ENST00000402687.4_Missense_Mutation_p.D379N|SULF1_ENST00000419716.3_Missense_Mutation_p.D379N|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.D379N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	379					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CACACCTCCTGATGTGGACGG	0.542000													29	110					0	0	0.717897	0	0
RAI1	10743	broad.mit.edu	37	17	17700429	17700429	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:17700429G>A	ENST00000353383.1	+	3	4636	c.4167G>A	c.(4165-4167)caG>caA	p.Q1389Q	RAI1_ENST00000261641.6_Silent_p.Q1389Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1389						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCACCGGGCAGAAGCTCCCAA	0.537000													13	79					0	0	0.500413	0	0
MROH1	727957	broad.mit.edu	37	8	145267981	145267981	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145267981C>T	ENST00000423230.2	+	12	1323	c.1226C>T	c.(1225-1227)cCg>cTg	p.P409L	MROH1_ENST00000326134.5_Intron|MROH1_ENST00000534366.1_Intron|MROH1_ENST00000527071.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000528919.1_Intron	NM_001099280.1|NM_001099281.1	NP_001092750|NP_001092751			maestro heat-like repeat family member 1																		CGTGCTGCTCCGCAGCCTGCT	0.557000													22	173					0	0	0.639603	0	0
TCOF1	6949	broad.mit.edu	37	5	149754546	149754546	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:149754546C>T	ENST00000451292.1	+	10	1416	c.1308C>T	c.(1306-1308)gtC>gtT	p.V436V	TCOF1_ENST00000323668.7_Silent_p.V359V|TCOF1_ENST00000504761.2_Silent_p.V436V|TCOF1_ENST00000377797.3_Silent_p.V436V|TCOF1_ENST00000394269.3_Silent_p.V436V|TCOF1_ENST00000439160.2_Silent_p.V436V|TCOF1_ENST00000445265.2_Silent_p.V359V|TCOF1_ENST00000513346.1_Silent_p.V436V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	436					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCCCAGGTCAGAGCCGCCT	0.662000													5	31					0	0	0.217242	0	0
TBX3	6926	broad.mit.edu	37	12	115112445	115112445	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:115112445G>A	ENST00000349155.2	-	6	2198	c.1235C>T	c.(1234-1236)tCg>tTg	p.S412L	TBX3_ENST00000257566.3_Missense_Mutation_p.S432L	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	432					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGAGTCGGGCGACGCTTTGTC	0.731000													8	28					0	0	0.335167	0	0
NLRP3	114548	broad.mit.edu	37	1	247587980	247587980	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:247587980C>T	ENST00000366497.2	+	4	2015	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	NLRP3_ENST00000336119.3_Missense_Mutation_p.P412L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.P412L|NLRP3_ENST00000366496.2_Missense_Mutation_p.P412L|NLRP3_ENST00000391828.3_Missense_Mutation_p.P412L|NLRP3_ENST00000348069.2_Missense_Mutation_p.P412L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	412	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCTTCATCCCCCTGGTCTGC	0.542000													5	91					0	0	0.217242	0	0
DST	667	broad.mit.edu	37	6	56479189	56479189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:56479189C>G	ENST00000370754.5	-	36	4923	c.4924G>C	c.(4924-4926)Gag>Cag	p.E1642Q	DST_ENST00000312431.6_Missense_Mutation_p.E1464Q|DST_ENST00000361203.3_Missense_Mutation_p.E1464Q|DST_ENST00000446842.2_Missense_Mutation_p.E1138Q|DST_ENST00000244364.6_Missense_Mutation_p.E1138Q|DST_ENST00000370769.4_Missense_Mutation_p.E1464Q|DST_ENST00000370788.2_Missense_Mutation_p.E1464Q|DST_ENST00000421834.2_Missense_Mutation_p.E1464Q			Q03001	DYST_HUMAN	dystonin	1464					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCAGCCTTCTCTGCATCTTTC	0.373000													4	13					0	0	0.150653	0	0
BCL2L13	23786	broad.mit.edu	37	22	18209803	18209803	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:18209803G>A	ENST00000317582.5	+	7	1308	c.961G>A	c.(961-963)Gag>Aag	p.E321K	BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000538149.1_Missense_Mutation_p.E197K|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000543133.1_Missense_Mutation_p.E159K|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000337612.5_Missense_Mutation_p.E159K	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	321	Glu-rich.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GGGCATGGAAGAGGCTGCTGT	0.557000													5	36					0	0	0.278610	0	0
YIPF3	25844	broad.mit.edu	37	6	43481347	43481347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:43481347G>C	ENST00000372422.2	-	4	602	c.420C>G	c.(418-420)atC>atG	p.I140M	YIPF3_ENST00000506469.1_Missense_Mutation_p.I146M	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	140					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGACCATCTTGATAGGGATCA	0.562000													4	95					0	0	0.150653	0	0
LSAMP	4045	broad.mit.edu	37	3	115560818	115560818	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:115560818C>G	ENST00000490035.2	-	6	1292	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.E262Q	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein		Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTCTTAATCTCAAGGCCATTG	0.483000													6	51					0	0	0.278610	0	0
COL18A1	80781	broad.mit.edu	37	21	46898256	46898256	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:46898256G>A	ENST00000359759.4	+	8	2503	c.2482G>A	c.(2482-2484)Gac>Aac	p.D828N	COL18A1_ENST00000355480.5_Missense_Mutation_p.D593N|COL18A1_ENST00000400337.2_Missense_Mutation_p.D413N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	828	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCCGGTGAAGACGGAAAGCC	0.527000											OREG0026262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	73					0	0	0.217242	0	0
KLB	152831	broad.mit.edu	37	4	39448748	39448748	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:39448748C>G	ENST00000257408.4	+	4	2499	c.2402C>G	c.(2401-2403)tCg>tGg	p.S801W		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	801	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CTTTCCAGCTCGGCCCTGCCG	0.647000													16	74					0	0	0.520397	0	0
VCAM1	7412	broad.mit.edu	37	1	101194797	101194797	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101194797C>G	ENST00000294728.2	+	5	1164	c.1063C>G	c.(1063-1065)Ctg>Gtg	p.L355V	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.L293V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	355	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGACAGCCCTCTGAGCGGGAA	0.527000													7	49					0	0	0.307466	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58010154	58010154	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:58010154G>T	ENST00000286494.4	+	14	1968	c.1508G>T	c.(1507-1509)gGa>gTa	p.G503V	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.G542V|AC025165.8_ENST00000593846.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	503					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGAGCCCTGGAAGAATTCAG	0.607000													17	77					4.75885e-15	5.10099e-15	0.520397	1	0
F8	2157	broad.mit.edu	37	X	154088779	154088779	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:154088779C>T	ENST00000360256.4	-	25	7028	c.6828G>A	c.(6826-6828)gtG>gtA	p.V2276V	F8_ENST00000330287.6_Silent_p.V141V	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2276	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGAACTCCTTCACATACATGC	0.433000													14	60					0	0	0.500413	0	0
TCEB3	6924	broad.mit.edu	37	1	24077712	24077712	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:24077712C>T	ENST00000418390.2	+	4	966	c.695C>T	c.(694-696)tCa>tTa	p.S232L	TCEB3_ENST00000609199.1_Missense_Mutation_p.S206L	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	232					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCATTGTTTCACACCAGAAG	0.552000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	93					0	0	0.335167	0	0
GPR133	283383	broad.mit.edu	37	12	131471689	131471689	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:131471689G>A	ENST00000261654.5	+	6	1099	c.540G>A	c.(538-540)ctG>ctA	p.L180L	GPR133_ENST00000535015.1_Silent_p.L212L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	180					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGGAGGGCCTGAAAGTCTACG	0.517000													9	63					0	0	0.361761	0	0
RTN3	10313	broad.mit.edu	37	11	63486765	63486765	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:63486765C>G	ENST00000377819.5	+	3	945	c.791C>G	c.(790-792)tCa>tGa	p.S264*	RTN3_ENST00000339997.4_Nonsense_Mutation_p.S245*|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Nonsense_Mutation_p.S152*|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	264					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTTAAAGACTCATATAAGGAG	0.368000													16	28					0	0	0.539581	0	0
CYP3A4	1576	broad.mit.edu	37	7	99364028	99364028	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:99364028C>T	ENST00000354593.2	-	4	490	c.387G>A	c.(385-387)caG>caA	p.Q129Q	CYP3A4_ENST00000336411.2_Silent_p.Q279Q			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	279					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTTTTGAATTCTGAGAGTCAA	0.448000													5	32					0	0	0.248553	0	0
SLC35G2	80723	broad.mit.edu	37	3	136574265	136574265	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:136574265C>G	ENST00000446465.2	+	2	1591	c.963C>G	c.(961-963)ctC>ctG	p.L321L	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.L321L|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	321	DUF6 2.					Golgi apparatus|integral to membrane											GGAGTTATCTCATTGCTATAT	0.388000													22	208					0	0	0.667858	0	0
PI4K2A	55361	broad.mit.edu	37	10	99416092	99416092	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:99416092G>A	ENST00000370631.3	+	3	744	c.687G>A	c.(685-687)gtG>gtA	p.V229V	PI4K2A_ENST00000370649.3_Silent_p.V199V|PI4K2A_ENST00000555577.1_Silent_p.V199V	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	229	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TTGACCGAGTGAAGTCCAGGG	0.493000													13	74					0	0	0.479597	0	0
SLC19A2	10560	broad.mit.edu	37	1	169437922	169437922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:169437922C>G	ENST00000236137.5	-	4	1419	c.1183G>C	c.(1183-1185)Gtc>Ctc	p.V395L	SLC19A2_ENST00000367804.4_Missense_Mutation_p.V194L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	395					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ATTCTGAAGACAACATAGGAT	0.383000													5	56					0	0	0.278610	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:1313343C>T	ENST00000296839.2	+	1	669	c.404C>T	c.(403-405)tCg>tTg	p.S135L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	p.S135L(1)		lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.687000													7	71					0	0	0.335167	0	0
CDA	978	broad.mit.edu	37	1	20944968	20944968	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:20944968C>T	ENST00000375071.3	+	4	530	c.348C>T	c.(346-348)taC>taT	p.Y116Y	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	116					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GGCCCGTGTACATGACCAAGC	0.587000													5	37					0	0	0.307466	0	0
APOB	338	broad.mit.edu	37	2	21228291	21228291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:21228291C>T	ENST00000233242.1	-	26	11576	c.11449G>A	c.(11449-11451)Gaa>Aaa	p.E3817K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3817					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACTGAGATTCAGGCACGGTT	0.423000													8	72					0	0	0.307466	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987285	15987285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15987285C>T	ENST00000345034.1	+	1	922	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	308					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATTTCCACTCAGGATTTACA	0.393000													5	41					0	0	0.217242	0	0
GATS	352954	broad.mit.edu	37	7	99869490	99869490	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:99869490G>C	ENST00000436886.2	-	1	365	c.117C>G	c.(115-117)atC>atG	p.I39M	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN		39										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCAAGTTTGATCAGGCCCG	0.677000													15	122					0	0	0.539581	0	0
DBH	1621	broad.mit.edu	37	9	136507468	136507468	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:136507468C>G	ENST00000393056.2	+	3	638	c.626C>G	c.(625-627)tCa>tGa	p.S209*		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	209					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GAGTTGCCCTCAGACGCGTGC	0.602000													3	45					0	0	0.115264	0	0
RRP1B	23076	broad.mit.edu	37	21	45096750	45096750	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:45096750G>C	ENST00000340648.4	+	8	868	c.751G>C	c.(751-753)Gaa>Caa	p.E251Q		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	251					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GGAGATACCTGAAAATGAGGT	0.453000													7	89					0	0	0.278610	0	0
DCTN4	51164	broad.mit.edu	37	5	150110697	150110697	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:150110697C>T	ENST00000447998.2	-	7	748	c.633G>A	c.(631-633)caG>caA	p.Q211Q	DCTN4_ENST00000424236.1_Silent_p.Q154Q|DCTN4_ENST00000446090.2_Silent_p.Q218Q	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	211						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATCTCTTTCTGATCCTCTC	0.363000													8	33					0	0	0.307466	0	0
FAM105A	54491	broad.mit.edu	37	5	14601215	14601215	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:14601215C>T	ENST00000274217.3	+	2	326	c.206C>T	c.(205-207)tCa>tTa	p.S69L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	69										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CATTTATATTCAGGGCACAAG	0.398000													22	208					0	0	0.681144	0	0
OR10H3	26532	broad.mit.edu	37	19	15853149	15853149	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:15853149C>G	ENST00000305892.1	+	1	947	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCTCTAAGCTCCTAATGGCCA	0.408000													4	32					0	0	0.150653	0	0
PIGG	54872	broad.mit.edu	37	4	499636	499636	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:499636G>A	ENST00000453061.2	+	3	596	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	PIGG_ENST00000509768.1_Missense_Mutation_p.E75K|PIGG_ENST00000503111.1_Missense_Mutation_p.E75K|PIGG_ENST00000296306.7_Missense_Mutation_p.E75K|PIGG_ENST00000536264.1_Missense_Mutation_p.E42K|PIGG_ENST00000504346.1_Missense_Mutation_p.E75K|PIGG_ENST00000310340.5_Missense_Mutation_p.E164K|PIGG_ENST00000383028.4_Intron	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	164					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTATGGAGATGAAACCTGGGT	0.383000													7	54					0	0	0.278610	0	0
DNAJC7	7266	broad.mit.edu	37	17	40169363	40169363	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:40169363C>T	ENST00000457167.4	-	1	308	c.72G>A	c.(70-72)gcG>gcA	p.A24A	NKIRAS2_ENST00000307641.5_5'UTR|DNAJC7_ENST00000316603.7_5'UTR	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	24					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GTTACCTCTTCGCCTCTTGGT	0.652000													38	261					0	0	0.870114	0	0
PLEC	5339	broad.mit.edu	37	8	145007080	145007080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145007080C>T	ENST00000322810.4	-	14	2198	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	PLEC_ENST00000354589.3_Missense_Mutation_p.D540N|PLEC_ENST00000345136.3_Missense_Mutation_p.D540N|PLEC_ENST00000398774.2_Missense_Mutation_p.D508N|PLEC_ENST00000436759.2_Missense_Mutation_p.D567N|PLEC_ENST00000354958.2_Missense_Mutation_p.D518N|PLEC_ENST00000527096.1_Missense_Mutation_p.D563N|PLEC_ENST00000357649.2_Missense_Mutation_p.D544N|PLEC_ENST00000356346.3_Missense_Mutation_p.D526N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	677	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCAGCGCCATCCACACGGTGC	0.662000													6	81					0	0	0.335167	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27856100	27856100	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:27856100C>G	ENST00000396319.2	+	14	1985	c.1897C>G	c.(1897-1899)Ctg>Gtg	p.L633V	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.L657V|TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000433216.2_Intron	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	633					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ACAACCAGTTCTGCAATATGG	0.363000													20	91					0	0	0.654019	0	0
EPHB1	2047	broad.mit.edu	37	3	134873013	134873013	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:134873013C>G	ENST00000398015.3	+	6	1687	c.1317C>G	c.(1315-1317)atC>atG	p.I439M	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	439	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCGTTCCCATCATGCACCAAG	0.537000													34	278					0	0	0.840704	0	0
DENR	8562	broad.mit.edu	37	12	123253411	123253411	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:123253411C>T	ENST00000280557.6	+	7	681	c.495C>T	c.(493-495)atC>atT	p.I165I	DENR_ENST00000455982.2_Intron	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein	165	SUI1.						protein binding|translation initiation factor activity			kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		ATGAAATTATCATTCAGGGAG	0.343000													3	15					0	0	0.150653	0	0
KCNMA1	3778	broad.mit.edu	37	10	78708987	78708987	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:78708987G>C	ENST00000286627.5	-	21	3400	c.2448C>G	c.(2446-2448)ctC>ctG	p.L816L	RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372443.1_Silent_p.L816L|RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000608791.1_RNA|KCNMA1_ENST00000404771.3_Silent_p.L874L|KCNMA1_ENST00000286628.8_Silent_p.L874L|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Silent_p.L877L|KCNMA1_ENST00000406533.3_Silent_p.L878L|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372440.1_Silent_p.L816L|KCNMA1_ENST00000404857.1_Silent_p.L857L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	874					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CAATGTGCTTGAGCTCATGGT	0.527000													31	95					0	0	0.796494	0	0
SYT9	143425	broad.mit.edu	37	11	7334658	7334658	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:7334658C>T	ENST00000318881.6	+	3	767	c.530C>T	c.(529-531)tCa>tTa	p.S177L	SYT9_ENST00000396716.2_Missense_Mutation_p.S145L	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	177						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTCAACTTGTCAAACCCGGAC	0.378000													3	33					0	0	0.184627	0	0
TLE2	7089	broad.mit.edu	37	19	3017853	3017853	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:3017853C>T	ENST00000262953.6	-	8	817	c.555G>A	c.(553-555)gaG>gaA	p.E185E	TLE2_ENST00000590536.1_Silent_p.E186E|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000591529.1_Silent_p.E199E|TLE2_ENST00000443826.3_Intron|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000455444.2_Intron|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Silent_p.E199E	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	185	Gly/Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGGCTCTCTCCACTGACA	0.522000													6	48					0	0	0.248553	0	0
SMC5	23137	broad.mit.edu	37	9	72930435	72930435	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:72930435C>G	ENST00000361138.5	+	13	1805	c.1747C>G	c.(1747-1749)Cag>Gag	p.Q583E		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	583	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CCTTTGCTGTCAGTATCATAT	0.343000													4	27					0	0	0.184627	0	0
USH2A	7399	broad.mit.edu	37	1	215916588	215916588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:215916588G>A	ENST00000366943.2	-	59	11865	c.11479C>T	c.(11479-11481)Caa>Taa	p.Q3827*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q3827*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3827	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGGTGGATTGATGATGACCA	0.438000										HNSCC(13;0.011)			34	113					0	0	0.859065	0	0
MAS1L	116511	broad.mit.edu	37	6	29454596	29454596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:29454596G>A	ENST00000377127.3	-	1	1142	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	362						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCACATGCTGAGTAGAGTGT	0.517000													16	100					0	0	0.608945	0	0
PDE4A	5141	broad.mit.edu	37	19	10577959	10577959	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:10577959G>A	ENST00000380702.2	+	16	2257	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	PDE4A_ENST00000293683.5_Missense_Mutation_p.E749K|PDE4A_ENST00000344979.3_Missense_Mutation_p.E536K|PDE4A_ENST00000592685.1_Missense_Mutation_p.E753K|PDE4A_ENST00000440014.2_Missense_Mutation_p.E714K|PDE4A_ENST00000352831.6_Missense_Mutation_p.E775K			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	775					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GGCCGAGCTGGAGGCAGTGTA	0.592000													19	164					0	0	0.575678	0	0
APOL2	23780	broad.mit.edu	37	22	36624084	36624084	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36624084G>A	ENST00000249066.6	-	6	856	c.380C>T	c.(379-381)tCt>tTt	p.S127F	APOL2_ENST00000358502.5_Missense_Mutation_p.S127F|APOL2_ENST00000451256.2_Missense_Mutation_p.S239F	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	127					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	p.S127C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CAGGATGCCAGAGGTAGTGCC	0.572000													14	57					0	0	0.520397	0	0
XRRA1	143570	broad.mit.edu	37	11	74651851	74651851	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:74651851G>A	ENST00000340360.6	-	3	404	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	XRRA1_ENST00000533598.1_Intron|XRRA1_ENST00000527087.1_Silent_p.L25L|XRRA1_ENST00000321448.8_Intron	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	25					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						ACGCGAAGCAGATTTCTGGCT	0.498000													4	14					0	0	0.217242	0	0
PARP1	142	broad.mit.edu	37	1	226567866	226567866	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:226567866C>G	ENST00000366794.5	-	10	1444		c.e10-1			NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1						cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCCACCTCCTCTGTTCAAATT	0.388000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					3	26					0	0	0.150653	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405994	105405994	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:105405994G>A	ENST00000333244.5	-	7	15913	c.15794C>T	c.(15793-15795)tCc>tTc	p.S5265F	AHNAK2_ENST00000557457.1_Missense_Mutation_p.S263F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5265						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)			AATATCTGTGGATGATTTGCT	0.512000													18	114					0	0	0.575678	0	0
KRT15	3866	broad.mit.edu	37	17	39671773	39671773	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:39671773C>T	ENST00000254043.3	-	6	4783	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	KRT15_ENST00000393976.2_Missense_Mutation_p.E400K|KRT15_ENST00000393981.3_Missense_Mutation_p.E235K|KRT15_ENST00000393974.3_Missense_Mutation_p.E235K	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	400	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ATCTCCTGCTCCAGCCGTGTC	0.602000													15	158					0	0	0.575678	0	0
ATP13A3	79572	broad.mit.edu	37	3	194146180	194146180	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:194146180T>C	ENST00000439040.1	-	30	3995	c.3204A>G	c.(3202-3204)atA>atG	p.I1068M	ATP13A3_ENST00000256031.4_Missense_Mutation_p.I1068M			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1068					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CATAATTTTGTATATTATGTT	0.358000													6	35					0	0	0.278610	0	0
ABCA13	154664	broad.mit.edu	37	7	48311969	48311969	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:48311969C>G	ENST00000435803.1	+	17	2730	c.2706C>G	c.(2704-2706)ctC>ctG	p.L902L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	902					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAACTAGTCTCCATGAATTTG	0.393000													10	33					0	0	0.361761	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056380	26056380	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26056380G>A	ENST00000343677.2	-	1	319	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	93	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GTTTGCACCAGAGTGCCCTTG	0.547000													11	105					0	0	0.387290	0	0
FCHO1	23149	broad.mit.edu	37	19	17883460	17883460	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:17883460G>A	ENST00000594202.1	+	11	979	c.700G>A	c.(700-702)Gag>Aag	p.E234K	FCHO1_ENST00000252771.7_Missense_Mutation_p.E234K|FCHO1_ENST00000596951.1_Missense_Mutation_p.E234K|FCHO1_ENST00000600676.1_Missense_Mutation_p.E234K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E234K|FCHO1_ENST00000595033.1_Missense_Mutation_p.E184K|FCHO1_ENST00000597512.1_Missense_Mutation_p.E241K|FCHO1_ENST00000596536.1_Missense_Mutation_p.E234K|FCHO1_ENST00000539407.1_Missense_Mutation_p.E234K	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	234										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ACAGGTGCATGAGGAATTTAA	0.587000													18	115					0	0	0.608945	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249106422	249106422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:249106422G>A	ENST00000366472.5	-	7	2088	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R255W|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	287										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GAGGAGCGCCGAGGGCCCAGG	0.721000													5	39					0	0	0.278610	0	0
ZC3H18	124245	broad.mit.edu	37	16	88690429	88690429	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:88690429C>T	ENST00000301011.5	+	11	2057	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	ZC3H18_ENST00000452588.2_Silent_p.I643I	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	619	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GACCTTCCATCAGAACCAAGG	0.672000													23	155					0	0	0.740014	0	0
SBSPON	157869	broad.mit.edu	37	8	73979650	73979650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:73979650G>C	ENST00000297354.6	-	5	925	c.721C>G	c.(721-723)Caa>Gaa	p.Q241E	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	241					immune response	extracellular region	polysaccharide binding|scavenger receptor activity										CAAGTTCCTTGACACCGAGGA	0.373000													6	80					0	0	0.307466	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61303163	61303163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:61303163C>T	ENST00000217159.1	+	12	2292	c.2087C>T	c.(2086-2088)tCa>tTa	p.S696L	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.S696L	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	696					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TCGGAGTCTTCAGATGGCCTG	0.632000													17	118					0	0	0.520397	0	0
AMPD3	272	broad.mit.edu	37	11	10500089	10500089	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:10500089A>G	ENST00000396554.3	+	3	606	c.265A>G	c.(265-267)Atg>Gtg	p.M89V	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	80					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAGTTTCAAGATGATTCGGTC	0.532000													88	232					0	0	0.870114	0	0
PLA2R1	22925	broad.mit.edu	37	2	160889477	160889477	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160889477G>C	ENST00000283243.7	-	4	1040	c.834C>G	c.(832-834)ttC>ttG	p.F278L	PLA2R1_ENST00000392771.1_Missense_Mutation_p.F278L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	278	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TACCCCTTATGAAATTTTCTT	0.358000													18	123					0	0	0.681144	0	0
PANX1	24145	broad.mit.edu	37	11	93912933	93912933	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:93912933C>T	ENST00000227638.3	+	4	1096	c.711C>T	c.(709-711)ctC>ctT	p.L237L	PANX1_ENST00000436171.2_Silent_p.L237L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	237					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTTCAGCCTCTCCTCACTCT	0.453000													12	49					0	0	0.387290	0	0
EIF3K	27335	broad.mit.edu	37	19	39114742	39114742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39114742C>T	ENST00000545173.2	+	3	260	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	EIF3K_ENST00000248342.4_Nonsense_Mutation_p.Q62*|EIF3K_ENST00000593149.1_5'UTR|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000592558.1_Nonsense_Mutation_p.Q62*|EIF3K_ENST00000538434.1_5'UTR|EIF3K_ENST00000588934.1_Nonsense_Mutation_p.Q62*			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	62					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	p.Q62E(1)	EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCCTTCTTTCAGACCACGGT	0.562000													10	115					0	0	0.435327	0	0
COG4	25839	broad.mit.edu	37	16	70551628	70551628	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:70551628C>T	ENST00000323786.5	-	3	291	c.270G>A	c.(268-270)ctG>ctA	p.L90L	COG4_ENST00000564653.1_Silent_p.L90L|COG4_ENST00000393612.4_Silent_p.L86L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	86	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTCCCTCAATCAGCTGCAGAT	0.453000													20	112					0	0	0.667858	0	0
SNX18	112574	broad.mit.edu	37	5	53813855	53813855	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:53813855G>A	ENST00000343017.6	+	1	267	c.73G>A	c.(73-75)Gag>Aag	p.E25K	SNX18_ENST00000381410.4_Missense_Mutation_p.E25K|SNX18_ENST00000326277.3_Missense_Mutation_p.E25K	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	25	SH3.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCGAGAGCACGAGGTGCTGAG	0.706000													3	14					0	0	0.115264	0	0
OR6C3	254786	broad.mit.edu	37	12	55726281	55726281	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:55726281C>T	ENST00000379667.1	+	1	797	c.797C>T	c.(796-798)tCa>tTa	p.S266L		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GAAAAGGCATCATTGACAAAA	0.383000													4	34					0	0	0.150653	0	0
NCOR1	9611	broad.mit.edu	37	17	16049769	16049769	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:16049769C>G	ENST00000268712.3	-	10	1260	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q	NCOR1_ENST00000395851.1_Missense_Mutation_p.E335Q|NCOR1_ENST00000395848.1_Missense_Mutation_p.E226Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	335	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTTTGCTTTCTTTAGCTTTC	0.368000													8	48					0	0	0.361761	0	0
CLRN1	7401	broad.mit.edu	37	3	150659542	150659542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:150659542G>A	ENST00000327047.1	-	2	550	c.260C>T	c.(259-261)cCa>cTa	p.P87L	CLRN1_ENST00000295911.2_Missense_Mutation_p.P11L|CLRN1_ENST00000328863.4_Missense_Mutation_p.P87L|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	87					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGCAAATCTGGAAAAACTGA	0.368000													3	21					0	0	0.150653	0	0
GLI1	2735	broad.mit.edu	37	12	57865639	57865639	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57865639C>T	ENST00000228682.2	+	12	3207	c.3116C>T	c.(3115-3117)tCt>tTt	p.S1039F	GLI1_ENST00000546141.1_Missense_Mutation_p.S998F|GLI1_ENST00000543426.1_Missense_Mutation_p.S911F	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1039	Asp/Glu-rich (acidic).				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCCTGGACTCTCTTGATCTT	0.592000													42	251					0	0	0.870114	0	0
NFATC2	4773	broad.mit.edu	37	20	50051746	50051746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:50051746G>A	ENST00000371564.3	-	8	2230	c.2011C>T	c.(2011-2013)Cag>Tag	p.Q671*	NFATC2_ENST00000610033.1_Nonsense_Mutation_p.Q452*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.Q651*|NFATC2_ENST00000609943.1_Nonsense_Mutation_p.Q651*|NFATC2_ENST00000396009.3_Nonsense_Mutation_p.Q671*|NFATC2_ENST00000609507.1_Nonsense_Mutation_p.Q452*	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	671					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTAAAGTGCTGAGGCTGACTT	0.478000													18	175					0	0	0.681144	0	0
CEP68	23177	broad.mit.edu	37	2	65296855	65296855	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:65296855G>A	ENST00000377990.2	+	2	480	c.277G>A	c.(277-279)Gag>Aag	p.E93K	CEP68_ENST00000537589.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.E93K|CEP68_ENST00000546106.1_Missense_Mutation_p.E93K	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	93					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCCCGTAGCTGAGAGGTCTGA	0.617000													9	80					0	0	0.361761	0	0
SAP30BP	29115	broad.mit.edu	37	17	73663485	73663485	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73663485C>G	ENST00000584667.1	+	1	290	c.33C>G	c.(31-33)ctC>ctG	p.L11L	SAP30BP_ENST00000355423.3_Silent_p.L11L|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	11					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCGTCTCTCGCAGTTTACG	0.607000													12	73					0	0	0.539581	0	0
BUB1	699	broad.mit.edu	37	2	111419343	111419343	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:111419343G>C	ENST00000535254.1	-	9	1040	c.973C>G	c.(973-975)Cag>Gag	p.Q325E	BUB1_ENST00000302759.6_Missense_Mutation_p.Q345E|BUB1_ENST00000409311.1_Missense_Mutation_p.Q345E	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	345					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGTGTCTGCTGATAGGTTACT	0.488000													7	95					0	0	0.335167	0	0
S100Z	170591	broad.mit.edu	37	5	76171199	76171199	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:76171199C>T	ENST00000317593.4	+	3	247	c.15C>T	c.(13-15)ctC>ctT	p.L5L	S100Z_ENST00000513010.1_Silent_p.L5L	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	5							calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		CCACCCAGCTCGAGATGGCCA	0.522000													5	27					0	0	0.217242	0	0
DYRK3	8444	broad.mit.edu	37	1	206821905	206821905	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206821905G>A	ENST00000367106.1	+	4	1775	c.1302G>A	c.(1300-1302)gtG>gtA	p.V434V	DYRK3_ENST00000367109.2_Silent_p.V454V|DYRK3_ENST00000367108.3_Silent_p.V434V|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	454	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ACTGCTCTGTGACTACCCAGG	0.552000													35	372					0	0	0.859065	0	0
TRERF1	55809	broad.mit.edu	37	6	42236470	42236470	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:42236470C>G	ENST00000541110.1	-	5	1427	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	TRERF1_ENST00000354325.2_Missense_Mutation_p.E287Q|TRERF1_ENST00000340840.2_Missense_Mutation_p.E287Q|TRERF1_ENST00000372922.4_Missense_Mutation_p.E287Q|TRERF1_ENST00000372917.4_Missense_Mutation_p.E287Q			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	287	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCTGTATTTCTTGCATGGAG	0.597000													32	223					0	0	0.834066	0	0
SSRP1	6749	broad.mit.edu	37	11	57100260	57100260	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:57100260G>A	ENST00000278412.2	-	6	873	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	203					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGCAGCTCCCGGAAGATGCAG	0.527000													5	71					0	0	0.248553	0	0
SOX12	6666	broad.mit.edu	37	20	306825	306825	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:306825A>T	ENST00000342665.2	+	1	587	c.257A>T	c.(256-258)aAg>aTg	p.K86M	RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.K86M	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	86					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACTCGGAGAAGATCCCGTTC	0.662000													4	37					0	0	0.217242	0	0
BDP1	55814	broad.mit.edu	37	5	70860685	70860685	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:70860685C>G	ENST00000358731.4	+	39	8111	c.7848C>G	c.(7846-7848)atC>atG	p.I2616M	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2616					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCAATGATATCTTCATTGAAG	0.368000													8	73					0	0	0.278610	0	0
KLRAP1	10748	broad.mit.edu	37	12	10750704	10750704	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:10750704G>A	ENST00000510134.2	-	0	252																				breast(1)|large_intestine(1)|lung(1)	3						CTGTGACTCTGAAGGAGACTG	0.373000													5	58					0	0	0.217242	0	0
ACAP2	23527	broad.mit.edu	37	3	195053852	195053852	+	Splice_Site	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:195053852T>A	ENST00000326793.6	-	8	804	c.574A>T	c.(574-576)Atg>Ttg	p.M192L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	192	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AATGACAACATCTAATAGGGA	0.318000													12	57					0	0	0.435327	0	0
GPR52	9293	broad.mit.edu	37	1	174417291	174417291	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:174417291G>T	ENST00000367685.2	+	1	80	c.42G>T	c.(40-42)atG>atT	p.M14I	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	14						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TCCTGAACATGAGCAGTGGCA	0.507000													12	91					2.61681e-11	2.77772e-11	0.457914	1	0
TAF1B	9014	broad.mit.edu	37	2	10045054	10045054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:10045054C>T	ENST00000263663.5	+	9	1062	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	TAF1B_ENST00000396242.3_Missense_Mutation_p.R37C	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	292			R -> H (in dbSNP:rs16867223).		termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGATTTGCCTCGTTTTCCAGA	0.378000													6	53					0	0	0.217242	0	0
SUMO2	6613	broad.mit.edu	37	17	73164461	73164461	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73164461G>C	ENST00000420826.2	-	4	409	c.261C>G	c.(259-261)ttC>ttG	p.F87L	SUMO2_ENST00000314523.7_Missense_Mutation_p.F63L|SUMO2_ENST00000578238.1_Missense_Mutation_p.F44L	NM_006937.3	NP_008868.3	P61956	SUMO2_HUMAN	small ubiquitin-like modifier 2	87	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					TCTGCTGTTGGAACACATCAA	0.353000													2	11					0	0	0.150653	0	0
CHKB-CPT1B	386593	broad.mit.edu	37	22	51017894	51017894	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:51017894G>T	ENST00000453634.1	-	2	68	c.69C>A	c.(67-69)atC>atA	p.I23I	CHKB-CPT1B_ENST00000452668.1_Intron|CPT1B_ENST00000434492.2_5'UTR|CHKB_ENST00000406938.2_Silent_p.I358I																							ATGCCTGGAGGATGGACCACA	0.562000													6	45					7.48243e-07	7.80982e-07	0.335167	1	0
KDR	3791	broad.mit.edu	37	4	55968637	55968637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:55968637G>A	ENST00000263923.4	-	14	2321	c.2026C>T	c.(2026-2028)Cag>Tag	p.Q676*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	676	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGTCGTCTGATTCTCCAGG	0.438000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			4	15					0	0	0.184627	0	0
USPL1	10208	broad.mit.edu	37	13	31233420	31233420	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:31233420C>T	ENST00000255304.4	+	9	3548	c.3206C>T	c.(3205-3207)tCa>tTa	p.S1069L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1069					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTTTCCTCCTCAGCATTAAAT	0.343000													5	39					0	0	0.184627	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860615	27860615	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:27860615G>A	ENST00000359611.2	-	1	348	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	HIST1H3J_ENST00000479986.1_5'UTR	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	105					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						ACACCGCCCTGAGCGATGGTA	0.542000													35	209					0	0	0.804634	0	0
SNX15	29907	broad.mit.edu	37	11	64795031	64795031	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64795031G>A	ENST00000377244.3	+	1	152	c.22G>A	c.(22-24)Gac>Aac	p.D8N	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Missense_Mutation_p.D8N	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	8	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GGCGAAGGATGACTTCCTGCG	0.692000											OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	236					0	0	0.827153	0	0
CUX2	23316	broad.mit.edu	37	12	111758298	111758298	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:111758298G>A	ENST00000261726.6	+	17	2639	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	829						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCGCGGGGACGAGGCCCCTGT	0.771000													4	19					0	0	0.184627	0	0
RAB40C	57799	broad.mit.edu	37	16	676021	676021	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:676021C>T	ENST00000535977.1	+	6	687	c.465C>T	c.(463-465)gtC>gtT	p.V155V	RAB40C_ENST00000248139.3_Silent_p.V155V|RAB40C_ENST00000539661.1_Silent_p.V155V|RAB40C_ENST00000538492.1_Silent_p.V155V	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	155					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCTTTGAGGTCAGCCCCCTGT	0.607000													21	142					0	0	0.654019	0	0
USP29	57663	broad.mit.edu	37	19	57641253	57641253	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57641253G>A	ENST00000254181.4	+	4	1664	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	USP29_ENST00000598197.1_Missense_Mutation_p.E404K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	404					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTGGGGATGAAAATTCATC	0.393000													6	63					0	0	0.217242	0	0
RPS18	6222	broad.mit.edu	37	6	33244179	33244179	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:33244179G>A	ENST00000439602.2	+	6	505	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_Missense_Mutation_p.R62Q			P62269	RS18_HUMAN	ribosomal protein S18	132					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CTTCGTGTCCGAGGCCAGCAC	0.493000													5	33					0	0	0.248553	0	0
MYH9	4627	broad.mit.edu	37	22	36698620	36698620	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36698620G>A	ENST00000216181.5	-	20	2723	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	831					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCACCTTGGTGAAGAGCCGCC	0.562000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				23	127					0	0	0.750413	0	0
PPP1R32	220004	broad.mit.edu	37	11	61252187	61252187	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61252187G>C	ENST00000338608.2	+	5	534	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	RP11-286N22.8_ENST00000544880.1_3'UTR|PPP1R32_ENST00000432063.2_Missense_Mutation_p.E137Q	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	137																	CGACACCCAGGAGCACGGGCC	0.642000													5	30					0	0	0.307466	0	0
GRPEL1	80273	broad.mit.edu	37	4	7062677	7062677	+	Missense_Mutation	SNP	C	C	T	rs144832422	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:7062677C>T	ENST00000264954.4	-	4	730	c.566G>A	c.(565-567)gGc>gAc	p.G189D		NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	189					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGCCACTGTGCCTGGCTCCTT	0.567000													43	255					0	0	0.859065	0	0
CPA2	1358	broad.mit.edu	37	7	129912983	129912983	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:129912983C>T	ENST00000222481.4	+	5	507	c.452C>T	c.(451-453)tCt>tTt	p.S151F		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	151					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AATATTGGCTCTTCTTTTGAG	0.473000													7	53					0	0	0.307466	0	0
ADCY5	111	broad.mit.edu	37	3	123014973	123014973	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:123014973C>T	ENST00000462833.1	-	17	4233	c.3021G>A	c.(3019-3021)caG>caA	p.Q1007Q	ADCY5_ENST00000309879.5_Silent_p.Q657Q|ADCY5_ENST00000491190.1_Silent_p.Q665Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1007					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGGACTCCACCTGCTGGGCGT	0.632000													19	126					0	0	0.639603	0	0
MOB1A	55233	broad.mit.edu	37	2	74399752	74399752	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:74399752G>A	ENST00000396049.4	-	2	335	c.142C>T	c.(142-144)Cct>Tct	p.P48S	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.P48S	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN	MOB kinase activator 1A						hippo signaling cascade		metal ion binding|protein binding										TCTCCCTCAGGCAACATAACA	0.373000													7	99					0	0	0.335167	0	0
P4HB	5034	broad.mit.edu	37	17	79817199	79817199	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:79817199C>T	ENST00000331483.4	-	2	432	c.210G>A	c.(208-210)ctG>ctA	p.L70L	P4HB_ENST00000439918.2_Silent_p.L70L|P4HB_ENST00000576390.1_Silent_p.L70L	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	70	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CTTCTGCCTTCAGCTTCCCAG	0.602000													23	160					0	0	0.681144	0	0
RC3H2	54542	broad.mit.edu	37	9	125643058	125643058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:125643058C>A	ENST00000373670.1	-	5	1375	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	RC3H2_ENST00000335387.5_Nonsense_Mutation_p.E259*|RC3H2_ENST00000357244.2_Nonsense_Mutation_p.E259*|RC3H2_ENST00000373665.2_Nonsense_Mutation_p.E259*|RC3H2_ENST00000423239.2_Nonsense_Mutation_p.E259*			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	259						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAAGAGTCTTCATCTCTTTTG	0.403000													3	15					0.00909568	0.00924363	0.150653	1	0
COL8A2	1296	broad.mit.edu	37	1	36564482	36564482	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:36564482C>A	ENST00000397799.1	-	4	1024	c.800G>T	c.(799-801)gGa>gTa	p.G267V	COL8A2_ENST00000303143.4_Missense_Mutation_p.G267V|COL8A2_ENST00000481785.1_Missense_Mutation_p.G202V			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	267	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCACAGCTCCTGGCTCCCC	0.662000													6	27					0.248553	0.249503	0.248553	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658255	72658255	+	RNA	SNP	A	A	G	rs2539089		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:72658255A>G	ENST00000425256.1	-	0	1656																											tcagttttgtaacaagcccgt	0.488000													4	53					0	0	0.184627	0	0
EIF4G2	1982	broad.mit.edu	37	11	10823911	10823911	+	Silent	SNP	G	G	A	rs142114099		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:10823911G>A	ENST00000526148.1	-	12	1578	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	EIF4G2_ENST00000339995.5_Silent_p.F356F|EIF4G2_ENST00000525681.1_Silent_p.F356F|EIF4G2_ENST00000396525.2_Silent_p.F356F	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	356					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGGTGGCATGAACGGTCCCT	0.428000													21	130					0	0	0.639603	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510690	110510690	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:110510690G>C	ENST00000378402.5	+	66	10703		c.e66-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTCCAAACAGAGCTCATTAA	0.423000										HNSCC(38;0.096)			11	39					0	0	0.361761	0	0
EGLN3	112399	broad.mit.edu	37	14	34419589	34419589	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:34419589G>C	ENST00000547327.2	-	1	698	c.370C>G	c.(370-372)Cgg>Ggg	p.R124G	EGLN3_ENST00000553215.1_Intron|EGLN3_ENST00000250457.3_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	124	Fe2OG dioxygenase.				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GCAGGGCGCCGAGCGCGTCCT	0.607000													9	81					0	0	0.411799	0	0
GATA1	2623	broad.mit.edu	37	X	48650377	48650377	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650377C>G	ENST00000376670.3	+	3	458	c.347C>G	c.(346-348)tCt>tGt	p.S116C	GATA1_ENST00000376665.3_Missense_Mutation_p.S116C	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	116					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CGCGAGGACTCTCCTCCCCAG	0.627000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								16	49					0	0	0.575678	0	0
SCFD1	23256	broad.mit.edu	37	14	31177222	31177222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:31177222G>C	ENST00000458591.2	+	19	1807	c.1580G>C	c.(1579-1581)gGa>gCa	p.G527A	SCFD1_ENST00000544052.2_Missense_Mutation_p.G460A|SCFD1_ENST00000541123.1_Missense_Mutation_p.G342A|SCFD1_ENST00000396629.2_Missense_Mutation_p.G435A|SCFD1_ENST00000421551.3_Missense_Mutation_p.G468A	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	527					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATGAATACAGGATCACAGTTT	0.358000													9	57					0	0	0.387290	0	0
XKR8	55113	broad.mit.edu	37	1	28290051	28290051	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:28290051G>C	ENST00000373884.5	+	2	945	c.337G>C	c.(337-339)Gag>Cag	p.E113Q		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	113						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GTGGCAGCAGGAGGAGCCCTC	0.612000													15	103					0	0	0.520397	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217300156	217300156	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:217300156C>T	ENST00000357276.4	+	9	1911	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	SMARCAL1_ENST00000358207.5_Silent_p.V527V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	527	Helicase ATP-binding.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCAACATTGTCAGCTTTGACC	0.463000									Schimke Immuno-Osseous Dysplasia				6	60					0	0	0.248553	0	0
ZNF792	126375	broad.mit.edu	37	19	35449696	35449696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:35449696G>A	ENST00000404801.1	-	4	1449	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	ZNF792_ENST00000605484.1_Nonsense_Mutation_p.Q288*	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCTTATGCTGAATGAGGTTG	0.507000													12	48					0	0	0.435327	0	0
PPL	5493	broad.mit.edu	37	16	4939015	4939015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4939015G>C	ENST00000345988.2	-	19	2450	c.2361C>G	c.(2359-2361)atC>atG	p.I787M	PPL_ENST00000590782.2_Missense_Mutation_p.I785M	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	787					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AATTGGCACAGATCTTCTGTA	0.448000													55	485					0	0	0.870114	0	0
PHF20L1	51105	broad.mit.edu	37	8	133848934	133848934	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:133848934G>C	ENST00000395386.2	+	16	2358	c.2059G>C	c.(2059-2061)Gag>Cag	p.E687Q	PHF20L1_ENST00000395390.2_Missense_Mutation_p.E662Q|PHF20L1_ENST00000220847.7_Missense_Mutation_p.E74Q	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	687							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATGTATTTGTGAGATGGATGA	0.408000													6	54					0	0	0.307466	0	0
TTN	7273	broad.mit.edu	37	2	179489391	179489391	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:179489391C>T	ENST00000589042.1	-	242	44840	c.44616G>A	c.(44614-44616)ctG>ctA	p.L14872L	TTN_ENST00000359218.5_Silent_p.L5932L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.L5807L|TTN_ENST00000342175.6_Silent_p.L5999L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.L12304L|TTN_ENST00000591111.1_Silent_p.L13231L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13231	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCACACTCCAGCACTGCAG	0.458000													3	13					0	0	0.115264	0	0
SYT5	6861	broad.mit.edu	37	19	55686641	55686641	+	Missense_Mutation	SNP	G	G	A	rs141073446		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55686641G>A	ENST00000354308.3	-	6	976	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SYT5_ENST00000537500.1_Missense_Mutation_p.R203C|SYT5_ENST00000590851.1_Missense_Mutation_p.R200C|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	203	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCGTCATTGCGAGAGAAGCGG	0.677000													3	41					0	0	0.184627	0	0
EEF1D	1936	broad.mit.edu	37	8	144668986	144668986	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144668986C>T	ENST00000532741.1	-	2	1506	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K	EEF1D_ENST00000524624.1_Silent_p.K10K|EEF1D_ENST00000317198.6_Silent_p.K10K|EEF1D_ENST00000423316.2_Silent_p.K376K|EEF1D_ENST00000529272.1_Silent_p.K10K|EEF1D_ENST00000442189.2_Silent_p.K376K|EEF1D_ENST00000532400.1_Silent_p.K10K|EEF1D_ENST00000531621.1_Silent_p.K10K|EEF1D_ENST00000395119.3_Silent_p.K10K|EEF1D_ENST00000419152.2_Silent_p.K10K|EEF1D_ENST00000528610.1_Silent_p.K10K|EEF1D_ENST00000526838.1_Silent_p.K10K			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	10					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGAACCAGATCTTCTCATGTG	0.547000													13	251					0	0	0.520397	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32502561	32502561	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:32502561G>C	ENST00000327300.7	+	5	989	c.822G>C	c.(820-822)ttG>ttC	p.L274F	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.L235F|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	274					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTCCTACTTGAATGGAGTAC	0.493000													22	150					0	0	0.654019	0	0
LRRK1	79705	broad.mit.edu	37	15	101566280	101566280	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:101566280C>G	ENST00000284395.5	+	18	2734	c.2334C>G	c.(2332-2334)ctC>ctG	p.L778L	LRRK1_ENST00000388948.3_Silent_p.L781L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	781	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCTGGCACTCTGCCGCTCCC	0.597000													25	129					0	0	0.740014	0	0
LOC154761	154761	broad.mit.edu	37	7	143510136	143510136	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:143510136G>A	ENST00000494978.1	-	0	1442					NR_015421.1																						CACCAATGCTGGATGGACAGG	0.597000													11	98					0	0	0.575678	0	0
WBP11	51729	broad.mit.edu	37	12	14946788	14946788	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:14946788G>C	ENST00000261167.2	-	8	1023	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	264	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGCTTATCTTGATCCATGTCC	0.463000													15	136					0	0	0.520397	0	0
IFIT2	3433	broad.mit.edu	37	10	91066371	91066371	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:91066371C>T	ENST00000371826.3	+	2	827	c.658C>T	c.(658-660)Cat>Tat	p.H220Y	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	220					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TCTGAAGCTTCATAAGATGCG	0.502000													4	39					0	0	0.248553	0	0
DLG2	1740	broad.mit.edu	37	11	83195224	83195224	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:83195224G>A	ENST00000398309.2	-	17	2396	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	DLG2_ENST00000426717.2_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000531015.1_Silent_p.F609F|DLG2_ENST00000376104.2_Silent_p.F747F|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000280241.8_Silent_p.F681F|DLG2_ENST00000543673.1_Silent_p.F747F|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000537455.1_Intron	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	642						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTAGAATGGGAATTTTCGTG	0.398000													4	33					0	0	0.307466	0	0
DDX3X	1654	broad.mit.edu	37	X	41202027	41202027	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:41202027G>C	ENST00000399959.2	+	6	1336	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Missense_Mutation_p.E205Q|DDX3X_ENST00000457138.2_Missense_Mutation_p.E145Q|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	161					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GATTAATTTTGAGAAATACGA	0.373000										HNSCC(61;0.18)			14	55					0	0	0.575678	0	0
LRCH1	23143	broad.mit.edu	37	13	47263293	47263293	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:47263293G>A	ENST00000311191.6	+	7	1205	c.976G>A	c.(976-978)Gga>Aga	p.G326R	LRCH1_ENST00000389798.3_Missense_Mutation_p.G326R|LRCH1_ENST00000389797.3_Missense_Mutation_p.G326R	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	326										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCGGGAGTTGGAAGTGATAA	0.353000													32	109					0	0	0.870114	0	0
STAT6	6778	broad.mit.edu	37	12	57501056	57501056	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57501056G>C	ENST00000300134.3	-	4	622	c.297C>G	c.(295-297)ttC>ttG	p.F99L	STAT6_ENST00000454075.3_Missense_Mutation_p.F99L|STAT6_ENST00000556155.1_Missense_Mutation_p.F99L|STAT6_ENST00000538913.2_5'UTR|STAT6_ENST00000543873.2_Missense_Mutation_p.F99L|STAT6_ENST00000537215.2_5'UTR	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	99					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTATTTGTCTGAAAGTGGCCA	0.478000													14	107					0	0	0.520397	0	0
EN1	2019	broad.mit.edu	37	2	119604494	119604494	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:119604494G>C	ENST00000295206.6	-	1	760	c.250C>G	c.(250-252)Cag>Gag	p.Q84E		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	84					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCGAGATGCTGAggcggcggg	0.751000													5	32					0	0	0.278610	0	0
KCNN3	3782	broad.mit.edu	37	1	154842073	154842073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154842073G>A	ENST00000271915.4	-	1	683	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TTGCCTGGAGGAAGGGTGGAG	0.642000													9	99					0	0	0.387290	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438337	25438337	+	RNA	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:25438337C>T	ENST00000424208.1	+	0	1196				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CAGCATCCATCAGCTAGGTGC	0.582000													7	13					0	0	0.248553	0	0
DZIP1L	199221	broad.mit.edu	37	3	137790534	137790534	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:137790534C>T	ENST00000327532.2	-	12	1928	c.1566G>A	c.(1564-1566)gaG>gaA	p.E522E	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Silent_p.E522E	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	522						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCTCCTGTCTCTCCTTCGCTC	0.582000													12	96					0	0	0.479597	0	0
ZNF564	163050	broad.mit.edu	37	19	12639430	12639430	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12639430G>C	ENST00000339282.7	-	2	280	c.84C>G	c.(82-84)ctC>ctG	p.L28L	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CATCTCTGTAGAGTTTCTTCT	0.453000													10	79					0	0	0.387290	0	0
PHF20	51230	broad.mit.edu	37	20	34459608	34459608	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:34459608C>T	ENST00000374012.3	+	9	1268	c.1139C>T	c.(1138-1140)tCa>tTa	p.S380L	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGCCAGGTCTCATCTGCACTG	0.458000													31	209					0	0	0.819951	0	0
FLG2	388698	broad.mit.edu	37	1	152324509	152324509	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152324509C>T	ENST00000388718.5	-	3	5825	c.5753G>A	c.(5752-5754)aGa>aAa	p.R1918K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1918							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTTTGGTGTCTCTTGTGAAC	0.507000													17	199					0	0	0.539581	0	0
HIST1H2AD	3013	broad.mit.edu	37	6	26199108	26199108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26199108C>T	ENST00000341023.1	-	1	363	c.364G>A	c.(364-366)Gag>Aag	p.E122K	HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	122					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				TGGTGACTCTCAGTCTTCTTG	0.488000													11	100					0	0	0.457914	0	0
ACTB	60	broad.mit.edu	37	7	5569265	5569265	+	Silent	SNP	G	G	T	rs151181948		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:5569265G>T	ENST00000331789.5	-	2	215	c.24C>A	c.(22-24)ctC>ctA	p.L8L		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	8					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGTCGACGACGAGCGCGGCGA	0.721000													20	125					1.75199e-13	1.8703e-13	0.717897	1	0
HMCN1	83872	broad.mit.edu	37	1	186037086	186037086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:186037086G>A	ENST00000271588.4	+	50	8055	c.7826G>A	c.(7825-7827)tGg>tAg	p.W2609*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.W2609*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2609	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCATCACCTGGTTTAAGGAT	0.428000													16	62					0	0	0.624587	0	0
NGLY1	55768	broad.mit.edu	37	3	25805781	25805781	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:25805781G>A	ENST00000428257.1	-	3	375	c.268C>T	c.(268-270)Cct>Tct	p.P90S	NGLY1_ENST00000280700.5_Missense_Mutation_p.P90S|NGLY1_ENST00000422724.2_Missense_Mutation_p.P13S|NGLY1_ENST00000396649.3_Missense_Mutation_p.P90S|NGLY1_ENST00000417874.2_Missense_Mutation_p.P48S	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	90	PUB.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GCTTTTTTAGGAAAGATGAGA	0.373000													10	92					0	0	0.387290	0	0
XPOT	11260	broad.mit.edu	37	12	64812872	64812872	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:64812872G>C	ENST00000332707.5	+	6	1016	c.487G>C	c.(487-489)Gag>Cag	p.E163Q		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	163	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GCATACATCAGAGGCAAGTAA	0.393000													11	91					0	0	0.411799	0	0
POU3F1	5453	broad.mit.edu	37	1	38511339	38511339	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:38511339G>C	ENST00000373012.2	-	1	1111	c.1077C>G	c.(1075-1077)ctC>ctG	p.L359L		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	359					positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGGGCACTTGAGAAAGTGGC	0.662000													8	37					0	0	0.361761	0	0
GON4L	54856	broad.mit.edu	37	1	155774800	155774800	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155774800C>G	ENST00000437809.1	-	11	1707	c.1585G>C	c.(1585-1587)Gat>Cat	p.D529H	GON4L_ENST00000368331.1_Missense_Mutation_p.D529H|GON4L_ENST00000271883.5_Missense_Mutation_p.D529H|GON4L_ENST00000361040.5_Missense_Mutation_p.D529H|GON4L_ENST00000471341.1_5'UTR	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	529	Asp-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTCATCATCTGCCGTATTG	0.463000													23	222					0	0	0.717897	0	0
NHS	4810	broad.mit.edu	37	X	17749980	17749980	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:17749980C>T	ENST00000380060.3	+	8	4627	c.4289C>T	c.(4288-4290)tCc>tTc	p.S1430F	NHS_ENST00000398097.3_Missense_Mutation_p.S1274F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1430						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCTCAAAGATCCAAGAGGAAA	0.453000													37	48					0	0	0.853193	0	0
VCPIP1	80124	broad.mit.edu	37	8	67547599	67547599	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:67547599C>T	ENST00000310421.4	-	3	3064	c.2806G>A	c.(2806-2808)Gat>Aat	p.D936N		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	936					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGCTTGCCATCAGCCATACCT	0.323000													6	36					0	0	0.335167	0	0
FAM160B2	64760	broad.mit.edu	37	8	21958231	21958231	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:21958231G>A	ENST00000289921.7	+	11	1514	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	490										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						ACCAGAGCCTGAGAGCTATGA	0.617000													29	176					0	0	0.779181	0	0
KPNB1	3837	broad.mit.edu	37	17	45748175	45748175	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:45748175G>A	ENST00000290158.4	+	12	1931	c.1524G>A	c.(1522-1524)caG>caA	p.Q508Q	KPNB1_ENST00000540627.1_Silent_p.Q363Q|KPNB1_ENST00000537679.1_Silent_p.Q292Q|KPNB1_ENST00000535458.2_Silent_p.Q363Q	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	508					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TCATAGTTCAGAAGCTCCTAG	0.433000													11	65					0	0	0.435327	0	0
PLEC	5339	broad.mit.edu	37	8	144998327	144998327	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144998327C>T	ENST00000322810.4	-	31	6350	c.6181G>A	c.(6181-6183)Gag>Aag	p.E2061K	PLEC_ENST00000354589.3_Missense_Mutation_p.E1924K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1924K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1892K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1951K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1902K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1947K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1928K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1910K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2061	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTCCTCCTCCACCTGCCGC	0.697000													8	78					0	0	0.335167	0	0
SCUBE2	57758	broad.mit.edu	37	11	9051467	9051467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:9051467C>T	ENST00000457346.2	-	19	2541	c.2467G>A	c.(2467-2469)Gac>Aac	p.D823N	SCUBE2_ENST00000520467.1_Missense_Mutation_p.D766N|SCUBE2_ENST00000309263.3_Missense_Mutation_p.D794N|SCUBE2_ENST00000450649.2_Missense_Mutation_p.D668N|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	794	CUB.					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CCATCAAAGTCAGTCGTAGTA	0.448000													22	156					0	0	0.706142	0	0
SLC20A1	6574	broad.mit.edu	37	2	113417184	113417184	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:113417184C>G	ENST00000272542.3	+	8	1991	c.1452C>G	c.(1450-1452)gtC>gtG	p.V484V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	484					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						ACATGAGTGTCAAGGCAGAGA	0.463000													26	135					0	0	0.760397	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427607	25427607	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:25427607G>A	ENST00000424208.1	+	0	272				SNHG14_ENST00000365306.1_RNA	NR_003305.1																						GGATTACGCTGAGGCCCAGTC	0.527000													29	285					0	0	0.750413	0	0
MCOLN3	55283	broad.mit.edu	37	1	85498382	85498382	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:85498382C>T	ENST00000370587.1	-	7	1105	c.729G>A	c.(727-729)ctG>ctA	p.L243L	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.L187L|MCOLN3_ENST00000370589.2_Silent_p.L243L			Q8TDD5	MCLN3_HUMAN	mucolipin 3	243						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CACTTACAGTCAGAGTAAAGT	0.388000													33	252					0	0	0.870114	0	0
APC	324	broad.mit.edu	37	5	112174757	112174757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:112174757G>T	ENST00000457016.1	+	16	3846	c.3466G>T	c.(3466-3468)Gaa>Taa	p.E1156*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.E1156*|APC_ENST00000508376.2_Nonsense_Mutation_p.E1156*			P25054	APC_HUMAN	adenomatous polyposis coli	1156	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCATGAAGAAGAAGAGAGACC	0.338000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			6	20					3.59834e-05	3.71149e-05	0.217242	1	0
ZNF200	7752	broad.mit.edu	37	16	3274032	3274032	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:3274032C>T	ENST00000431561.3	-	5	1660	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	ZNF200_ENST00000414144.2_Missense_Mutation_p.E350K|ZNF200_ENST00000396870.4_Missense_Mutation_p.E349K|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396868.3_Missense_Mutation_p.E349K|ZNF200_ENST00000396871.4_Missense_Mutation_p.E349K|ZNF200_ENST00000575948.1_Missense_Mutation_p.E349K	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AGCACAAACTCCTCATTCTTT	0.448000													14	153					0	0	0.500413	0	0
MAP3K3	4215	broad.mit.edu	37	17	61767079	61767079	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:61767079G>A	ENST00000361357.3	+	12	1458	c.1140G>A	c.(1138-1140)agG>agA	p.R380R	MAP3K3_ENST00000579585.1_Silent_p.R380R|MAP3K3_ENST00000584573.1_Silent_p.R376R|MAP3K3_ENST00000577395.1_Silent_p.R345R|MAP3K3_ENST00000361733.3_Silent_p.R349R	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	349	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TGCAGGAGAGGAATGTGCCAA	0.627000													3	50					0	0	0.184627	0	0
ENPEP	2028	broad.mit.edu	37	4	111430911	111430911	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:111430911C>G	ENST00000265162.5	+	5	1484	c.1142C>G	c.(1141-1143)tCa>tGa	p.S381*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	381					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GAATCAGCCTCATCAAACCAA	0.453000													7	70					0	0	0.335167	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860798	38860798	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:38860798G>A	ENST00000409235.3	+	28	3228		c.e28-1		CATSPERG_ENST00000215069.4_Splice_Site|CATSPERG_ENST00000410018.1_Splice_Site	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma						cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AACCCCTGCAGAGGAGTGGAC	0.607000													21	79					0	0	0.654019	0	0
TCEB3	6924	broad.mit.edu	37	1	24078045	24078045	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:24078045C>G	ENST00000418390.2	+	4	1299	c.1028C>G	c.(1027-1029)tCa>tGa	p.S343*	TCEB3_ENST00000609199.1_Nonsense_Mutation_p.S317*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	343					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTGCCTCCCTCAGAGGCCGCT	0.522000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	40					0	0	0.248553	0	0
INTS1	26173	broad.mit.edu	37	7	1515921	1515921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:1515921C>G	ENST00000389470.4	-	39	5933	c.5934G>C	c.(5932-5934)gaG>gaC	p.E1978D	INTS1_ENST00000404767.3_Missense_Mutation_p.E1774D			Q8N201	INT1_HUMAN	integrator complex subunit 1	1774					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCTGACACTCTCATCGTCCC	0.692000													5	23					0	0	0.248553	0	0
ITGA5	3678	broad.mit.edu	37	12	54795249	54795249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:54795249C>T	ENST00000293379.4	-	24	2662	c.2401G>A	c.(2401-2403)Gag>Aag	p.E801K	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	801					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGCACTGCCTCAGGCTTGGAG	0.567000													27	183					0	0	0.706142	0	0
HLCS	3141	broad.mit.edu	37	21	38126565	38126565	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:38126565G>A	ENST00000399120.1	-	12	3393	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	HLCS_ENST00000336648.4_Silent_p.I721I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	721					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GTTTGGGGAGGATGAGGTTTC	0.577000													9	66					0	0	0.411799	0	0
IGLV4-60	28785	broad.mit.edu	37	22	22516835	22516835	+	RNA	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:22516835C>T	ENST00000390284.2	+	0	123																											CGGTCAAGCTCACCTGCACTC	0.557000													8	82					0	0	0.387290	0	0
H1FNT	341567	broad.mit.edu	37	12	48723735	48723735	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:48723735G>A	ENST00000335017.1	+	1	973	c.661G>A	c.(661-663)Gtg>Atg	p.V221M		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	221					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AGGACAGGCCGTGAAGGAAGA	0.662000													4	16					0	0	0.150653	0	0
NUP153	9972	broad.mit.edu	37	6	17675981	17675981	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:17675981C>T	ENST00000262077.2	-	3	354	c.355G>A	c.(355-357)Gct>Act	p.A119T	NUP153_ENST00000537253.1_Missense_Mutation_p.A119T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	119					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TAATTTGAAGCAGTACTAGTT	0.358000													5	69					0	0	0.184627	0	0
SPTBN2	6712	broad.mit.edu	37	11	66453844	66453844	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:66453844G>A	ENST00000529997.1	-	35	6963	c.6964C>T	c.(6964-6966)Ctg>Ttg	p.L2322L	SPTBN2_ENST00000309996.2_Intron|SPTBN2_ENST00000533211.1_Intron			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2320	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCACGGACAGAGAGGAACAC	0.517000													62	204					0	0	0.870114	0	0
SDK2	54549	broad.mit.edu	37	17	71348646	71348646	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:71348646G>A	ENST00000392650.3	-	41	5724	c.5724C>T	c.(5722-5724)ttC>ttT	p.F1908F	SDK2_ENST00000388726.3_Silent_p.F1889F|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1908	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGGGGTGCCGAAACCATAGT	0.647000													3	42					0	0	0.184627	0	0
COL8A2	1296	broad.mit.edu	37	1	36564281	36564281	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:36564281C>G	ENST00000397799.1	-	4	1225	c.1001G>C	c.(1000-1002)gGa>gCa	p.G334A	COL8A2_ENST00000303143.4_Missense_Mutation_p.G334A|COL8A2_ENST00000481785.1_Missense_Mutation_p.G269A			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	334	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCAAGAGTCCTGGGACCCC	0.721000													4	40					0	0	0.217242	0	0
PEX11B	8799	broad.mit.edu	37	1	145522591	145522591	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145522591C>T	ENST00000369306.3	+	4	601	c.452C>T	c.(451-453)tCt>tTt	p.S151F	PEX11B_ENST00000537888.1_Missense_Mutation_p.S137F	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	151					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAGAGTCTTCTGCTTGTAGC	0.527000													13	88					0	0	0.457914	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617864	37617864	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:37617864G>A	ENST00000399151.3	+	19	3671	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1196					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						CTCCAGCGACGAGGAGGCGGA	0.617000													18	47					0	0	0.557998	0	0
NEK10	152110	broad.mit.edu	37	3	27333022	27333022	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:27333022C>T	ENST00000429845.2	-	18	1791	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	NEK10_ENST00000341435.5_Missense_Mutation_p.D477N			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	477							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCACTGATATCACGTACATAA	0.373000													7	36					0	0	0.307466	0	0
PALLD	23022	broad.mit.edu	37	4	169602528	169602528	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:169602528C>G	ENST00000261509.6	+	4	1344	c.1133C>G	c.(1132-1134)tCa>tGa	p.S378*	PALLD_ENST00000505667.1_Nonsense_Mutation_p.S378*|PALLD_ENST00000333488.4_Nonsense_Mutation_p.S255*|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000512127.1_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	378					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCTTTCAAATCAAGAGCTGGA	0.373000									Pancreatic Cancer, Familial Clustering of				8	54					0	0	0.361761	0	0
FAM86A	196483	broad.mit.edu	37	16	5145479	5145479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:5145479C>T	ENST00000427587.4	-	2	201	c.133G>A	c.(133-135)Gag>Aag	p.E45K	FAM86A_ENST00000458008.4_Missense_Mutation_p.E45K|FAM86A_ENST00000587133.1_Missense_Mutation_p.E45K	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	45										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGCAGCAGCTCAGAATCTGAT	0.478000													14	79					0	0	0.539581	0	0
ELMO3	79767	broad.mit.edu	37	16	67233112	67233112	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67233112G>A	ENST00000393997.2	+	1	99	c.42G>A	c.(40-42)ccG>ccA	p.P14P	ELMO3_ENST00000360833.1_Silent_p.P14P	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	0					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCGGGACACCGAGGTCAGGTC	0.687000													4	16					0	0	0.217242	0	0
MYRF	745	broad.mit.edu	37	11	61545871	61545871	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61545871G>A	ENST00000278836.5	+	14	2019	c.1923G>A	c.(1921-1923)gtG>gtA	p.V641V	MYRF_ENST00000389602.4_Silent_p.V32V|MYRF_ENST00000265460.5_Silent_p.V632V|MYRF_ENST00000327797.1_Silent_p.V266V|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CTCAGGAGGTGAAGGAGATCT	0.537000													22	182					0	0	0.681144	0	0
ADRA2B	151	broad.mit.edu	37	2	96780656	96780656	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:96780656G>A	ENST00000409345.3	-	1	1328	c.1233C>T	c.(1231-1233)atC>atT	p.I411I		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	414					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TGCAGTAGCCGATCCAGAAGA	0.582000													3	28					0	0	0.115264	0	0
FCRLA	84824	broad.mit.edu	37	1	161681858	161681858	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161681858G>A	ENST00000540926.1	+	5	945	c.652G>A	c.(652-654)Gat>Aat	p.D218N	FCRLA_ENST00000367953.3_Missense_Mutation_p.D218N|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000294796.4_Missense_Mutation_p.D78N|FCRLA_ENST00000540521.1_Missense_Mutation_p.D95N|FCRLA_ENST00000236938.6_Missense_Mutation_p.D229N|FCRLA_ENST00000367957.2_Missense_Mutation_p.D89N|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.D235N|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000309691.6_Missense_Mutation_p.D123N|FCRLA_ENST00000546024.1_Missense_Mutation_p.D140N			Q7L513	FCRLA_HUMAN	Fc receptor-like A	212	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTTCTACAAGGATGGAAGGAT	0.562000													9	77					0	0	0.307466	0	0
PTBP2	58155	broad.mit.edu	37	1	97278881	97278881	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:97278881C>G	ENST00000609116.1	+	14	1601	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E	PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.Q523E|PTBP2_ENST00000426398.2_Missense_Mutation_p.Q506E|PTBP2_ENST00000370198.1_Missense_Mutation_p.Q511E|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.Q512E			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2		RRM 4.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGAAGCTATTCAGGCCTTGAT	0.348000													7	47					0	0	0.307466	0	0
FAM8A1	51439	broad.mit.edu	37	6	17600696	17600696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:17600696G>A	ENST00000259963.3	+	1	111	c.56G>A	c.(55-57)gGa>gAa	p.G19E		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	19						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GACGATGGCGGAGGGGACCAC	0.736000													10	14					0	0	0.361761	0	0
KRT6A	3853	broad.mit.edu	37	12	52886480	52886480	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:52886480C>T	ENST00000330722.6	-	1	561	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	165	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGATCTGTTCACGCTCCTCA	0.592000													41	290					0	0	0.870114	0	0
DOCK4	9732	broad.mit.edu	37	7	111509670	111509670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:111509670G>A	ENST00000428084.1	-	21	2341	c.2069C>T	c.(2068-2070)aCa>aTa	p.T690I	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.T690I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	690					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTCTGCTTCTGTGATCCGGTC	0.423000													12	47					0	0	0.520397	0	0
RHOH	399	broad.mit.edu	37	4	40245012	40245012	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:40245012G>C	ENST00000381799.5	+	3	730	c.6G>C	c.(4-6)ctG>ctC	p.L2L	RHOH_ENST00000505618.1_Silent_p.L2L	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H						negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GGAAGATGCTGAGTTCCATCA	0.582000													16	88					0	0	0.557998	0	0
SERINC3	10955	broad.mit.edu	37	20	43132467	43132467	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43132467G>A	ENST00000342374.4	-	8	1201	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	SERINC3_ENST00000255175.1_Silent_p.L348L|SERINC3_ENST00000541235.1_Silent_p.L293L	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	348						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TAGAATACAAGAGGCAGAGAA	0.378000													4	61					0	0	0.217242	0	0
RC3H2	54542	broad.mit.edu	37	9	125642878	125642878	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:125642878C>G	ENST00000373670.1	-	5	1555	c.955G>C	c.(955-957)Gat>Cat	p.D319H	RC3H2_ENST00000335387.5_Missense_Mutation_p.D319H|RC3H2_ENST00000357244.2_Missense_Mutation_p.D319H|RC3H2_ENST00000373665.2_Missense_Mutation_p.D319H|RC3H2_ENST00000423239.2_Missense_Mutation_p.D319H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	319						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CAAACCTTATCAATGATAGAC	0.368000													3	48					0	0	0.115264	0	0
GIGYF2	26058	broad.mit.edu	37	2	233599920	233599920	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:233599920A>G	ENST00000373566.3	+	3	210	c.13A>G	c.(13-15)Acg>Gcg	p.T5A	GIGYF2_ENST00000409196.3_Missense_Mutation_p.T5A|GIGYF2_ENST00000482666.1_3'UTR|GIGYF2_ENST00000373563.4_Missense_Mutation_p.T5A|GIGYF2_ENST00000409451.3_Missense_Mutation_p.T5A|GIGYF2_ENST00000409480.1_Missense_Mutation_p.T5A|GIGYF2_ENST00000409547.1_Missense_Mutation_p.T5A			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	5					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGCAGCGGAAACGCAGACACT	0.333000													4	29					0	0	0.248553	0	0
TTN	7273	broad.mit.edu	37	2	179441742	179441742	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:179441742C>G	ENST00000589042.1	-	324	69544	c.69320G>C	c.(69319-69321)gGa>gCa	p.G23107A	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14167A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14042A|TTN_ENST00000342175.6_Missense_Mutation_p.G14234A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20539A|TTN_ENST00000591111.1_Missense_Mutation_p.G21466A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21466	Ig-like 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTCATTTCCTTGGATAAG	0.428000													3	141					0	0	0.150653	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925239	67925239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67925239C>G	ENST00000304363.4	-	11	2927	c.2574G>C	c.(2572-2574)ttG>ttC	p.L858F		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	858					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.L858F(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTATTAACCTCAAGCGCTTAG	0.403000													7	20					0	0	0.248553	0	0
STX5	6811	broad.mit.edu	37	11	62575050	62575050	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:62575050G>C	ENST00000294179.3	-	11	1112	c.959C>G	c.(958-960)tCa>tGa	p.S320*	STX5_ENST00000377897.4_3'UTR|STX5_ENST00000541317.1_Nonsense_Mutation_p.S224*|STX5_ENST00000394690.1_Nonsense_Mutation_p.S266*	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	320	t-SNARE coiled-coil homology.				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GAGGATCTCTGAATGGGCGGC	0.507000													11	32					0	0	0.387290	0	0
LTBP2	4053	broad.mit.edu	37	14	75078187	75078187	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:75078187G>A	ENST00000261978.4	-	1	847	c.461C>T	c.(460-462)gCg>gTg	p.A154V	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.A154V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	154					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGTTGGGGGCGCAGCCCCAGA	0.726000													6	59					0	0	0.248553	0	0
RASA4CP	401331	broad.mit.edu	37	7	44073872	44073872	+	RNA	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:44073872C>T	ENST00000446874.1	-	0	240																											TGCTCACCTTCCGCAGCACAG	0.577000													8	47					0	0	0.361761	0	0
STK4	6789	broad.mit.edu	37	20	43610474	43610474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43610474C>T	ENST00000372806.3	+	4	345	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	STK4_ENST00000499879.2_Missense_Mutation_p.H84Y|STK4_ENST00000372801.1_Missense_Mutation_p.H84Y|STK4_ENST00000396731.4_Missense_Mutation_p.H84Y	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	84	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CTCTAGCCCTCATGTAGTCAA	0.348000													7	43					0	0	0.278610	0	0
OLFML2B	25903	broad.mit.edu	37	1	161993194	161993194	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161993194G>A	ENST00000294794.3	-	1	450	c.27C>T	c.(25-27)ctC>ctT	p.L9L	OLFML2B_ENST00000367940.2_Silent_p.L9L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	9										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GAGCGAAGTAGAGAACTAGCA	0.632000													6	56					0	0	0.217242	0	0
SRRM2	23524	broad.mit.edu	37	16	2812362	2812362	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2812362G>C	ENST00000301740.8	+	11	2382	c.1833G>C	c.(1831-1833)cgG>cgC	p.R611R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	611	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACCAGCCCGGAGGGGCAGGT	0.622000													6	85					0	0	0.217242	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677231	36677231	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:36677231G>C	ENST00000265113.4	+	6	1281	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	SLC1A3_ENST00000381918.3_Missense_Mutation_p.E269Q|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	269					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GGCCCTGAGAGAGTTCTTTGA	0.413000													4	57					0	0	0.184627	0	0
TNR	7143	broad.mit.edu	37	1	175372540	175372540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:175372540C>T	ENST00000367674.2	-	4	1420	c.712G>A	c.(712-714)Gac>Aac	p.D238N	TNR_ENST00000263525.2_Missense_Mutation_p.D238N			Q92752	TENR_HUMAN	tenascin R		Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGCTGCAGTCTGTTGGGCAC	0.647000													30	310					0	0	0.740014	0	0
FSCN1	6624	broad.mit.edu	37	7	5633134	5633134	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:5633134G>C	ENST00000382361.3	+	1	681	c.567G>C	c.(565-567)caG>caC	p.Q189H	FSCN1_ENST00000340250.6_Missense_Mutation_p.Q168H	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	189					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ACAGCGTGCAGACCGCCGACC	0.741000													5	59					0	0	0.248553	0	0
RAB3D	9545	broad.mit.edu	37	19	11448060	11448060	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:11448060C>T	ENST00000222120.3	-	2	276	c.16G>A	c.(16-18)Gac>Aac	p.D6N	RAB3D_ENST00000589655.1_Missense_Mutation_p.D6N	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	6					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GCCTGGGTGTCTCCAGCTGAT	0.547000													22	170					0	0	0.639603	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35916018	35916018	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:35916018C>T	ENST00000325722.3	-	14	2389	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.D156N|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	719	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCTTGTCATCTGAGGACTTA	0.512000													13	116					0	0	0.435327	0	0
GABRP	2568	broad.mit.edu	37	5	170222427	170222427	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:170222427C>G	ENST00000518525.1	+	6	920	c.456C>G	c.(454-456)ctC>ctG	p.L152L	GABRP_ENST00000519385.1_Silent_p.L152L|GABRP_ENST00000265294.4_Silent_p.L152L|GABRP_ENST00000519598.1_Silent_p.L152L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	152						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTATGCCCTCAGGTACGCGG	0.532000													9	79					0	0	0.307466	0	0
CREM	1390	broad.mit.edu	37	10	35500212	35500212	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:35500212G>A	ENST00000333809.8	+	8	987	c.933G>A	c.(931-933)aaG>aaA	p.K311K	CREM_ENST00000395887.3_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000460270.1_Silent_p.K58K|CREM_ENST00000337656.4_Silent_p.K262K|CREM_ENST00000342105.3_Intron|CREM_ENST00000474931.1_Silent_p.K75K|CREM_ENST00000490511.1_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000488741.1_Silent_p.K65K|CREM_ENST00000348787.2_Intron|CREM_ENST00000468236.1_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000463960.1_Intron|CREM_ENST00000395895.2_Intron|CREM_ENST00000374721.3_Silent_p.K232K|CREM_ENST00000488328.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000473940.1_Silent_p.K83K|CREM_ENST00000345491.3_Intron|CREM_ENST00000344351.5_Silent_p.K58K|CREM_ENST00000356917.5_Silent_p.K71K|CREM_ENST00000374734.3_Silent_p.K199K|CREM_ENST00000354759.3_Silent_p.K211K|CREM_ENST00000429130.3_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000439705.1_Silent_p.K248K	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	323					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						GCAGGAAGAAGAAAGAATATG	0.468000													3	51					0	0	0.150653	0	0
PHLDA3	23612	broad.mit.edu	37	1	201437671	201437671	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:201437671C>T	ENST00000367311.3	-	1	641	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PHLDA3_ENST00000485436.1_5'UTR|PHLDA3_ENST00000367309.1_Missense_Mutation_p.E82K	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	82	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						AAGTCGATCTCGCCGCCCCCT	0.652000													62	139					0	0	0.870114	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76027118	76027118	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:76027118C>T	ENST00000275560.3	-	6	932	c.585G>A	c.(583-585)gcG>gcA	p.A195A	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	195	SRCR 2.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GACACAGGTTCGCGCCCCCTA	0.706000													4	30					0	0	0.184627	0	0
NFIB	4781	broad.mit.edu	37	9	14313493	14313493	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:14313493G>A	ENST00000380959.3	-	1	491	c.18C>T	c.(16-18)atC>atT	p.I6I	NFIB_ENST00000380934.4_Intron|NFIB_ENST00000380921.3_Silent_p.I6I|NFIB_ENST00000380953.1_Silent_p.I6I|NFIB_ENST00000397579.2_Silent_p.I6I|NFIB_ENST00000397575.3_Silent_p.I6I|NFIB_ENST00000397581.2_Silent_p.I6I	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	6					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GAGTGAGACAGATGGGAGAAT	0.443000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								12	120					0	0	0.520397	0	0
TMX4	56255	broad.mit.edu	37	20	7962990	7962990	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:7962990C>A	ENST00000246024.2	-	8	1173	c.958G>T	c.(958-960)Ggc>Tgc	p.G320C		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	320	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TCAGAGATGCCTTCTTCAGCC	0.562000													13	80					2.23348e-06	2.32566e-06	0.500413	1	0
PGM5	5239	broad.mit.edu	37	9	71080072	71080072	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:71080072T>A	ENST00000396396.1	+	7	1336	c.1107T>A	c.(1105-1107)aaT>aaA	p.N369K	PGM5_ENST00000396392.1_Missense_Mutation_p.N369K	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	369					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TCTTCTCAAATCTGATGGACT	0.453000													9	73					0	0	0.361761	0	0
C10orf54	64115	broad.mit.edu	37	10	73521588	73521588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:73521588G>A	ENST00000394957.3	-	2	336	c.278C>T	c.(277-279)aCg>aTg	p.T93M	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	93	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTCCTGGAACGTGAGGTTGCG	0.652000													20	64					0	0	0.608945	0	0
MYRF	745	broad.mit.edu	37	11	61545877	61545877	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61545877G>A	ENST00000278836.5	+	14	2025	c.1929G>A	c.(1927-1929)gaG>gaA	p.E643E	MYRF_ENST00000389602.4_Silent_p.E34E|MYRF_ENST00000265460.5_Silent_p.E634E|MYRF_ENST00000327797.1_Silent_p.E268E|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		AGGTGAAGGAGATCTTGCCTG	0.547000													24	182					0	0	0.717897	0	0
USP48	84196	broad.mit.edu	37	1	22074665	22074665	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:22074665G>C	ENST00000308271.9	-	7	1522	c.874C>G	c.(874-876)Ctg>Gtg	p.L292V	USP48_ENST00000529637.1_Missense_Mutation_p.L292V|USP48_ENST00000400301.1_Missense_Mutation_p.L292V|USP48_ENST00000421625.2_Missense_Mutation_p.L292V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	292					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGCAAGTTCAGAGTGCAAGGA	0.378000													9	60					0	0	0.411799	0	0
ALPP	250	broad.mit.edu	37	2	233243989	233243989	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:233243989G>A	ENST00000392027.2	+	3	542	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	91						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGATACCCCTGGCCATGGACC	0.552000													7	54					0	0	0.307466	0	0
GALM	130589	broad.mit.edu	37	2	38893390	38893390	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:38893390G>C	ENST00000272252.5	+	1	339	c.87G>C	c.(85-87)ttG>ttC	p.L29F	GALM_ENST00000410063.1_Missense_Mutation_p.L29F	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	29					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CAGACCTCTTGAGAGTGGACA	0.602000													9	81					0	0	0.361761	0	0
KCNS2	3788	broad.mit.edu	37	8	99440621	99440621	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:99440621G>C	ENST00000287042.4	+	2	764	c.414G>C	c.(412-414)caG>caC	p.Q138H	KCNS2_ENST00000521839.1_Missense_Mutation_p.Q138H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	138						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGGACGAGCAGAGTGACCAGG	0.577000													5	57					0	0	0.248553	0	0
WDR54	84058	broad.mit.edu	37	2	74650498	74650498	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:74650498G>C	ENST00000348227.4	+	4	426	c.338G>C	c.(337-339)gGa>gCa	p.G113A	WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Missense_Mutation_p.G61A	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	113										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						CTGGACTCTGGAGATGCCTCC	0.567000													25	262					0	0	0.706142	0	0
PEX1	5189	broad.mit.edu	37	7	92118624	92118624	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:92118624C>A	ENST00000248633.4	-	23	3845	c.3750G>T	c.(3748-3750)tgG>tgT	p.W1250C	PEX1_ENST00000438045.1_Missense_Mutation_p.W928C|AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000428214.1_Missense_Mutation_p.W1193C	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1250					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAAAATTCTTCCAGTCATCTT	0.378000													5	25					3.59834e-05	3.71149e-05	0.217242	1	0
WDR34	89891	broad.mit.edu	37	9	131396209	131396209	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:131396209C>G	ENST00000372715.2	-	9	1485	c.1425G>C	c.(1423-1425)ttG>ttC	p.L475F		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	475						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TTTGCTTGATCAAAACTGTGG	0.517000													5	52					0	0	0.217242	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77393224	77393224	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:77393224G>A	ENST00000282849.5	-	8	1731	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	438	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTGTGCCCTGACTCATGAGC	0.463000													4	22					0	0	0.184627	0	0
APOL2	23780	broad.mit.edu	37	22	36624083	36624083	+	Silent	SNP	A	A	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36624083A>T	ENST00000249066.6	-	6	857	c.381T>A	c.(379-381)tcT>tcA	p.S127S	APOL2_ENST00000358502.5_Silent_p.S127S|APOL2_ENST00000451256.2_Silent_p.S239S	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	127					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TCAGGATGCCAGAGGTAGTGC	0.572000													14	57					0	0	0.520397	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197336	1197336	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:1197336G>T	ENST00000401903.1	-	3	365	c.106C>A	c.(106-108)Cat>Aat	p.H36N	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.H36N			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	36						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		TATGGAAAATGATCTTTACAG	0.358000													25	276					1.55811e-20	1.6825e-20	0.729181	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95201922	95201922	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:95201922G>A	ENST00000354268.4	+	20	2671	c.2598G>A	c.(2596-2598)ttG>ttA	p.L866L	SMARCAD1_ENST00000457823.2_Silent_p.L868L|SMARCAD1_ENST00000509418.1_Silent_p.L436L			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	866	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGTCTGAATTGAAACAGAAGG	0.323000													10	67					0	0	0.411799	0	0
PCMTD2	55251	broad.mit.edu	37	20	62891502	62891502	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62891502C>G	ENST00000308824.6	+	2	311	c.184C>G	c.(184-186)Cac>Gac	p.H62D	PCMTD2_ENST00000369758.4_Missense_Mutation_p.H62D|PCMTD2_ENST00000609372.1_Missense_Mutation_p.H62D|PCMTD2_ENST00000299468.7_Missense_Mutation_p.H62D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	62						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGAAACATTCACCTCTCAGC	0.483000													12	107					0	0	0.411799	0	0
GPALPP1	55425	broad.mit.edu	37	13	45589108	45589108	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:45589108G>C	ENST00000361121.2	+	5	465	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	GPALPP1_ENST00000357537.3_5'UTR|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000379151.4_Missense_Mutation_p.E144Q					GPALPP motifs containing 1	144																	CAGTGAAGATGAGGATATTAT	0.348000													10	48					0	0	0.435327	0	0
TTLL5	23093	broad.mit.edu	37	14	76211452	76211452	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:76211452C>G	ENST00000298832.9	+	16	1501	c.1296C>G	c.(1294-1296)ctC>ctG	p.L432L	TTLL5_ENST00000557636.1_Silent_p.L446L|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	432					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCCGTCCACTCTCTGCCAGTG	0.458000													7	20					0	0	0.278610	0	0
GPC4	2239	broad.mit.edu	37	X	132440162	132440162	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:132440162C>G	ENST00000370828.3	-	5	1422	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	GPC4_ENST00000535467.1_Missense_Mutation_p.E230Q	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	300					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TCTAGCCTCTCTGCCACCATC	0.393000													17	82					0	0	0.539581	0	0
PPL	5493	broad.mit.edu	37	16	4934819	4934819	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4934819C>T	ENST00000345988.2	-	22	3926	c.3837G>A	c.(3835-3837)ctG>ctA	p.L1279L	PPL_ENST00000590782.2_Silent_p.L1277L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1279					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGGTGTCTTTCAGGGCCTGGA	0.532000													27	132					0	0	0.779181	0	0
LNPEP	4012	broad.mit.edu	37	5	96315472	96315472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:96315472C>A	ENST00000231368.5	+	2	1342	c.650C>A	c.(649-651)tCa>tAa	p.S217*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.S203*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	217					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CATAATATTTCAAGAGTGACC	0.433000													4	33					0.150653	0.151694	0.150653	1	0
CNTLN	54875	broad.mit.edu	37	9	17484452	17484452	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:17484452G>A	ENST00000380647.3	+	24	4099	c.4015G>A	c.(4015-4017)Gaa>Aaa	p.E1339K	CNTLN_ENST00000425824.1_Missense_Mutation_p.E1339K|CNTLN_ENST00000262360.5_Missense_Mutation_p.E1339K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1339						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGATTTAGAGGAAATATTAGA	0.323000													5	34					0	0	0.217242	0	0
ZNF530	348327	broad.mit.edu	37	19	58117277	58117277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:58117277G>A	ENST00000332854.6	+	3	604	c.384G>A	c.(382-384)tgG>tgA	p.W128*	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGATTTCTGGATGAGTTCAA	0.458000													14	35					0	0	0.479597	0	0
ADAM11	4185	broad.mit.edu	37	17	42850646	42850646	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:42850646C>G	ENST00000200557.6	+	11	1012	c.843C>G	c.(841-843)ctC>ctG	p.L281L	ADAM11_ENST00000535346.1_Silent_p.L81L	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	281	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGGAGCAGCTCAACACTCGCA	0.607000													23	173					0	0	0.717897	0	0
KIF16B	55614	broad.mit.edu	37	20	16359856	16359856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:16359856G>A	ENST00000354981.2	-	19	2948	c.2791C>T	c.(2791-2793)Ctt>Ttt	p.L931F	KIF16B_ENST00000378003.2_Missense_Mutation_p.L157F|KIF16B_ENST00000355755.3_Missense_Mutation_p.L931F|KIF16B_ENST00000408042.1_Missense_Mutation_p.L931F	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	931	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCTCTGTCAAGAATTTCAAAT	0.433000													4	58					0	0	0.150653	0	0
RGS22	26166	broad.mit.edu	37	8	101014551	101014551	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:101014551C>G	ENST00000360863.6	-	18	2863	c.2669G>C	c.(2668-2670)aGa>aCa	p.R890T	RGS22_ENST00000523437.1_Missense_Mutation_p.R878T|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Missense_Mutation_p.R709T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	890	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTAAGTTATTCTCCGGAACTG	0.323000													6	29					0	0	0.278610	0	0
PRKAB1	5564	broad.mit.edu	37	12	120118103	120118103	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:120118103C>T	ENST00000229328.5	+	7	1278	c.786C>T	c.(784-786)gtC>gtT	p.V262V	PRKAB1_ENST00000541640.1_Silent_p.V262V|PRKAB1_ENST00000540121.1_Silent_p.V96V|PRKAB1_ENST00000537057.1_3'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	262					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	AGAAGTACGTCACCACCTTGT	0.552000													6	45					0	0	0.278610	0	0
MYBPC1	4604	broad.mit.edu	37	12	102057224	102057224	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:102057224C>T	ENST00000549145.1	+	21	2306	c.2206C>T	c.(2206-2208)Ctt>Ttt	p.L736F	MYBPC1_ENST00000452455.2_Missense_Mutation_p.L723F|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L710F|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L723F|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L723F|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L704F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L709F|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L723F|MYBPC1_ENST00000550270.1_Missense_Mutation_p.L723F|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L723F|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L711F|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L697F|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L748F|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L624F|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L748F			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	723	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCCTCCTACTCTTCTGACTGT	0.458000													14	96					0	0	0.500413	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33017213	33017213	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:33017213C>T	ENST00000357505.6	-	7	1520	c.1416G>A	c.(1414-1416)agG>agA	p.R472R	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Silent_p.R487R|N4BP2L2_ENST00000504114.1_Silent_p.R472R|N4BP2L2_ENST00000380121.3_5'UTR	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	140										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTTTCTTCCTCCTTTTCTTAT	0.343000													4	15					0	0	0.217242	0	0
ARID4B	51742	broad.mit.edu	37	1	235345386	235345386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:235345386C>T	ENST00000264183.3	-	20	3345	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	ARID4B_ENST00000349213.3_Missense_Mutation_p.E864K|ARID4B_ENST00000366603.2_Missense_Mutation_p.E950K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	950					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GCTGCAGCCTCAGTATCAGAG	0.517000													14	59					0	0	0.500413	0	0
SS18	6760	broad.mit.edu	37	18	23619259	23619259	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:23619259G>T	ENST00000415083.2	-	6	824	c.769C>A	c.(769-771)Caa>Aaa	p.Q257K	SS18_ENST00000542743.1_Missense_Mutation_p.Q205K|SS18_ENST00000542420.2_Missense_Mutation_p.Q234K|SS18_ENST00000539849.1_Missense_Mutation_p.Q175K|SS18_ENST00000269137.7_Missense_Mutation_p.Q257K|SS18_ENST00000545952.1_Missense_Mutation_p.Q205K	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	257	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TTACCCTGTTGAGGAGGTCTA	0.398000			T	"""SSX1,  SSX2"""	synovial sarcoma								13	69					2.32078e-09	2.45356e-09	0.479597	1	0
LRRC25	126364	broad.mit.edu	37	19	18507660	18507660	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18507660G>A	ENST00000339007.3	-	1	767	c.114C>T	c.(112-114)ttC>ttT	p.F38F	LRRC25_ENST00000595840.1_Silent_p.F38F	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	38						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						ACGTGGCACTGAACTCCGCGT	0.617000													15	79					0	0	0.479597	0	0
DYRK3	8444	broad.mit.edu	37	1	206821558	206821558	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206821558G>C	ENST00000367106.1	+	4	1428	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	DYRK3_ENST00000367109.2_Missense_Mutation_p.E339Q|DYRK3_ENST00000367108.3_Missense_Mutation_p.E319Q|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	339	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTGAAGCCAGAAAACATTCT	0.468000													14	80					0	0	0.520397	0	0
COL19A1	1310	broad.mit.edu	37	6	70909340	70909340	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:70909340C>A	ENST00000322773.4	+	49	3225	c.3123C>A	c.(3121-3123)ctC>ctA	p.L1041L	COL19A1_ENST00000393344.1_Silent_p.L663L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1041					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TATCCCAGCTCAAGCTGCCAG	0.453000													7	46					0.0381472	0.0386182	0.278610	1	0
ITGB4	3691	broad.mit.edu	37	17	73753570	73753570	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73753570G>C	ENST00000200181.3	+	40	5590	c.5403G>C	c.(5401-5403)gtG>gtC	p.V1801V	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Silent_p.V1731V|ITGB4_ENST00000579662.1_Silent_p.V1731V|ITGB4_ENST00000449880.2_Silent_p.V1784V|ITGB4_ENST00000339591.3_Silent_p.V1784V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1801					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGAGTTTGTGAGCCGGACAC	0.637000													24	143					0	0	0.706142	0	0
NOD2	64127	broad.mit.edu	37	16	50745519	50745519	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:50745519C>G	ENST00000300589.2	+	4	1802	c.1697C>G	c.(1696-1698)tCa>tGa	p.S566*		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	566	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TACGTGTTCTCAGCCCAGCAG	0.647000													6	52					0	0	0.278610	0	0
KIF24	347240	broad.mit.edu	37	9	34257247	34257247	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:34257247C>T	ENST00000379166.2	-	11	2477	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	KIF24_ENST00000402558.2_Silent_p.L786L|KIF24_ENST00000345050.2_Silent_p.L652L|KIF24_ENST00000379174.3_Silent_p.L652L	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	786					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AAGACCTTTTCAGTGGTTGGT	0.517000													9	80					0	0	0.361761	0	0
TOLLIP	54472	broad.mit.edu	37	11	1298324	1298324	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:1298324C>T	ENST00000527886.1	-	6	943	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	TOLLIP_ENST00000263646.7_Missense_Mutation_p.R229Q|TOLLIP_ENST00000525159.1_Missense_Mutation_p.R196Q|TOLLIP_ENST00000542915.1_Missense_Mutation_p.R207Q|TOLLIP_ENST00000527938.1_3'UTR|TOLLIP_ENST00000317204.6_Missense_Mutation_p.R257Q			Q9H0E2	TOLIP_HUMAN	toll interacting protein	257					cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CTTGTTCCCTCGCTGGGCTTC	0.627000													24	163					0	0	0.740014	0	0
NEDD9	4739	broad.mit.edu	37	6	11190713	11190713	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:11190713G>C	ENST00000379446.5	-	5	1555	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.L463L	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	463					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGACAAAGTGGAGGTACTCCT	0.522000													5	67					0	0	0.248553	0	0
WNT2B	7482	broad.mit.edu	37	1	113058964	113058964	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:113058964C>T	ENST00000369686.5	+	4	653	c.549C>T	c.(547-549)ttC>ttT	p.F183F	WNT2B_ENST00000369684.4_Silent_p.F202F|WNT2B_ENST00000256640.5_Silent_p.F110F|WNT2B_ENST00000478360.1_3'UTR	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B						chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAAGGCCTTCGTGGATGCCA	0.557000													13	108					0	0	0.457914	0	0
MCTP2	55784	broad.mit.edu	37	15	94986184	94986184	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:94986184G>C	ENST00000357742.4	+	18	2245	c.2245G>C	c.(2245-2247)Gac>Cac	p.D749H	MCTP2_ENST00000451018.3_Intron	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	749					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGATGAAGATGACAAGGTGCG	0.383000													8	64					0	0	0.278610	0	0
SPATC1	375686	broad.mit.edu	37	8	145095934	145095934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145095934C>T	ENST00000377470.3	+	3	1334	c.1232C>T	c.(1231-1233)tCg>tTg	p.S411L	SPATC1_ENST00000447830.2_Missense_Mutation_p.S411L	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	411										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGAACCGTCGACGAAGAGC	0.632000													21	164					0	0	0.592651	0	0
TTC19	54902	broad.mit.edu	37	17	15902870	15902870	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:15902870C>G	ENST00000486880.2	+	1	89	c.71C>G	c.(70-72)tCa>tGa	p.S24*	ZSWIM7_ENST00000399277.1_Silent_p.L13L|ZSWIM7_ENST00000486655.1_5'UTR|TTC19_ENST00000261647.5_5'UTR|ZSWIM7_ENST00000472495.1_Silent_p.L13L|ZSWIM7_ENST00000399280.2_Intron			Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	0					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCATCTCGCTCAGGAGCTCCT	0.746000													4	21					0	0	0.248553	0	0
FBN3	84467	broad.mit.edu	37	19	8175799	8175799	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:8175799G>A	ENST00000600128.1	-	34	4677	c.4263C>T	c.(4261-4263)aaC>aaT	p.N1421N	FBN3_ENST00000270509.2_Silent_p.N1421N|FBN3_ENST00000601739.1_Silent_p.N1421N			Q75N90	FBN3_HUMAN	fibrillin 3	1421	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTCCAGGCAGGTTCTCACAGC	0.622000													38	205					0	0	0.840704	0	0
CRKL	1399	broad.mit.edu	37	22	21272303	21272303	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:21272303G>A	ENST00000354336.3	+	1	590	c.81G>A	c.(79-81)cgG>cgA	p.R27R		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	27	SH2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CGCAGACCCGGCTCCAGGGCC	0.662000													15	64					0	0	0.557998	0	0
TAF8	129685	broad.mit.edu	37	6	42034150	42034150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:42034150C>G	ENST00000372977.3	+	6	608	c.590C>G	c.(589-591)aCa>aGa	p.T197R	TAF8_ENST00000465926.1_Missense_Mutation_p.T134R|TAF8_ENST00000372982.4_Missense_Mutation_p.T197R|TAF8_ENST00000456846.2_Missense_Mutation_p.T197R|TAF8_ENST00000494547.1_Missense_Mutation_p.T197R	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	197					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ATGGCCAAGACAGGCGAGACT	0.537000													15	80					0	0	0.500413	0	0
RNPEP	6051	broad.mit.edu	37	1	201965372	201965372	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:201965372G>A	ENST00000295640.4	+	4	878	c.835G>A	c.(835-837)Gga>Aga	p.G279R	RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.5_ENST00000608886.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	279					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAAGCTTTTTGGACCTTATGT	0.493000													13	147					0	0	0.575678	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16053943	16053943	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:16053943C>T	ENST00000375799.3	+	9	1603	c.1376C>T	c.(1375-1377)tCa>tTa	p.S459L	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S439L|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	459					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGGGGCTTTCAGCCCCAATG	0.632000													4	6					0	0	0.217242	0	0
WWC3	55841	broad.mit.edu	37	X	10106775	10106775	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:10106775C>T	ENST00000380861.4	+	21	3274	c.2883C>T	c.(2881-2883)ctC>ctT	p.L961L	WWC3_ENST00000454666.1_Silent_p.L961L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	961										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGGCTGAGCTCATGGCCCGCA	0.597000													6	33					0	0	0.248553	0	0
ZNF160	90338	broad.mit.edu	37	19	53572607	53572607	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53572607C>G	ENST00000601421.1	-	3	1948	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	ZNF160_ENST00000599056.1_Missense_Mutation_p.E394Q|ZNF160_ENST00000429604.1_Missense_Mutation_p.E394Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.E394Q			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	394					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TAAGGTTTCTCTCCAGTGTGA	0.398000													13	149					0	0	0.435327	0	0
RAE1	8480	broad.mit.edu	37	20	55949817	55949817	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:55949817G>A	ENST00000395841.2	+	11	1400	c.980G>A	c.(979-981)gGa>gAa	p.G327E	RAE1_ENST00000527947.1_Missense_Mutation_p.G327E|RAE1_ENST00000371242.2_Missense_Mutation_p.G327E|RAE1_ENST00000395840.2_Missense_Mutation_p.G327E	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	327					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AATCACAATGGAAACATATTT	0.493000													5	95					0	0	0.217242	0	0
RAD23A	5886	broad.mit.edu	37	19	13059132	13059132	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:13059132G>C	ENST00000586534.1	+	3	437	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000592268.1_Missense_Mutation_p.E126Q|RAD23A_ENST00000316856.3_Missense_Mutation_p.E126Q			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	126					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GAGCCCATCAGAGGAATCCGC	0.652000								Nucleotide excision repair (NER)					6	106					0	0	0.361761	0	0
PRKG2	5593	broad.mit.edu	37	4	82065388	82065388	+	Silent	SNP	C	C	T	rs112801782	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:82065388C>T	ENST00000395578.1	-	10	1367	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A	PRKG2_ENST00000418486.2_Silent_p.A417A|PRKG2_ENST00000264399.1_Silent_p.A417A|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	417					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CCACTTACTTCGCATGTCTTT	0.428000													7	34					0	0	0.307466	0	0
RAB24	53917	broad.mit.edu	37	5	176730193	176730193	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:176730193G>C	ENST00000303251.6	-	1	516	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	RAB24_ENST00000393611.2_Missense_Mutation_p.L33V|RAB24_ENST00000303270.6_5'UTR	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	33					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCCCACCAGAAAGCGGTCG	0.647000													25	156					0	0	0.740014	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452198	43452198	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:43452198C>G	ENST00000282388.3	-	2	1038	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	249					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCCGCGGCTCCCGCGGGAAG	0.751000													3	36					0	0	0.150653	0	0
LIMA1	51474	broad.mit.edu	37	12	50616148	50616148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:50616148C>A	ENST00000341247.4	-	4	435	c.286G>T	c.(286-288)Gag>Tag	p.E96*	RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.E96*|LIMA1_ENST00000552783.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	96					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TGCCTAATCTCAGTGCTGCTG	0.527000													16	173					4.96729e-08	5.2095e-08	0.575678	1	0
COL14A1	7373	broad.mit.edu	37	8	121383405	121383405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:121383405C>T	ENST00000297848.3	+	48	5596	c.5326C>T	c.(5326-5328)Cag>Tag	p.Q1776*	COL14A1_ENST00000247781.3_Nonsense_Mutation_p.Q1681*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1776	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCATCCAGATCAGCCAGAGTT	0.522000													18	199					0	0	0.681144	0	0
POU2F1	5451	broad.mit.edu	37	1	167367230	167367230	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167367230G>A	ENST00000367862.5	+	11	1331		c.e11-1		POU2F1_ENST00000367866.2_Splice_Site|POU2F1_ENST00000420254.3_Splice_Site|POU2F1_ENST00000541643.3_Splice_Site|POU2F1_ENST00000367865.1_Splice_Site|POU2F1_ENST00000429375.2_Splice_Site	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CATTCTTACAGAGAACCTCTC	0.413000													6	26					0	0	0.278610	0	0
ACSS3	79611	broad.mit.edu	37	12	81472105	81472105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:81472105C>A	ENST00000548058.1	+	1	1116	c.206C>A	c.(205-207)tCg>tAg	p.S69*	ACSS3_ENST00000261206.3_Nonsense_Mutation_p.S69*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	69						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTCGCAGCCTCGGTGACCGAC	0.657000													9	90					0.000442599	0.000453664	0.335167	1	0
CASP4	837	broad.mit.edu	37	11	104821781	104821781	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:104821781G>A	ENST00000444739.2	-	4	1327	c.417C>T	c.(415-417)ctC>ctT	p.L139L	CASP4_ENST00000393150.3_Silent_p.L83L|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	139					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGCATATGATGAGAGCCAGGC	0.453000													5	38					0	0	0.248553	0	0
CCDC108	255101	broad.mit.edu	37	2	219896248	219896248	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:219896248C>T	ENST00000341552.5	-	7	861	c.778G>A	c.(778-780)Gat>Aat	p.D260N	CCDC108_ENST00000441968.1_Missense_Mutation_p.D260N|CCDC108_ENST00000410037.1_Missense_Mutation_p.D195N|CCDC108_ENST00000453220.1_Missense_Mutation_p.D260N|CCDC108_ENST00000409865.3_Missense_Mutation_p.D249N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	260						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGTCGTATCTCCCACAGCA	0.627000													39	328					0	0	0.870114	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	155046	155046	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:155046G>A	ENST00000283426.6	+	6	1031	c.981G>A	c.(979-981)ctG>ctA	p.L327L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	327					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCTGCCAGCTGACCGCAGACC	0.572000													24	92					0	0	0.693898	0	0
KCNQ5	56479	broad.mit.edu	37	6	73843323	73843323	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:73843323C>T	ENST00000342056.2	+	11	1882	c.1484C>T	c.(1483-1485)tCg>tTg	p.S495L	KCNQ5_ENST00000370398.1_Missense_Mutation_p.S476L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S486L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S477L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S476L|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S467L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	476					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTCCGGCCCTCGCTGCGCCTC	0.517000													9	69					0	0	0.435327	0	0
IL10RB	3588	broad.mit.edu	37	21	34655402	34655402	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:34655402C>G	ENST00000290200.2	+	5	610	c.502C>G	c.(502-504)Caa>Gaa	p.Q168E	AP000295.9_ENST00000433395.2_Missense_Mutation_p.F295L	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTACTAGTTTCAAATTACTCC	0.398000													7	52					0	0	0.278610	0	0
TMEM88	92162	broad.mit.edu	37	17	7758849	7758849	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:7758849C>T	ENST00000301599.6	+	2	307	c.297C>T	c.(295-297)ctC>ctT	p.L99L	TMEM88_ENST00000574668.1_Intron	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	99						integral to membrane				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				TCCTGCTCCTCGTGCCGCTGC	0.682000													25	136					0	0	0.706142	0	0
GINS1	9837	broad.mit.edu	37	20	25388508	25388508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:25388508G>A	ENST00000262460.4	+	1	146	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	GINS1_ENST00000484893.1_3'UTR|GINS1_ENST00000429262.2_Missense_Mutation_p.E18K	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	18					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TCGCGCGCCCGAAGGGCAACT	0.687000													9	53					0	0	0.457914	0	0
LARGE	9215	broad.mit.edu	37	22	34046608	34046608	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:34046608G>A	ENST00000354992.2	-	4	724	c.153C>T	c.(151-153)agC>agT	p.S51S	LARGE_ENST00000397394.2_Silent_p.S51S|LARGE_ENST00000402320.1_Silent_p.S51S|LARGE_ENST00000337431.2_Silent_p.S51S|LARGE_ENST00000437602.2_Silent_p.S51S	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	51					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGTACCTGGGGCTGTGTGCCT	0.652000													9	76					0	0	0.457914	0	0
TBC1D29	26083	broad.mit.edu	37	17	28890294	28890294	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:28890294G>A	ENST00000580161.1	+	6	2801	c.304G>A	c.(304-306)Gag>Aag	p.E102K	TBC1D29_ENST00000579181.1_Missense_Mutation_p.E102K|TBC1D29_ENST00000584297.1_3'UTR			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	102						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				GACAGCCTCAGAGAGCAGCAG	0.597000													6	45					0	0	0.248553	0	0
IL1B	3553	broad.mit.edu	37	2	113593149	113593149	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:113593149C>T	ENST00000263341.2	-	3	303	c.93G>A	c.(91-93)caG>caA	p.Q31Q	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	31					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TTACCTTCATCTGTTTAGGGC	0.423000													6	61					0	0	0.278610	0	0
FES	2242	broad.mit.edu	37	15	91433455	91433455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:91433455G>A	ENST00000328850.3	+	9	1325	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	FES_ENST00000394300.3_Missense_Mutation_p.E337K|FES_ENST00000414248.2_Missense_Mutation_p.E337K|FES_ENST00000394302.1_Missense_Mutation_p.E337K|FES_ENST00000444422.2_Missense_Mutation_p.E395K|FES_ENST00000450438.2_Missense_Mutation_p.E337K|FES_ENST00000448367.1_3'UTR	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	395					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCCCCGGCGAGCCCCCGCC	0.716000													13	79					0	0	0.479597	0	0
FAM208A	23272	broad.mit.edu	37	3	56657229	56657229	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:56657229G>C	ENST00000431842.2	-	17	4462	c.3538C>G	c.(3538-3540)Cag>Gag	p.Q1180E	FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000355628.5_Missense_Mutation_p.Q1556E|FAM208A_ENST00000493960.2_3'UTR	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1617										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAAAATGTCTGATGAGTGAGA	0.333000													6	46					0	0	0.248553	0	0
SYNE1	23345	broad.mit.edu	37	6	152651320	152651320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:152651320G>A	ENST00000367255.5	-	78	15101	c.14500C>T	c.(14500-14502)Cga>Tga	p.R4834*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R4834*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R4763*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R4581*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R4763*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4834					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)		ATGGTTACTCGTTTCAGTACA	0.498000										HNSCC(10;0.0054)			9	39					0	0	0.411799	0	0
FLG2	388698	broad.mit.edu	37	1	152325449	152325449	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152325449G>C	ENST00000388718.5	-	3	4885	c.4813C>G	c.(4813-4815)Caa>Gaa	p.Q1605E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1605							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCATGTTGAGATCCGGCT	0.512000													34	251					0	0	0.819951	0	0
POLR1A	25885	broad.mit.edu	37	2	86255054	86255054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:86255054C>T	ENST00000263857.6	-	33	5394	c.5016G>A	c.(5014-5016)atG>atA	p.M1672I	POLR1A_ENST00000409681.1_Missense_Mutation_p.M1611I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1672					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.M1672I(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTTCAAATGTCATCTGCTGTA	0.542000													11	95					0	0	0.411799	0	0
ESAM	90952	broad.mit.edu	37	11	124623758	124623758	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:124623758G>A	ENST00000278927.5	-	7	1086	c.957C>T	c.(955-957)ctC>ctT	p.L319L	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	319					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGGTGGCCGGAGGGCTCGTG	0.662000													6	64					0	0	0.278610	0	0
KIAA0100	9703	broad.mit.edu	37	17	26964034	26964034	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:26964034G>A	ENST00000528896.2	-	15	2000	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	KIAA0100_ENST00000544884.1_Silent_p.L499L|KIAA0100_ENST00000389003.3_Silent_p.L499L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	642						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGGAAAGGCTGAGCACTGGGG	0.547000													25	155					0	0	0.769981	0	0
TOM1L1	10040	broad.mit.edu	37	17	53014503	53014503	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:53014503C>A	ENST00000575882.1	+	10	1302	c.949C>A	c.(949-951)Ctc>Atc	p.L317I	TOM1L1_ENST00000536554.1_Missense_Mutation_p.L240I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.L205I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.L240I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.L317I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.L317I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.L310I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.L317I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	317					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ATCTCAAGATCTCCTCGACCT	0.433000													10	81					5.16669e-11	5.47995e-11	0.387290	1	0
TNN	63923	broad.mit.edu	37	1	175097777	175097777	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:175097777G>A	ENST00000239462.4	+	15	3338	c.3225G>A	c.(3223-3225)caG>caA	p.Q1075Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1075	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGTTCAGCAGAACAGCAATG	0.582000													80	197					0	0	0.870114	0	0
MBD5	55777	broad.mit.edu	37	2	149270460	149270460	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:149270460G>A	ENST00000407073.1	+	15	5432	c.4435G>A	c.(4435-4437)Gac>Aac	p.D1479N	MBD5_ENST00000404807.1_Missense_Mutation_p.D1712N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1479						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCCACAGGGTGACAGACAAAT	0.408000													5	73					0	0	0.217242	0	0
SPZ1	84654	broad.mit.edu	37	5	79616517	79616517	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:79616517C>G	ENST00000296739.4	+	1	728	c.483C>G	c.(481-483)atC>atG	p.I161M		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAGAAAATATCAGAGGACTTG	0.373000													4	35					0	0	0.217242	0	0
CACNA1D	776	broad.mit.edu	37	3	53844150	53844150	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:53844150C>G	ENST00000288139.4	+	48	6195	c.6077C>G	c.(6076-6078)tCa>tGa	p.S2026*	CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.S2006*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.S1982*|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTGGAGCAGTCAGAGGCCCTG	0.657000													6	83					0	0	0.248553	0	0
HCK	3055	broad.mit.edu	37	20	30681792	30681792	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:30681792G>A	ENST00000534862.1	+	12	1522	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	HCK_ENST00000375852.2_Missense_Mutation_p.E407K|HCK_ENST00000520553.1_Missense_Mutation_p.E386K|HCK_ENST00000518730.1_Missense_Mutation_p.E385K|HCK_ENST00000538448.1_Missense_Mutation_p.E386K|HCK_ENST00000375862.2_Missense_Mutation_p.E406K	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	407	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCGGGTCATTGAGGACAACGA	0.552000													17	213					0	0	0.608945	0	0
KRT6B	3854	broad.mit.edu	37	12	52845454	52845454	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:52845454C>G	ENST00000252252.3	-	1	456	c.409G>C	c.(409-411)Gag>Cag	p.E137Q		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	137	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.E137Q(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		ACAGTGACCTCTTGGATGCCT	0.642000													12	176					0	0	0.479597	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089176	76089176	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76089176C>T	ENST00000335749.4	+	15	4693	c.4124C>T	c.(4123-4125)tCa>tTa	p.S1375L	TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1378L|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1375L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1375L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1378L|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1378L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1378	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GATAAAATCTCAAATGGCTCT	0.512000													5	49					0	0	0.248553	0	0
PTPRK	5796	broad.mit.edu	37	6	128410865	128410865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:128410865C>A	ENST00000368227.3	-	8	1801	c.1435G>T	c.(1435-1437)Gaa>Taa	p.E479*	PTPRK_ENST00000368215.3_Nonsense_Mutation_p.E479*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E479*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E479*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E479*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E479*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E479*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	479	Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTGTCTCTTCACTCTCCTTC	0.408000													10	104					0.000151284	0.000155431	0.435327	1	0
ZNF12	7559	broad.mit.edu	37	7	6732258	6732258	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6732258G>A	ENST00000405858.1	-	5	856	c.315C>T	c.(313-315)ttC>ttT	p.F105F	ZNF12_ENST00000404360.1_Silent_p.F69F|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Silent_p.F105F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	105					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGTCTCAATGAACACAGTTT	0.363000													16	125					0	0	0.539581	0	0
RRP1B	23076	broad.mit.edu	37	21	45096684	45096684	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:45096684G>A	ENST00000340648.4	+	8	802	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	229					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TTTTGTGCCTGAAGAGACGAT	0.502000													8	95					0	0	0.361761	0	0
TAF11	6882	broad.mit.edu	37	6	34846498	34846498	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:34846498C>G	ENST00000361288.4	-	5	637		c.e5-1		TAF11_ENST00000420584.2_Splice_Site|UHRF1BP1_ENST00000452449.2_Intron	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa						positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						ACATCCAGTGCTAAACAGAGG	0.388000													5	44					0	0	0.217242	0	0
SPRR4	163778	broad.mit.edu	37	1	152944474	152944474	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152944474G>A	ENST00000328051.2	+	2	157	c.108G>A	c.(106-108)gaG>gaA	p.E36E		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	36	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATGTCAAGAGACATGTGCAC	0.592000													18	129					0	0	0.608945	0	0
FLNC	2318	broad.mit.edu	37	7	128490515	128490515	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:128490515G>A	ENST00000325888.8	+	32	5637	c.5376G>A	c.(5374-5376)gcG>gcA	p.A1792A	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.A1759A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1792					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCCCTTCGCGGTGCAGAAAG	0.607000													27	142					0	0	0.750413	0	0
LPPR3	79948	broad.mit.edu	37	19	814710	814710	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:814710G>A	ENST00000359894.2	-	6	702	c.639C>T	c.(637-639)ttC>ttT	p.F213F	LPPR3_ENST00000520876.3_Silent_p.F213F	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		213						integral to membrane	phosphatidate phosphatase activity										AGACCGCGGCGAAGGCTGACA	0.697000													11	90					0	0	0.435327	0	0
FXYD7	53822	broad.mit.edu	37	19	35642244	35642244	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:35642244C>T	ENST00000588265.1	+	3	204	c.149C>T	c.(148-150)cCa>cTa	p.P50L	FXYD7_ENST00000270310.2_Intron|FXYD7_ENST00000586063.1_Intron			P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	46						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AAGTGCGACCCATTCCTGGGC	0.537000													85	263					0	0	0.870114	0	0
UTRN	7402	broad.mit.edu	37	6	144858794	144858794	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:144858794G>A	ENST00000367545.3	+	43	6310	c.6310G>A	c.(6310-6312)Gag>Aag	p.E2104K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2104					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACAAAGGCTGAGCATGCTAT	0.368000													4	42					0	0	0.217242	0	0
OR4K15	81127	broad.mit.edu	37	14	20444469	20444469	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:20444469G>A	ENST00000305051.5	+	1	867	c.792G>A	c.(790-792)ttG>ttA	p.L264L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCCACATTGACTGCTCACA	0.463000													4	28					0	0	0.184627	0	0
S100A11	6282	broad.mit.edu	37	1	152006245	152006245	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152006245C>T	ENST00000271638.2	-	2	154	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	12					negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGATGCACCGCTCAGTCTC	0.458000													8	90					0	0	0.307466	0	0
TMEM123	114908	broad.mit.edu	37	11	102272700	102272700	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:102272700G>A	ENST00000398136.2	-	3	815	c.395C>T	c.(394-396)aCa>aTa	p.T132I	TMEM123_ENST00000361236.3_Missense_Mutation_p.T113I|TMEM123_ENST00000532161.1_Missense_Mutation_p.T44I|TMEM123_ENST00000525577.1_5'UTR	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	132	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TACGGTCATTGTGGATGTTGA	0.388000													16	140					0	0	0.592651	0	0
MYO16	23026	broad.mit.edu	37	13	109535458	109535458	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:109535458C>G	ENST00000356711.2	+	13	1537	c.1411C>G	c.(1411-1413)Cct>Gct	p.P471A	MYO16_ENST00000357550.2_Missense_Mutation_p.P471A|MYO16_ENST00000251041.5_Missense_Mutation_p.P471A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	471	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCGCTGCCTCCTCACCTCTT	0.562000													19	177					0	0	0.624587	0	0
TRMT13	54482	broad.mit.edu	37	1	100613836	100613836	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:100613836G>A	ENST00000370141.2	+	10	1210	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		AGAGCATGATGATGGAGGATA	0.388000													19	140					0	0	0.681144	0	0
NPFF	8620	broad.mit.edu	37	12	53900643	53900643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:53900643C>T	ENST00000609999.1	-	2	602	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	RP11-793H13.10_ENST00000591834.1_Silent_p.*464*|NPFF_ENST00000267017.3_Missense_Mutation_p.E87K			O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CTCAGCCATTCATTCCTCCAG	0.552000													31	195					0	0	0.812448	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987441	15987441	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15987441C>T	ENST00000345034.1	+	1	1078	c.1078C>T	c.(1078-1080)Cat>Tat	p.H360Y	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	360					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGAACTTCATGAACTTTT	0.438000													7	25					0	0	0.361761	0	0
SPON1	10418	broad.mit.edu	37	11	14280908	14280908	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14280908G>A	ENST00000310358.7	+	0	2110							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGTCCCGGGAGAGGTATGTGA	0.632000													7	46					0	0	0.387290	0	0
NBEAL1	65065	broad.mit.edu	37	2	204078320	204078320	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:204078320C>G	ENST00000449802.1	+	54	8260	c.7927C>G	c.(7927-7929)Ctt>Gtt	p.L2643V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2643							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCCATATTCTTGTAGGTTT	0.398000													30	115					0	0	0.840704	0	0
DNAH17	8632	broad.mit.edu	37	17	76540022	76540022	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76540022C>T	ENST00000389840.5	-	17	2573	c.2449G>A	c.(2449-2451)Gac>Aac	p.D817N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D817N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCATCCAAGTCTAACAGGGCC	0.502000													22	125					0	0	0.639603	0	0
ZNF608	57507	broad.mit.edu	37	5	124036729	124036729	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:124036729G>A	ENST00000306315.5	-	2	1575	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	380						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CATGCCACACGATCCCTTCCA	0.443000													3	71					0	0	0.150653	0	0
SUSD2	56241	broad.mit.edu	37	22	24579478	24579478	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:24579478C>G	ENST00000358321.3	+	3	564	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	101					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGGACAGCATCCAGACCCTCG	0.627000													30	256					0	0	0.834066	0	0
MPND	84954	broad.mit.edu	37	19	4345945	4345945	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4345945C>G	ENST00000599840.1	+	3	533	c.498C>G	c.(496-498)caC>caG	p.H166Q	MPND_ENST00000262966.8_Missense_Mutation_p.H166Q|MPND_ENST00000359935.4_Missense_Mutation_p.H166Q			Q8N594	MPND_HUMAN	MPN domain containing	166							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGGCTGCACCAGCTGCACA	0.632000													3	34					0	0	0.115264	0	0
MFRP	83552	broad.mit.edu	37	11	119212284	119212284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:119212284C>T	ENST00000555262.1	-	13	1873	c.1714G>A	c.(1714-1716)Gac>Aac	p.D572N	MFRP_ENST00000530681.1_Missense_Mutation_p.D572N|MFRP_ENST00000449574.2_Missense_Mutation_p.D572N|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.D454N	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein									p.D572Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCTTCCAGGTCAGCTGCCTCT	0.662000													9	54					0	0	0.411799	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603754	111603754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:111603754C>G	ENST00000431670.2	+	2	1241	c.830C>G	c.(829-831)tCt>tGt	p.S277C	PHLDB2_ENST00000393923.3_Missense_Mutation_p.S304C|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S277C|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S277C|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S277C|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S277C|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S277C	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	277						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCAAGAAACTCTCTGGGCAAT	0.473000													8	21					0	0	0.335167	0	0
PRKDC	5591	broad.mit.edu	37	8	48690357	48690357	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:48690357C>T	ENST00000314191.2	-	85	11985	c.11929G>A	c.(11929-11931)Ggc>Agc	p.G3977S	PRKDC_ENST00000338368.3_Missense_Mutation_p.G3946S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3978	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TACATAAGGCCCGTTTCTTTC	0.498000								Non-homologous end-joining					13	102					0	0	0.435327	0	0
TPR	7175	broad.mit.edu	37	1	186322838	186322838	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:186322838C>T	ENST00000367478.4	-	18	2612	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGCTAGCTTCTCATTTGCTC	0.363000			T	NTRK1	papillary thyroid								17	135					0	0	0.639603	0	0
CORO6	84940	broad.mit.edu	37	17	27943163	27943163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:27943163C>T	ENST00000345068.5	-	10	1306	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	CORO6_ENST00000584969.1_Missense_Mutation_p.D365N|CORO6_ENST00000388767.3_Missense_Mutation_p.D365N|CORO6_ENST00000456796.3_Missense_Mutation_p.D131N|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000445145.2_Missense_Mutation_p.D365N|CORO6_ENST00000580212.1_Missense_Mutation_p.D325N|RP11-68I3.2_ENST00000581474.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	365					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CCTGGCGTATCCGGGTACAGA	0.672000													14	96					0	0	0.479597	0	0
PLAUR	5329	broad.mit.edu	37	19	44160637	44160637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:44160637C>T	ENST00000221264.4	-	4	892	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	PLAUR_ENST00000340093.3_Missense_Mutation_p.E156K|PLAUR_ENST00000339082.3_Missense_Mutation_p.E156K|PLAUR_ENST00000601723.1_Missense_Mutation_p.E156K	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	156	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCACCTTCTTCACCTTCCTGG	0.577000													37	295					0	0	0.840704	0	0
OR5K4	403278	broad.mit.edu	37	3	98073347	98073347	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:98073347C>G	ENST00000354924.2	+	1	650	c.650C>G	c.(649-651)tCt>tGt	p.S217C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTCTTGATCTCTTATCTCTGC	0.353000													3	22					0	0	0.115264	0	0
AKAP6	9472	broad.mit.edu	37	14	33292806	33292806	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:33292806G>C	ENST00000280979.4	+	13	5957	c.5787G>C	c.(5785-5787)gaG>gaC	p.E1929D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1929					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGATTTCAGAGAGTGAGCATT	0.373000													6	28					0	0	0.217242	0	0
EP300	2033	broad.mit.edu	37	22	41562613	41562613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:41562613G>A	ENST00000263253.7	+	23	5036	c.3817G>A	c.(3817-3819)Gat>Aat	p.D1273N		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1273					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATTCGTCTGTGATGGCTGTTT	0.289000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				3	18					0	0	0.150653	0	0
DSCAM	1826	broad.mit.edu	37	21	41457556	41457556	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:41457556C>T	ENST00000400454.1	-	23	4582	c.4105G>A	c.(4105-4107)Gaa>Aaa	p.E1369K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1369	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAATAATTTCATCAGATCCC	0.378000													15	68					0	0	0.592651	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286739	55286739	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55286739G>A	ENST00000336077.6	+	4	533	c.493G>A	c.(493-495)Gag>Aag	p.E165K	KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.E165K|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	165	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CAGGGAAGGGGAGGCCCATGA	0.612000													23	54					0	0	0.706142	0	0
TMEM164	84187	broad.mit.edu	37	X	109416484	109416484	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:109416484G>A	ENST00000372073.1	+	7	1035	c.699G>A	c.(697-699)gtG>gtA	p.V233V	TMEM164_ENST00000372072.3_Silent_p.V84V|TMEM164_ENST00000288381.4_Silent_p.V194V|TMEM164_ENST00000372068.2_Silent_p.V233V|TMEM164_ENST00000464177.1_3'UTR			Q5U3C3	TM164_HUMAN	transmembrane protein 164	233						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TCACCGAAGTGAATTTGAACA	0.557000													23	79					0	0	0.706142	0	0
CD163L1	283316	broad.mit.edu	37	12	7527246	7527246	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:7527246C>G	ENST00000313599.3	-	13	3258	c.3201G>C	c.(3199-3201)ctG>ctC	p.L1067L	CD163L1_ENST00000396630.1_Silent_p.L1067L|CD163L1_ENST00000416109.2_Silent_p.L1077L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1067	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.L1067L(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GGGCATCGCTCAGGTCCCAGC	0.622000											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	81					0	0	0.457914	0	0
RXFP3	51289	broad.mit.edu	37	5	33937059	33937059	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:33937059G>C	ENST00000330120.3	+	1	569	c.214G>C	c.(214-216)Gag>Cag	p.E72Q		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	72						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGGCGGGGCAGAGAGCGCGGA	0.692000													10	142					0	0	0.411799	0	0
MMP20	9313	broad.mit.edu	37	11	102479695	102479695	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:102479695C>T	ENST00000260228.2	-	5	796	c.784G>A	c.(784-786)Gat>Aat	p.D262N	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	262					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCTTTCACATCATCTTTGGGG	0.468000													11	119					0	0	0.520397	0	0
DESI2	51029	broad.mit.edu	37	1	244868944	244868944	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:244868944G>A	ENST00000302550.11	+	5	817	c.438G>A	c.(436-438)ccG>ccA	p.P146P	DESI2_ENST00000263831.7_Silent_p.P113P	NM_016076.3	NP_057160.2	Q9BSY9	PPDE1_HUMAN	desumoylating isopeptidase 2	146	PPPDE peptidase.																GTTGCCTCCCGAAGGAGTGGC	0.537000													38	129					0	0	0.870114	0	0
PDCD7	10081	broad.mit.edu	37	15	65426045	65426045	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:65426045G>T	ENST00000204549.4	-	1	129	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	25	Pro-rich.				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCGGACAGCCGAAAGGAGCAG	0.726000													4	6					0.000602214	0.000616307	0.184627	1	0
ZNF347	84671	broad.mit.edu	37	19	53643596	53643596	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:53643596C>G	ENST00000452676.2	-	5	2914	c.2488G>C	c.(2488-2490)Gag>Cag	p.E830Q	ZNF347_ENST00000334197.7_Missense_Mutation_p.E829Q|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.E830Q	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GGTTTGAACTCTGACTTTAGA	0.398000													29	112					0	0	0.788014	0	0
PCDH12	51294	broad.mit.edu	37	5	141325351	141325351	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:141325351C>T	ENST00000231484.3	-	4	4360	c.3150G>A	c.(3148-3150)ctG>ctA	p.L1050L		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1050					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGGCGCTCAGCCGGTCCA	0.677000													16	116					0	0	0.557998	0	0
RFX6	222546	broad.mit.edu	37	6	117245835	117245835	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:117245835C>G	ENST00000332958.2	+	15	1575	c.1559C>G	c.(1558-1560)tCt>tGt	p.S520C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	520					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.S520Y(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAACAAGGTTCTTTTCATTTG	0.393000													5	48					0	0	0.217242	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													3	121					0	0	0.115264	0	0
PPL	5493	broad.mit.edu	37	16	4934113	4934113	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4934113C>G	ENST00000345988.2	-	22	4632	c.4543G>C	c.(4543-4545)Gag>Cag	p.E1515Q	PPL_ENST00000590782.2_Missense_Mutation_p.E1513Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1515					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTCTGGATCTCTTGCTCGGTG	0.637000													8	48					0	0	0.307466	0	0
MBOAT7	79143	broad.mit.edu	37	19	54692090	54692090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:54692090G>A	ENST00000245615.1	-	3	667	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000391754.1_Missense_Mutation_p.L63F|MBOAT7_ENST00000431666.2_Missense_Mutation_p.P32L|MBOAT7_ENST00000338624.6_Missense_Mutation_p.P32L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	63					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCTGAATGAGGGCCCAGGTC	0.602000													10	158					0	0	0.411799	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671954	44671954	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:44671954C>T	ENST00000243964.3	+	9	1327	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	SLC12A5_ENST00000454036.2_Missense_Mutation_p.S433L	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	433					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TACTTCCCCTCAGTCACAGGT	0.522000													43	385					0	0	0.870114	0	0
TAAR8	83551	broad.mit.edu	37	6	132874133	132874133	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:132874133C>T	ENST00000275200.1	+	1	302	c.302C>T	c.(301-303)gCc>gTc	p.A101V		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	101						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TATTTTGGAGCCAAATTTTGT	0.468000													9	55					0	0	0.307466	0	0
FOLR2	2350	broad.mit.edu	37	11	71932542	71932542	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:71932542C>T	ENST00000298223.6	+	5	691	c.504C>T	c.(502-504)ctC>ctT	p.L168L	FOLR2_ENST00000454954.2_Silent_p.L127L|FOLR2_ENST00000449475.2_Intron	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	168					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	CTGGGGCTCTCTGCCGCACCT	0.597000													38	316					0	0	0.870114	0	0
CASS4	57091	broad.mit.edu	37	20	55033555	55033555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:55033555C>T	ENST00000371336.3	+	6	2314	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	CASS4_ENST00000360314.3_Nonsense_Mutation_p.Q705*|CASS4_ENST00000434344.1_Nonsense_Mutation_p.Q268*	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	705					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GATCATCACTCAGAGCAAGCT	0.597000													27	210					0	0	0.750413	0	0
ELL	8178	broad.mit.edu	37	19	18632761	18632761	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18632761C>T	ENST00000262809.4	-	1	176	c.105G>A	c.(103-105)ctG>ctA	p.L35L		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	35					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CGAAGGCCCTCAGGGCACTGT	0.701000			T	MLL	AL								6	24					0	0	0.278610	0	0
HRNR	388697	broad.mit.edu	37	1	152193080	152193080	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152193080G>C	ENST00000368801.2	-	3	1100	c.1025C>G	c.(1024-1026)tCa>tGa	p.S342*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	342					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTGGCCTGAGCCAGACTC	0.582000													5	97					0	0	0.278610	0	0
TUBB3	10381	broad.mit.edu	37	16	90002120	90002120	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:90002120G>A	ENST00000304984.5	+	3	3340	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	TUBB3_ENST00000556922.1_Missense_Mutation_p.E768K|TUBB3_ENST00000554444.1_Missense_Mutation_p.E349K|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Missense_Mutation_p.E421K			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	421					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCTGGTGTCCGAGTACCAGCA	0.632000													19	106					0	0	0.667858	0	0
NOD1	10392	broad.mit.edu	37	7	30492526	30492526	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:30492526G>A	ENST00000222823.4	-	6	1032	c.507C>T	c.(505-507)ttC>ttT	p.F169F	NOD1_ENST00000423334.2_Silent_p.F169F	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	169					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCTCATTGCTGAAGCCAACCA	0.587000													18	169					0	0	0.624587	0	0
LRP1B	53353	broad.mit.edu	37	2	141093288	141093288	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:141093288C>T	ENST00000389484.3	-	78	12983	c.12012G>A	c.(12010-12012)ctG>ctA	p.L4004L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4004					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L4004L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGAGTACCTCAGACTGGTCC	0.458000										TSP Lung(27;0.18)			8	33					0	0	0.335167	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767323	41767323	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:41767323G>C	ENST00000379483.3	-	1	1379	c.1071C>G	c.(1069-1071)ctC>ctG	p.L357L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	357							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GGTCATAGCAGAGAAAGGGAT	0.502000													3	38					0	0	0.307466	0	0
REL	5966	broad.mit.edu	37	2	61148963	61148963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:61148963G>A	ENST00000295025.8	+	11	1473	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	REL_ENST00000394479.3_Missense_Mutation_p.E353K	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAGTCAAGCAGAATCCTACTA	0.453000			A		Hodgkin Lymphoma								9	82					0	0	0.335167	0	0
SEC16B	89866	broad.mit.edu	37	1	177937001	177937001	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:177937001G>C	ENST00000308284.6	-	2	205	c.116C>G	c.(115-117)tCt>tGt	p.S39C	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S39C	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	39	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ATTGTGCCAAGAGTGAGGGAC	0.607000													20	150					0	0	0.624587	0	0
FZD7	8324	broad.mit.edu	37	2	202900897	202900897	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:202900897G>C	ENST00000286201.1	+	1	1588	c.1527G>C	c.(1525-1527)aaG>aaC	p.K509N		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	509					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						AGACGTGCAAGAGCTATGCCG	0.627000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	125					0	0	0.654019	0	0
ZNF684	127396	broad.mit.edu	37	1	41012608	41012608	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:41012608C>T	ENST00000372699.3	+	5	864	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CCTTGCAACTCATCAGAAAAT	0.408000													8	65					0	0	0.307466	0	0
SNX25	83891	broad.mit.edu	37	4	186274687	186274687	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:186274687G>A	ENST00000504273.1	+	15	2317	c.2023G>A	c.(2023-2025)Gat>Aat	p.D675N	SNX25_ENST00000264694.8_Missense_Mutation_p.D675N|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	675					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGATGATGTGGATGGGAGGAA	0.418000													10	72					0	0	0.387290	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288992	98288992	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:98288992C>T	ENST00000322128.3	-	1	1184	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	361					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	p.E361*(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TTGTCAGACTCAATGGAGCTG	0.478000													19	153					0	0	0.592651	0	0
MTG2	26164	broad.mit.edu	37	20	60768599	60768599	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:60768599C>T	ENST00000370823.3	+	2	141	c.123C>T	c.(121-123)ccC>ccT	p.P41P	MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Silent_p.P41P	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		GGGCTTCTCCCAGGCTGCTCT	0.617000													12	81					0	0	0.411799	0	0
TOR2A	27433	broad.mit.edu	37	9	130494388	130494388	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:130494388G>A	ENST00000373284.5	-	5	937	c.891C>T	c.(889-891)ttC>ttT	p.F297F	TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000336067.6_3'UTR	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	297					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						CTTCAGGGAAGAAGGTGGTGC	0.637000													28	117					0	0	0.740014	0	0
RP1L1	94137	broad.mit.edu	37	8	10468839	10468839	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:10468839G>A	ENST00000382483.3	-	4	2992	c.2769C>T	c.(2767-2769)tcC>tcT	p.S923S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	923					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTTCTCCTCGGACAGCCCCC	0.697000													7	44					0	0	0.278610	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652246	121652246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:121652246G>A	ENST00000393386.2	+	12	3557	c.3146G>A	c.(3145-3147)gGa>gAa	p.G1049E	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1049					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATAATATATGGAAATGAGACT	0.333000													4	20					0	0	0.184627	0	0
ARMC12	221481	broad.mit.edu	37	6	35706280	35706280	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:35706280C>T	ENST00000373866.3	+	3	451	c.429C>T	c.(427-429)ttC>ttT	p.F143F	ARMC12_ENST00000373869.3_Silent_p.F143F|ARMC12_ENST00000288065.2_Silent_p.F170F			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	143							binding										TCAGAAAATTCAGGCTCAAAA	0.458000													9	97					0	0	0.411799	0	0
CIAO1	9391	broad.mit.edu	37	2	96932160	96932160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:96932160G>A	ENST00000488633.1	+	1	291	c.72G>A	c.(70-72)tgG>tgA	p.W24*	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	24					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						TCCTGGCCTGGAACCCCGCGG	0.741000													8	27					0	0	0.307466	0	0
TIMELESS	8914	broad.mit.edu	37	12	56817142	56817142	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56817142G>C	ENST00000229201.4	-	18	2359	c.2205C>G	c.(2203-2205)ctC>ctG	p.L735L	TIMELESS_ENST00000553532.1_Silent_p.L736L|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	736					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTCCATTTTGAGGTCATGGG	0.507000													6	109					0	0	0.248553	0	0
EMILIN1	11117	broad.mit.edu	37	2	27308605	27308605	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27308605C>T	ENST00000380320.4	+	8	3272	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	925	C1q.				cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTGGGCACCGGCACGAGAA	0.667000													14	124					0	0	0.479597	0	0
CIC	23152	broad.mit.edu	37	19	42798383	42798383	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42798383C>A	ENST00000572681.2	+	19	7040	c.6972C>A	c.(6970-6972)tcC>tcA	p.S2324S	CIC_ENST00000575354.2_Silent_p.S1418S|CIC_ENST00000160740.3_Silent_p.S1416S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAAGACGCTCCAGCTGCAGCT	0.617000			"""Mis, F, S"""		oligodendroglioma								39	127					2.24893e-16	2.41654e-16	0.847076	1	0
UNC79	57578	broad.mit.edu	37	14	94088398	94088398	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:94088398C>T	ENST00000553484.1	+	31	5039	c.4885C>T	c.(4885-4887)Ctg>Ttg	p.L1629L	UNC79_ENST00000256339.4_Silent_p.L1430L|UNC79_ENST00000393151.2_Silent_p.L1607L|UNC79_ENST00000555664.1_Silent_p.L1607L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1607						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGATTTAGATCTGATAGATCT	0.473000													12	72					0	0	0.457914	0	0
KIAA1377	57562	broad.mit.edu	37	11	101828992	101828992	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:101828992G>C	ENST00000263468.8	+	5	870	c.600G>C	c.(598-600)atG>atC	p.M200I	KIAA1377_ENST00000537689.1_Start_Codon_SNP_p.M1I	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	200							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGAAAGAAATGAATGAAAACA	0.378000													16	117					0	0	0.500413	0	0
DIDO1	11083	broad.mit.edu	37	20	61512150	61512150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:61512150C>T	ENST00000266070.4	-	16	5483	c.5158G>A	c.(5158-5160)Gag>Aag	p.E1720K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1720K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1720					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTCCCCCTCTGTTTCACCT	0.647000													20	241					0	0	0.717897	0	0
NPAS2	4862	broad.mit.edu	37	2	101554280	101554280	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:101554280C>T	ENST00000335681.5	+	5	624	c.339C>T	c.(337-339)atC>atT	p.I113I	NPAS2_ENST00000542504.1_Silent_p.I178I|NPAS2_ENST00000486017.1_3'UTR	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	113	PAS 1.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGACAGTATCACGCCTCTCC	0.453000													31	178					0	0	0.840704	0	0
LAMB1	3912	broad.mit.edu	37	7	107599732	107599732	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:107599732C>T	ENST00000393561.1	-	18	2908	c.2724G>A	c.(2722-2724)ttG>ttA	p.L908L	LAMB1_ENST00000222399.6_Silent_p.L884L			P07942	LAMB1_HUMAN	laminin, beta 1	884	Laminin EGF-like 8.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGGCAGTTCAAGCACTCCC	0.542000													35	238					0	0	0.864702	0	0
HLCS	3141	broad.mit.edu	37	21	38309074	38309074	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:38309074G>C	ENST00000399120.1	-	5	1901	c.671C>G	c.(670-672)tCc>tGc	p.S224C	HLCS_ENST00000336648.4_Missense_Mutation_p.S224C	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	224					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TTCGGGAATGGACTCCCTGGT	0.522000													31	83					0	0	0.779181	0	0
ZNF341	84905	broad.mit.edu	37	20	32354821	32354821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:32354821C>T	ENST00000375200.1	+	9	1752	c.1387C>T	c.(1387-1389)Cac>Tac	p.H463Y	ZNF341_ENST00000342427.2_Missense_Mutation_p.H456Y	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCTCAAGTCTCACATGACCCA	0.562000													45	444					0	0	0.870114	0	0
GPN2	54707	broad.mit.edu	37	1	27216180	27216180	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:27216180G>A	ENST00000374135.4	-	1	608	c.408C>T	c.(406-408)ctC>ctT	p.L136L		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	136							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GACGCACCCTGAGGTCCCACT	0.642000													23	164					0	0	0.693898	0	0
UBA52	7311	broad.mit.edu	37	19	18684188	18684188	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18684188C>G	ENST00000442744.2	+	2	136	c.78C>G	c.(76-78)gtC>gtG	p.V26V	UBA52_ENST00000595158.1_Silent_p.V26V|UBA52_ENST00000599595.1_Silent_p.V26V|UBA52_ENST00000597451.1_Silent_p.V26V|UBA52_ENST00000598780.1_Silent_p.V26V|UBA52_ENST00000430157.2_Silent_p.V26V|UBA52_ENST00000595683.1_Silent_p.V26V|UBA52_ENST00000599551.1_Silent_p.V26V|UBA52_ENST00000596304.1_Silent_p.V26V|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000596273.1_Silent_p.V26V	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	26	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TTGAGAATGTCAAAGCCAAAA	0.552000													8	47					0	0	0.361761	0	0
SYNPO2	171024	broad.mit.edu	37	4	119947939	119947939	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:119947939G>A	ENST00000307142.4	+	3	611	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SYNPO2_ENST00000434046.2_Missense_Mutation_p.E139K|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.E139K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	139						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGTCAAGACTGAAGTTCCCCT	0.542000													7	41					0	0	0.335167	0	0
NLRP7	199713	broad.mit.edu	37	19	55452917	55452917	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55452917C>T	ENST00000588756.1	-	4	649	c.163G>A	c.(163-165)Gca>Aca	p.A55T	NLRP7_ENST00000328092.5_Missense_Mutation_p.A55T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A55T|NLRP7_ENST00000446217.1_Missense_Mutation_p.A83T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A55T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A55T|NLRP7_ENST00000590030.1_Missense_Mutation_p.A55T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	55	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGAATTTCTGCCAGTTTCTTG	0.443000													3	70					0	0	0.184627	0	0
SDAD1	55153	broad.mit.edu	37	4	76882204	76882204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:76882204G>A	ENST00000356260.5	-	16	1451	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Nonsense_Mutation_p.Q408*	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	445					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCAGCATCTGAGGATTCAGT	0.363000													14	99					0	0	0.557998	0	0
CPNE1	8904	broad.mit.edu	37	20	34220496	34220496	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:34220496C>A	ENST00000317619.3	-	5	646	c.252G>T	c.(250-252)aaG>aaT	p.K84N	CPNE1_ENST00000352393.4_Missense_Mutation_p.K84N|CPNE1_ENST00000397446.1_Missense_Mutation_p.K84N|RP1-309K20.6_ENST00000541176.2_3'UTR|CPNE1_ENST00000317677.5_Missense_Mutation_p.K89N|CPNE1_ENST00000397442.1_Missense_Mutation_p.K84N|CPNE1_ENST00000397445.1_Missense_Mutation_p.K84N|CPNE1_ENST00000397443.1_Missense_Mutation_p.K84N			Q99829	CPNE1_HUMAN	copine I	84	C2 1.				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)			GCTCTGGCGTCTTGTTGTCTA	0.512000													26	188					2.47316e-13	2.63804e-13	0.779181	1	0
AEBP2	121536	broad.mit.edu	37	12	19593295	19593295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:19593295C>A	ENST00000266508.9	+	1	663	c.662C>A	c.(661-663)tCg>tAg	p.S221*	AEBP2_ENST00000541908.1_Intron|AEBP2_ENST00000398864.3_Nonsense_Mutation_p.S221*	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	221	Interaction with RBBP4.|Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					CGCATGGACTCGGAGGACAGG	0.677000													5	68					8.12818e-05	8.36406e-05	0.248553	1	0
USP29	57663	broad.mit.edu	37	19	57640824	57640824	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57640824G>C	ENST00000254181.4	+	4	1235	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	USP29_ENST00000598197.1_Missense_Mutation_p.E261Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	261					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGGAACCAGAGCACAGCCA	0.478000													4	74					0	0	0.184627	0	0
MYOM1	8736	broad.mit.edu	37	18	3131437	3131437	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:3131437G>C	ENST00000400569.3	-	17	2775	c.2442C>G	c.(2440-2442)gtC>gtG	p.V814V	MYOM1_ENST00000261606.7_Silent_p.V814V|MYOM1_ENST00000356443.4_Silent_p.V814V			P52179	MYOM1_HUMAN	myomesin 1	814	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGCTGCATTGACTGCTCTGA	0.378000													6	25					0	0	0.278610	0	0
PPFIA3	8541	broad.mit.edu	37	19	49652018	49652018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:49652018G>A	ENST00000334186.4	+	25	3456	c.3107G>A	c.(3106-3108)cGa>cAa	p.R1036Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R1027Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1036						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACCCAGATCCGAGGTGAGTAG	0.587000													5	45					0	0	0.217242	0	0
CAMK2B	816	broad.mit.edu	37	7	44281927	44281927	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:44281927C>T	ENST00000395749.2	-	10	785	c.709G>A	c.(709-711)Gag>Aag	p.E237K	CAMK2B_ENST00000350811.3_Missense_Mutation_p.E237K|CAMK2B_ENST00000353625.4_Missense_Mutation_p.E237K|CAMK2B_ENST00000440254.2_Missense_Mutation_p.E237K|CAMK2B_ENST00000457475.1_Missense_Mutation_p.E237K|CAMK2B_ENST00000347193.4_Missense_Mutation_p.E237K|CAMK2B_ENST00000502837.2_Missense_Mutation_p.E108K|CAMK2B_ENST00000258682.6_Missense_Mutation_p.E237K|CAMK2B_ENST00000395747.2_Missense_Mutation_p.E237K|CAMK2B_ENST00000346990.4_Missense_Mutation_p.E237K|CAMK2B_ENST00000358707.3_Missense_Mutation_p.E237K	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	237	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GTGTCCCACTCAGGGGACGGG	0.607000													16	127					0	0	0.539581	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61300307	61300307	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:61300307C>T	ENST00000217159.1	+	11	2107	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Silent_p.F634F	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	634					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCATCGCCTTCGGCTGGGTGA	0.657000											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	83					0	0	0.435327	0	0
DGKK	139189	broad.mit.edu	37	X	50129585	50129585	+	RNA	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:50129585C>G	ENST00000376025.2	-	0	2178							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAGTCACTCTATATAGAAA	0.483000													2	9					0	0	0.115264	0	0
TBC1D4	9882	broad.mit.edu	37	13	75861065	75861065	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:75861065C>G	ENST00000377636.3	-	21	4106	c.3760G>C	c.(3760-3762)Gaa>Caa	p.E1254Q	TBC1D4_ENST00000425511.1_Missense_Mutation_p.E418Q|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E1246Q|TBC1D4_ENST00000377625.2_Missense_Mutation_p.E1191Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1254						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCCATTTTTTCTTGTTCCAGG	0.453000													4	40					0	0	0.217242	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10576009	10576009	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:10576009G>A	ENST00000396560.2	+	12	2179	c.1952G>A	c.(1951-1953)aGa>aAa	p.R651K	ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R651K|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.R195K|ATF7IP2_ENST00000396559.1_3'UTR	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	651	Fibronectin type-III.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GCTTCCAACAGATACTATTTT	0.338000													7	47					0	0	0.307466	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111755015	111755015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:111755015G>C	ENST00000374595.4	-	3	495	c.416C>G	c.(415-417)aCa>aGa	p.T139R	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.T139R|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.T139R|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.T139R			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	139					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TATCACTCCTGTTTTGTCTGT	0.378000													3	27					0	0	0.150653	0	0
GATA1	2623	broad.mit.edu	37	X	48650546	48650546	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650546C>A	ENST00000376670.3	+	3	627	c.516C>A	c.(514-516)ttC>ttA	p.F172L	GATA1_ENST00000376665.3_Missense_Mutation_p.F172L	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	172					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CCAGTACCTTCTTTTCTCCCA	0.567000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								12	33					9.31168e-06	9.65002e-06	0.435327	1	0
PARP4	143	broad.mit.edu	37	13	25077788	25077788	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:25077788G>C	ENST00000381989.3	-	2	232	c.127C>G	c.(127-129)Cct>Gct	p.P43A		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	43	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AATACCTGAGGATTTAACGAA	0.398000													7	65					0	0	0.361761	0	0
INSR	3643	broad.mit.edu	37	19	7166277	7166277	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:7166277G>C	ENST00000341500.5	-	8	1788	c.1749C>G	c.(1747-1749)ctC>ctG	p.L583L	INSR_ENST00000302850.5_Silent_p.L583L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	583					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCAGGGCTTGAGACCCCGCA	0.557000													8	70					0	0	0.307466	0	0
ZNF791	163049	broad.mit.edu	37	19	12740000	12740000	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12740000G>A	ENST00000343325.4	+	4	1819	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.E444K|ZNF791_ENST00000458122.3_Missense_Mutation_p.E521K|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GAAACCTCTTGAATGTAAGCA	0.353000													13	46					0	0	0.500413	0	0
HLTF	6596	broad.mit.edu	37	3	148773120	148773120	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:148773120G>C	ENST00000310053.5	-	14	1636	c.1443C>G	c.(1441-1443)atC>atG	p.I481M	HLTF_ENST00000392912.2_Missense_Mutation_p.I481M|HLTF_ENST00000494055.1_Missense_Mutation_p.I481M|HLTF_ENST00000465259.1_Missense_Mutation_p.I480M	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	481	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAAGCGGACAGATGATCAGTG	0.363000													10	62					0	0	0.457914	0	0
ARMC5	79798	broad.mit.edu	37	16	31473868	31473868	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31473868C>T	ENST00000457010.2	+	3	1701	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_Missense_Mutation_p.R366C|ARMC5_ENST00000268314.4_Missense_Mutation_p.R334C|ARMC5_ENST00000408912.3_Missense_Mutation_p.R429C|ARMC5_ENST00000563544.1_Missense_Mutation_p.R334C	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	334							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCTCCGGCAGCGCCGGGATCC	0.647000													16	121					0	0	0.575678	0	0
PPL	5493	broad.mit.edu	37	16	4934921	4934921	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4934921C>T	ENST00000345988.2	-	22	3824	c.3735G>A	c.(3733-3735)gaG>gaA	p.E1245E	PPL_ENST00000590782.2_Silent_p.E1243E	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1245					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAAGCTCCTTCTCCATCTCAG	0.532000													10	70					0	0	0.361761	0	0
ZNF165	7718	broad.mit.edu	37	6	28056346	28056346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:28056346G>C	ENST00000377325.1	+	4	1112	c.556G>C	c.(556-558)Gag>Cag	p.E186Q		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	186					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTAGATAATGAGAGTGAAAA	0.318000													3	30					0	0	0.150653	0	0
NUP210	23225	broad.mit.edu	37	3	13401905	13401905	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:13401905G>A	ENST00000254508.5	-	15	2101	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	673					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGACGGCTCGAGGATCCAAG	0.562000													37	40					0	0	0.819951	0	0
GCDH	2639	broad.mit.edu	37	19	13007041	13007041	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:13007041G>A	ENST00000222214.5	+	8	869	c.658G>A	c.(658-660)Gat>Aat	p.D220N	GCDH_ENST00000457854.1_Missense_Mutation_p.D220N|GCDH_ENST00000591470.1_Missense_Mutation_p.D220N|GCDH_ENST00000422947.2_Missense_Mutation_p.D176N			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	220					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GCCTATGGCCGATCTGTTTGT	0.622000													38	182					0	0	0.859065	0	0
PAF1	54623	broad.mit.edu	37	19	39879261	39879261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39879261C>T	ENST00000221265.3	-	10	1126	c.796G>A	c.(796-798)Gag>Aag	p.E266K	PAF1_ENST00000221266.7_Missense_Mutation_p.E233K|PAF1_ENST00000595564.1_Missense_Mutation_p.E256K	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	266					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTCAACGTCTCTTCTACAGGC	0.512000													16	68					0	0	0.520397	0	0
PLK4	10733	broad.mit.edu	37	4	128811324	128811324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:128811324G>C	ENST00000270861.5	+	7	2037	c.1763G>C	c.(1762-1764)aGa>aCa	p.R588T	PLK4_ENST00000514379.1_Missense_Mutation_p.R547T|PLK4_ENST00000513090.1_Missense_Mutation_p.R556T|PLK4_ENST00000515069.1_Missense_Mutation_p.R510T|PLK4_ENST00000507249.1_Missense_Mutation_p.R554T	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	588					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CGTACATTAAGAAGCATTACA	0.393000													8	40					0	0	0.335167	0	0
CLASP2	23122	broad.mit.edu	37	3	33558526	33558526	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:33558526C>T	ENST00000399362.4	-	35	4302	c.3949G>A	c.(3949-3951)Gaa>Aaa	p.E1317K	CLASP2_ENST00000480013.1_Missense_Mutation_p.E1097K|CLASP2_ENST00000359576.5_Missense_Mutation_p.E1309K|CLASP2_ENST00000307312.7_Missense_Mutation_p.E799K|CLASP2_ENST00000461133.3_Missense_Mutation_p.E1077K|CLASP2_ENST00000468888.2_Missense_Mutation_p.E1318K|CLASP2_ENST00000539981.1_3'UTR	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1319										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						TTGAAGTGTTCATCCCAAACA	0.363000													16	58					0	0	0.654019	0	0
CCZ1B	221960	broad.mit.edu	37	7	6854450	6854450	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6854450C>G	ENST00000316731.8	-	8	1297	c.725G>C	c.(724-726)aGa>aCa	p.R242T	CCZ1B_ENST00000538180.1_Missense_Mutation_p.R99T	NM_198097.3	NP_932765.1	P86790	CCZ1L_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	242						lysosomal membrane											GTATAAAATTCTCATGTCATC	0.438000													17	201					0	0	0.624587	0	0
LPP	4026	broad.mit.edu	37	3	188327106	188327106	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:188327106T>C	ENST00000312675.4	+	6	833	c.587T>C	c.(586-588)aTc>aCc	p.I196T	LPP_ENST00000543006.1_Missense_Mutation_p.I196T|LPP_ENST00000448637.1_Missense_Mutation_p.I196T|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	196	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GTGGCTCCAATCGGAACACTC	0.562000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								28	132					0	0	0.729181	0	0
ANKLE2	23141	broad.mit.edu	37	12	133327436	133327436	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:133327436C>G	ENST00000539605.1	-	2	7139		c.e2-1		ANKLE2_ENST00000357997.5_Splice_Site|ANKLE2_ENST00000337516.5_Splice_Site			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2							cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TAGATCCTTTCTGGGTAAGAA	0.433000													4	28					0	0	0.184627	0	0
ELMOD3	84173	broad.mit.edu	37	2	85617504	85617504	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:85617504C>T	ENST00000315658.7	+	11	1318	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	ELMOD3_ENST00000490508.1_Intron|ELMOD3_ENST00000409344.3_Intron|ELMOD3_ENST00000393852.4_Intron|ELMOD3_ENST00000409013.3_Intron|ELMOD3_ENST00000409890.2_Intron	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	0					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CACACTTTCTCAAATTCCAGC	0.522000													24	189					0	0	0.788014	0	0
NF1	4763	broad.mit.edu	37	17	29490350	29490350	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:29490350C>T	ENST00000358273.4	+	4	818	c.435C>T	c.(433-435)ctC>ctT	p.L145L	NF1_ENST00000356175.3_Silent_p.L145L|NF1_ENST00000431387.4_Silent_p.L145L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	145			L -> P (in NF1).		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.?(4)	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)		TATTTTCTCTCAGCTGCAACA	0.418000			"""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)			7	45					0	0	0.335167	0	0
SLFN5	162394	broad.mit.edu	37	17	33586238	33586238	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:33586238G>C	ENST00000299977.4	+	2	677	c.529G>C	c.(529-531)Gat>Cat	p.D177H	SLFN5_ENST00000542451.1_Missense_Mutation_p.D177H|SLFN5_ENST00000592325.1_Missense_Mutation_p.D177H	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	177					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGCTTTATTTGATAGAAAGCG	0.398000													8	74					0	0	0.361761	0	0
HERPUD2	64224	broad.mit.edu	37	7	35674914	35674914	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:35674914G>C	ENST00000396081.1	-	6	1576	c.772C>G	c.(772-774)Caa>Gaa	p.Q258E	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.Q258E	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	258					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GCATTCATTTGAACATTCTCA	0.468000													24	170					0	0	0.693898	0	0
SPTA1	6708	broad.mit.edu	37	1	158632519	158632519	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:158632519C>T	ENST00000368147.4	-	17	2617	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTGAGGGTTCAGTCTCTTGG	0.512000													7	51					0	0	0.335167	0	0
OBSCN	84033	broad.mit.edu	37	1	228466439	228466439	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:228466439G>A	ENST00000570156.2	+	31	8270	c.8196G>A	c.(8194-8196)gaG>gaA	p.E2732E	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.E2303E|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.E1150E|OBSCN_ENST00000284548.11_Silent_p.E2303E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1731					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTGCCATGGAGAAGCACCGCG	0.667000													40	139					0	0	0.870114	0	0
CYR61	3491	broad.mit.edu	37	1	86048268	86048268	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:86048268G>A	ENST00000451137.2	+	4	1028	c.804G>A	c.(802-804)gaG>gaA	p.E268E		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	268	TSP type-1.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		GGATTTGTGAGGTGCGGCCTT	0.532000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	77					0	0	0.387290	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2017150	2017150	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:2017150G>A	ENST00000382722.5	-	5	902	c.540C>T	c.(538-540)ttC>ttT	p.F180F	CACNA2D4_ENST00000585732.1_Silent_p.F180F|CACNA2D4_ENST00000586184.1_Silent_p.F180F|CACNA2D4_ENST00000585708.1_Silent_p.F116F|CACNA2D4_ENST00000588077.1_Silent_p.F116F|CACNA2D4_ENST00000587995.1_Silent_p.F180F	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	180						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCAGCTCCACGAAGTTGCCCT	0.627000													18	100					0	0	0.575678	0	0
FSTL1	11167	broad.mit.edu	37	3	120128498	120128498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:120128498G>A	ENST00000295633.3	-	6	699	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	FSTL1_ENST00000424703.2_Nonsense_Mutation_p.Q80*	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	115					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CGGTTGGACTGATAGCAAACA	0.542000													13	52					0	0	0.539581	0	0
CD53	963	broad.mit.edu	37	1	111436954	111436954	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:111436954C>T	ENST00000271324.5	+	4	370	c.258C>T	c.(256-258)ttC>ttT	p.F86F	CD53_ENST00000497404.1_3'UTR|CD53_ENST00000429072.2_Silent_p.F86F	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	86					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CCCAGTTCTTCATCCTGCTGC	0.473000													13	198					0	0	0.539581	0	0
AAMP	14	broad.mit.edu	37	2	219134293	219134293	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:219134293G>C	ENST00000420660.1	-	1	170	c.29C>G	c.(28-30)tCc>tGc	p.S10C	AAMP_ENST00000248450.4_Intron|AAMP_ENST00000444053.1_Intron			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	0					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGGCTCGGGAGGCGGTAAG	0.602000													7	64					0	0	0.307466	0	0
DST	667	broad.mit.edu	37	6	56464987	56464987	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:56464987C>G	ENST00000370754.5	-	45	11480	c.11481G>C	c.(11479-11481)gaG>gaC	p.E3827D	DST_ENST00000312431.6_Missense_Mutation_p.E3647D|DST_ENST00000361203.3_Missense_Mutation_p.E3647D|DST_ENST00000446842.2_Missense_Mutation_p.E3323D|DST_ENST00000244364.6_Missense_Mutation_p.E1235D|DST_ENST00000370769.4_Missense_Mutation_p.E3649D|DST_ENST00000370788.2_Missense_Mutation_p.E1561D|DST_ENST00000421834.2_Missense_Mutation_p.E1561D			Q03001	DYST_HUMAN	dystonin	3647					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTGGAGTTTCTCTTTATACT	0.403000													8	22					0	0	0.278610	0	0
GPR4	2828	broad.mit.edu	37	19	46094942	46094942	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:46094942G>C	ENST00000323040.4	-	2	1127	c.183C>G	c.(181-183)atC>atG	p.I61M	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	61						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCAGGTCGGCGATGCTGAGGT	0.647000													13	176					0	0	0.479597	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353686	37353686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:37353686G>A	ENST00000217420.1	+	1	582	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	107					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGGTGGTGGCGAATTCGGGGG	0.652000													18	185					0	0	0.681144	0	0
ADM2	79924	broad.mit.edu	37	22	50921131	50921131	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:50921131C>T	ENST00000395738.2	+	2	538	c.246C>T	c.(244-246)ctC>ctT	p.L82L	ADM2_ENST00000395737.1_Silent_p.L82L|ADM2_ENST00000362068.2_5'UTR	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	82					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCAGCCTCTCCGGGATGGTG	0.716000													6	34					0	0	0.248553	0	0
TNC	3371	broad.mit.edu	37	9	117840339	117840339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:117840339C>A	ENST00000350763.4	-	7	2968	c.2557G>T	c.(2557-2559)Gag>Tag	p.E853*	TNC_ENST00000542877.1_Nonsense_Mutation_p.E853*|TNC_ENST00000340094.3_Nonsense_Mutation_p.E853*|TNC_ENST00000537320.1_Nonsense_Mutation_p.E853*|TNC_ENST00000345230.3_Nonsense_Mutation_p.E853*|TNC_ENST00000341037.4_Nonsense_Mutation_p.E853*|TNC_ENST00000423613.2_Nonsense_Mutation_p.E853*|TNC_ENST00000535648.1_Nonsense_Mutation_p.E853*|TNC_ENST00000346706.3_Nonsense_Mutation_p.E853*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	853	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCTCGTCCTCTGTGAGATCG	0.557000													12	71					2.23348e-06	2.32566e-06	0.500413	1	0
ELMO2	63916	broad.mit.edu	37	20	45012097	45012097	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:45012097C>T	ENST00000372176.1	-	10	918	c.450G>A	c.(448-450)ctG>ctA	p.L150L	ELMO2_ENST00000290246.6_Silent_p.L238L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Silent_p.L236L|ELMO2_ENST00000439931.2_Silent_p.L238L|ELMO2_ENST00000445496.2_Silent_p.L55L|ELMO2_ENST00000396391.1_Silent_p.L238L			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	238					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)				GTGCATTAATCAGTGCAATGG	0.458000													10	104					0	0	0.411799	0	0
MAP3K1	4214	broad.mit.edu	37	5	56178366	56178366	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:56178366C>T	ENST00000399503.3	+	14	3339	c.3339C>T	c.(3337-3339)ttC>ttT	p.F1113F		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1113					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACAGTGTTCACCCCAGTAG	0.433000													6	48					0	0	0.307466	0	0
ITGB2	3689	broad.mit.edu	37	21	46321536	46321536	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:46321536G>A	ENST00000397850.2	-	7	1064	c.612C>T	c.(610-612)ttC>ttT	p.F204F	ITGB2_ENST00000397857.1_Silent_p.F204F|ITGB2_ENST00000302347.5_Silent_p.F204F|ITGB2_ENST00000397852.1_Silent_p.F204F|ITGB2_ENST00000397854.3_Silent_p.F147F|ITGB2_ENST00000355153.4_Silent_p.F204F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	204	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCACGTGCCTGAAGGCAAACG	0.587000													18	181					0	0	0.608945	0	0
RNF114	55905	broad.mit.edu	37	20	48562721	48562721	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:48562721G>A	ENST00000244061.2	+	4	449	c.447G>A	c.(445-447)aaG>aaA	p.K149K		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	149					cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						GTCCTGAGAAGAACTTTGATC	0.378000													6	69					0	0	0.387290	0	0
INO80D	54891	broad.mit.edu	37	2	206870253	206870253	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:206870253C>G	ENST00000403263.1	-	11	2327	c.1923G>C	c.(1921-1923)aaG>aaC	p.K641N		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	641					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GGTCTCCATTCTTCCCTGAGT	0.443000													4	21					0	0	0.150653	0	0
ACE	1636	broad.mit.edu	37	17	61566065	61566065	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:61566065G>A	ENST00000577647.1	+	5	685	c.640G>A	c.(640-642)Gag>Aag	p.E214K	ACE_ENST00000490216.2_Missense_Mutation_p.E214K|ACE_ENST00000413513.3_Missense_Mutation_p.E214K|ACE_ENST00000421982.2_Missense_Mutation_p.E98K|ACE_ENST00000290866.4_Missense_Mutation_p.E788K|ACE_ENST00000428043.1_Missense_Mutation_p.E788K|ACE_ENST00000290863.6_Missense_Mutation_p.E214K			P12821	ACE_HUMAN	angiotensin I converting enzyme	788	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ATGGGCATGGGAGGGCTGGCG	0.562000													16	146					0	0	0.539581	0	0
KIAA0922	23240	broad.mit.edu	37	4	154517430	154517430	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:154517430C>T	ENST00000409959.3	+	20	2065	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	KIAA0922_ENST00000440693.1_Silent_p.S588S|KIAA0922_ENST00000409663.3_Silent_p.S671S	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	671						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGAGGAATCCAGGTTTGGCA	0.413000													12	89					0	0	0.457914	0	0
NXF1	10482	broad.mit.edu	37	11	62570909	62570909	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:62570909C>T	ENST00000531709.2	-	3	464	c.351G>A	c.(349-351)aaG>aaA	p.K117K	NXF1_ENST00000439713.2_Silent_p.K117K|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000532297.1_Silent_p.K117K|NXF1_ENST00000294172.2_Silent_p.K117K	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	117	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAACCAGTTCTTTGAGGTCC	0.473000													25	185					0	0	0.717897	0	0
TEKT1	83659	broad.mit.edu	37	17	6719158	6719158	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:6719158C>T	ENST00000338694.2	-	4	609	c.480G>A	c.(478-480)caG>caA	p.Q160Q	TEKT1_ENST00000535086.1_Silent_p.Q14Q	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	160					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CATACCGAATCTGCTCGGAAG	0.532000													4	52					0	0	0.184627	0	0
ZNF292	23036	broad.mit.edu	37	6	87969858	87969858	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:87969858G>C	ENST00000369577.3	+	8	6554	c.6511G>C	c.(6511-6513)Gaa>Caa	p.E2171Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E2166Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACTTTGAAAGAATTTCGATG	0.368000													5	38					0	0	0.217242	0	0
CC2D2B	387707	broad.mit.edu	37	10	97772423	97772423	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:97772423C>G	ENST00000344386.3	+	4	419	c.255C>G	c.(253-255)atC>atG	p.I85M	ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.I85M|CC2D2B_ENST00000371198.2_Intron|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	85										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CAAGATATATCAAGGCATTAA	0.299000													9	26					0	0	0.361761	0	0
RASGRP2	10235	broad.mit.edu	37	11	64508453	64508453	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64508453C>T	ENST00000377494.1	-	4	1260	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	RASGRP2_ENST00000377489.1_Missense_Mutation_p.R113Q|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000394432.3_Missense_Mutation_p.R113Q|RASGRP2_ENST00000377486.3_Missense_Mutation_p.R113Q|RASGRP2_ENST00000377487.1_Missense_Mutation_p.R113Q|RASGRP2_ENST00000354024.3_Missense_Mutation_p.R113Q|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R113Q|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000394430.1_Missense_Mutation_p.R113Q			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	113	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	p.R175Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGTGCCGTCGGTTCCCTTC	0.557000											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	66					0	0	0.457914	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596168	161596168	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161596168C>T	ENST00000294800.3	-	4	617	c.344G>A	c.(343-345)cGg>cAg	p.R115Q	FCGR3B_ENST00000531221.1_Missense_Mutation_p.R151Q|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.R115Q|FCGR2B_ENST00000428605.2_Intron|FCGR3A_ENST00000540048.1_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	115					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAACACCCACCGAGGGGCCTG	0.562000													5	40					0	0	0.217242	0	0
HIST1H2AD	3013	broad.mit.edu	37	6	26199439	26199439	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26199439G>A	ENST00000341023.1	-	1	32	c.33C>T	c.(31-33)gcC>gcT	p.A11A	HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	11					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				CCTTAGCTCGGGCCTTTCCGC	0.527000													4	38					0	0	0.150653	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736611	140736611	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140736611G>A	ENST00000571252.1	+	1	1844	c.1844G>A	c.(1843-1845)gGa>gAa	p.G615E	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGAGCCGGGACTATTTGCA	0.617000													14	68					0	0	0.520397	0	0
PTPN4	5775	broad.mit.edu	37	2	120684226	120684226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:120684226G>A	ENST00000263708.2	+	13	1825	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	352						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GGCAAATAAAGACAGGGTATT	0.284000													9	50					0	0	0.435327	0	0
TFAP4	7023	broad.mit.edu	37	16	4310139	4310139	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:4310139G>A	ENST00000204517.6	-	6	1102	c.774C>T	c.(772-774)gtC>gtT	p.V258V		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	258					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGAGTTGATGACCGAGGAGG	0.622000													24	172					0	0	0.693898	0	0
BLMH	642	broad.mit.edu	37	17	28593921	28593921	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:28593921C>T	ENST00000261714.6	-	11	1372	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	BLMH_ENST00000394819.3_Missense_Mutation_p.E313K	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	400					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						CCATGGTCTTCACCCCATGAA	0.493000													4	70					0	0	0.184627	0	0
DOPEY1	23033	broad.mit.edu	37	6	83841961	83841961	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:83841961G>C	ENST00000349129.2	+	18	2943	c.2683G>C	c.(2683-2685)Gaa>Caa	p.E895Q	DOPEY1_ENST00000237163.5_Missense_Mutation_p.E876Q|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E886Q	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	895					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAAGAGTGTGGAACTATTTTA	0.368000													9	57					0	0	0.361761	0	0
LRCH1	23143	broad.mit.edu	37	13	47263286	47263286	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:47263286G>C	ENST00000311191.6	+	7	1198	c.969G>C	c.(967-969)tcG>tcC	p.S323S	LRCH1_ENST00000389798.3_Silent_p.S323S|LRCH1_ENST00000389797.3_Silent_p.S323S	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	323										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATTCTGATTCGGGAGTTGGAA	0.343000													34	102					0	0	0.864702	0	0
MTMR12	54545	broad.mit.edu	37	5	32229910	32229910	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:32229910C>G	ENST00000382142.3	-	16	2388	c.2218G>C	c.(2218-2220)Gag>Cag	p.E740Q	MTMR12_ENST00000264934.5_Missense_Mutation_p.E630Q|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	740						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCACGAACTCATCTTCTCGT	0.507000													14	104					0	0	0.479597	0	0
DPYD	1806	broad.mit.edu	37	1	97839142	97839142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:97839142C>T	ENST00000370192.3	-	16	2133	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	678	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCCCATTCCTCTTTCTCCCAT	0.453000													5	58					0	0	0.307466	0	0
OIP5	11339	broad.mit.edu	37	15	41624585	41624585	+	Missense_Mutation	SNP	C	C	T	rs148616469		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:41624585C>T	ENST00000220514.3	-	1	234	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	59					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCGGCTGGCTCCTCAGCCCCC	0.672000													21	48					0	0	0.706142	0	0
RHOT1	55288	broad.mit.edu	37	17	30503214	30503214	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:30503214G>A	ENST00000358365.3	+	6	538	c.311G>A	c.(310-312)aGa>aAa	p.R104K	RHOT1_ENST00000333942.6_Missense_Mutation_p.R104K|RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000581094.1_Missense_Mutation_p.R104K|RHOT1_ENST00000394692.2_Missense_Mutation_p.R104K|RHOT1_ENST00000354266.3_Missense_Mutation_p.R83K|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000545287.2_Missense_Mutation_p.R104K	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	104	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ATAAATGAAAGAACAGACAAA	0.328000													3	26					0	0	0.150653	0	0
AQP8	343	broad.mit.edu	37	16	25232864	25232864	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:25232864C>G	ENST00000219660.5	+	3	472	c.347C>G	c.(346-348)tCa>tGa	p.S116*	AQP8_ENST00000566125.1_Nonsense_Mutation_p.S110*	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	116					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TACTGGGTCTCACAGCTGCTC	0.627000													26	214					0	0	0.788014	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594403	140594403	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140594403C>T	ENST00000341948.4	+	1	895	c.708C>T	c.(706-708)gtC>gtT	p.V236V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		236	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGATGTCAACGATAATG	0.532000													20	189					0	0	0.681144	0	0
MID2	11043	broad.mit.edu	37	X	107169434	107169434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:107169434G>C	ENST00000262843.6	+	9	2256	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	MID2_ENST00000443968.2_Missense_Mutation_p.E540Q|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	570	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CCACACCCCAGAGAGGTTTAG	0.468000													11	30					0	0	0.387290	0	0
KAT7	11143	broad.mit.edu	37	17	47886483	47886483	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:47886483G>A	ENST00000503935.2	+	6	1234	c.198G>A	c.(196-198)gtG>gtA	p.V66V	KAT7_ENST00000509773.1_Intron|KAT7_ENST00000454930.2_Silent_p.V83V|KAT7_ENST00000259021.4_Silent_p.V222V|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000435742.2_Intron|KAT7_ENST00000424009.2_Intron			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	222					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										GGTTGCAGGTGAGAGCACAGA	0.438000													7	56					0	0	0.278610	0	0
SNX14	57231	broad.mit.edu	37	6	86256945	86256945	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:86256945C>G	ENST00000314673.3	-	12	1170		c.e12-1		SNX14_ENST00000505648.1_Splice_Site|SNX14_ENST00000346348.3_Splice_Site|SNX14_ENST00000513865.1_Splice_Site|SNX14_ENST00000369627.2_Splice_Site|SNX14_ENST00000508980.1_Splice_Site	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14						cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACTTCAGCACCTTGATATAAG	0.318000													3	18					0	0	0.115264	0	0
DBH	1621	broad.mit.edu	37	9	136501627	136501627	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:136501627G>A	ENST00000393056.2	+	1	146	c.134G>A	c.(133-135)aGc>aAc	p.S45N		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	45					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCCCGTGAGAGCCCCCTCCCC	0.647000													13	58					0	0	0.435327	0	0
BTN3A1	11119	broad.mit.edu	37	6	26411782	26411782	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:26411782G>A	ENST00000289361.6	+	9	1359		c.e9-1		BTN3A1_ENST00000425234.2_Splice_Site|BTN3A1_ENST00000476549.2_Splice_Site|BTN3A1_ENST00000414912.2_Splice_Site	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1						lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTCCTTTCAGAATGGAAAAA	0.438000													13	61					0	0	0.500413	0	0
TMEM61	199964	broad.mit.edu	37	1	55457567	55457567	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:55457567G>A	ENST00000371268.3	+	3	698	c.424G>A	c.(424-426)Gag>Aag	p.E142K	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	142						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CCCAGTGGCCGAGGGGCCCCC	0.647000													18	139					0	0	0.592651	0	0
COL4A2	1284	broad.mit.edu	37	13	110960258	110960258	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:110960258G>A	ENST00000360467.5	+	2	314	c.8G>A	c.(7-9)aGa>aAa	p.R3K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	3					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGCATGGGGAGAGACCAGCGC	0.662000													10	86					0	0	0.457914	0	0
KMT2B	9757	broad.mit.edu	37	19	36219890	36219890	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:36219890C>T	ENST00000222270.7	+	21	4692	c.4692C>T	c.(4690-4692)ttC>ttT	p.F1564F	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.F1564F	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		CTTCAGCATTCCAGGGCAAGG	0.602000													16	151					0	0	0.557998	0	0
NUMA1	4926	broad.mit.edu	37	11	71725723	71725723	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:71725723C>T	ENST00000393695.3	-	15	3157	c.2826G>A	c.(2824-2826)gcG>gcA	p.A942A	NUMA1_ENST00000358965.6_Silent_p.A942A|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	942					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTCCTGCCCTCGCAGGCTCCT	0.642000			T	RARA	APL								25	95					0	0	0.717897	0	0
KALRN	8997	broad.mit.edu	37	3	124181431	124181431	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124181431G>C	ENST00000360013.3	+	25	4103	c.3976G>C	c.(3976-3978)Gag>Cag	p.E1326Q	KALRN_ENST00000240874.3_Missense_Mutation_p.E1326Q|KALRN_ENST00000460856.1_Missense_Mutation_p.E1317Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1326	DH 1.		E -> D (in dbSNP:rs2289838).		apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTCAATAAAGAGCATATCAT	0.473000													5	42					0	0	0.307466	0	0
ACACA	31	broad.mit.edu	37	17	35627678	35627678	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:35627678G>A	ENST00000353139.5	-	10	1564	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	ACACA_ENST00000360679.3_Silent_p.V266V|ACACA_ENST00000394406.2_Silent_p.V324V|ACACA_ENST00000335166.5_Silent_p.V246V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	324	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGCATTGTTGACTTTTCTAA	0.363000													15	151					0	0	0.557998	0	0
NFIB	4781	broad.mit.edu	37	9	14313500	14313500	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:14313500G>A	ENST00000380959.3	-	1	484	c.11C>T	c.(10-12)tCt>tTt	p.S4F	NFIB_ENST00000380934.4_Intron|NFIB_ENST00000380921.3_Missense_Mutation_p.S4F|NFIB_ENST00000380953.1_Missense_Mutation_p.S4F|NFIB_ENST00000397579.2_Missense_Mutation_p.S4F|NFIB_ENST00000397575.3_Missense_Mutation_p.S4F|NFIB_ENST00000397581.2_Missense_Mutation_p.S4F	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	4					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ACAGATGGGAGAATACATCAT	0.448000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								11	113					0	0	0.500413	0	0
CENPB	1059	broad.mit.edu	37	20	3766965	3766965	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:3766965C>G	ENST00000379751.4	-	1	372	c.166G>C	c.(166-168)Gag>Cag	p.E56Q		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	56					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TACTTGCGCTCCGACGCCAGG	0.642000													11	106					0	0	0.361761	0	0
ZNF526	116115	broad.mit.edu	37	19	42728868	42728868	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42728868G>A	ENST00000301215.3	+	3	538	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCGGGTGCTGAGGGGCCCTT	0.622000													10	137					0	0	0.411799	0	0
CASC3	22794	broad.mit.edu	37	17	38318321	38318321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:38318321G>A	ENST00000264645.7	+	5	749	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	175	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TGATGATGAAGATCGGAAGAA	0.478000													13	82					0	0	0.457914	0	0
GPBAR1	151306	broad.mit.edu	37	2	219128245	219128245	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:219128245C>T	ENST00000522678.1	+	2	1666	c.798C>T	c.(796-798)ctC>ctT	p.L266L	GPBAR1_ENST00000521462.1_Silent_p.L266L|GPBAR1_ENST00000519574.1_Silent_p.L266L|GPBAR1_ENST00000479077.1_Silent_p.L266L	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	266						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCCTCCTCTCCCTAGGAA	0.687000													3	29					0	0	0.150653	0	0
C11orf63	79864	broad.mit.edu	37	11	122805215	122805215	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:122805215C>G	ENST00000227349.2	+	5	1363	c.1066C>G	c.(1066-1068)Caa>Gaa	p.Q356E	C11orf63_ENST00000531316.1_Missense_Mutation_p.Q356E	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	356										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAATGACCATCAACCTTCCAG	0.448000													6	24					0	0	0.307466	0	0
OTX1	5013	broad.mit.edu	37	2	63283012	63283012	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:63283012C>T	ENST00000282549.2	+	5	902	c.626C>T	c.(625-627)tCc>tTc	p.S209F	OTX1_ENST00000366671.3_Missense_Mutation_p.S209F	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	209						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ATGCAGCGCTCCGTAGCTGCA	0.682000													7	36					0	0	0.278610	0	0
STAM2	10254	broad.mit.edu	37	2	153003708	153003708	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:153003708C>T	ENST00000263904.4	-	5	764	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	139	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GTAATTCCTTCTTCTTTCATA	0.358000													4	58					0	0	0.184627	0	0
CCDC37	348807	broad.mit.edu	37	3	126135240	126135240	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:126135240C>T	ENST00000393425.1	+	5	406	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CCDC37_ENST00000352312.1_Missense_Mutation_p.R103W|CCDC37_ENST00000505024.1_Missense_Mutation_p.R103W			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	103										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CACCAGCCTGCGGCGGCAGCT	0.662000													7	68					0	0	0.335167	0	0
IVD	3712	broad.mit.edu	37	15	40698015	40698015	+	Translation_Start_Site	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:40698015C>A	ENST00000249760.2	+	0	330				IVD_ENST00000487418.2_De_novo_Start_OutOfFrame|IVD_ENST00000479013.2_De_novo_Start_OutOfFrame|IVD_ENST00000490194.1_3'UTR	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase						leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GCTGGCTCTTCGTGCATGGCA	0.677000													33	72					1.59361e-14	1.7054e-14	0.827153	1	0
PCDHB1	29930	broad.mit.edu	37	5	140432123	140432123	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140432123C>A	ENST00000306549.3	+	1	1145	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		356	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGCCCACTCCCTGAAGACT	0.537000													11	80					4.3838e-07	4.57926e-07	0.435327	1	0
CADM2	253559	broad.mit.edu	37	3	85961684	85961684	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:85961684G>C	ENST00000383699.3	+	6	1318	c.691G>C	c.(691-693)Gaa>Caa	p.E231Q	CADM2_ENST00000405615.2_Missense_Mutation_p.E224Q|CADM2_ENST00000407528.2_Missense_Mutation_p.E222Q	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	222	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCAGGTGCTAGAAATACACTG	0.468000													7	60					0	0	0.307466	0	0
ABCC12	94160	broad.mit.edu	37	16	48177916	48177916	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:48177916G>A	ENST00000311303.3	-	2	525	c.180C>T	c.(178-180)ctC>ctT	p.L60L	ABCC12_ENST00000448542.1_Silent_p.L60L|ABCC12_ENST00000416054.1_Silent_p.L60L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	60						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCACCGGCGTGAGCCAGGAAA	0.567000													12	101					0	0	0.457914	0	0
BPIFB3	359710	broad.mit.edu	37	20	31661410	31661410	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:31661410G>A	ENST00000375494.3	+	15	1430	c.1430G>A	c.(1429-1431)tGa>tAa	p.*477*		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	0					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GTGGCATCCTGAGGCTGAGAC	0.532000													16	187					0	0	0.575678	0	0
CHRDL2	25884	broad.mit.edu	37	11	74419417	74419417	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:74419417G>C	ENST00000376332.3	-	5	952	c.456C>G	c.(454-456)ctC>ctG	p.L152L	CHRDL2_ENST00000263671.5_Silent_p.L152L|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	152	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GGCAGGTTGTGAGGCCGCAGT	0.622000													5	36					0	0	0.278610	0	0
ZNF221	7638	broad.mit.edu	37	19	44470216	44470216	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:44470216C>T	ENST00000251269.5	+	6	890	c.562C>T	c.(562-564)Cat>Tat	p.H188Y	ZNF221_ENST00000592350.1_Missense_Mutation_p.H188Y|ZNF221_ENST00000587682.1_Missense_Mutation_p.H188Y	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTTTGATCTTCATCAACAATC	0.408000													25	88					0	0	0.740014	0	0
GEMIN5	25929	broad.mit.edu	37	5	154308188	154308188	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:154308188C>T	ENST00000285873.7	-	6	888	c.813G>A	c.(811-813)aaG>aaA	p.K271K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	271					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCTCTTCTCTTCAGAAAGG	0.473000													11	63					0	0	0.435327	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332658	71332658	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:71332658C>T	ENST00000242462.4	-	2	171	c.142G>A	c.(142-144)Gag>Aag	p.E48K		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	48					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	p.E48K(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TCTTCCGCCTCTGCGCAGTTC	0.721000													10	34					0	0	0.387290	0	0
BNIPL	149428	broad.mit.edu	37	1	151018574	151018574	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:151018574G>A	ENST00000295294.7	+	9	1333	c.724G>A	c.(724-726)Gac>Aac	p.D242N	BNIPL_ENST00000368931.3_Missense_Mutation_p.D324N|BNIPL_ENST00000491386.1_3'UTR	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	324	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGTTTTCTGGACAGCCTGGG	0.443000													8	61					0	0	0.387290	0	0
PTBP2	58155	broad.mit.edu	37	1	97278438	97278438	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:97278438C>G	ENST00000609116.1	+	12	1424	c.1342C>G	c.(1342-1344)Caa>Gaa	p.Q448E	PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.Q464E|PTBP2_ENST00000426398.2_Missense_Mutation_p.Q448E|PTBP2_ENST00000370198.1_Missense_Mutation_p.Q453E|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.Q453E			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2								nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CAAAAATTTTCAAAACATTTT	0.358000													3	34					0	0	0.150653	0	0
PYROXD2	84795	broad.mit.edu	37	10	100174797	100174797	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:100174797C>T	ENST00000370575.4	-	1	144	c.96G>A	c.(94-96)aaG>aaA	p.K32K		NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	32							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CATACTCAGGCTTCAGACCTC	0.617000													67	249					0	0	0.870114	0	0
ITGAM	3684	broad.mit.edu	37	16	31309204	31309204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31309204G>A	ENST00000544665.3	+	14	1710	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	ITGAM_ENST00000287497.8_Missense_Mutation_p.E546K	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	546					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCCAGGAGAGGAGGACAACCG	0.617000													19	158					0	0	0.575678	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52740512	52740512	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:52740512C>T	ENST00000334635.5	+	4	392	c.212C>T	c.(211-213)tCt>tTt	p.S71F	DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.S11F|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.S71F|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.S115F	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	71										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AGACCTGCCTCTGGAGATGAT	0.393000													7	48					0	0	0.335167	0	0
CRMP1	1400	broad.mit.edu	37	4	5827255	5827255	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:5827255G>A	ENST00000324989.7	-	13	2023	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	CRMP1_ENST00000397890.2_Silent_p.I531I|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000512574.1_Silent_p.I529I|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	531					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GGAGGTTTCTGATGGGTGGGG	0.547000													13	80					0	0	0.500413	0	0
PTPRK	5796	broad.mit.edu	37	6	128505838	128505838	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:128505838G>A	ENST00000368227.3	-	7	1267	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F	PTPRK_ENST00000368215.3_Missense_Mutation_p.L301F|PTPRK_ENST00000368213.5_Missense_Mutation_p.L301F|PTPRK_ENST00000368210.3_Missense_Mutation_p.L301F|PTPRK_ENST00000368226.4_Missense_Mutation_p.L301F|PTPRK_ENST00000368207.3_Missense_Mutation_p.L301F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.L301F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	301	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCAACACCAAGAAGCTGAGGA	0.408000													11	23					0	0	0.479597	0	0
SUSD2	56241	broad.mit.edu	37	22	24581693	24581693	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:24581693G>A	ENST00000358321.3	+	8	1396	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	379	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCTGACAGCTGACTCCAGCGG	0.687000													11	40					0	0	0.411799	0	0
TDRD5	163589	broad.mit.edu	37	1	179600039	179600039	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:179600039G>A	ENST00000444136.1	+	7	1360	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	TDRD5_ENST00000294848.8_Silent_p.K370K|TDRD5_ENST00000367614.1_Silent_p.K370K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	370	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGCGGATAAGAAGCCTCTAC	0.413000													4	84					0	0	0.361761	0	0
ZNF407	55628	broad.mit.edu	37	18	72343136	72343136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:72343136C>T	ENST00000299687.5	+	1	161	c.161C>T	c.(160-162)tCa>tTa	p.S54L	ZNF407_ENST00000577538.1_Missense_Mutation_p.S54L|ZNF407_ENST00000309902.6_Missense_Mutation_p.S54L|ZNF407_ENST00000582337.1_Missense_Mutation_p.S54L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAGGTTTTTCAGAATCATCG	0.413000													7	24					0	0	0.248553	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704969	52704969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:52704969C>T	ENST00000287727.3	+	4	2052	c.1880C>T	c.(1879-1881)tCa>tTa	p.S627L	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.S627L|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S627L			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	627					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GGGGAAAACTCAGCAACCAAT	0.358000													12	74					0	0	0.457914	0	0
ALMS1	7840	broad.mit.edu	37	2	73799556	73799556	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:73799556C>T	ENST00000264448.6	+	16	10660	c.10549C>T	c.(10549-10551)Cat>Tat	p.H3517Y	ALMS1_ENST00000409009.1_Missense_Mutation_p.H3475Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3517					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTTCAGCATCATCCAGACAA	0.383000													6	19					0	0	0.248553	0	0
RNF115	27246	broad.mit.edu	37	1	145687023	145687023	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145687023G>A	ENST00000369291.5	+	8	919	c.715G>A	c.(715-717)Gag>Aag	p.E239K		NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN	ring finger protein 115						protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CACAGTTGAAGAGGAAGTCCG	0.428000													12	133					0	0	0.500413	0	0
TXLNB	167838	broad.mit.edu	37	6	139564283	139564283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:139564283C>G	ENST00000358430.3	-	10	1667	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	479						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ACGTTTGACTCTGGCTCTTCA	0.433000													14	78					0	0	0.575678	0	0
P4HTM	54681	broad.mit.edu	37	3	49039971	49039971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:49039971G>A	ENST00000343546.4	+	4	1034	c.666G>A	c.(664-666)atG>atA	p.M222I	P4HTM_ENST00000383729.4_Missense_Mutation_p.M222I	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	222						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GATGGTGGATGACTCCAGAGA	0.577000													66	222					0	0	0.870114	0	0
FAM193A	8603	broad.mit.edu	37	4	2673965	2673965	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:2673965G>C	ENST00000324666.5	+	11	1675	c.1324G>C	c.(1324-1326)Gag>Cag	p.E442Q	FAM193A_ENST00000545951.1_Missense_Mutation_p.E442Q|FAM193A_ENST00000382839.3_Missense_Mutation_p.E442Q|FAM193A_ENST00000505311.1_Missense_Mutation_p.E442Q|FAM193A_ENST00000502458.1_Missense_Mutation_p.E464Q	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	442										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CTTGAGCCCAGAGAAGCCCAC	0.552000													11	85					0	0	0.411799	0	0
ASH1L	55870	broad.mit.edu	37	1	155450149	155450149	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155450149G>C	ENST00000368346.3	-	3	3151	c.2512C>G	c.(2512-2514)Caa>Gaa	p.Q838E	ASH1L_ENST00000392403.3_Missense_Mutation_p.Q838E			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	838					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTTCCAGTTGAGGCATCTCC	0.408000													4	49					0	0	0.184627	0	0
RNF8	9025	broad.mit.edu	37	6	37358585	37358585	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:37358585G>A	ENST00000469731.1	+	7	1378	c.1304G>A	c.(1303-1305)aGa>aAa	p.R435K	RNF8_ENST00000373479.4_3'UTR			O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	0					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCGAGCCTGAGATGGTCTGGA	0.468000													6	76					0	0	0.278610	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459618	122459618	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:122459618C>T	ENST00000306103.2	-	8	1184	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	347						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CATCTGTTCTCAGTGCTTGGA	0.448000													21	152					0	0	0.639603	0	0
SNRPC	6631	broad.mit.edu	37	6	34741334	34741334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:34741334G>A	ENST00000374017.3	+	5	817	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	SNRPC_ENST00000244520.5_Missense_Mutation_p.R156Q|SNRPC_ENST00000374018.1_Missense_Mutation_p.R115Q			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	156					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGAATGACTCGACCAGACAGA	0.537000													9	115					0	0	0.387290	0	0
IFNA4	3441	broad.mit.edu	37	9	21187338	21187338	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:21187338C>G	ENST00000421715.1	-	1	260	c.193G>C	c.(193-195)Gag>Cag	p.E65Q		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	65					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCATCAAACTCCTCCTCGGGG	0.512000													8	100					0	0	0.278610	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421337	62421337	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62421337C>T	ENST00000245663.4	-	2	924	c.774G>A	c.(772-774)caG>caA	p.Q258Q	ZBTB46_ENST00000302995.2_Silent_p.Q258Q|ZBTB46_ENST00000395104.1_Silent_p.Q258Q	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CACCAGCACTCTGCTCTGAGA	0.577000													11	85					0	0	0.457914	0	0
RDH11	51109	broad.mit.edu	37	14	68159246	68159246	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:68159246C>T	ENST00000381346.4	-	3	368	c.258G>A	c.(256-258)caG>caA	p.Q86Q	RDH11_ENST00000553384.1_Silent_p.Q73Q|RDH11_ENST00000428130.2_Silent_p.Q86Q	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	86					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CTGTCGTGGTCTGGATCTCTT	0.488000													36	214					0	0	0.870114	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661945	8661945	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:8661945C>T	ENST00000270328.4	-	7	1232	c.966G>A	c.(964-966)gtG>gtA	p.V322V	ADAMTS10_ENST00000597188.1_Silent_p.V322V			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	322	Peptidase M12B.				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						CGCTGTGGTTCACGATGGATT	0.572000													15	155					0	0	0.520397	0	0
SSX7	280658	broad.mit.edu	37	X	52681310	52681310	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:52681310C>T	ENST00000298181.5	-	4	430	c.272G>A	c.(271-273)gGg>gAg	p.G91E		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ACCCTGATTCCCTTGGTTACG	0.517000													19	77					0	0	0.624587	0	0
ABCG8	64241	broad.mit.edu	37	2	44102359	44102359	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:44102359G>A	ENST00000272286.2	+	11	1653	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	521	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGCCAACCTGAGGCCAGGCC	0.622000													12	140					0	0	0.479597	0	0
CAMK2B	816	broad.mit.edu	37	7	44259671	44259671	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:44259671G>A	ENST00000395749.2	-	23	2067	c.1991C>T	c.(1990-1992)cCg>cTg	p.P664L	CAMK2B_ENST00000350811.3_Missense_Mutation_p.P540L|CAMK2B_ENST00000353625.4_Missense_Mutation_p.P477L|CAMK2B_ENST00000440254.2_Missense_Mutation_p.P540L|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000457475.1_Missense_Mutation_p.P516L|CAMK2B_ENST00000347193.4_Missense_Mutation_p.P490L|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000258682.6_Missense_Mutation_p.P515L|CAMK2B_ENST00000395747.2_Missense_Mutation_p.P516L|CAMK2B_ENST00000346990.4_Missense_Mutation_p.P447L|CAMK2B_ENST00000358707.3_Missense_Mutation_p.P501L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	664					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TCACTGCAGCGGGGCCACAGG	0.692000													4	19					0	0	0.184627	0	0
SPON1	10418	broad.mit.edu	37	11	14282247	14282247	+	RNA	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14282247G>C	ENST00000310358.7	+	0	2480							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGAACTTGGAGACTGCAATGA	0.577000													20	76					0	0	0.667858	0	0
DPH3	285381	broad.mit.edu	37	3	16306335	16306335	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:16306335C>T	ENST00000488423.1	-	1	144	c.49G>A	c.(49-51)Gag>Aag	p.E17K	DPH3_ENST00000383775.4_Missense_Mutation_p.E17K	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	17					negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding			large_intestine(2)	2						TCCGAGTCCTCGTCATATTGG	0.582000													4	83					0	0	0.184627	0	0
RAB40B	10966	broad.mit.edu	37	17	80616443	80616443	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:80616443G>A	ENST00000571995.1	-	5	620	c.489C>T	c.(487-489)atC>atT	p.I163I	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Intron	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	163					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACGACTCTGTGATGTTGAAAT	0.657000													7	183					0	0	0.248553	0	0
POP1	10940	broad.mit.edu	37	8	99135698	99135698	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:99135698C>G	ENST00000401707.2	+	2	214	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	POP1_ENST00000349693.3_Missense_Mutation_p.Q45E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	45					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTTCCAAGCTCAAAAACAAGG	0.488000													4	22					0	0	0.184627	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38692599	38692599	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:38692599G>T	ENST00000222345.6	+	20	5591	c.5082G>T	c.(5080-5082)gaG>gaT	p.E1694D		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1694					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGAGCCTGGAGAGGGGACCCC	0.647000													14	136					1.33834e-09	1.41605e-09	0.557998	1	0
MPHOSPH9	10198	broad.mit.edu	37	12	123665727	123665727	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:123665727C>G	ENST00000606320.1	-	14	2478	c.2272G>C	c.(2272-2274)Gaa>Caa	p.E758Q	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E728Q|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E606Q|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E606Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	606					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTCCTGTGTTCTTTTCCAAGG	0.373000													5	54					0	0	0.248553	0	0
RIMKLB	57494	broad.mit.edu	37	12	8866535	8866535	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:8866535G>A	ENST00000357529.3	+	3	1335	c.73G>A	c.(73-75)Gag>Aag	p.E25K	RIMKLB_ENST00000538135.1_Missense_Mutation_p.E25K|RIMKLB_ENST00000535829.1_Missense_Mutation_p.E25K|RIMKLB_ENST00000299673.5_3'UTR	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	25					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTCAAAAAGAGATTTTACG	0.478000													7	39					0	0	0.335167	0	0
AFF2	2334	broad.mit.edu	37	X	148037319	148037319	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:148037319G>A	ENST00000370460.2	+	11	2223	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	AFF2_ENST00000342251.3_Missense_Mutation_p.E549K|AFF2_ENST00000370457.5_Missense_Mutation_p.E549K|AFF2_ENST00000286437.5_Missense_Mutation_p.E223K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	582					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCCAGCTGAACCCAAAGA	0.478000													19	74					0	0	0.608945	0	0
CHST4	10164	broad.mit.edu	37	16	71571634	71571634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:71571634G>A	ENST00000338482.5	+	3	1397	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.D352N|CHST4_ENST00000572450.1_Missense_Mutation_p.D352N			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	352					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.D352N(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGCCTGTGGCGATGCCATGAA	0.512000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	47					0	0	0.184627	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328435	88328435	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:88328435T>A	ENST00000325089.6	+	2	1011	c.792T>A	c.(790-792)tgT>tgA	p.C264*	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	264	LRRCT 1.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATGTAGTTTGTGAGACCCCCT	0.507000													6	123					0	0	0.335167	0	0
UMODL1	89766	broad.mit.edu	37	21	43557560	43557560	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:43557560C>A	ENST00000400424.2	+	22	3967	c.3571C>A	c.(3571-3573)Cat>Aat	p.H1191N	UMODL1_ENST00000408989.2_Missense_Mutation_p.H1391N|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408910.2_Missense_Mutation_p.H1263N|UMODL1_ENST00000400427.1_Missense_Mutation_p.H1319N	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGAGCCTCCTCATGCAGAAGC	0.607000													33	277					1.59361e-14	1.7054e-14	0.827153	1	0
IGSF10	285313	broad.mit.edu	37	3	151155890	151155890	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:151155890G>A	ENST00000282466.3	-	6	6458	c.6459C>T	c.(6457-6459)atC>atT	p.I2153I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2153	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCCAGCTTTGATTCTCTTGT	0.453000													9	42					0	0	0.387290	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667669	100667669	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:100667669G>A	ENST00000316594.5	+	2	771	c.693G>A	c.(691-693)atG>atA	p.M231I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	231					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TTGAAAGGATGAGGCGTGGTG	0.522000													24	58					0	0	0.667858	0	0
NLRP11	204801	broad.mit.edu	37	19	56329303	56329303	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56329303C>G	ENST00000443188.1	-	4	948	c.238G>C	c.(238-240)Gat>Cat	p.D80H	NLRP11_ENST00000360133.3_Missense_Mutation_p.D80H|NLRP11_ENST00000589093.1_Missense_Mutation_p.D80H|NLRP11_ENST00000589824.2_Missense_Mutation_p.D80H|NLRP11_ENST00000592953.1_Intron	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	80	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTACAAAGATCTTCCTTACGC	0.463000													8	84					0	0	0.307466	0	0
LRP2BP	55805	broad.mit.edu	37	4	186295477	186295477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:186295477C>T	ENST00000362004.3	-	4	1286	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	LRP2BP_ENST00000505916.1_Missense_Mutation_p.E157K|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000328559.7_Missense_Mutation_p.E157K|LRP2BP_ENST00000510776.1_Missense_Mutation_p.E131K			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	157						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GATTACCTTTCAGCTTCCTCA	0.413000													5	72					0	0	0.248553	0	0
TEAD4	7004	broad.mit.edu	37	12	3104006	3104006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:3104006C>T	ENST00000359864.2	+	3	264	c.74C>T	c.(73-75)tCt>tTt	p.S25F	TEAD4_ENST00000358409.2_Missense_Mutation_p.S25F|TEAD4_ENST00000397122.2_Intron	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	25					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AGCACCGCCTCTGGGGGCAGT	0.647000													27	202					0	0	0.796494	0	0
HOXD13	3239	broad.mit.edu	37	2	176958257	176958257	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:176958257C>T	ENST00000392539.3	+	1	639	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	213					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TGTCCACTTTCGGCTCCGGGG	0.617000			T	NUP98	AML*								10	142					0	0	0.435327	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072312	63072312	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:63072312G>A	ENST00000332793.6	+	9	1551	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	517						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTCCTACCAGAAACCAAGAA	0.433000													12	55					0	0	0.435327	0	0
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716000													6	35					0	0	0.307466	0	0
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:38591931C>G	ENST00000413689.1	-	28	6125	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602000													3	69					0	0	0.115264	0	0
AKAP9	10142	broad.mit.edu	37	7	91631200	91631200	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:91631200G>C	ENST00000359028.2	+	9	2230	c.2005G>C	c.(2005-2007)Gat>Cat	p.D669H	AKAP9_ENST00000356239.3_Missense_Mutation_p.D657H|AKAP9_ENST00000358100.2_Missense_Mutation_p.D669H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	669	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAACTTAAAGATAATTTAGG	0.323000			T	BRAF	papillary thyroid								4	21					0	0	0.184627	0	0
PRDX6	9588	broad.mit.edu	37	1	173454533	173454533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:173454533G>A	ENST00000340385.5	+	3	418	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	96	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	p.E96*(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						AGAGCCCACAGAAAAGTTACC	0.438000													3	37					0	0	0.150653	0	0
LRP4	4038	broad.mit.edu	37	11	46917828	46917828	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:46917828C>T	ENST00000378623.1	-	9	1223	c.981G>A	c.(979-981)caG>caA	p.Q327Q		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	327	LDL-receptor class A 8.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACAGCTTCCTCTGCCCAATGC	0.597000													23	122					0	0	0.654019	0	0
TNXB	7148	broad.mit.edu	37	6	32053680	32053680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32053680C>T	ENST00000375244.3	-	7	3196	c.2995G>A	c.(2995-2997)Gag>Aag	p.E999K	TNXB_ENST00000375247.2_Missense_Mutation_p.E999K			P22105	TENX_HUMAN	tenascin XB	1086	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCGGCCCCTCGGGCACCCGC	0.662000													26	185					0	0	0.804634	0	0
SIKE1	80143	broad.mit.edu	37	1	115319033	115319033	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:115319033C>T	ENST00000369528.5	-	4	545	c.468G>A	c.(466-468)atG>atA	p.M156I	SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000060969.5_Missense_Mutation_p.M152I	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	152						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTGCTTTCCTCATCACTTCTC	0.363000													8	156					0	0	0.335167	0	0
MYCN	4613	broad.mit.edu	37	2	16085691	16085691	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:16085691C>T	ENST00000281043.3	+	3	1164	c.867C>T	c.(865-867)tcC>tcT	p.S289S		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	289					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GTTCCTCCTCCAACACCAAGG	0.532000			A		neuroblastoma								12	73					0	0	0.411799	0	0
DOCK7	85440	broad.mit.edu	37	1	63005436	63005436	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:63005436G>A	ENST00000251157.5	-	26	3206	c.3173C>T	c.(3172-3174)tCa>tTa	p.S1058L	DOCK7_ENST00000340370.5_Missense_Mutation_p.S1027L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1058					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						CTGAAATCGTGAAACTATATC	0.343000													3	23					0	0	0.115264	0	0
GPR116	221395	broad.mit.edu	37	6	46851331	46851331	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:46851331G>A	ENST00000283296.7	-	6	865	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	GPR116_ENST00000362015.4_Missense_Mutation_p.L193F|GPR116_ENST00000456426.2_Missense_Mutation_p.L193F|GPR116_ENST00000265417.7_Missense_Mutation_p.L193F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	193	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GACCTATAGAGGGCGGAGGAA	0.428000													6	36					0	0	0.278610	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644600	20644600	+	RNA	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:20644600C>G	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTGCACCGCTCTTCACCAGGG	0.627000													7	24					0	0	0.335167	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317490	30317490	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:30317490C>G	ENST00000375377.1	-	3	1688	c.1587G>C	c.(1585-1587)gtG>gtC	p.V529V		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	529										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						GGCTGCCTCTCACATCAGGCC	0.612000													32	217					0	0	0.819951	0	0
GRIK5	2901	broad.mit.edu	37	19	42509942	42509942	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42509942G>A	ENST00000262895.3	-	16	2195	c.2196C>T	c.(2194-2196)ctC>ctT	p.L732L	GRIK5_ENST00000301218.4_Silent_p.L732L|GRIK5_ENST00000593562.1_Silent_p.L732L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	732						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GGTTGCAGTTGAGGCGCCGGT	0.622000													6	50					0	0	0.248553	0	0
PKD2L1	9033	broad.mit.edu	37	10	102058407	102058407	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:102058407C>G	ENST00000318222.3	-	4	1025	c.643G>C	c.(643-645)Gac>Cac	p.D215H	PKD2L1_ENST00000353274.3_Missense_Mutation_p.D215H|PKD2L1_ENST00000338519.3_Missense_Mutation_p.D215H	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	215					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCCGGAAGTCTTCATGCACC	0.542000													53	117					0	0	0.870114	0	0
SRRM2	23524	broad.mit.edu	37	16	2812166	2812166	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2812166G>C	ENST00000301740.8	+	11	2186	c.1637G>C	c.(1636-1638)aGa>aCa	p.R546T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	546	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTAGGAGCAGAAATACCCAG	0.597000													4	31					0	0	0.217242	0	0
RSC1A1	6248	broad.mit.edu	37	1	15986581	15986581	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15986581C>A	ENST00000345034.1	+	1	218	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	73					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAACATCTTTCTTTACAAGAT	0.428000													11	52					9.31168e-06	9.65002e-06	0.435327	1	0
IGLV2-14	28815	broad.mit.edu	37	22	23101576	23101576	+	RNA	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:23101576C>T	ENST00000390312.2	+	0	271																											AATCGGCCCTCAGGGGTTTCT	0.537000													24	214					0	0	0.706142	0	0
LRPAP1	4043	broad.mit.edu	37	4	3516565	3516565	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:3516565C>G	ENST00000500728.2	-	7	1071	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	309	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CCCACGCTCTCTGCGTGCCTC	0.632000													19	148					0	0	0.592651	0	0
CHD2	1106	broad.mit.edu	37	15	93522446	93522446	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:93522446C>T	ENST00000394196.4	+	22	3877	c.2809C>T	c.(2809-2811)Cat>Tat	p.H937Y	CHD2_ENST00000557381.1_Missense_Mutation_p.H937Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	937	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGTATTAGATCATCTGGTGAT	0.473000													59	219					0	0	0.870114	0	0
NMT2	9397	broad.mit.edu	37	10	15175327	15175327	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:15175327C>G	ENST00000378165.4	-	4	507	c.427G>C	c.(427-429)Gat>Cat	p.D143H	NMT2_ENST00000535341.1_Missense_Mutation_p.D130H|NMT2_ENST00000378150.1_Missense_Mutation_p.D130H|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	143					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	p.D143H(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTGTCTTTATCTGGTTCAATT	0.398000													10	85					0	0	0.457914	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6954349	6954349	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrY:6954349G>A	ENST00000383032.1	+	16	1818	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	TBL1Y_ENST00000355162.2_Missense_Mutation_p.D391N|TBL1Y_ENST00000346432.3_Missense_Mutation_p.D391N	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	391					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TATGAAGCAGGATGCATGCGT	0.547000													15	43					0	0	0.520397	0	0
GUCY2D	3000	broad.mit.edu	37	17	7910802	7910802	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:7910802G>T	ENST00000254854.4	+	6	1672	c.1522G>T	c.(1522-1524)Gac>Tac	p.D508Y		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	508					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CCTGACCGTGGACGACATCAC	0.562000													38	189					1.19451e-25	1.29094e-25	0.870114	1	0
ZNF846	162993	broad.mit.edu	37	19	9873968	9873968	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9873968G>A	ENST00000397902.2	-	3	545	c.132C>T	c.(130-132)ctC>ctT	p.L44L	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_Silent_p.L44L|ZNF846_ENST00000588267.1_5'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CTAGTATAATGAGATTCTTGT	0.408000													8	61					0	0	0.387290	0	0
ETFB	2109	broad.mit.edu	37	19	51848565	51848565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:51848565G>A	ENST00000354232.4	-	5	3408	c.941C>T	c.(940-942)tCt>tTt	p.S314F	ETFB_ENST00000309244.4_Missense_Mutation_p.S223F|CTD-2616J11.9_ENST00000600974.1_RNA	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	223					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ACTGATCACAGAGAGCTTGGA	0.592000													11	88					0	0	0.387290	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46942258	46942258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:46942258G>A	ENST00000429979.1	-	5	1349	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	KIAA0226L_ENST00000409879.2_Nonsense_Mutation_p.Q92*|KIAA0226L_ENST00000378784.4_Nonsense_Mutation_p.Q182*|KIAA0226L_ENST00000378797.2_Nonsense_Mutation_p.Q249*|KIAA0226L_ENST00000389908.3_Nonsense_Mutation_p.Q249*|KIAA0226L_ENST00000322896.6_Nonsense_Mutation_p.Q92*|KIAA0226L_ENST00000378781.3_Nonsense_Mutation_p.Q249*|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.Q249*|KIAA0226L_ENST00000534925.1_Nonsense_Mutation_p.Q114*	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	249										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GAGTCAGGCTGATCACTCCCA	0.408000													16	83					0	0	0.592651	0	0
GLRA2	2742	broad.mit.edu	37	X	14708969	14708969	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:14708969G>A	ENST00000218075.4	+	8	1598	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	GLRA2_ENST00000355020.4_Silent_p.K356K|GLRA2_ENST00000443437.2_Silent_p.K267K	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	356					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GAAGACAGAAGAGGCAGAATA	0.468000													7	48					0	0	0.335167	0	0
NOXRED1	122945	broad.mit.edu	37	14	77872309	77872309	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:77872309C>G	ENST00000380835.2	-	5	1018	c.852G>C	c.(850-852)ttG>ttC	p.L284F		NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	284					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTGTTAATTGCAACTTTGGGC	0.473000													3	27					0	0	0.184627	0	0
TTC21B	79809	broad.mit.edu	37	2	166797590	166797590	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:166797590C>T	ENST00000243344.7	-	6	794	c.657G>A	c.(655-657)atG>atA	p.M219I	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	219						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GTTGTAATTTCATTTTCTTAA	0.403000													4	21					0	0	0.184627	0	0
C9orf84	158401	broad.mit.edu	37	9	114454446	114454446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:114454446G>C	ENST00000394779.3	-	23	3746	c.3502C>G	c.(3502-3504)Cta>Gta	p.L1168V	C9orf84_ENST00000394777.4_Missense_Mutation_p.L1133V|C9orf84_ENST00000374287.3_Missense_Mutation_p.L1207V|C9orf84_ENST00000318737.4_Missense_Mutation_p.L1207V	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1207										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATATTAATTAGAAAAGGAGTA	0.373000													6	28					0	0	0.217242	0	0
HRNR	388697	broad.mit.edu	37	1	152193967	152193967	+	Splice_Site	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152193967C>A	ENST00000368801.2	-	3	214		c.e3-1		FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin						keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTTTGGATTCTGTATAAGAG	0.363000													3	40					0.115264	0.116328	0.115264	1	0
SRRM2	23524	broad.mit.edu	37	16	2812176	2812176	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2812176G>A	ENST00000301740.8	+	11	2196	c.1647G>A	c.(1645-1647)caG>caA	p.Q549Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	549	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAATACCCAGAGAAGAGGCA	0.612000													5	31					0	0	0.248553	0	0
STAT3	6774	broad.mit.edu	37	17	40481591	40481591	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:40481591G>A	ENST00000264657.5	-	13	1526	c.1214C>T	c.(1213-1215)tCt>tTt	p.S405F	STAT3_ENST00000389272.3_Missense_Mutation_p.S307F|STAT3_ENST00000404395.3_Missense_Mutation_p.S405F|STAT3_ENST00000588969.1_Missense_Mutation_p.S405F|STAT3_ENST00000585517.1_Missense_Mutation_p.S405F	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	405					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GAATTCTGCAGAGAGGCTGCC	0.507000									Hyperimmunoglobulin E Recurrent Infection Syndrome				10	102					0	0	0.457914	0	0
TRIM62	55223	broad.mit.edu	37	1	33613176	33613176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:33613176C>A	ENST00000291416.5	-	5	1263	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	TRIM62_ENST00000543586.1_Nonsense_Mutation_p.E223*	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	344	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CTGAAGGCTTCAGAACCCAGC	0.622000													7	81					0.00829132	0.00843926	0.361761	1	0
KANK2	25959	broad.mit.edu	37	19	11286644	11286644	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:11286644G>A	ENST00000432929.2	-	8	2166	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L	KANK2_ENST00000589359.1_Silent_p.L602L|KANK2_ENST00000355150.5_Silent_p.L594L|KANK2_ENST00000586659.1_Silent_p.L594L|KANK2_ENST00000589894.1_Silent_p.L594L	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	594										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGCTGAGATGAGGTCAGGGC	0.607000													14	152					0	0	0.539581	0	0
ANK3	288	broad.mit.edu	37	10	61833285	61833285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:61833285C>G	ENST00000280772.2	-	37	7545	c.7354G>C	c.(7354-7356)Gag>Cag	p.E2452Q	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGACAACTCATCGTCATGG	0.403000													8	39					0	0	0.278610	0	0
GMEB1	10691	broad.mit.edu	37	1	29030720	29030720	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:29030720C>T	ENST00000373816.1	+	8	885	c.747C>T	c.(745-747)ttC>ttT	p.F249F	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Silent_p.F259F|GMEB1_ENST00000361872.4_Silent_p.F249F	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGATGTTCTGGAAAGGAA	0.433000													6	109					0	0	0.217242	0	0
TIMELESS	8914	broad.mit.edu	37	12	56816720	56816720	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56816720G>C	ENST00000229201.4	-	19	2500	c.2346C>G	c.(2344-2346)gtC>gtG	p.V782V	TIMELESS_ENST00000553532.1_Silent_p.V783V|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	783					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTTTTGGTTGACTGCAGCCA	0.493000													6	85					0	0	0.278610	0	0
LPHN2	23266	broad.mit.edu	37	1	82434966	82434966	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:82434966C>T	ENST00000370728.1	+	17	3261	c.2616C>T	c.(2614-2616)ttC>ttT	p.F872F	LPHN2_ENST00000271029.4_Silent_p.F872F|LPHN2_ENST00000394879.1_Silent_p.F859F|LPHN2_ENST00000370713.1_Silent_p.F859F|LPHN2_ENST00000370727.1_Silent_p.F872F|LPHN2_ENST00000370717.2_Silent_p.F872F|LPHN2_ENST00000370725.1_Silent_p.F872F|LPHN2_ENST00000370721.1_Silent_p.F797F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Silent_p.F859F|LPHN2_ENST00000319517.6_Silent_p.F859F|LPHN2_ENST00000335786.5_Silent_p.F872F|LPHN2_ENST00000370730.1_Silent_p.F872F|LPHN2_ENST00000359929.3_Silent_p.F859F|LPHN2_ENST00000370715.1_Silent_p.F859F			O95490	LPHN2_HUMAN	latrophilin 2	872					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCTGCTTTTTCCGTGGCCTAC	0.393000													11	109					0	0	0.435327	0	0
KCNH3	23416	broad.mit.edu	37	12	49934725	49934725	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:49934725C>T	ENST00000257981.6	+	2	380	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	40	PAS.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGGGGCTCTTCCCCGTGGTCT	0.632000													9	72					0	0	0.411799	0	0
CACNG5	27091	broad.mit.edu	37	17	64880760	64880760	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:64880760C>T	ENST00000533854.1	+	5	789	c.552C>T	c.(550-552)atC>atT	p.I184I	CACNG5_ENST00000169565.3_Silent_p.I184I|CACNG5_ENST00000307139.3_Silent_p.I184I			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	184					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TCGCCGCCATCTCCTTCCTTT	0.552000													19	108					0	0	0.624587	0	0
KALRN	8997	broad.mit.edu	37	3	124211637	124211637	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124211637G>A	ENST00000360013.3	+	32	4861	c.4734G>A	c.(4732-4734)gtG>gtA	p.V1578V	KALRN_ENST00000240874.3_Silent_p.V1578V|KALRN_ENST00000460856.1_Silent_p.V1569V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1578	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCGAGAAGTGATTCAAGAAA	0.468000													7	87					0	0	0.307466	0	0
NFKBIE	4794	broad.mit.edu	37	6	44227806	44227806	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:44227806C>T	ENST00000275015.5	-	5	1410	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	471					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGGGCGTCTCATCCTCCACA	0.587000													16	103					0	0	0.575678	0	0
ADCY10	55811	broad.mit.edu	37	1	167849781	167849781	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167849781G>A	ENST00000367848.1	-	10	1308	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	ADCY10_ENST00000545172.1_Silent_p.L210L|ADCY10_ENST00000367851.4_Silent_p.L363L			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	363					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCACATTCCAGAGCATGAGTG	0.522000													12	93					0	0	0.387290	0	0
LAMA4	3910	broad.mit.edu	37	6	112476811	112476811	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:112476811C>T	ENST00000230538.7	-	15	2312	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	LAMA4_ENST00000424408.2_Missense_Mutation_p.E632K|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.E632K|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.E632K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	639	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTGCTGTTTCATTGGCTTCA	0.388000													18	91					0	0	0.624587	0	0
RBM26	64062	broad.mit.edu	37	13	79943032	79943032	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:79943032G>C	ENST00000438737.2	-	6	1168	c.728C>G	c.(727-729)tCt>tGt	p.S243C	RBM26_ENST00000267229.7_Missense_Mutation_p.S243C|RBM26_ENST00000438724.1_Missense_Mutation_p.S243C			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	243					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTAGTGGCCAGATGAAATACT	0.393000													8	80					0	0	0.387290	0	0
HTR1A	3350	broad.mit.edu	37	5	63257087	63257087	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:63257087C>T	ENST00000323865.3	-	1	693	c.460G>A	c.(460-462)Gct>Act	p.A154T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	154				RAA -> PR (in Ref. 1; AAA36440/CAA31908).	behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATGAGCGCAGCGGCGCGCCGG	0.647000													17	60					0	0	0.500413	0	0
ABCG1	9619	broad.mit.edu	37	21	43704787	43704787	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:43704787C>T	ENST00000398437.1	+	8	1438	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	ABCG1_ENST00000347800.2_Silent_p.F281F|ABCG1_ENST00000398449.3_Silent_p.F284F|ABCG1_ENST00000343687.3_Silent_p.F295F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.F286F|ABCG1_ENST00000340588.4_Silent_p.F392F|ABCG1_ENST00000361802.2_Silent_p.F284F			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	284	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCGAGCTGTTCGACCAGGTAC	0.612000													42	221					0	0	0.870114	0	0
IGF2R	3482	broad.mit.edu	37	6	160477479	160477479	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:160477479C>G	ENST00000356956.1	+	20	2866	c.2718C>G	c.(2716-2718)ctC>ctG	p.L906L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	906					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCTTTTCTCTCAACTGGGAGT	0.488000													19	137					0	0	0.608945	0	0
DNAH3	55567	broad.mit.edu	37	16	20999081	20999081	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:20999081G>C	ENST00000261383.3	-	46	6815	c.6816C>G	c.(6814-6816)gtC>gtG	p.V2272V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2272	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAGGTTAAAGACGTAATGTG	0.483000													13	78					0	0	0.457914	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6896547	6896547	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:6896547C>G	ENST00000419673.2	+	15	1692	c.1475C>G	c.(1474-1476)tCc>tGc	p.S492C	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S487C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S492C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S474C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S651C|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.S651C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S599C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S492C	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	474					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCACTTCTCTCCAAGGTGTCC	0.443000													13	67					0	0	0.479597	0	0
GIPR	2696	broad.mit.edu	37	19	46174547	46174547	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:46174547C>T	ENST00000590918.1	+	4	276	c.177C>T	c.(175-177)ctC>ctT	p.L59L	GIPR_ENST00000263281.3_Silent_p.L59L|GIPR_ENST00000304207.8_Intron	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	59					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCCCAGGCCTCGCCTGTAACG	0.667000													24	185					0	0	0.681144	0	0
GTF2H4	2968	broad.mit.edu	37	6	30881724	30881724	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:30881724C>T	ENST00000259895.4	+	14	1576	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	GTF2H4_ENST00000376316.2_Silent_p.V451V	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	451					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACAGCGACGTCAAGCGCTTTT	0.677000								Nucleotide excision repair (NER)					7	44					0	0	0.307466	0	0
LY9	4063	broad.mit.edu	37	1	160793302	160793302	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:160793302G>C	ENST00000368037.5	+	8	1618	c.1504G>C	c.(1504-1506)Gag>Cag	p.E502Q	LY9_ENST00000368040.1_Missense_Mutation_p.E154Q|LY9_ENST00000263285.6_Missense_Mutation_p.E516Q|LY9_ENST00000368041.2_Missense_Mutation_p.E386Q|LY9_ENST00000392203.4_Missense_Mutation_p.E426Q|LY9_ENST00000341032.4_Missense_Mutation_p.E412Q	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCAAGGATATGAGAAGCTGGA	0.552000													3	71					0	0	0.115264	0	0
ARID2	196528	broad.mit.edu	37	12	46245498	46245498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:46245498C>G	ENST00000334344.6	+	15	3764	c.3592C>G	c.(3592-3594)Cca>Gca	p.P1198A	ARID2_ENST00000422737.1_Missense_Mutation_p.P1049A|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.P808A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1198					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.P1198A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCTCATTGCTCCAGCAGGAAT	0.498000			"""N, S, F"""		hepatocellular carcinoma								5	51					0	0	0.184627	0	0
GPR4	2828	broad.mit.edu	37	19	46094948	46094948	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:46094948G>A	ENST00000323040.4	-	2	1121	c.177C>T	c.(175-177)ctC>ctT	p.L59L	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	59						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGGCGATGCTGAGGTTCATCA	0.642000													9	175					0	0	0.411799	0	0
GATA1	2623	broad.mit.edu	37	X	48650256	48650256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650256C>T	ENST00000376670.3	+	3	337	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	GATA1_ENST00000376665.3_Nonsense_Mutation_p.Q76*	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	76					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74fs*60(1)|p.Q76E(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AACAGTCTTTCAGGTGTACCC	0.587000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								14	85					0	0	0.539581	0	0
SNHG14	104472715	broad.mit.edu	37	15	25318342	25318342	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:25318342G>A	ENST00000549804.2	+	0	817				SNHG14_ENST00000551077.1_RNA|SNORD116-9_ENST00000384000.1_RNA																							CATCGGAACTGAGGTCCAGCA	0.438000													15	108					0	0	0.520397	0	0
APOL2	23780	broad.mit.edu	37	22	36623580	36623580	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36623580G>C	ENST00000249066.6	-	6	1360	c.884C>G	c.(883-885)tCa>tGa	p.S295*	APOL2_ENST00000358502.5_Nonsense_Mutation_p.S295*|APOL2_ENST00000451256.2_Nonsense_Mutation_p.S407*	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	295					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CAAGTGCTTTGACTCATATGC	0.562000													29	171					0	0	0.819951	0	0
AP1B1	162	broad.mit.edu	37	22	29737585	29737585	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:29737585G>A	ENST00000357586.2	-	13	1887	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	AP1B1_ENST00000415447.1_Silent_p.I567I|AP1B1_ENST00000405198.1_Silent_p.I567I|AP1B1_ENST00000402502.1_Silent_p.I567I|AP1B1_ENST00000432560.2_Silent_p.I567I|AP1B1_ENST00000356015.2_Silent_p.I567I|AP1B1_ENST00000317368.7_Silent_p.I567I	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	567					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCAGCGTGCCGATGTAGCAGA	0.617000													17	109					0	0	0.639603	0	0
ENTPD7	57089	broad.mit.edu	37	10	101464399	101464399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:101464399G>A	ENST00000370489.4	+	13	1952	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	592						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCTGTGGCTTGAAGAGGTGGT	0.572000													12	20					0	0	0.479597	0	0
NDUFA8	4702	broad.mit.edu	37	9	124906608	124906608	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:124906608G>C	ENST00000373768.3	-	4	572	c.431C>G	c.(430-432)tCa>tGa	p.S144*	NDUFA8_ENST00000537618.1_Intron	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	144					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	TCTTGGTCTTGAGTGATAGGG	0.517000													6	84					0	0	0.307466	0	0
LYN	4067	broad.mit.edu	37	8	56922538	56922538	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:56922538G>C	ENST00000520220.2	+	13	1619	c.1345G>C	c.(1345-1347)Gat>Cat	p.D449H	LYN_ENST00000519728.1_Missense_Mutation_p.D470H	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	470	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GAACTGCCCAGATGAGCTCTA	0.483000													10	73					0	0	0.361761	0	0
ALPK2	115701	broad.mit.edu	37	18	56247584	56247584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:56247584C>T	ENST00000361673.3	-	4	637	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	142							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTTCCTTCTCATCAATCTGA	0.493000													14	93					0	0	0.575678	0	0
FRY	10129	broad.mit.edu	37	13	32709061	32709061	+	Silent	SNP	C	C	T	rs34037604		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:32709061C>T	ENST00000380250.3	+	9	1402	c.906C>T	c.(904-906)ctC>ctT	p.L302L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTACTTCCTCGAGGTCAAAG	0.388000													22	126					0	0	0.779181	0	0
SPINK2	6691	broad.mit.edu	37	4	57677932	57677932	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:57677932C>T	ENST00000506738.1	-	3	357	c.278G>A	c.(277-279)gGa>gAa	p.G93E	SPINK2_ENST00000504762.1_Missense_Mutation_p.G78E|SPINK2_ENST00000248701.4_Missense_Mutation_p.G43E	NM_001271718.1	NP_001258647.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	43						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					TCTGGGACATCCTGGTAATCT	0.393000													19	134					0	0	0.639603	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987253	15987253	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15987253C>A	ENST00000345034.1	+	1	890	c.890C>A	c.(889-891)tCa>tAa	p.S297*	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	297					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTAACCCTTCATCTGAAATT	0.383000													6	44					0.000157383	0.00016157	0.278610	1	0
NLRP7	199713	broad.mit.edu	37	19	55453052	55453052	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55453052G>A	ENST00000588756.1	-	4	514	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	NLRP7_ENST00000328092.5_Silent_p.L10L|NLRP7_ENST00000592784.1_Silent_p.L10L|NLRP7_ENST00000446217.1_Silent_p.L38L|NLRP7_ENST00000340844.2_Silent_p.L10L|NLRP7_ENST00000448121.2_Silent_p.L10L|NLRP7_ENST00000590030.1_Silent_p.L10L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	10	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGGTCTGCAGAGTCCACTCT	0.483000													5	36					0	0	0.248553	0	0
NBN	4683	broad.mit.edu	37	8	90967566	90967566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:90967566G>A	ENST00000265433.3	-	10	1496	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*	NBN_ENST00000409330.1_Nonsense_Mutation_p.Q366*	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	448	Poly-Gln.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGCTGCTGCTGAGAAGCCCTA	0.358000								Homologous recombination					9	38					0	0	0.387290	0	0
CALR	811	broad.mit.edu	37	19	13054368	13054368	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:13054368C>T	ENST00000316448.5	+	8	1051	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	326	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGCACCATCTTTGACAACT	0.527000													15	106					0	0	0.520397	0	0
WASF3	10810	broad.mit.edu	37	13	27239225	27239225	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:27239225G>A	ENST00000361042.4	+	4	419	c.194G>A	c.(193-195)aGa>aAa	p.R65K	WASF3_ENST00000335327.5_Missense_Mutation_p.R65K|WASF3_ENST00000496788.1_3'UTR			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	65					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTCTACATCAGAGCAAATTCT	0.423000													10	65					0	0	0.361761	0	0
SRRM2	23524	broad.mit.edu	37	16	2811715	2811715	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2811715G>A	ENST00000301740.8	+	11	1735	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	396	Pro-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCCCCATCTGAGGCCTCTCC	0.607000													21	142					0	0	0.706142	0	0
JARID2	3720	broad.mit.edu	37	6	15512483	15512483	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:15512483G>C	ENST00000341776.2	+	14	3241	c.2997G>C	c.(2995-2997)agG>agC	p.R999S	JARID2_ENST00000397311.3_Missense_Mutation_p.R827S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	999	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGGTGCACAGGACCGTGCAGC	0.607000													12	87					0	0	0.411799	0	0
TLR9	54106	broad.mit.edu	37	3	52256256	52256256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:52256256C>T	ENST00000494383.1	-	5	2535	c.2536G>A	c.(2536-2538)Gac>Aac	p.D846N	TLR9_ENST00000360658.2_Silent_p.L692L|TLR9_ENST00000597542.1_Silent_p.L716L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGCCATTGGTCAGGGCCTTCA	0.602000													10	76					0	0	0.435327	0	0
UBOX5	22888	broad.mit.edu	37	20	3090835	3090835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:3090835C>T	ENST00000217173.2	-	5	2014	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.E461K	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	515						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CGTTGCTTCTCACCCAGGCAG	0.607000													17	215					0	0	0.575678	0	0
XRN2	22803	broad.mit.edu	37	20	21309207	21309207	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:21309207C>G	ENST00000377191.3	+	4	421	c.326C>G	c.(325-327)gCt>gGt	p.A109G	XRN2_ENST00000539513.1_Missense_Mutation_p.A55G|XRN2_ENST00000430571.2_Missense_Mutation_p.A33G	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	109				A -> V (in Ref. 1; AAD55138/AAQ13577).	cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GCACCACGTGCTAAAATGAAC	0.383000													3	23					0	0	0.115264	0	0
SEPT4	5414	broad.mit.edu	37	17	56606496	56606496	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:56606496C>T	ENST00000317268.3	-	1	216	c.40G>A	c.(40-42)Gag>Aag	p.E14K	SEPT4_ENST00000317256.6_Intron|SEPT4_ENST00000579371.1_Missense_Mutation_p.E14K|SEPT4_ENST00000580844.1_Missense_Mutation_p.E14K|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_Intron|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000426861.1_Intron|SEPT4_ENST00000412945.3_Intron|SEPT4_ENST00000457347.2_Intron	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	14					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCCTGTCCTCAGGGACAGAA	0.552000													24	132					0	0	0.804634	0	0
APOL2	23780	broad.mit.edu	37	22	36623761	36623761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36623761G>A	ENST00000249066.6	-	6	1179	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	APOL2_ENST00000358502.5_Nonsense_Mutation_p.Q235*|APOL2_ENST00000451256.2_Nonsense_Mutation_p.Q347*	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	235					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCTCCTAACTGAGGGTTGGCT	0.542000													31	213					0	0	0.769981	0	0
OR2F2	135948	broad.mit.edu	37	7	143632802	143632802	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:143632802G>A	ENST00000408955.2	+	1	544	c.477G>A	c.(475-477)caG>caA	p.Q159Q		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTCTTGTGCAGACTGCTATCA	0.527000													14	93					0	0	0.520397	0	0
SPRR4	163778	broad.mit.edu	37	1	152944534	152944534	+	Silent	SNP	G	G	A	rs147360157		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152944534G>A	ENST00000328051.2	+	2	217	c.168G>A	c.(166-168)ccG>ccA	p.P56P		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	56	Gln-rich.				keratinization|peptide cross-linking	cell cortex		p.P56P(1)		lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATGCCCACCGAAAGGCACCA	0.522000													15	151					0	0	0.520397	0	0
TMEM199	147007	broad.mit.edu	37	17	26687798	26687798	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:26687798C>G	ENST00000292114.3	+	5	549	c.459C>G	c.(457-459)ttC>ttG	p.F153L	TMEM199_ENST00000509083.1_Missense_Mutation_p.F153L|TMEM199_ENST00000395404.3_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	153						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCTTCAATTTCATTGTCACGG	0.502000													14	108					0	0	0.592651	0	0
SCUBE3	222663	broad.mit.edu	37	6	35216389	35216389	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:35216389C>T	ENST00000274938.7	+	22	2889	c.2889C>T	c.(2887-2889)ttC>ttT	p.F963F	SCUBE3_ENST00000394681.1_Silent_p.F979F	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	963					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGAACTACTTCAAGTACACAG	0.522000													18	115					0	0	0.557998	0	0
IKZF3	22806	broad.mit.edu	37	17	37947692	37947692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37947692G>A	ENST00000346872.3	-	5	630	c.569C>T	c.(568-570)aCg>aTg	p.T190M	IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000351680.3_Missense_Mutation_p.T190M|IKZF3_ENST00000346243.3_Missense_Mutation_p.T190M|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000377958.2_Missense_Mutation_p.T103M|IKZF3_ENST00000535189.1_Missense_Mutation_p.T156M|IKZF3_ENST00000350532.3_Missense_Mutation_p.T190M|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000439167.2_Missense_Mutation_p.T156M	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	190					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGATGCCCCGTGAGCGCATC	0.463000													8	141					0	0	0.539581	0	0
COG4	25839	broad.mit.edu	37	16	70517820	70517820	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:70517820G>A	ENST00000323786.5	-	14	1784	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	584				S -> G (in Ref. 2; BAB14286/BAG59950).	Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GTCAAACTTGGCCTGGGCCTG	0.582000													21	120					0	0	0.624587	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64694350	64694350	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64694350C>T	ENST00000164133.2	+	3	988	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	122					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.I122I(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GTGTCCTCATCGAGCCCGTCT	0.662000													10	76					0	0	0.361761	0	0
NLRP10	338322	broad.mit.edu	37	11	7982410	7982410	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:7982410C>T	ENST00000328600.2	-	2	910	c.749G>A	c.(748-750)gGc>gAc	p.G250D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	250	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCATCAAAGCCATCCAGGAT	0.527000													4	51					0	0	0.217242	0	0
ASH1L	55870	broad.mit.edu	37	1	155450002	155450002	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155450002G>C	ENST00000368346.3	-	3	3298	c.2659C>G	c.(2659-2661)Cca>Gca	p.P887A	ASH1L_ENST00000392403.3_Missense_Mutation_p.P887A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	887					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTCTTTTTTGGAAAAGGAGAC	0.443000													6	69					0	0	0.335167	0	0
ANAPC4	29945	broad.mit.edu	37	4	25395483	25395483	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:25395483G>C	ENST00000315368.3	+	11	988	c.846G>C	c.(844-846)caG>caC	p.Q282H	ANAPC4_ENST00000510092.1_Missense_Mutation_p.Q282H	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	282					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TACTAATGCAGATGGATTCTC	0.333000													4	43					0	0	0.248553	0	0
USP47	55031	broad.mit.edu	37	11	11924404	11924404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:11924404G>A	ENST00000339865.5	+	5	1295	c.532G>A	c.(532-534)Gag>Aag	p.E178K	USP47_ENST00000399455.2_Missense_Mutation_p.E266K|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.E246K	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	266					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGATAGTAGTGAGGGTACTAA	0.323000													9	44					0	0	0.387290	0	0
VLDLR	7436	broad.mit.edu	37	9	2652822	2652822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:2652822G>A	ENST00000382100.3	+	18	2815	c.2459G>A	c.(2458-2460)cGg>cAg	p.R820Q	VLDLR_ENST00000382099.2_Missense_Mutation_p.R792Q	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TTGATGTGGCGGAATTGGCAA	0.423000													10	80					0	0	0.435327	0	0
PTPN13	5783	broad.mit.edu	37	4	87730928	87730928	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:87730928G>C	ENST00000436978.1	+	46	7585	c.7105G>C	c.(7105-7107)Gag>Cag	p.E2369Q	PTPN13_ENST00000427191.2_Missense_Mutation_p.E2345Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.E2369Q|PTPN13_ENST00000316707.6_Missense_Mutation_p.E2173Q|PTPN13_ENST00000411767.2_Missense_Mutation_p.E2364Q	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2364	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGACCAGAGAGGTGCGCCA	0.378000													11	70					0	0	0.479597	0	0
LGALS4	3960	broad.mit.edu	37	19	39292471	39292471	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39292471G>A	ENST00000307751.4	-	10	1382	c.905C>T	c.(904-906)tCg>tTg	p.S302L		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	302	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding	p.S302L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGGAAGGCCGAGAGGCGATG	0.532000													11	85					0	0	0.435327	0	0
NUP62	23636	broad.mit.edu	37	19	50413062	50413062	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:50413062C>T	ENST00000596217.1	-	2	1890	c.3G>A	c.(1-3)atG>atA	p.M1I	NUP62_ENST00000422090.2_Start_Codon_SNP_p.M1I|NUP62_ENST00000597723.1_Start_Codon_SNP_p.M1I|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'UTR|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Start_Codon_SNP_p.M1I|NUP62_ENST00000597029.1_Start_Codon_SNP_p.M1I|NUP62_ENST00000352066.3_Start_Codon_SNP_p.M1I|CTC-326K19.6_ENST00000451973.1_3'UTR			P37198	NUP62_HUMAN	nucleoporin 62kDa	1	15 X 9 AA approximate repeats.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAAACCCGCTCATGGCTCCGG	0.547000													7	58					0	0	0.411799	0	0
CREB3L3	84699	broad.mit.edu	37	19	4154998	4154998	+	Missense_Mutation	SNP	G	G	A	rs143652660		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4154998G>A	ENST00000078445.2	+	2	277	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CREB3L3_ENST00000602147.1_Missense_Mutation_p.E44K|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E44K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E35K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E44K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	44					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCTGGGCGAGGGCTGGGG	0.642000													28	181					0	0	0.796494	0	0
GNL2	29889	broad.mit.edu	37	1	38041280	38041280	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:38041280C>T	ENST00000373062.3	-	10	1157	c.1059G>A	c.(1057-1059)ttG>ttA	p.L353L		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	353	G.				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TCCGACGCATCAAAGTAATAT	0.438000													10	67					0	0	0.435327	0	0
WDR65	149465	broad.mit.edu	37	1	43675708	43675708	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:43675708C>T	ENST00000528956.1	+	11	2196	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	WDR65_ENST00000372492.4_Intron	NM_001167965.1|NM_152498.3	NP_001161437.1|NP_689711.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	0										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTCATCCATCATTCATTGAA	0.393000													5	52					0	0	0.217242	0	0
FAM83G	644815	broad.mit.edu	37	17	18881778	18881778	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:18881778G>A	ENST00000388995.6	-	5	1424	c.1201C>T	c.(1201-1203)Cac>Tac	p.H401Y	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.H401Y|FAM83G_ENST00000345041.4_Missense_Mutation_p.H401Y|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	401										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCTCCAGGTGAAGCAGTCCT	0.637000													3	13					0	0	0.115264	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7523533	7523533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:7523533G>A	ENST00000359920.6	+	9	2006	c.1753G>A	c.(1753-1755)Gac>Aac	p.D585N	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.D427N|CTD-2207O23.3_ENST00000593531.1_Silent_p.R542R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	585	PH.				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)				CTCCAAAGAGGACAGGAACGC	0.582000													8	46					0	0	0.335167	0	0
MTBP	27085	broad.mit.edu	37	8	121514760	121514760	+	Silent	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:121514760A>G	ENST00000305949.1	+	15	1683	c.1638A>G	c.(1636-1638)tcA>tcG	p.S546S		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	546	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTAATTCCTCAAGTCTAATGG	0.299000													3	14					0	0	0.115264	0	0
TRIL	9865	broad.mit.edu	37	7	28996953	28996953	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:28996953G>A	ENST00000322982.3	-	0	981							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GTTGTTGGCCGAGAGGATGAG	0.677000													17	148					0	0	0.539581	0	0
VPS11	55823	broad.mit.edu	37	11	118948904	118948904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:118948904C>T	ENST00000300793.6	+	12	1822	c.1780C>T	c.(1780-1782)Ccc>Tcc	p.P594S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	595					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGAGTTCATCCCCATCTTTGC	0.527000													23	260					0	0	0.706142	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870633	129870633	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:129870633C>T	ENST00000373425.3	-	2	995	c.378G>A	c.(376-378)gaG>gaA	p.E126E	RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	126					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGTTGCGGCTCTCCTTGCGCA	0.612000													10	41					0	0	0.411799	0	0
XKR7	343702	broad.mit.edu	37	20	30585240	30585240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:30585240G>A	ENST00000562532.2	+	3	1894	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGCTGCTGGAGTATGAGAC	0.617000													9	90					0	0	0.335167	0	0
LRRC28	123355	broad.mit.edu	37	15	99892583	99892583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:99892583G>A	ENST00000301981.3	+	7	842	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000422500.2_Missense_Mutation_p.R132Q|LRRC28_ENST00000447360.2_Missense_Mutation_p.R201Q|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000331450.5_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	201										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GATTTAGGTCGATCTCGAGAA	0.348000													12	106					0	0	0.479597	0	0
WDR70	55100	broad.mit.edu	37	5	37516654	37516654	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:37516654C>T	ENST00000265107.4	+	9	1035	c.879C>T	c.(877-879)ccC>ccT	p.P293P	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Silent_p.P293P	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	293								p.P293P(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATGGCATCCCAAAATAAAGG	0.303000													8	45					0	0	0.435327	0	0
LRRC16A	55604	broad.mit.edu	37	6	25466165	25466165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:25466165G>A	ENST00000329474.6	+	9	1047	c.679G>A	c.(679-681)Gat>Aat	p.D227N	LRRC16A_ENST00000377969.3_Missense_Mutation_p.D66N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	227					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTCCTCTAAGGATCTAAAACT	0.363000													19	171					0	0	0.575678	0	0
ZNF607	84775	broad.mit.edu	37	19	38190626	38190626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:38190626G>A	ENST00000355202.4	-	5	1001	c.406C>T	c.(406-408)Cat>Tat	p.H136Y	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H135Y	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCACTAGTATGAATTGTTTGA	0.373000													11	83					0	0	0.457914	0	0
KRT26	353288	broad.mit.edu	37	17	38928361	38928361	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:38928361G>C	ENST00000335552.4	-	1	53	c.5C>G	c.(4-6)tCt>tGt	p.S2C		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	2	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AAGTCGAAAAGACATGGTGGC	0.547000													15	92					0	0	0.479597	0	0
ZNF165	7718	broad.mit.edu	37	6	28056916	28056916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:28056916G>A	ENST00000377325.1	+	4	1682	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	376					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E376K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGAATGTAATGAATGTGGGAA	0.443000													6	70					0	0	0.335167	0	0
TTPAL	79183	broad.mit.edu	37	20	43113071	43113071	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43113071G>A	ENST00000372904.3	+	4	683	c.540G>A	c.(538-540)gtG>gtA	p.V180V	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Silent_p.V180V	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	180	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAACCCAGGTGAATGGAATTG	0.403000													6	89					0	0	0.248553	0	0
MTCH2	23788	broad.mit.edu	37	11	47660529	47660529	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:47660529G>C	ENST00000302503.3	-	2	319	c.162C>G	c.(160-162)ctC>ctG	p.L54L	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	54					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CATAACTAAAGAGACCAGGAA	0.383000													13	43					0	0	0.520397	0	0
ANGPT4	51378	broad.mit.edu	37	20	853663	853663	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:853663G>T	ENST00000381922.3	-	9	1554	c.1452C>A	c.(1450-1452)ttC>ttA	p.F484L	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	484	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGGGGCCCTTGAAGTAGTGCC	0.577000													9	99					5.50884e-06	5.72256e-06	0.411799	1	0
ADPRM	56985	broad.mit.edu	37	17	10608412	10608412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:10608412G>A	ENST00000379774.4	+	2	260	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	ADPRM_ENST00000609540.1_Missense_Mutation_p.E57K	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		GGGTGCCATTGAAGACTGGAA	0.428000													13	75					0	0	0.411799	0	0
KLHL5	51088	broad.mit.edu	37	4	39116803	39116803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:39116803G>A	ENST00000261425.3	+	11	2078	c.1926G>A	c.(1924-1926)tgG>tgA	p.W642*	KLHL5_ENST00000504108.1_Nonsense_Mutation_p.W688*|KLHL5_ENST00000359687.2_Nonsense_Mutation_p.W688*|KLHL5_ENST00000261426.5_Nonsense_Mutation_p.W627*|KLHL5_ENST00000381930.3_Nonsense_Mutation_p.W688*|KLHL5_ENST00000508137.2_Nonsense_Mutation_p.W501*|RP11-360F5.1_ENST00000509449.1_RNA	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	688						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						CAGACATGTGGACTGCAGTAG	0.398000													7	82					0	0	0.361761	0	0
HDAC9	9734	broad.mit.edu	37	7	18625073	18625073	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:18625073G>A	ENST00000406451.4	+	3	342	c.192G>A	c.(190-192)ctG>ctA	p.L64L	HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000405010.3_Silent_p.L64L|HDAC9_ENST00000432645.2_Silent_p.L64L|HDAC9_ENST00000417496.2_Silent_p.L106L|HDAC9_ENST00000428307.2_Silent_p.L64L|HDAC9_ENST00000524023.1_Silent_p.L33L|HDAC9_ENST00000456174.2_Silent_p.L33L|HDAC9_ENST00000406072.1_Silent_p.L92L|HDAC9_ENST00000401921.1_Silent_p.L64L|HDAC9_ENST00000441542.2_Silent_p.L64L	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAGCTTCTGATAGCAGAGT	0.488000													8	37					0	0	0.335167	0	0
CRIM1	51232	broad.mit.edu	37	2	36669853	36669853	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:36669853G>T	ENST00000280527.2	+	4	1211	c.844G>T	c.(844-846)Gat>Tat	p.D282Y		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	282					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ACTAACTGCAGATGGTTGCTG	0.468000													21	181					6.12954e-19	6.61345e-19	0.681144	1	0
IL6	3569	broad.mit.edu	37	7	22771127	22771127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:22771127C>T	ENST00000404625.1	+	6	1033	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	IL6_ENST00000401630.3_Missense_Mutation_p.H169Y|IL6_ENST00000407492.1_Missense_Mutation_p.H116Y|IL6_ENST00000258743.5_Missense_Mutation_p.H192Y			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	192					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	CATGACAACTCATCTCATTCT	0.512000													5	50					0	0	0.184627	0	0
IKZF3	22806	broad.mit.edu	37	17	37947694	37947694	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37947694G>A	ENST00000346872.3	-	5	628	c.567C>T	c.(565-567)ctC>ctT	p.L189L	IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000351680.3_Silent_p.L189L|IKZF3_ENST00000346243.3_Silent_p.L189L|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000377958.2_Silent_p.L102L|IKZF3_ENST00000535189.1_Silent_p.L155L|IKZF3_ENST00000350532.3_Silent_p.L189L|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000439167.2_Silent_p.L155L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	189					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATGCCCCGTGAGCGCATCTC	0.468000													10	146					0	0	0.575678	0	0
EHD2	30846	broad.mit.edu	37	19	48244378	48244378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:48244378G>A	ENST00000263277.3	+	6	1572	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.E305K	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	441					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CTCGGACGACGAGGCCGAGTG	0.657000													12	89					0	0	0.500413	0	0
F5	2153	broad.mit.edu	37	1	169512269	169512269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:169512269C>T	ENST00000367796.3	-	13	2275	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N	F5_ENST00000367797.3_Missense_Mutation_p.D687N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	687	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCATCATCATCTGGGATACAT	0.398000													6	53					0	0	0.217242	0	0
LAMA3	3909	broad.mit.edu	37	18	21355773	21355773	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:21355773G>A	ENST00000313654.9	+	10	1532	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E431K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	431	Domain V.|Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTGACCCTGAGCATGCGGA	0.483000													8	25					0	0	0.335167	0	0
VPS13D	55187	broad.mit.edu	37	1	12339681	12339681	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12339681G>A	ENST00000358136.3	+	20	4706	c.4576G>A	c.(4576-4578)Gaa>Aaa	p.E1526K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1526K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1526					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATGAAGATTGAAGGAAAATT	0.333000													8	45					0	0	0.361761	0	0
TRMT2A	27037	broad.mit.edu	37	22	20102529	20102529	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:20102529G>A	ENST00000252136.7	-	5	1352	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	TRMT2A_ENST00000439169.2_Missense_Mutation_p.R322C|TRMT2A_ENST00000403707.3_Missense_Mutation_p.R322C|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.R322C	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	322					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						TGGTGGCGGCGGCTGGTGCGC	0.652000													3	21					0	0	0.115264	0	0
SCRN2	90507	broad.mit.edu	37	17	45916235	45916235	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:45916235G>C	ENST00000407215.3	-	5	775	c.694C>G	c.(694-696)Ctg>Gtg	p.L232V	SCRN2_ENST00000290216.9_Missense_Mutation_p.L232V|SCRN2_ENST00000584123.1_Missense_Mutation_p.L240V			Q96FV2	SCRN2_HUMAN	secernin 2	232					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TGCTGGGTCAGGGAGAAGATC	0.662000													27	202					0	0	0.717897	0	0
ATXN2	6311	broad.mit.edu	37	12	111957800	111957800	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:111957800G>C	ENST00000377617.3	-	8	1510	c.1349C>G	c.(1348-1350)tCa>tGa	p.S450*	ATXN2_ENST00000389153.4_Nonsense_Mutation_p.S185*|ATXN2_ENST00000542287.2_Nonsense_Mutation_p.S185*|ATXN2_ENST00000550104.1_Nonsense_Mutation_p.S450*|ATXN2_ENST00000535949.1_Nonsense_Mutation_p.S161*|ATXN2_ENST00000608853.1_Nonsense_Mutation_p.S290*	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	450					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGGCACTTGACTCAATTTC	0.428000													4	45					0	0	0.150653	0	0
MPP3	4356	broad.mit.edu	37	17	41879098	41879098	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:41879098G>A	ENST00000398393.1	-	18	2064	c.1804C>T	c.(1804-1806)Cac>Tac	p.H602Y	MPP3_ENST00000398389.4_Missense_Mutation_p.H577Y			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	577					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GGTACCCAGTGAGTGTCCTTG	0.522000													20	162					0	0	0.639603	0	0
PALM	5064	broad.mit.edu	37	19	746781	746781	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:746781G>A	ENST00000264560.7	+	8	1193	c.999G>A	c.(997-999)aaG>aaA	p.K333K	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000338448.5_Silent_p.K377K	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	377					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		TCGACATGAAGAAGCACCGTT	0.701000													4	25					0	0	0.217242	0	0
SPAG4	6676	broad.mit.edu	37	20	34203963	34203963	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:34203963C>G	ENST00000374273.3	+	1	150	c.38C>G	c.(37-39)tCg>tGg	p.S13W		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	13					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCCTCGTCCTCGCGCAAGCAC	0.677000													9	85					0	0	0.387290	0	0
ICA1	3382	broad.mit.edu	37	7	8198207	8198207	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:8198207G>A	ENST00000402384.3	-	7	921	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F	ICA1_ENST00000406470.2_Missense_Mutation_p.L219F|ICA1_ENST00000265577.7_Missense_Mutation_p.L218F|ICA1_ENST00000396675.3_Missense_Mutation_p.L219F|ICA1_ENST00000401396.1_Missense_Mutation_p.L207F|ICA1_ENST00000407906.1_Missense_Mutation_p.L219F|ICA1_ENST00000422063.2_Missense_Mutation_p.L219F			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	219	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTCGCTCCAAGAAGATCCACT	0.373000													4	58					0	0	0.150653	0	0
MROH7-TTC4	100527960	broad.mit.edu	37	1	55139782	55139782	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:55139782G>A	ENST00000414150.2	+	10	2172	c.1894G>A	c.(1894-1896)Gac>Aac	p.D632N	MROH7_ENST00000395690.2_Missense_Mutation_p.D632N|MROH7_ENST00000421030.2_Missense_Mutation_p.D632N|MROH7_ENST00000409996.1_Missense_Mutation_p.D200N|MROH7_ENST00000545244.1_Missense_Mutation_p.D200N|MROH7_ENST00000339553.5_Missense_Mutation_p.D632N|MROH7_ENST00000454855.2_Missense_Mutation_p.D150N																							TGAGGCTCTGGACGGCATCAT	0.527000													19	148					0	0	0.608945	0	0
HOXD4	3233	broad.mit.edu	37	2	177016457	177016457	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:177016457G>A	ENST00000306324.3	+	1	508	c.96G>A	c.(94-96)caG>caA	p.Q32Q	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TAGGCGAGCAGGGCGCCGACT	0.627000													8	71					0	0	0.361761	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20621418	20621418	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:20621418G>A	ENST00000202677.7	-	6	484	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGACTGCTGGGAAACCAGGCA	0.498000													7	58					0	0	0.307466	0	0
SLC30A7	148867	broad.mit.edu	37	1	101361836	101361836	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101361836C>G	ENST00000370112.4	+	1	205	c.18C>G	c.(16-18)atC>atG	p.I6M	SLC30A7_ENST00000357650.4_Missense_Mutation_p.I6M	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	6					zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		CCCTGTCCATCAAAGACGATG	0.587000													12	95					0	0	0.479597	0	0
ERAL1	26284	broad.mit.edu	37	17	27186107	27186107	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:27186107G>A	ENST00000254928.5	+	8	1183	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q		NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	362	KH type-2.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ACCTGCCCCAGGAGGTGCCTT	0.527000													13	110					0	0	0.500413	0	0
ZFP69	339559	broad.mit.edu	37	1	40945004	40945004	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:40945004G>C	ENST00000372705.3	+	2	265		c.e2-1		ZFP69_ENST00000372706.1_5'UTR	NM_198494.2	NP_940896.2			ZFP69 zinc finger protein																		TTCCTCACCAGAAGTGGACAA	0.547000													32	162					0	0	0.847076	0	0
B3GNT9	84752	broad.mit.edu	37	16	67183755	67183755	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67183755G>C	ENST00000449549.3	-	2	1169	c.634C>G	c.(634-636)Cta>Gta	p.L212V		NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	212					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GCCCAGGCTAGAAAGTGGATC	0.592000													4	15					0	0	0.150653	0	0
UVSSA	57654	broad.mit.edu	37	4	1343568	1343568	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:1343568G>A	ENST00000389851.4	+	3	802	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	UVSSA_ENST00000511216.1_Missense_Mutation_p.G119R|UVSSA_ENST00000507531.1_Missense_Mutation_p.G119R	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	119																	GGCCGTGGAAGGGTGGAATGA	0.612000													5	31					0	0	0.278610	0	0
CCDC28A	25901	broad.mit.edu	37	6	139101069	139101069	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:139101069G>C	ENST00000332797.6	+	3	694	c.539G>C	c.(538-540)aGa>aCa	p.R180T		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	180										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAGATGGAGAGAGGGCTGCTC	0.443000													12	60					0	0	0.539581	0	0
GCK	2645	broad.mit.edu	37	7	44193018	44193018	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:44193018C>T	ENST00000403799.3	-	2	559	c.90G>A	c.(88-90)ctG>ctA	p.L30L	GCK_ENST00000437084.1_Silent_p.L30L|GCK_ENST00000476008.1_5'UTR|GCK_ENST00000345378.2_Silent_p.L31L|GCK_ENST00000395796.3_Silent_p.L29L	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	30					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCACCTTCTTCAGGTCCTCCT	0.632000													54	480					0	0	0.870114	0	0
SLC5A2	6524	broad.mit.edu	37	16	31499002	31499002	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31499002C>T	ENST00000330498.3	+	7	826	c.807C>T	c.(805-807)ccC>ccT	p.P269P	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	269					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TCCGGCACCCCGTGACCGGGG	0.667000													17	80					0	0	0.592651	0	0
SART3	9733	broad.mit.edu	37	12	108954849	108954849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:108954849C>T	ENST00000228284.3	-	1	316	c.82G>A	c.(82-84)Gag>Aag	p.E28K	SART3_ENST00000546611.1_Missense_Mutation_p.E28K|SART3_ENST00000552221.1_5'UTR|SART3_ENST00000431469.2_Missense_Mutation_p.E28K	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	28					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GCCTTAACCTCATCCTCCTCT	0.612000									Porokeratosis				13	103					0	0	0.520397	0	0
METTL21C	196541	broad.mit.edu	37	13	103343304	103343304	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:103343304C>G	ENST00000267273.6	-	2	146	c.141G>C	c.(139-141)aaG>aaC	p.K47N		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	47							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGGTTCTATCTTGTTGGATT	0.393000													9	68					0	0	0.361761	0	0
MFN2	9927	broad.mit.edu	37	1	12061571	12061571	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12061571C>G	ENST00000235329.5	+	9	1252	c.930C>G	c.(928-930)ctC>ctG	p.L310L	MFN2_ENST00000444836.1_Silent_p.L310L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	310					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGGAGGTGCTCAACGCCAGGA	0.532000											OREG0013107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	30					0	0	0.307466	0	0
NAGK	55577	broad.mit.edu	37	2	71302769	71302769	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:71302769G>A	ENST00000418807.3	+	6	675	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	NAGK_ENST00000443938.2_Missense_Mutation_p.E222K|NAGK_ENST00000244204.6_Missense_Mutation_p.E222K|NAGK_ENST00000443872.2_Missense_Mutation_p.E74K|NAGK_ENST00000455662.2_Missense_Mutation_p.E268K			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	222					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	p.E222K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GAAAATTGCAGAAGGTACTGG	0.493000													10	56					0	0	0.411799	0	0
DFFA	1676	broad.mit.edu	37	1	10523212	10523212	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:10523212C>G	ENST00000377038.3	-	5	753	c.686G>C	c.(685-687)aGa>aCa	p.R229T	DFFA_ENST00000377036.2_Missense_Mutation_p.R229T	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	229					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GGAGGTCTCTCTGCTGATACC	0.557000													9	66					0	0	0.361761	0	0
UMPS	7372	broad.mit.edu	37	3	124456779	124456779	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124456779C>G	ENST00000232607.2	+	3	781	c.675C>G	c.(673-675)ctC>ctG	p.L225L	UMPS_ENST00000413078.2_Silent_p.L47L|UMPS_ENST00000538242.1_Silent_p.L47L|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000536109.1_Silent_p.L133L	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	225	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		CCAAAGAACTCAGCTTCGGTG	0.483000													4	32					0	0	0.184627	0	0
CHD2	1106	broad.mit.edu	37	15	93486105	93486105	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:93486105G>C	ENST00000394196.4	+	9	1927	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	CHD2_ENST00000420239.2_Missense_Mutation_p.E287Q|CHD2_ENST00000536619.1_Missense_Mutation_p.E300Q|CHD2_ENST00000557381.1_Missense_Mutation_p.E287Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	287	Chromo 1.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATATGCGATTGAAGCTAATGG	0.418000													8	58					0	0	0.387290	0	0
RNF112	7732	broad.mit.edu	37	17	19316427	19316427	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:19316427C>T	ENST00000461366.1	+	4	773	c.558C>T	c.(556-558)ctC>ctT	p.L186L	RNF112_ENST00000580109.1_Intron|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	186							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCTTCCTCCTCAACCATTTGC	0.682000													5	84					0	0	0.307466	0	0
FAT2	2196	broad.mit.edu	37	5	150947809	150947809	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:150947809C>T	ENST00000261800.5	-	1	696	c.684G>A	c.(682-684)cgG>cgA	p.R228R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	228	Cadherin 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAGATTTTCCGCATGCGGT	0.597000													8	34					0	0	0.307466	0	0
CDH11	1009	broad.mit.edu	37	16	65016069	65016069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:65016069C>T	ENST00000394156.3	-	8	1588	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	CDH11_ENST00000268603.4_Missense_Mutation_p.E379K|CDH11_ENST00000566827.1_Missense_Mutation_p.E253K			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	379	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATAGGGGGCTCATCAGCATCT	0.527000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			5	77					0	0	0.248553	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858710	149858710	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:149858710G>T	ENST00000331380.2	+	1	186	c.186G>T	c.(184-186)gaG>gaT	p.E62D		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	62					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGACCGCCGAGATCCTGGAGC	0.672000													13	107					1.15088e-07	1.20411e-07	0.500413	1	0
LRP1	4035	broad.mit.edu	37	12	57586683	57586683	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:57586683C>T	ENST00000243077.3	+	45	7951	c.7485C>T	c.(7483-7485)ctC>ctT	p.L2495L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2495	EGF-like 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGTCTGCTCACTCACCAGG	0.647000													40	323					0	0	0.840704	0	0
SBF1	6305	broad.mit.edu	37	22	50893737	50893737	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:50893737G>C	ENST00000380817.3	-	33	4653	c.4470C>G	c.(4468-4470)ttC>ttG	p.F1490L	SBF1_ENST00000390679.3_Missense_Mutation_p.F1464L|SBF1_ENST00000348911.6_Missense_Mutation_p.F1465L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACGGTGGCTGAAGCGATGGC	0.642000													13	68					0	0	0.479597	0	0
GRINA	2907	broad.mit.edu	37	8	145065951	145065951	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145065951C>G	ENST00000313269.5	+	3	749	c.471C>G	c.(469-471)atC>atG	p.I157M	GRINA_ENST00000395068.4_Missense_Mutation_p.I157M	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	157						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAAGAGCATCCGACAGGCCT	0.612000													15	138					0	0	0.575678	0	0
RCSD1	92241	broad.mit.edu	37	1	167653186	167653186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167653186C>A	ENST00000367854.3	+	2	387	c.56C>A	c.(55-57)tCg>tAg	p.S19*	RCSD1_ENST00000537350.1_Nonsense_Mutation_p.S19*	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	19										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCGTCCCCCTCGGTGGCCCAG	0.602000													47	376					1.19403e-26	1.29149e-26	0.870114	1	0
NME1	4830	broad.mit.edu	37	17	49233090	49233090	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:49233090C>T	ENST00000511355.1	+	2	161	c.75C>T	c.(73-75)atC>atT	p.I25I	NME1_ENST00000393196.3_Silent_p.I25I|NME1_ENST00000336097.3_Silent_p.I50I|NME1-NME2_ENST00000608447.1_Silent_p.I50I|NME2_ENST00000393193.2_Silent_p.I25I|NME1_ENST00000480143.1_Silent_p.I50I|NME2_ENST00000376392.6_Silent_p.I25I|NME1_ENST00000013034.3_Silent_p.I50I|NME2_ENST00000555572.1_Silent_p.I50I|NME1-NME2_ENST00000393198.3_Silent_p.I25I					NME/NM23 nucleoside diphosphate kinase 1											endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGAGATTATCAAGCGTTTTG	0.473000													9	112					0	0	0.361761	0	0
HIPK1	204851	broad.mit.edu	37	1	114515811	114515811	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:114515811C>T	ENST00000369558.1	+	16	3542	c.3310C>T	c.(3310-3312)Cac>Tac	p.H1104Y	HIPK1_ENST00000340480.4_Missense_Mutation_p.H730Y|HIPK1_ENST00000406344.1_Missense_Mutation_p.H710Y|HIPK1_ENST00000369561.4_Missense_Mutation_p.H1070Y|HIPK1_ENST00000426820.2_Missense_Mutation_p.H1104Y|HIPK1_ENST00000369554.2_Missense_Mutation_p.H1059Y|HIPK1_ENST00000369553.1_Missense_Mutation_p.H710Y|HIPK1_ENST00000369555.2_Missense_Mutation_p.H1059Y			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCCCCTGCTCACCTGCCAAG	0.627000													43	367					0	0	0.870114	0	0
GTF3C2	2976	broad.mit.edu	37	2	27550106	27550106	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27550106G>T	ENST00000359541.2	-	18	2884	c.2455C>A	c.(2455-2457)Cag>Aag	p.Q819K	GTF3C2_ENST00000264720.3_Missense_Mutation_p.Q819K			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	819						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCCTCCTGCATGCGCAGC	0.512000													6	90					0.00621372	0.0063295	0.335167	1	0
STARD13	90627	broad.mit.edu	37	13	33700224	33700224	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:33700224G>C	ENST00000336934.5	-	7	2192	c.2076C>G	c.(2074-2076)ctC>ctG	p.L692L	STARD13_ENST00000255486.4_Silent_p.L684L|STARD13_ENST00000399365.3_Silent_p.L574L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	692	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.L692L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTACCTGATCGAGGCAGTTGC	0.552000													15	107					0	0	0.539581	0	0
RGPD1	400966	broad.mit.edu	37	2	87141008	87141008	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:87141008C>T	ENST00000398193.3	+	1	74	c.36C>T	c.(34-36)ctC>ctT	p.L12L	RGPD1_ENST00000409776.2_Intron			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1	0					intracellular transport		binding			breast(1)|endometrium(1)|lung(1)	3						AGCGGTACCTCGCCTCGGTGC	0.701000													6	21					0	0	0.307466	0	0
LEO1	123169	broad.mit.edu	37	15	52258074	52258074	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:52258074G>A	ENST00000299601.5	-	2	746	c.686C>T	c.(685-687)tCt>tTt	p.S229F	LEO1_ENST00000315141.5_Missense_Mutation_p.S229F	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	229	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TTCATCATCAGAATTCTGTTT	0.423000													56	131					0	0	0.870114	0	0
VPS13D	55187	broad.mit.edu	37	1	12322040	12322040	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12322040G>A	ENST00000358136.3	+	13	1627	c.1497G>A	c.(1495-1497)ctG>ctA	p.L499L	VPS13D_ENST00000356315.4_Silent_p.L499L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	499					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGCCAAACTGAATTTGCAGT	0.448000													14	87					0	0	0.539581	0	0
KIAA1211	57482	broad.mit.edu	37	4	57179512	57179512	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:57179512G>A	ENST00000504228.1	+	5	609	c.504G>A	c.(502-504)caG>caA	p.Q168Q	KIAA1211_ENST00000264229.6_Silent_p.Q168Q|KIAA1211_ENST00000541073.1_Silent_p.Q161Q			Q6ZU35	K1211_HUMAN	KIAA1211	168										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAAAAAAACAGAGGGTGTCAA	0.567000													12	102					0	0	0.435327	0	0
TNRC6C	57690	broad.mit.edu	37	17	76047219	76047219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76047219G>A	ENST00000335749.4	+	3	2645	c.2076G>A	c.(2074-2076)tgG>tgA	p.W692*	TNRC6C_ENST00000588061.1_Nonsense_Mutation_p.W692*|TNRC6C_ENST00000588847.1_Nonsense_Mutation_p.W692*|TNRC6C_ENST00000544502.1_Nonsense_Mutation_p.W692*|TNRC6C_ENST00000301624.4_Nonsense_Mutation_p.W692*|TNRC6C_ENST00000541771.1_Nonsense_Mutation_p.W692*	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	692	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAACAGGGTGGATCGGGGGGC	0.542000													7	19					0	0	0.278610	0	0
EPPK1	83481	broad.mit.edu	37	8	144947098	144947098	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144947098C>T	ENST00000525985.1	-	2	395	c.324G>A	c.(322-324)ctG>ctA	p.L108L				P58107	EPIPL_HUMAN	epiplakin 1	108						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTTCTCCTTCAGCTCCAGCC	0.677000													5	78					0	0	0.217242	0	0
TPH1	7166	broad.mit.edu	37	11	18057567	18057567	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:18057567C>T	ENST00000250018.2	-	2	802	c.240G>A	c.(238-240)ctG>ctA	p.L80L	TPH1_ENST00000341556.2_Silent_p.L80L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	80	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TATGAGACTTCAGCAGATGAA	0.318000													7	32					0	0	0.278610	0	0
EFR3A	23167	broad.mit.edu	37	8	132982779	132982779	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:132982779G>C	ENST00000254624.5	+	10	1273	c.1048G>C	c.(1048-1050)Gaa>Caa	p.E350Q	EFR3A_ENST00000519656.1_Missense_Mutation_p.E314Q|EFR3A_ENST00000334503.4_Missense_Mutation_p.E350Q	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	350						plasma membrane	binding	p.S348fs*15(1)		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)			TCTCAGCGTTGAATTCGAAGC	0.393000													3	30					0	0	0.115264	0	0
MPZ	4359	broad.mit.edu	37	1	161276525	161276525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:161276525G>A	ENST00000533357.1	-	3	487	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	MPZ_ENST00000526189.1_Intron|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000360451.6_Nonsense_Mutation_p.Q151*|MPZ_ENST00000336559.4_Nonsense_Mutation_p.Q141*	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	141	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCGTGACCTGAGAGGTCTTG	0.507000													12	100					0	0	0.479597	0	0
HYDIN	54768	broad.mit.edu	37	16	71220736	71220736	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:71220736G>C	ENST00000393567.2	-	2	213	c.63C>G	c.(61-63)ttC>ttG	p.F21L	HYDIN_ENST00000538248.1_Missense_Mutation_p.F48L|HYDIN_ENST00000448089.2_Missense_Mutation_p.F21L|HYDIN_ENST00000541601.1_Missense_Mutation_p.F38L|HYDIN_ENST00000448691.1_Missense_Mutation_p.F21L|HYDIN_ENST00000321489.5_Missense_Mutation_p.F21L|HYDIN_ENST00000288168.10_Missense_Mutation_p.F38L|HYDIN_ENST00000393550.2_Missense_Mutation_p.F21L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	21										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAATCCTTTGAACATATTGA	0.383000													4	33					0	0	0.184627	0	0
TTC3	7267	broad.mit.edu	37	21	38461129	38461129	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:38461129G>A	ENST00000399017.2	+	5	3116	c.369G>A	c.(367-369)aaG>aaA	p.K123K	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Silent_p.K123K|TTC3_ENST00000399010.1_Silent_p.K123K|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Silent_p.K123K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	123					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAAATTTGAAGAAACTACAAC	0.323000													7	36					0	0	0.307466	0	0
FGF1	2246	broad.mit.edu	37	5	141974881	141974881	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:141974881G>A	ENST00000359370.6	-	4	521	c.442C>T	c.(442-444)Ctc>Ttc	p.L148F	AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000337706.2_Missense_Mutation_p.L148F|FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000419524.2_Missense_Mutation_p.L148F|FGF1_ENST00000378046.1_Missense_Mutation_p.L148F|AC005592.2_ENST00000443800.1_RNA	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	148					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	GGCAGGGGGAGAAACAAGATT	0.493000													7	37					0	0	0.361761	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327201	150327201	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:150327201G>C	ENST00000328902.5	-	2	246	c.30C>G	c.(28-30)ccC>ccG	p.P10P	GIMAP6_ENST00000493969.1_Silent_p.P10P	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	10							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATTCTCCTGGGGAATTTGTT	0.423000													20	136					0	0	0.608945	0	0
HIP1	3092	broad.mit.edu	37	7	75172284	75172284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:75172284C>T	ENST00000336926.6	-	28	2802	c.2776G>A	c.(2776-2778)Gat>Aat	p.D926N	HIP1_ENST00000434438.2_Missense_Mutation_p.D875N	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	926	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGTCCTTATCAGCTTTCACC	0.507000			T	PDGFRB	CMML								12	78					0	0	0.500413	0	0
ACTG1	71	broad.mit.edu	37	17	79479015	79479015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:79479015C>A	ENST00000575842.1	-	2	703	c.277G>T	c.(277-279)Gag>Tag	p.E93*	ACTG1_ENST00000575087.1_Nonsense_Mutation_p.E93*|ACTG1_ENST00000331925.2_Nonsense_Mutation_p.E93*|ACTG1_ENST00000573283.1_Nonsense_Mutation_p.E93*			P63261	ACTG_HUMAN	actin, gamma 1	93					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			ACGCGCAGCTCGTTGTAGAAG	0.617000													25	113					1.30897e-18	1.41115e-18	0.740014	1	0
DLGAP5	9787	broad.mit.edu	37	14	55618639	55618639	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:55618639C>G	ENST00000247191.2	-	17	2358	c.2142G>C	c.(2140-2142)ttG>ttC	p.L714F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.L714F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	714					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AATCCACCTTCAAGTCTGTCT	0.303000													5	39					0	0	0.278610	0	0
RTN3	10313	broad.mit.edu	37	11	63486675	63486675	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:63486675C>T	ENST00000377819.5	+	3	855	c.701C>T	c.(700-702)tCa>tTa	p.S234L	RTN3_ENST00000339997.4_Missense_Mutation_p.S215L|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S122L|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	234					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCCAAAGTTTCAGGAGATGAT	0.373000													13	44					0	0	0.557998	0	0
APC2	10297	broad.mit.edu	37	19	1461973	1461973	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1461973G>A	ENST00000535453.1	+	13	3363	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.L276L|APC2_ENST00000233607.2_Silent_p.L550L|CTB-25B13.12_ENST00000588225.1_RNA			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	550					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCACCCTGAAGAGCGTGC	0.632000													7	60					0	0	0.361761	0	0
DLG3	1741	broad.mit.edu	37	X	69672536	69672536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:69672536C>A	ENST00000374355.3	+	1	382	c.65C>A	c.(64-66)tCg>tAg	p.S22*	DLG3_ENST00000374360.3_Intron|DLG3_ENST00000194900.4_Intron	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	0					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GCCTCCGCTTCGGCCTGGAGG	0.692000													5	16					1.23904e-05	1.28204e-05	0.184627	1	0
MEF2D	4209	broad.mit.edu	37	1	156438787	156438787	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156438787G>A	ENST00000348159.4	-	10	1512	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	MEF2D_ENST00000340875.5_Silent_p.L343L|MEF2D_ENST00000360595.3_Silent_p.L337L|MEF2D_ENST00000464356.2_Silent_p.L336L|MEF2D_ENST00000368240.2_Silent_p.L337L|MEF2D_ENST00000353795.3_Silent_p.L298L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	344					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTAAGGAGGAGAGCTCTGCAC	0.592000													13	91					0	0	0.557998	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232615474	232615474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:232615474C>T	ENST00000366630.1	-	6	2342	c.1984G>A	c.(1984-1986)Gat>Aat	p.D662N	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D662N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	662	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCGTGGAATCAGCTGAAAAC	0.398000													11	39					0	0	0.411799	0	0
SLC6A6	6533	broad.mit.edu	37	3	14509714	14509714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:14509714G>A	ENST00000454876.2	+	9	1419	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	SLC6A6_ENST00000360861.3_Missense_Mutation_p.E364K			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	364					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGATGTGGCTGAGTCAGGTAC	0.547000											OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	25					0	0	0.184627	0	0
WISP1	8840	broad.mit.edu	37	8	134225348	134225348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:134225348G>A	ENST00000250160.6	+	2	417	c.311G>A	c.(310-312)aGc>aAc	p.S104N	WISP1_ENST00000220856.6_Missense_Mutation_p.S104N|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Missense_Mutation_p.S104N|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	104	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGTGACTACAGCGGGGACCGC	0.612000													32	252					0	0	0.870114	0	0
C5orf66	100996485	broad.mit.edu	37	5	134678907	134678907	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:134678907G>C	ENST00000432382.3	+	6	1011	c.189G>C	c.(187-189)gaG>gaC	p.E63D	H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000512507.1_Intron|H2AFY_ENST00000312469.4_Intron|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000511689.1_Intron|H2AFY_ENST00000510038.1_Intron	NM_001277348.1	NP_001264277.1																					TGTGCGCAGAGAGACACACCC	0.537000													14	98					0	0	0.520397	0	0
TTC30A	92104	broad.mit.edu	37	2	178482343	178482343	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:178482343C>G	ENST00000355689.5	-	1	1351	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H	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)			ATCAGGGCATCTAAGAAGTCA	0.473000													16	99					0	0	0.539581	0	0
PARP4	143	broad.mit.edu	37	13	25067846	25067846	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:25067846G>C	ENST00000381989.3	-	8	872	c.767C>G	c.(766-768)tCa>tGa	p.S256*		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	256	PARP alpha-helical.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CAGAGTGCTTGAATTCATGAC	0.438000													13	37					0	0	0.500413	0	0
MUC5AC	4586	broad.mit.edu	37	11	1159327	1159327	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:1159327C>T	ENST00000356191.2	+	16	1295	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGTACCTGCTCTGTGCTTGGA	0.637000													19	105					0	0	0.592651	0	0
ALAS2	212	broad.mit.edu	37	X	55051212	55051212	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:55051212C>T	ENST00000330807.5	-	3	380	c.243G>A	c.(241-243)aaG>aaA	p.K81K	ALAS2_ENST00000335854.4_Silent_p.K81K|ALAS2_ENST00000396198.3_Silent_p.K105K	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	81					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CAATCTTGCTCTTCCCATCCT	0.488000													14	42					0	0	0.500413	0	0
DYRK3	8444	broad.mit.edu	37	1	206821678	206821678	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:206821678G>C	ENST00000367106.1	+	4	1548	c.1075G>C	c.(1075-1077)Gaa>Caa	p.E359Q	DYRK3_ENST00000367109.2_Missense_Mutation_p.E379Q|DYRK3_ENST00000367108.3_Missense_Mutation_p.E359Q|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	379	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGAGCTCCAGAAATCATCTT	0.488000													12	65					0	0	0.457914	0	0
BAGE2	85319	broad.mit.edu	37	21	11058349	11058349	+	RNA	SNP	T	T	G	rs209032		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:11058349T>G	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAGAGAAATCTCTTTATAAAA	0.338000													5	85					0	0	0.217242	0	0
XDH	7498	broad.mit.edu	37	2	31562480	31562480	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:31562480C>T	ENST00000379416.3	-	34	3697	c.3649G>A	c.(3649-3651)Gag>Aag	p.E1217K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1217					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGCTCCCCTCGGGGGAATAG	0.612000													6	58					0	0	0.248553	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27666827	27666827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27666827G>A	ENST00000543753.1	+	6	674	c.627G>A	c.(625-627)atG>atA	p.M209I	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.M191I|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.M209I	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	209						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					TAGAGGAAATGACAGAGCTTG	0.423000													5	45					0	0	0.248553	0	0
PDE8A	5151	broad.mit.edu	37	15	85619974	85619974	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:85619974G>C	ENST00000310298.4	+	6	754	c.502G>C	c.(502-504)Gaa>Caa	p.E168Q	PDE8A_ENST00000339708.5_Missense_Mutation_p.E168Q|PDE8A_ENST00000394553.1_Missense_Mutation_p.E168Q|PDE8A_ENST00000557957.1_Missense_Mutation_p.E96Q|PDE8A_ENST00000557819.2_3'UTR			O60658	PDE8A_HUMAN	phosphodiesterase 8A	168					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGTGGATAGAGAAGAGTTGTC	0.289000													9	103					0	0	0.387290	0	0
TG	7038	broad.mit.edu	37	8	133919084	133919084	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:133919084G>T	ENST00000220616.4	+	17	3826	c.3786G>T	c.(3784-3786)ttG>ttT	p.L1262F	TG_ENST00000377869.1_Missense_Mutation_p.L1262F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1262					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGGGCCATTGATATGTAGCC	0.632000													5	56					0.217242	0.218407	0.217242	1	0
FDXR	2232	broad.mit.edu	37	17	72859310	72859310	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:72859310C>T	ENST00000442102.2	-	11	1448	c.1362G>A	c.(1360-1362)atG>atA	p.M454I	FDXR_ENST00000582944.1_Missense_Mutation_p.M403I|FDXR_ENST00000293195.5_Missense_Mutation_p.M411I|FDXR_ENST00000583917.1_Missense_Mutation_p.M383I|FDXR_ENST00000420580.2_Missense_Mutation_p.M371I|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000544854.1_Missense_Mutation_p.M359I|FDXR_ENST00000413947.2_Missense_Mutation_p.M442I|FDXR_ENST00000581530.1_Missense_Mutation_p.M417I	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	411					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCTGTCAGTCATGGTTGTGG	0.632000													5	54					0	0	0.248553	0	0
LRG1	116844	broad.mit.edu	37	19	4538477	4538477	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:4538477C>T	ENST00000306390.6	-	2	979	c.519G>A	c.(517-519)ggG>ggA	p.G173G	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	173						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCGGTTCCCAGACAGGT	0.622000													34	218					0	0	0.853193	0	0
COQ10A	93058	broad.mit.edu	37	12	56663988	56663988	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56663988G>C	ENST00000308197.5	+	5	892	c.631G>C	c.(631-633)Gat>Cat	p.D211H	COQ10A_ENST00000433805.2_Missense_Mutation_p.D179H|COQ10A_ENST00000546544.1_Missense_Mutation_p.D194H	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	211						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						CATGTTTTTTGATGAGGTTGT	0.493000													27	204					0	0	0.779181	0	0
GALNTL6	442117	broad.mit.edu	37	4	173269825	173269825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:173269825G>A	ENST00000506823.1	+	5	1195	c.538G>A	c.(538-540)Gac>Aac	p.D180N	GALNTL6_ENST00000508122.1_Missense_Mutation_p.D163N|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	180	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCTAGTAGATGACTTCAGTGA	0.383000													5	46					0	0	0.248553	0	0
PYDC2	152138	broad.mit.edu	37	3	191178959	191178959	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:191178959C>T	ENST00000518817.1	+	1	8	c.8C>T	c.(7-9)tCt>tTt	p.S3F		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	3	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AAGATGGCATCTTCTGCAGAG	0.453000													8	63					0	0	0.435327	0	0
PDHA1	5160	broad.mit.edu	37	X	19369482	19369482	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:19369482C>T	ENST00000379806.5	+	5	634	c.489C>T	c.(487-489)ttC>ttT	p.F163F	PDHA1_ENST00000379805.3_Silent_p.F125F|PDHA1_ENST00000540249.1_Silent_p.F125F|PDHA1_ENST00000545074.1_Silent_p.F132F|PDHA1_ENST00000422285.2_Silent_p.F125F	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	125					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GCTTTACTTTCACCCGGGGCC	0.502000													26	67					0	0	0.804634	0	0
SNHG12	85028	broad.mit.edu	37	1	28907505	28907505	+	RNA	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:28907505C>G	ENST00000488745.1	-	0	1013				SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA																							AACTGTCACTCTGGGCTCCTT	0.517000													14	118					0	0	0.435327	0	0
ADGRG1	9289	broad.mit.edu	37	16	57695626	57695626	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:57695626C>G	ENST00000562631.1	+	13	2214	c.1682C>G	c.(1681-1683)tCc>tGc	p.S561C	GPR56_ENST00000388812.4_Missense_Mutation_p.S567C|GPR56_ENST00000568908.1_Missense_Mutation_p.S561C|GPR56_ENST00000379696.3_Missense_Mutation_p.S567C|GPR56_ENST00000538815.1_Missense_Mutation_p.S561C|GPR56_ENST00000567835.1_Missense_Mutation_p.S567C|GPR56_ENST00000562558.1_Missense_Mutation_p.S561C|GPR56_ENST00000568909.1_Missense_Mutation_p.S567C|GPR56_ENST00000456916.1_Missense_Mutation_p.S567C|GPR56_ENST00000379694.4_Missense_Mutation_p.S397C|GPR56_ENST00000388813.5_Missense_Mutation_p.S561C|GPR56_ENST00000540164.2_Missense_Mutation_p.S561C|GPR56_ENST00000544297.1_Missense_Mutation_p.S386C			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	567					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						ATCCGGGACTCCCTGGTCAGC	0.602000													6	32					0	0	0.217242	0	0
IFT140	9742	broad.mit.edu	37	16	1575300	1575300	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:1575300G>A	ENST00000426508.2	-	22	3159	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	IFT140_ENST00000361339.5_Silent_p.F126F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	932										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGGGCACCTCGAAGCGGTGCG	0.627000													18	135					0	0	0.654019	0	0
DBI	1622	broad.mit.edu	37	2	120125785	120125785	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:120125785G>A	ENST00000542275.1	+	2	298	c.214G>A	c.(214-216)Gag>Aag	p.E72K	DBI_ENST00000311521.4_Missense_Mutation_p.E28K|DBI_ENST00000409094.1_Missense_Mutation_p.E28K|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000535757.1_Missense_Mutation_p.E28K|DBI_ENST00000535617.1_Missense_Mutation_p.E53K|DBI_ENST00000393103.2_Missense_Mutation_p.E12K|DBI_ENST00000355857.3_Missense_Mutation_p.E11K	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	11	ACB.				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						GAAAGCTGCAGAGGAGGTTAG	0.502000													13	93					0	0	0.479597	0	0
MAST1	22983	broad.mit.edu	37	19	12969528	12969528	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:12969528C>T	ENST00000251472.4	+	12	1380	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	MAST1_ENST00000591495.1_Silent_p.L443L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	447	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCGCCACCTCTGCATGGTCA	0.622000													12	69					0	0	0.520397	0	0
PCYOX1	51449	broad.mit.edu	37	2	70485407	70485407	+	Splice_Site	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:70485407C>T	ENST00000433351.2	+	1	139	c.111C>T	c.(109-111)atC>atT	p.I37I	PCYOX1_ENST00000264441.5_Splice_Site_p.I37I|PCYOX1_ENST00000505044.2_Intron	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	37					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGATAAAATCGGTAGGCGAG	0.726000													4	17					0	0	0.217242	0	0
LIPG	9388	broad.mit.edu	37	18	47101785	47101785	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:47101785G>C	ENST00000261292.4	+	5	896	c.618G>C	c.(616-618)aaG>aaC	p.K206N	LIPG_ENST00000580036.1_Missense_Mutation_p.K206N|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Missense_Mutation_p.K242N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	206					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACATCCACAAGAGGCTCTCTC	0.567000													10	50					0	0	0.387290	0	0
SLC6A9	6536	broad.mit.edu	37	1	44474107	44474107	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:44474107G>A	ENST00000372310.3	-	5	673	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SLC6A9_ENST00000360584.2_Missense_Mutation_p.R243W|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R105W|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R189W|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R105W|SLC6A9_ENST00000372306.3_Missense_Mutation_p.R170W|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R59W	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	243						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.R170W(1)|p.R243W(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCGGCTGGCCGAGAGCCATTG	0.642000													20	147					0	0	0.681144	0	0
SLC12A4	6560	broad.mit.edu	37	16	67985768	67985768	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:67985768C>T	ENST00000422611.2	-	7	1135	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	SLC12A4_ENST00000572037.1_Missense_Mutation_p.E316K|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E333K|SLC12A4_ENST00000338335.3_Missense_Mutation_p.E364K|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E364K|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E358K|SLC12A4_ENST00000316341.3_Missense_Mutation_p.E364K	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	364					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGGGATCTCGGTCACATTG	0.607000													6	32					0	0	0.217242	0	0
SLC12A5	57468	broad.mit.edu	37	20	44682304	44682304	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:44682304C>G	ENST00000243964.3	+	20	2733	c.2635C>G	c.(2635-2637)Ctg>Gtg	p.L879V	SLC12A5_ENST00000454036.2_Missense_Mutation_p.L902V	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	902					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACCACATTTCTGTATCATTT	0.552000													24	267					0	0	0.729181	0	0
WBP2	23558	broad.mit.edu	37	17	73847712	73847712	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:73847712C>A	ENST00000591399.1	-	3	529	c.105G>T	c.(103-105)atG>atT	p.M35I	WBP2_ENST00000254806.3_Missense_Mutation_p.M35I|WBP2_ENST00000433525.2_Missense_Mutation_p.M35I|WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000590221.1_Missense_Mutation_p.M35I|WBP2_ENST00000585462.1_Missense_Mutation_p.M13I|WBP2_ENST00000344296.4_Missense_Mutation_p.M13I			Q969T9	WBP2_HUMAN	WW domain binding protein 2	35	GRAM.						protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCACGTTCTTCATGTCATTGA	0.493000													13	173					0.0383953	0.0388394	0.539581	1	0
IP6K2	51447	broad.mit.edu	37	3	48726994	48726994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:48726994C>T	ENST00000328631.5	-	5	980	c.757G>A	c.(757-759)Ggt>Agt	p.G253S		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	253					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACACGCACACCAATGACTGCA	0.547000													25	125					0	0	0.779181	0	0
CSPG5	10675	broad.mit.edu	37	3	47619161	47619161	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:47619161C>T	ENST00000383738.2	-	2	2453	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CSPG5_ENST00000456150.1_5'UTR|CSPG5_ENST00000264723.4_Missense_Mutation_p.D119N	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	119					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGGGCATCGCCGCTGCCC	0.692000													50	88					0	0	0.870114	0	0
HERC2P2	400322	broad.mit.edu	37	15	23299970	23299970	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:23299970G>A	ENST00000560464.1	-	0	4317																											GGGCAAACTCGATGTTCCTTC	0.587000													6	36					0	0	0.278610	0	0
HERC6	55008	broad.mit.edu	37	4	89334244	89334244	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:89334244G>A	ENST00000380265.5	+	12	1567	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	HERC6_ENST00000264346.7_Missense_Mutation_p.E462K	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	462					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TACGTGTCTCGAGGATGATCT	0.433000													26	150					0	0	0.819951	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439547	150439547	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:150439547C>G	ENST00000358647.3	+	3	687	c.320C>G	c.(319-321)tCt>tGt	p.S107C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5									p.S107C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACCTGCTCTCTGCCCCGGGG	0.582000													12	117					0	0	0.520397	0	0
CHD2	1106	broad.mit.edu	37	15	93527686	93527686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:93527686G>C	ENST00000394196.4	+	25	4261	c.3193G>C	c.(3193-3195)Gaa>Caa	p.E1065Q	CHD2_ENST00000557381.1_Missense_Mutation_p.E1065Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1065	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAGGAGCTAGAAGAAATTTA	0.408000													6	24					0	0	0.248553	0	0
NES	10763	broad.mit.edu	37	1	156642912	156642912	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156642912G>T	ENST00000368223.3	-	4	1200	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	356	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGTGAGGGGAGGGAAGTTG	0.602000													11	67					6.40141e-05	6.59235e-05	0.387290	1	0
CCDC50	152137	broad.mit.edu	37	3	191100573	191100573	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:191100573G>A	ENST00000392455.3	+	9	1351	c.753G>A	c.(751-753)gaG>gaA	p.E251E	CCDC50_ENST00000392456.3_Silent_p.E427E	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	251						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGTCAAAAGAGAGTGATGAAC	0.373000													3	30					0	0	0.217242	0	0
STXBP6	29091	broad.mit.edu	37	14	25288302	25288302	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:25288302C>G	ENST00000323944.5	-	5	1001	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	STXBP6_ENST00000548369.1_Missense_Mutation_p.E82Q|STXBP6_ENST00000358326.2_Missense_Mutation_p.E184Q|STXBP6_ENST00000548724.1_Missense_Mutation_p.E184Q|STXBP6_ENST00000396700.1_Missense_Mutation_p.E184Q|STXBP6_ENST00000546511.1_Missense_Mutation_p.E184Q|STXBP6_ENST00000419632.2_Missense_Mutation_p.E184Q|STXBP6_ENST00000550887.1_Missense_Mutation_p.E184Q			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	184	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GTCTTCTCCTCTGCTCGGCCT	0.572000													17	126					0	0	0.608945	0	0
LGI4	163175	broad.mit.edu	37	19	35625566	35625566	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:35625566G>T	ENST00000392225.3	-	1	538	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	LGI4_ENST00000310123.3_Missense_Mutation_p.L7M|LGI4_ENST00000591633.1_Missense_Mutation_p.L7M|LGI4_ENST00000493050.1_Intron			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	7						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCAGCAGCAGAATGCCTGCC	0.687000													6	37					0.00198382	0.0020255	0.248553	1	0
TNFRSF8	943	broad.mit.edu	37	1	12175755	12175755	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:12175755C>G	ENST00000263932.2	+	8	1137	c.915C>G	c.(913-915)atC>atG	p.I305M	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.I194M	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	305					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CCTACCCAATCTGTGCAGCAG	0.627000													9	65					0	0	0.307466	0	0
PIGT	51604	broad.mit.edu	37	20	44053141	44053141	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:44053141C>G	ENST00000279036.6	+	11	1486	c.1406C>G	c.(1405-1407)tCt>tGt	p.S469C	PIGT_ENST00000341555.5_Missense_Mutation_p.S275C|PIGT_ENST00000372689.5_Missense_Mutation_p.S402C|PIGT_ENST00000545755.1_Missense_Mutation_p.S207C|PIGT_ENST00000279035.9_Missense_Mutation_p.S367C|PIGT_ENST00000543458.2_Missense_Mutation_p.S413C|PIGT_ENST00000535404.1_Missense_Mutation_p.S314C	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	469					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TGTAGCCCATCTGTCCTCAGC	0.582000													23	136					0	0	0.706142	0	0
WLS	79971	broad.mit.edu	37	1	68564388	68564388	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:68564388G>A	ENST00000540432.1	-	12	1848	c.1565C>T	c.(1564-1566)tCg>tTg	p.S522L	GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.S520L|GNG12-AS1_ENST00000420587.1_RNA			Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	0					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						ataaagttccgaaacaaacaa	0.348000													3	44					0	0	0.184627	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585257	70585257	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:70585257G>A	ENST00000260126.4	-	10	3100	c.2394C>T	c.(2392-2394)ttC>ttT	p.F798F	SLCO5A1_ENST00000530307.1_Silent_p.F743F|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCTGGGTGCTGAAAGCTGGGC	0.577000													11	135					0	0	0.411799	0	0
WDR96	80217	broad.mit.edu	37	10	105942240	105942240	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:105942240G>C	ENST00000357060.3	-	17	2288	c.2173C>G	c.(2173-2175)Ctg>Gtg	p.L725V	WDR96_ENST00000278064.2_Missense_Mutation_p.L656V|WDR96_ENST00000428666.1_Missense_Mutation_p.L726V	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	725										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAATAGTCCAGAATTTCACTG	0.348000													7	38					0	0	0.278610	0	0
CTNS	1497	broad.mit.edu	37	17	3563994	3563994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:3563994C>T	ENST00000381870.3	+	13	1628	c.1169C>T	c.(1168-1170)aCt>aTt	p.T390I	CTNS_ENST00000046640.3_3'UTR|CTNS_ENST00000441220.2_Missense_Mutation_p.T282I	NM_001031681.2	NP_001026851.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	0					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TTGCCCCAAACTACCAGCGTT	0.602000													10	80					0	0	0.411799	0	0
TCP11L1	55346	broad.mit.edu	37	11	33106613	33106613	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:33106613C>T	ENST00000324357.9	+	7	1084	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	CSTF3_ENST00000323959.4_3'UTR			Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	472										kidney(1)|liver(2)|lung(2)|skin(1)	6						CAGGAGTTTTCTGCAGAGGCG	0.448000													4	26					0	0	0.184627	0	0
C5orf42	65250	broad.mit.edu	37	5	37174003	37174003	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:37174003G>A	ENST00000274258.7	-	32	6252	c.2665C>T	c.(2665-2667)Ctg>Ttg	p.L889L	C5orf42_ENST00000425232.2_Silent_p.L2009L|C5orf42_ENST00000508244.1_Silent_p.L2009L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2009										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTTGATATCAGAAGTGGAACT	0.373000													3	55					0	0	0.184627	0	0
SPTBN1	6711	broad.mit.edu	37	2	54843421	54843421	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:54843421G>A	ENST00000333896.5	+	4	898	c.513G>A	c.(511-513)caG>caA	p.Q171Q	SPTBN1_ENST00000356805.4_Silent_p.Q184Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	184	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGTGGTGCCAGATGAAGACAG	0.433000													15	75					0	0	0.539581	0	0
GATA1	2623	broad.mit.edu	37	X	48650590	48650590	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:48650590C>T	ENST00000376670.3	+	3	671	c.560C>T	c.(559-561)tCt>tTt	p.S187F	GATA1_ENST00000376665.3_Missense_Mutation_p.S187F	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	187					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GCCTATTCCTCTCCCAAGCTT	0.542000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								11	35					0	0	0.479597	0	0
USP29	57663	broad.mit.edu	37	19	57641088	57641088	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57641088G>A	ENST00000254181.4	+	4	1499	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	USP29_ENST00000598197.1_Missense_Mutation_p.E349K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	349					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATCAAGAGAGAATTACTTGG	0.378000													5	69					0	0	0.217242	0	0
MYO18A	399687	broad.mit.edu	37	17	27419972	27419972	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:27419972C>T	ENST00000527372.1	-	33	5154	c.4974G>A	c.(4972-4974)ctG>ctA	p.L1658L	MYO18A_ENST00000531253.1_Silent_p.L1658L|MYO18A_ENST00000533112.1_Silent_p.L1621L|MYO18A_ENST00000354329.4_Silent_p.L1658L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1658					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGGTGCGCTTCAGGTCCTTCC	0.617000													13	68					0	0	0.411799	0	0
IGF2R	3482	broad.mit.edu	37	6	160479137	160479137	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:160479137G>C	ENST00000356956.1	+	21	3027	c.2879G>C	c.(2878-2880)gGc>gCc	p.G960A		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	960					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AACGTCTCTGGCATTGGGAAG	0.418000													10	68					0	0	0.411799	0	0
GNAS	2778	broad.mit.edu	37	20	57429312	57429312	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:57429312C>T	ENST00000371100.4	+	1	1544	c.992C>T	c.(991-993)gCg>gTg	p.A331V	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A331V|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.A331V|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.R268C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCCAATCGCGCTTGACGGC	0.647000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	47					0	0	0.307466	0	0
MSTO1	55154	broad.mit.edu	37	1	155717705	155717705	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155717705G>A	ENST00000452804.2	+	7	973	c.912G>A	c.(910-912)agG>agA	p.R304R				Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	0					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GAACTTGGAGGAGTAAACATT	0.483000													9	54					0	0	0.387290	0	0
WDR52	55779	broad.mit.edu	37	3	113128161	113128161	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:113128161C>T	ENST00000393845.2	-	7	748	c.682G>A	c.(682-684)Gag>Aag	p.E228K	WDR52_ENST00000295868.2_Missense_Mutation_p.E228K|WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	228								p.E228Q(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TATCCCTTCTCAGTCCCATCT	0.398000													5	33					0	0	0.248553	0	0
CDH4	1002	broad.mit.edu	37	20	60448856	60448856	+	Missense_Mutation	SNP	G	G	A	rs147810745	by1000genomes	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:60448856G>A	ENST00000360469.5	+	7	1038	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R243Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	317	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding	p.R317Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGCGGTACCGGATCGTGACC	0.612000													31	295					0	0	0.788014	0	0
SAP18	10284	broad.mit.edu	37	13	21721357	21721357	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:21721357G>C	ENST00000382533.4	+	4	434	c.395G>C	c.(394-396)aGa>aCa	p.R132T	SAP18_ENST00000607003.1_Missense_Mutation_p.R113T	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	113					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		ATGTCTGGCAGAAAGGGGACT	0.443000													15	101					0	0	0.557998	0	0
ADCY10	55811	broad.mit.edu	37	1	167778974	167778974	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:167778974G>C	ENST00000367848.1	-	33	4995	c.4498C>G	c.(4498-4500)Cag>Gag	p.Q1500E	ADCY10_ENST00000545172.1_Missense_Mutation_p.Q1439E|ADCY10_ENST00000367851.4_Missense_Mutation_p.Q1592E			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1592					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAAGATCCTGAATGTTTACC	0.373000													3	87					0	0	0.150653	0	0
SLC16A1	6566	broad.mit.edu	37	1	113464733	113464733	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:113464733C>T	ENST00000538576.1	-	3	1071	c.240G>A	c.(238-240)gtG>gtA	p.V80V	SLC16A1_ENST00000369626.3_Silent_p.V80V|SLC16A1_ENST00000433570.4_Silent_p.V80V	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	80					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CATATTTATTCACCAGGATAC	0.403000													5	49					0	0	0.184627	0	0
ZXDC	79364	broad.mit.edu	37	3	126193835	126193835	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:126193835C>G	ENST00000389709.3	-	1	927	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	ZXDC_ENST00000336332.5_Missense_Mutation_p.E292Q	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	292					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CGCTCGGGCTCGAAGTGGCTG	0.687000													2	11					0	0	0.115264	0	0
ZNF529	57711	broad.mit.edu	37	19	37038544	37038544	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:37038544C>T	ENST00000334116.7	-	6	1211	c.601G>A	c.(601-603)Gat>Aat	p.D201N	ZNF529_ENST00000591340.1_Missense_Mutation_p.D306N	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					GTTTTCTCATCAGTATGGATT	0.388000													13	57					0	0	0.435327	0	0
SH2D1B	117157	broad.mit.edu	37	1	162367106	162367106	+	Splice_Site	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:162367106C>A	ENST00000367929.2	-	4	473		c.e4-1		SH2D1B_ENST00000359567.3_Splice_Site	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B											kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGTTACTGTTCTTTGGAGGGA	0.468000													7	52					5.4927e-09	5.79295e-09	0.307466	1	0
TARBP2	6895	broad.mit.edu	37	12	53897505	53897505	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:53897505C>T	ENST00000266987.2	+	4	818	c.335C>T	c.(334-336)tCt>tTt	p.S112F	TARBP2_ENST00000456234.2_Missense_Mutation_p.S91F|TARBP2_ENST00000394357.2_Missense_Mutation_p.S91F|TARBP2_ENST00000552857.1_Missense_Mutation_p.S21F	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	112					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						AGTTCTTTTTCTCCCCTAGAC	0.562000													10	106					0	0	0.411799	0	0
MKRN3	7681	broad.mit.edu	37	15	23811991	23811991	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:23811991G>C	ENST00000314520.3	+	1	1538	c.1062G>C	c.(1060-1062)gaG>gaC	p.E354D	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Missense_Mutation_p.E114D	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	354						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GACAGTTTGAGAACAGGATCG	0.507000													15	144					0	0	0.479597	0	0
UNC79	57578	broad.mit.edu	37	14	94128992	94128992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:94128992C>T	ENST00000553484.1	+	42	6905	c.6751C>T	c.(6751-6753)Cag>Tag	p.Q2251*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.Q2052*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.Q2229*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.Q2190*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2229						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTTGTAATTCAGAATGCCGT	0.418000													5	29					0	0	0.217242	0	0
SUV420H1	51111	broad.mit.edu	37	11	67933414	67933414	+	Splice_Site	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:67933414C>G	ENST00000402789.1	-	11	1370	c.1176G>C	c.(1174-1176)aaG>aaC	p.K392N	SUV420H1_ENST00000401547.2_3'UTR|SUV420H1_ENST00000405515.1_3'UTR|SUV420H1_ENST00000304363.4_Intron			Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTTCAGGATTCTCTGTAGTGG	0.463000													31	72					0	0	0.819951	0	0
BRINP3	339479	broad.mit.edu	37	1	190250836	190250836	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:190250836C>T	ENST00000367462.3	-	3	512	c.281G>A	c.(280-282)aGa>aAa	p.R94K	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	94																	AAGGAAATTTCTTCTCTCAAC	0.398000													3	9					0	0	0.115264	0	0
RSC1A1	6248	broad.mit.edu	37	1	15986462	15986462	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:15986462C>G	ENST00000345034.1	+	1	99	c.99C>G	c.(97-99)gtC>gtG	p.V33V	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	33					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGCTCTGTCTCTGCTTCAG	0.478000													33	183					0	0	0.847076	0	0
USP20	10868	broad.mit.edu	37	9	132630629	132630629	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:132630629G>A	ENST00000315480.4	+	11	1194	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	USP20_ENST00000358355.1_Missense_Mutation_p.E346K|USP20_ENST00000372429.3_Missense_Mutation_p.E346K			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	346					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCAAGTGGACGAGGACGCTGA	0.667000													18	133					0	0	0.557998	0	0
TCTN2	79867	broad.mit.edu	37	12	124158295	124158295	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:124158295C>T	ENST00000303372.5	+	4	529	c.401C>T	c.(400-402)tCa>tTa	p.S134L	TCTN2_ENST00000426174.2_Missense_Mutation_p.S133L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	134					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCATCCTGTTCAGCACATCTA	0.448000													34	159					0	0	0.847076	0	0
EYA3	2140	broad.mit.edu	37	1	28365386	28365386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:28365386G>T	ENST00000373871.3	-	5	428	c.188C>A	c.(187-189)tCa>tAa	p.S63*	EYA3_ENST00000545175.1_Nonsense_Mutation_p.S10*|EYA3_ENST00000373864.1_5'UTR|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000373863.3_Nonsense_Mutation_p.S63*|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Nonsense_Mutation_p.S63*	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	63					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		ATCATTGGATGAGCGAGGGAT	0.318000													8	76					9.31168e-06	9.65002e-06	0.435327	1	0
MATR3	9782	broad.mit.edu	37	5	138643642	138643642	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:138643642G>A	ENST00000394800.2	+	6	1087	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	MATR3_ENST00000502499.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.E180K|MATR3_ENST00000394805.3_Missense_Mutation_p.E180K|MATR3_ENST00000502929.1_Missense_Mutation_p.E180K|MATR3_ENST00000509990.1_Missense_Mutation_p.E180K|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.E180K			P43243	MATR3_HUMAN	matrin 3	180						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGATTGGGAAGAAAAAAGGCA	0.453000													6	30					0	0	0.278610	0	0
PHACTR1	221692	broad.mit.edu	37	6	12934104	12934104	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:12934104G>C	ENST00000379348.2	+	4	667	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCTGCCTTTAGAGGGGGAAGA	0.502000													3	39					0	0	0.115264	0	0
CHD4	1108	broad.mit.edu	37	12	6692090	6692090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:6692090G>A	ENST00000309577.6	-	27	4407	c.4244C>T	c.(4243-4245)cCc>cTc	p.P1415L	CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000357008.2_Missense_Mutation_p.P1387L|CHD4_ENST00000544040.1_Missense_Mutation_p.P1380L|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.P1412L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1387					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTTACGACTGGGCCTACGGGG	0.448000													18	89					0	0	0.539581	0	0
RNF8	9025	broad.mit.edu	37	6	37358594	37358594	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:37358594G>T	ENST00000469731.1	+	7	1387	c.1313G>T	c.(1312-1314)gGa>gTa	p.G438V	RNF8_ENST00000373479.4_3'UTR			O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	0					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGATGGTCTGGAGGATTCTCT	0.488000													5	72					0.217242	0.218407	0.217242	1	0
AMDHD2	51005	broad.mit.edu	37	16	2578543	2578543	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2578543T>C	ENST00000302956.4	+	8	1047	c.953T>C	c.(952-954)cTg>cCg	p.L318P	AMDHD2_ENST00000293971.6_Missense_Mutation_p.L318P|AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.L318P			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	318					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GTGGACGGTCTGACGGCCTAC	0.701000													5	65					0	0	0.184627	0	0
TOR3A	64222	broad.mit.edu	37	1	179054980	179054980	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:179054980C>T	ENST00000367627.3	+	3	1343	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TOR3A_ENST00000352445.6_Silent_p.F197F|TOR3A_ENST00000495145.1_3'UTR	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	197					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCAGGATGTTCATCGCCACGT	0.592000													19	139					0	0	0.557998	0	0
MLPH	79083	broad.mit.edu	37	2	238402155	238402155	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:238402155G>A	ENST00000264605.3	+	2	380	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	MLPH_ENST00000409373.1_Missense_Mutation_p.R29Q|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.R29Q|MLPH_ENST00000410032.1_Missense_Mutation_p.R29Q|MLPH_ENST00000338530.4_Missense_Mutation_p.R29Q	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	29	RabBD.						metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TTTGACCTCCGAAGGAAAGAA	0.542000													16	99					0	0	0.520397	0	0
MAP1B	4131	broad.mit.edu	37	5	71492567	71492567	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:71492567G>A	ENST00000296755.7	+	5	3683	c.3385G>A	c.(3385-3387)Gag>Aag	p.E1129K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1129						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATATCCAGTGAGCCCACCCC	0.512000													6	42					0	0	0.307466	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	20					0	0	0.115264	0	0
CLEC1B	51266	broad.mit.edu	37	12	10149469	10149469	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:10149469C>A	ENST00000428126.2	-	5	584	c.315G>T	c.(313-315)ctG>ctT	p.L105L	CLEC1B_ENST00000348658.4_Silent_p.L105L|CLEC1B_ENST00000298527.6_Silent_p.L138L			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	138					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TGTCAATCTTCAGGAGAGTAG	0.398000													9	74					3.86212e-05	3.98044e-05	0.361761	1	0
OTOF	9381	broad.mit.edu	37	2	26700125	26700125	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:26700125C>T	ENST00000272371.2	-	21	2564	c.2438G>A	c.(2437-2439)cGg>cAg	p.R813Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R813Q|OTOF_ENST00000339598.3_Missense_Mutation_p.R66Q|OTOF_ENST00000338581.6_Missense_Mutation_p.R66Q|OTOF_ENST00000402415.3_Missense_Mutation_p.R123Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	813					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGGGCCCGCAGCATCCT	0.652000													5	29					0	0	0.184627	0	0
LILRB1	10859	broad.mit.edu	37	19	55143036	55143036	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:55143036C>G	ENST00000396331.1	+	5	513	c.156C>G	c.(154-156)ggC>ggG	p.G52G	LILRB1_ENST00000418536.2_Silent_p.G52G|LILRB1_ENST00000396315.1_Silent_p.G52G|LILRB1_ENST00000396321.2_Silent_p.G52G|LILRB1_ENST00000396332.4_Silent_p.G52G|LILRB1_ENST00000434867.2_Silent_p.G52G|LILRB1_ENST00000396317.1_Silent_p.G52G|LILRB1_ENST00000324602.7_Silent_p.G52G|LILRB1_ENST00000448689.1_Silent_p.G52G|LILRB1_ENST00000396327.3_Silent_p.G52G|LILRB1_ENST00000427581.2_Silent_p.G88G	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	52	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GTCAGGGGGGCCAGGAGACCC	0.577000										HNSCC(37;0.09)			3	113					0	0	0.115264	0	0
LYST	1130	broad.mit.edu	37	1	235920623	235920623	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:235920623G>A	ENST00000389794.3	-	24	7191	c.7017C>T	c.(7015-7017)ctC>ctT	p.L2339L	LYST_ENST00000389793.2_Silent_p.L2339L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2339					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.L2339L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGTGGTTAACGAGGACCAAAA	0.338000													9	62					0	0	0.387290	0	0
PHF11	51131	broad.mit.edu	37	13	50080827	50080827	+	Missense_Mutation	SNP	G	G	A	rs73188692	by1000genomes	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:50080827G>A	ENST00000357596.3	+	3	310	c.34G>A	c.(34-36)Gat>Aat	p.D12N	PHF11_ENST00000488958.1_Missense_Mutation_p.D12N|PHF11_ENST00000378319.3_Missense_Mutation_p.D51N	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CTGCCCCAAAGATGTCGAATA	0.363000													8	48					0	0	0.361761	0	0
DDX3X	1654	broad.mit.edu	37	X	41203033	41203033	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:41203033G>A	ENST00000399959.2	+	8	1578	c.723G>A	c.(721-723)caG>caA	p.Q241Q	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Intron|DDX3X_ENST00000457138.2_Silent_p.Q225Q|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	241	Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TCTTGAGTCAGATTTATTCAG	0.403000										HNSCC(61;0.18)			12	40					0	0	0.479597	0	0
CSF3R	1441	broad.mit.edu	37	1	36939118	36939118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:36939118C>G	ENST00000373103.1	-	6	1138	c.591G>C	c.(589-591)caG>caC	p.Q197H	CSF3R_ENST00000373106.1_Missense_Mutation_p.Q197H|CSF3R_ENST00000331941.5_Missense_Mutation_p.Q197H|CSF3R_ENST00000338937.5_Missense_Mutation_p.Q197H|CSF3R_ENST00000373104.1_Missense_Mutation_p.Q197H|CSF3R_ENST00000361632.4_Missense_Mutation_p.Q197H|CSF3R_ENST00000440588.2_Missense_Mutation_p.Q197H|CSF3R_ENST00000418048.2_Missense_Mutation_p.Q197H	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	197	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCCCATATTCTGGTACAACA	0.597000													30	164					0	0	0.729181	0	0
ERCC6	2074	broad.mit.edu	37	10	50740821	50740821	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:50740821C>T	ENST00000355832.5	-	2	268	c.190G>A	c.(190-192)Gca>Aca	p.A64T	PGBD3_ENST00000603152.1_Missense_Mutation_p.A64T|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A64T|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A64T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	64					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTCGGAGCTGCTGATGCGCAC	0.607000								Direct reversal of damage;Nucleotide excision repair (NER)					24	76					0	0	0.667858	0	0
GRIK3	2899	broad.mit.edu	37	1	37271815	37271815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:37271815G>A	ENST00000373091.3	-	14	2220	c.2204C>T	c.(2203-2205)gCg>gTg	p.A735V	GRIK3_ENST00000373093.4_Missense_Mutation_p.A735V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	735					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATGAGCAGCGCGTAGTCGGC	0.612000													16	170					0	0	0.575678	0	0
ATG7	10533	broad.mit.edu	37	3	11404346	11404346	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:11404346G>A	ENST00000354449.3	+	15	1768	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V	ATG7_ENST00000354956.5_Silent_p.V581V|ATG7_ENST00000446450.2_Silent_p.V542V	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	581					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GACTGGCCGTGATTGCAGGAG	0.488000													8	73					0	0	0.307466	0	0
MAML3	55534	broad.mit.edu	37	4	140646942	140646942	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:140646942C>G	ENST00000509479.2	-	4	3235	c.2379G>C	c.(2377-2379)cgG>cgC	p.R793R	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	789	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGTATGGATTCCGCTGTGGCT	0.512000													15	115					0	0	0.575678	0	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	8041391	8041391	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:8041391G>A	ENST00000439343.2	-	3	293	c.294C>T	c.(292-294)ctC>ctT	p.L98L	EEF1E1-BLOC1S5_ENST00000397456.2_3'UTR|BLOC1S5_ENST00000397457.2_Silent_p.L102L|BLOC1S5_ENST00000543936.1_Silent_p.L38L																							GAACCTGGCTGAGGCTGTCCC	0.383000													10	108					0	0	0.435327	0	0
CNBD2	140894	broad.mit.edu	37	20	34583040	34583040	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:34583040G>A	ENST00000373973.3	+	8	1109	c.936G>A	c.(934-936)ctG>ctA	p.L312L	CNBD2_ENST00000538900.1_Silent_p.L312L|CNBD2_ENST00000349339.1_Silent_p.L312L					cyclic nucleotide binding domain containing 2																		ACCTGGAGCTGATAGATGGCA	0.602000											OREG0025897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	106					0	0	0.479597	0	0
ZNF213	7760	broad.mit.edu	37	16	3191255	3191255	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:3191255C>T	ENST00000396878.3	+	6	1762	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	ZNF213_ENST00000574902.1_Silent_p.F429F|ZNF213_ENST00000416391.2_Silent_p.F271F|ZNF213_ENST00000576416.1_Silent_p.F429F	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	429					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGCGGCCCTTCGGCTGCGGAG	0.672000													11	99					0	0	0.435327	0	0
SF3B1	23451	broad.mit.edu	37	2	198263234	198263234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:198263234C>T	ENST00000335508.6	-	21	3176	c.3085G>A	c.(3085-3087)Gaa>Aaa	p.E1029K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTACTTTTTCATGTCTGTTC	0.343000			Mis		myelodysplastic syndrome								17	94					0	0	0.624587	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29849000	29849000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:29849000C>T	ENST00000325874.8	+	6	1055	c.826C>T	c.(826-828)Caa>Taa	p.Q276*	RAB11FIP4_ENST00000394744.2_Nonsense_Mutation_p.Q174*	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	276	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TTACTGCTCTCAATGCTGCAA	0.527000													19	141					0	0	0.624587	0	0
EDEM2	55741	broad.mit.edu	37	20	33722577	33722577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:33722577C>G	ENST00000540582.1	-	10	1264	c.543G>C	c.(541-543)ttG>ttC	p.L181F	EDEM2_ENST00000374492.3_Missense_Mutation_p.L222F|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374491.3_Missense_Mutation_p.L185F|EDEM2_ENST00000541621.1_5'UTR			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	222					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGAGGCGCATCAAAGCCACTC	0.577000													11	127					0	0	0.361761	0	0
PCF11	51585	broad.mit.edu	37	11	82879595	82879595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:82879595C>T	ENST00000298281.4	+	8	2670	c.2218C>T	c.(2218-2220)Cag>Tag	p.Q740*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	740	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGATACAAATCAGCGACTTAC	0.433000													18	67					0	0	0.654019	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988052	154988052	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154988052G>C	ENST00000368426.3	+	3	1053	c.916G>C	c.(916-918)Gat>Cat	p.D306H	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D340H|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D306H|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D306H	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	306					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			GCTGGGCTCAGATGAGGATGC	0.622000													7	85					0	0	0.307466	0	0
CMTR1	23070	broad.mit.edu	37	6	37426534	37426534	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:37426534C>T	ENST00000373451.4	+	9	1088	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_015050.2	NP_055865.1			cap methyltransferase 1	308																	CTAATGACTTCAAGCTGGAGG	0.522000													9	119					0	0	0.361761	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830926	13830926	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:13830926G>T	ENST00000284951.5	-	19	1932	c.1858C>A	c.(1858-1860)Caa>Aaa	p.Q620K	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.Q507K			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	620						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GGACTCGTTTGAGCAGCCATG	0.453000													10	74					3.07112e-06	3.19533e-06	0.387290	1	0
CHD6	84181	broad.mit.edu	37	20	40079711	40079711	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:40079711C>T	ENST00000373233.3	-	23	3735	c.3558G>A	c.(3556-3558)ggG>ggA	p.G1186G	CHD6_ENST00000309279.7_Silent_p.G669G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1186					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCGTCTTCTTCCCCTTCCTCC	0.517000													15	136					0	0	0.520397	0	0
NOA1	84273	broad.mit.edu	37	4	57829640	57829640	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:57829640C>A	ENST00000264230.4	-	7	3310	c.2073G>T	c.(2071-2073)aaG>aaT	p.K691N		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	691							GTP binding										TTCCTTTCTTCTTCCTCACGT	0.358000													21	88					2.39556e-15	2.56989e-15	0.639603	1	0
ZNF582	147948	broad.mit.edu	37	19	56895501	56895501	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56895501C>T	ENST00000301310.4	-	5	1443	c.1285G>A	c.(1285-1287)Ggg>Agg	p.G429R	ZNF582_ENST00000586929.1_Missense_Mutation_p.G429R	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		AAAGCCTTCCCACATTCCTTA	0.393000													5	49					0	0	0.184627	0	0
USP29	57663	broad.mit.edu	37	19	57640872	57640872	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57640872G>A	ENST00000254181.4	+	4	1283	c.829G>A	c.(829-831)Gac>Aac	p.D277N	USP29_ENST00000598197.1_Missense_Mutation_p.D277N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	277					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTGCCTCTTGACTCTCATTC	0.473000													5	30					0	0	0.184627	0	0
MUC16	94025	broad.mit.edu	37	19	9062124	9062124	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9062124G>T	ENST00000397910.4	-	3	25525	c.25322C>A	c.(25321-25323)cCc>cAc	p.P8441H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8443	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCACCACTGGGCACTTCAGA	0.522000													14	71					3.27435e-08	3.44503e-08	0.457914	1	0
TMEM67	91147	broad.mit.edu	37	8	94767349	94767349	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:94767349G>C	ENST00000453321.3	+	1	265	c.207G>C	c.(205-207)caG>caC	p.Q69H	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	69					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GAGCTAACCAGAGGCAAGATG	0.557000													19	196					0	0	0.667858	0	0
ESRRA	2101	broad.mit.edu	37	11	64082560	64082560	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:64082560C>G	ENST00000405666.1	+	6	1064	c.830C>G	c.(829-831)tCa>tGa	p.S277*	ESRRA_ENST00000406310.1_Nonsense_Mutation_p.S276*|ESRRA_ENST00000000442.6_Nonsense_Mutation_p.S277*	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	277	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GCCCAGCGCTCACTGCCACTG	0.647000													13	71					0	0	0.539581	0	0
RTEL1	51750	broad.mit.edu	37	20	62324221	62324221	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62324221G>C	ENST00000318100.4	+	29	3543	c.2716G>C	c.(2716-2718)Gag>Cag	p.E906Q	RTEL1_ENST00000370003.1_Missense_Mutation_p.E151Q|RTEL1_ENST00000360203.5_Missense_Mutation_p.E906Q|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.E906Q|RTEL1_ENST00000508582.2_Missense_Mutation_p.E930Q|RTEL1_ENST00000370018.3_Missense_Mutation_p.E906Q	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	906					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGTGAAGCAGGAGTTGAGCCA	0.652000													18	193					0	0	0.557998	0	0
ERBB2	2064	broad.mit.edu	37	17	37884048	37884048	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37884048C>G	ENST00000406381.2	+	29	3939	c.3429C>G	c.(3427-3429)ctC>ctG	p.L1143L	ERBB2_ENST00000541774.1_Silent_p.L1158L|ERBB2_ENST00000540147.1_Silent_p.L1143L|ERBB2_ENST00000584601.1_Silent_p.L1143L|ERBB2_ENST00000445658.2_Silent_p.L897L|ERBB2_ENST00000269571.5_Silent_p.L1173L|ERBB2_ENST00000584450.1_3'UTR	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1173					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCAAGACTCTCTCCCCAGGGA	0.642000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			8	61					0	0	0.361761	0	0
FLG	2312	broad.mit.edu	37	1	152279987	152279987	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:152279987G>C	ENST00000368799.1	-	3	7410	c.7375C>G	c.(7375-7377)Cag>Gag	p.Q2459E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2459	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGTCCTGACCCTCTTGG	0.587000									Ichthyosis				97	804					0	0	0.870114	0	0
S1PR1	1901	broad.mit.edu	37	1	101705413	101705413	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:101705413C>T	ENST00000305352.6	+	2	1248	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	291					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACATCCTCTTCAGAGCGGAGT	0.552000													54	468					0	0	0.870114	0	0
SLC22A23	63027	broad.mit.edu	37	6	3285315	3285315	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:3285315G>C	ENST00000436008.2	-	8	2039	c.1577C>G	c.(1576-1578)tCa>tGa	p.S526*	SLC22A23_ENST00000490273.1_Nonsense_Mutation_p.S245*|SLC22A23_ENST00000406686.3_Nonsense_Mutation_p.S526*|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Nonsense_Mutation_p.S245*			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	526					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GGACTCACCTGAGTCTGGGTG	0.527000													3	32					0	0	0.150653	0	0
IGSF10	285313	broad.mit.edu	37	3	151166756	151166756	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:151166756G>C	ENST00000282466.3	-	4	1012	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	338					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATGTCCTTGAGGGCTTTTG	0.413000													11	76					0	0	0.435327	0	0
CBLN2	147381	broad.mit.edu	37	18	70205477	70205477	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:70205477C>T	ENST00000269503.4	-	5	1382	c.609G>A	c.(607-609)gaG>gaA	p.E203E	CBLN2_ENST00000581073.1_Silent_p.E89E|CBLN2_ENST00000584764.1_Silent_p.E87E|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000585159.1_Silent_p.E203E	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	203	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GGTTGCCTCTCTCAAGTTTGA	0.527000													7	76					0	0	0.278610	0	0
TRIM28	10155	broad.mit.edu	37	19	59059693	59059693	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:59059693G>A	ENST00000253024.5	+	8	1423	c.1134G>A	c.(1132-1134)atG>atA	p.M378I	TRIM28_ENST00000341753.6_Missense_Mutation_p.M296I	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	378					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCTCAAGATGATTGTGGATC	0.532000													8	102					0	0	0.335167	0	0
FIGN	55137	broad.mit.edu	37	2	164466154	164466154	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:164466154C>T	ENST00000333129.3	-	3	2502	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	730						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAAGCATTTTCAAAGTCTTGA	0.463000													6	52					0	0	0.248553	0	0
LRRC46	90506	broad.mit.edu	37	17	45909489	45909489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:45909489G>A	ENST00000269025.4	+	2	397	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	12										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGTCCAGAGGAAGGGGGCGT	0.532000													16	155					0	0	0.575678	0	0
FREM2	341640	broad.mit.edu	37	13	39433625	39433625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:39433625C>T	ENST00000280481.7	+	14	7633	c.7417C>T	c.(7417-7419)Cag>Tag	p.Q2473*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2473					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATATACTTTCAGCCTGGCTC	0.542000													13	80					0	0	0.479597	0	0
OTUD7B	56957	broad.mit.edu	37	1	149921612	149921612	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:149921612G>T	ENST00000369135.4	-	9	1337	c.1043C>A	c.(1042-1044)tCc>tAc	p.S348Y		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B		Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CACCAGAGGGGAGCGGTGACA	0.512000													6	71					4.096e-09	4.32685e-09	0.217242	1	0
VIM	7431	broad.mit.edu	37	10	17276805	17276805	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:17276805C>T	ENST00000544301.1	+	6	1409	c.996C>T	c.(994-996)gcC>gcT	p.A332A	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Silent_p.A332A	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	332	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGTGGATGCCCTTAAAGGAA	0.517000													4	48					0	0	0.184627	0	0
PPEF2	5470	broad.mit.edu	37	4	76817437	76817437	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:76817437C>T	ENST00000286719.7	-	2	398	c.42G>A	c.(40-42)caG>caA	p.Q14Q	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	14					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTCTGCATTCTGGAAAGCAA	0.527000											OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	105					0	0	0.639603	0	0
COLQ	8292	broad.mit.edu	37	3	15512080	15512080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:15512080C>T	ENST00000383785.2	-	11	805	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	COLQ_ENST00000383787.2_Missense_Mutation_p.R218Q|COLQ_ENST00000383781.4_Missense_Mutation_p.R217Q|COLQ_ENST00000435459.2_Missense_Mutation_p.R217Q|COLQ_ENST00000603808.1_Missense_Mutation_p.R227Q|COLQ_ENST00000383788.5_Missense_Mutation_p.R227Q|COLQ_ENST00000383786.5_Missense_Mutation_p.R193Q			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	227	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TGTGGGTCCTCGGTGTCCTGC	0.552000													24	83					0	0	0.740014	0	0
USP20	10868	broad.mit.edu	37	9	132630421	132630421	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:132630421G>C	ENST00000315480.4	+	11	986	c.828G>C	c.(826-828)cgG>cgC	p.R276R	USP20_ENST00000358355.1_Silent_p.R276R|USP20_ENST00000372429.3_Silent_p.R276R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	276					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AGGGTGACCGGAGCCCATCAG	0.662000													24	166					0	0	0.717897	0	0
EN1	2019	broad.mit.edu	37	2	119600619	119600619	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:119600619G>A	ENST00000295206.6	-	2	1584	c.1074C>T	c.(1072-1074)atC>atT	p.I358I		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	358					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						TGGCTTTCTTGATCTTGGCGC	0.602000													10	62					0	0	0.361761	0	0
SYCP2L	221711	broad.mit.edu	37	6	10911094	10911094	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:10911094G>A	ENST00000283141.6	+	12	1206	c.910G>A	c.(910-912)Gag>Aag	p.E304K	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.E145K	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	304						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTTTGCTGATGAGCATGAGGT	0.403000													20	303					0	0	0.706142	0	0
SEC24A	10802	broad.mit.edu	37	5	134022530	134022530	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:134022530C>G	ENST00000398844.2	+	10	1830	c.1542C>G	c.(1540-1542)caC>caG	p.H514Q	SEC24A_ENST00000322887.4_Missense_Mutation_p.H514Q	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	514					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTGTCTCACAATGCAGTCG	0.333000													4	73					0	0	0.217242	0	0
B3GNT2	10678	broad.mit.edu	37	2	62450306	62450306	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:62450306G>C	ENST00000301998.4	+	2	1203	c.951G>C	c.(949-951)ctG>ctC	p.L317L	B3GNT2_ENST00000405767.1_Silent_p.L317L	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	317						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			ACCTGGCCCTGAGGCTGTACC	0.522000													23	97					0	0	0.681144	0	0
ZNF12	7559	broad.mit.edu	37	7	6730899	6730899	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6730899G>A	ENST00000405858.1	-	5	2215	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	ZNF12_ENST00000404360.1_Silent_p.F484F|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Silent_p.F520F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	558					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		ACATCTGAGAGAAGAATTTTC	0.413000													3	28					0	0	0.115264	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748225	68748225	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:68748225G>A	ENST00000309106.3	-	1	230	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAGCCATGCTGAAGAGGAAGA	0.552000													24	69					0	0	0.729181	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987446	154987446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154987446G>C	ENST00000368426.3	+	3	447	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E138Q|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E104Q|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E104Q|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	104	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			CGCCCTCCTTGAATTTGCCTA	0.647000													4	53					0	0	0.150653	0	0
RARG	5916	broad.mit.edu	37	12	53607028	53607028	+	Splice_Site	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:53607028C>T	ENST00000425354.2	-	9	1506		c.e9-1		RARG_ENST00000327550.3_Splice_Site|RARG_ENST00000338561.5_Splice_Site|RARG_ENST00000394426.1_Splice_Site|RARG_ENST00000543726.1_Splice_Site|RARG_ENST00000543762.1_Splice_Site	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma						canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCATGCGGTCTATGGGGACA	0.607000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	64					0	0	0.361761	0	0
SIKE1	80143	broad.mit.edu	37	1	115319072	115319072	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:115319072C>G	ENST00000369528.5	-	4	506	c.429G>C	c.(427-429)gaG>gaC	p.E143D	SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000060969.5_Missense_Mutation_p.E139D	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	139						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						CAATCTGACTCTCAATTTCCT	0.358000													6	101					0	0	0.278610	0	0
ARMC3	219681	broad.mit.edu	37	10	23321936	23321936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:23321936G>A	ENST00000298032.5	+	18	2477	c.2393G>A	c.(2392-2394)cGa>cAa	p.R798Q	ARMC3_ENST00000409983.3_Missense_Mutation_p.R791Q|ARMC3_ENST00000376528.4_Missense_Mutation_p.R535Q	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	798							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCTACCATCGAGCTTTGCTT	0.363000													5	21					0	0	0.307466	0	0
CBLC	23624	broad.mit.edu	37	19	45287647	45287647	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:45287647G>A	ENST00000270279.3	+	5	969	c.906G>A	c.(904-906)caG>caA	p.Q302Q	CBLC_ENST00000341505.4_Intron	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	302	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TGGAGGGACAGAAGGACGGCT	0.582000			M		AML						OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	98					0	0	0.654019	0	0
DPF3	8110	broad.mit.edu	37	14	73137950	73137950	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:73137950G>A	ENST00000541685.1	-	9	980	c.968C>T	c.(967-969)tCa>tTa	p.S323L	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.S333L|DPF3_ENST00000556509.1_Intron	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	151					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTGGAAAGTTGACGTGTCACT	0.577000													4	55					0	0	0.217242	0	0
STAB1	23166	broad.mit.edu	37	3	52557550	52557550	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:52557550C>T	ENST00000321725.6	+	65	7324	c.7248C>T	c.(7246-7248)atC>atT	p.I2416I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2416	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCAGCCTCATCATCAGTGACG	0.647000													17	57					0	0	0.592651	0	0
LYZL2	119180	broad.mit.edu	37	10	30915075	30915075	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:30915075C>T	ENST00000375318.2	-	3	451	c.395G>A	c.(394-396)gGa>gAa	p.G132E		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	86					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CTTCAGCTTTCCGCGTCTGCA	0.572000													17	139					0	0	0.608945	0	0
EPHB4	2050	broad.mit.edu	37	7	100404054	100404054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:100404054C>T	ENST00000358173.3	-	14	2940	c.2472G>A	c.(2470-2472)atG>atA	p.M824I	EPHB4_ENST00000360620.3_Missense_Mutation_p.M824I	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	824	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTGATTGCTCATGTCCCAGT	0.547000													18	78					0	0	0.608945	0	0
ZNF556	80032	broad.mit.edu	37	19	2876263	2876263	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:2876263G>A	ENST00000586426.1	+	3	390	c.303G>A	c.(301-303)gaG>gaA	p.E101E	ZNF556_ENST00000307635.2_Silent_p.E101E			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACCAAGGAGAGACATTTGA	0.453000													14	79					0	0	0.457914	0	0
CD177	57126	broad.mit.edu	37	19	43864482	43864482	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:43864482G>A	ENST00000378009.4	+	0	846				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				AGAACCCACTGATTGGACCAC	0.542000													5	29					0	0	0.217242	0	0
GAS2L1	10634	broad.mit.edu	37	22	29706489	29706489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:29706489G>A	ENST00000471961.1	+	2	1742	c.694G>A	c.(694-696)Gag>Aag	p.E232K	GAS2L1_ENST00000406549.3_Missense_Mutation_p.E232K|GAS2L1_ENST00000407854.1_Missense_Mutation_p.E232K|GAS2L1_ENST00000341313.6_Missense_Mutation_p.E232K|GAS2L1_ENST00000360113.2_Missense_Mutation_p.E232K|GAS2L1_ENST00000403764.1_Missense_Mutation_p.E232K|GAS2L1_ENST00000407647.2_Missense_Mutation_p.E232K			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	232	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CAAGGTCTCAGAGGGGAAGTA	0.647000													19	120					0	0	0.654019	0	0
MAP4	4134	broad.mit.edu	37	3	47958225	47958225	+	Silent	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:47958225T>C	ENST00000426837.2	-	8	1230	c.1143A>G	c.(1141-1143)ttA>ttG	p.L381L	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.L364L|MAP4_ENST00000395734.3_Silent_p.L364L			P27816	MAP4_HUMAN	microtubule-associated protein 4	364	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.L364L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGAAGGGGCTAAGTCCATTT	0.478000													3	119					0	0	0.115264	0	0
RNFT1	51136	broad.mit.edu	37	17	58040624	58040624	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:58040624C>G	ENST00000305783.8	-	2	133	c.78G>C	c.(76-78)aaG>aaC	p.K26N	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_5'UTR	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	26						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			ACCCAGATGTCTTTGCTTCAG	0.433000													11	75					0	0	0.411799	0	0
JADE3	9767	broad.mit.edu	37	X	46913947	46913947	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:46913947G>A	ENST00000218343.4	+	9	1658	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	PHF16_ENST00000397189.1_Missense_Mutation_p.E454K	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		454					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGAGGATGAAGAAAATGGGCT	0.458000													4	11					0	0	0.150653	0	0
SRCAP	10847	broad.mit.edu	37	16	30715622	30715622	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:30715622G>A	ENST00000262518.4	+	4	677	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E98K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E98K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	98					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CGAAATTGCAGAACAGGCCAA	0.493000													31	178					0	0	0.827153	0	0
E2F5	1875	broad.mit.edu	37	8	86121423	86121423	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:86121423C>T	ENST00000418930.2	+	6	858	c.662C>T	c.(661-663)tCa>tTa	p.S221L	E2F5_ENST00000521429.1_Missense_Mutation_p.S48L|E2F5_ENST00000256117.5_Missense_Mutation_p.S222L|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.S221L|E2F5_ENST00000517476.1_Missense_Mutation_p.S60L			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	221					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						AAGAGTCATTCAGGACCTATC	0.393000													5	38					0	0	0.248553	0	0
NDUFB1	4707	broad.mit.edu	37	14	92588065	92588065	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:92588065C>T	ENST00000329559.3	-	1	196	c.57G>A	c.(55-57)ccG>ccA	p.P19P	NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000553514.1_5'UTR	NM_004545.3	NP_004536.2	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	GCTGCGACCTCGGGACCTGCC	0.612000													13	94					0	0	0.500413	0	0
GAS2L1	10634	broad.mit.edu	37	22	29706991	29706991	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:29706991G>A	ENST00000341313.6	+	5	1145	c.1013G>A	c.(1012-1014)tGa>tAa	p.*338*	GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000407854.1_Intron|GAS2L1_ENST00000360113.2_Intron|GAS2L1_ENST00000403764.1_Intron|GAS2L1_ENST00000407647.2_Intron|GAS2L1_ENST00000471961.1_Intron			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	0					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCACCCAGGTGAGATGCAGGA	0.667000													11	54					0	0	0.435327	0	0
MUC16	94025	broad.mit.edu	37	19	9091500	9091500	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:9091500C>T	ENST00000397910.4	-	1	518	c.315G>A	c.(313-315)ctG>ctA	p.L105L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	105	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGGGGACTCAGCGATGGGC	0.537000													22	130					0	0	0.624587	0	0
GBP1P1	400759	broad.mit.edu	37	1	89885758	89885758	+	RNA	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:89885758C>T	ENST00000513638.1	+	0	298					NR_003133.2																						AGGCTTCTCTCTGGGCTCCAC	0.507000													6	58					0	0	0.278610	0	0
MARCH10	162333	broad.mit.edu	37	17	60814201	60814201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:60814201G>C	ENST00000544856.2	-	7	1403	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C	MARCH10_ENST00000456609.2_Missense_Mutation_p.S343C|MARCH10_ENST00000583600.1_Missense_Mutation_p.S381C|MARCH10_ENST00000311269.5_Missense_Mutation_p.S343C|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	343							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCTTCTTGAAGAATGACCTCT	0.458000													16	71					0	0	0.520397	0	0
P2RX3	5024	broad.mit.edu	37	11	57137369	57137369	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:57137369A>G	ENST00000263314.2	+	12	1127	c.1093A>G	c.(1093-1095)Acg>Gcg	p.T365A		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	365					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GAATGAGACTACGCTGAAAAT	0.552000													14	28					0	0	0.479597	0	0
BRD2	6046	broad.mit.edu	37	6	32945290	32945290	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32945290C>G	ENST00000395289.2	+	8	2873	c.1272C>G	c.(1270-1272)aaC>aaG	p.N424K	BRD2_ENST00000374825.4_Missense_Mutation_p.N424K|BRD2_ENST00000443797.2_Missense_Mutation_p.N304K|BRD2_ENST00000449085.2_Missense_Mutation_p.N377K|BRD2_ENST00000374831.4_Missense_Mutation_p.N424K|BRD2_ENST00000395287.1_Missense_Mutation_p.N424K			P25440	BRD2_HUMAN	bromodomain containing 2	424	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TGTTCTCCAACTGCTATAAGT	0.488000													31	221					0	0	0.812448	0	0
SUSD2	56241	broad.mit.edu	37	22	24579487	24579487	+	Silent	SNP	C	C	A	rs143350390	byFrequency	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:24579487C>A	ENST00000358321.3	+	3	573	c.312C>A	c.(310-312)ctC>ctA	p.L104L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	104					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCCAGACCCTCGGCCATGTGG	0.627000													30	264					2.52637e-11	2.68389e-11	0.812448	1	0
CDH16	1014	broad.mit.edu	37	16	66949265	66949265	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:66949265G>T	ENST00000299752.4	-	6	634	c.441C>A	c.(439-441)ttC>ttA	p.F147L	CDH16_ENST00000568632.1_Intron|CDH16_ENST00000565796.1_Missense_Mutation_p.F147L|CDH16_ENST00000570262.1_Missense_Mutation_p.F67L|CDH16_ENST00000394055.3_Missense_Mutation_p.F147L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	147	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AAGCCTCAAGGAAGAGGAAGG	0.582000													18	75					4.72057e-08	4.95868e-08	0.667858	1	0
FAM175B	23172	broad.mit.edu	37	10	126523473	126523473	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:126523473C>T	ENST00000298492.5	+	9	1226	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	394						BRISC complex	polyubiquitin binding			NS(1)	1						TACTCACATTCAAAGGATTCT	0.463000													14	47					0	0	0.520397	0	0
FUBP1	8880	broad.mit.edu	37	1	78444569	78444569	+	Splice_Site	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:78444569C>T	ENST00000370767.1	-	1	207	c.120G>A	c.(118-120)caG>caA	p.Q40Q	FUBP1_ENST00000436586.2_Splice_Site_p.Q40Q|FUBP1_ENST00000370768.2_Splice_Site_p.Q40Q			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	40					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCACACTTACCTGCCGGGCTC	0.612000			"""F, N"""		oligodendroglioma								47	397					0	0	0.870114	0	0
NBPF10	100132406	broad.mit.edu	37	1	145311808	145311808	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:145311808G>A	ENST00000369338.1	+	10	1247	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	NBPF10_ENST00000342960.5_Intron|NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	626										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGCTGGATGAGAAAGGGCC	0.483000													4	33					0	0	0.184627	0	0
COL8A2	1296	broad.mit.edu	37	1	36564306	36564306	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:36564306C>G	ENST00000397799.1	-	4	1200	c.976G>C	c.(976-978)Gac>Cac	p.D326H	COL8A2_ENST00000303143.4_Missense_Mutation_p.D326H|COL8A2_ENST00000481785.1_Missense_Mutation_p.D261H			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	326	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCCCCTGTCCCCCTTGGGG	0.726000													3	32					0	0	0.184627	0	0
SAPCD1	401251	broad.mit.edu	37	6	31731217	31731217	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:31731217G>A	ENST00000415669.2	+	2	199	c.140G>A	c.(139-141)aGa>aAa	p.R47K	SAPCD1_ENST00000425424.1_Missense_Mutation_p.R47K|MSH5_ENST00000534153.4_3'UTR|MSH5-SAPCD1_ENST00000493662.2_3'UTR	NM_001039651.1	NP_001034740.1	Q5SSQ6	G7D_HUMAN	suppressor APC domain containing 1	47																	GCTCTGGAGAGAGAACAGGAT	0.592000													10	88					0	0	0.411799	0	0
MAD2L1	4085	broad.mit.edu	37	4	120987847	120987847	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:120987847C>T	ENST00000296509.6	-	1	382	c.43G>A	c.(43-45)Ggg>Agg	p.G15R		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)		HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TCGGCGCTCCCGCGCAGGGTG	0.637000													8	63					0	0	0.361761	0	0
DNAH10	196385	broad.mit.edu	37	12	124409711	124409711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:124409711C>T	ENST00000409039.3	+	67	11552	c.11527C>T	c.(11527-11529)Cgg>Tgg	p.R3843W	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3843					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCGGGTCTATCGGGCCGTGAC	0.498000													14	102					0	0	0.520397	0	0
SF3A3	10946	broad.mit.edu	37	1	38446330	38446330	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:38446330C>G	ENST00000373019.4	-	8	1573	c.618G>C	c.(616-618)caG>caC	p.Q206H	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.Q153H	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	206					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAGTTCATTCTGATCTTGGA	0.458000													7	77					0	0	0.335167	0	0
SCUBE3	222663	broad.mit.edu	37	6	35216431	35216431	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:35216431C>A	ENST00000274938.7	+	22	2931	c.2931C>A	c.(2929-2931)ttC>ttA	p.F977L	SCUBE3_ENST00000394681.1_Missense_Mutation_p.F993L	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	977					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CAAAATCCTTCATCAAGCTGC	0.493000													16	89					1.5739e-10	1.66797e-10	0.500413	1	0
STARD3	10948	broad.mit.edu	37	17	37810000	37810000	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:37810000G>C	ENST00000336308.5	+	2	434	c.216G>C	c.(214-216)ctG>ctC	p.L72L	STARD3_ENST00000580611.1_Silent_p.L72L|STARD3_ENST00000394250.4_Silent_p.L72L|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000544210.2_Silent_p.L72L	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	72	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCATCGAACTGAATGTGAGTG	0.622000											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	107					0	0	0.435327	0	0
TLL2	7093	broad.mit.edu	37	10	98205917	98205917	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:98205917C>G	ENST00000357947.3	-	3	520	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	99					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCTGCTCTTCAAGCCCACCT	0.557000													29	92					0	0	0.717897	0	0
PRR23A	729627	broad.mit.edu	37	3	138724388	138724388	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:138724388C>T	ENST00000383163.2	-	1	722	c.723G>A	c.(721-723)ggG>ggA	p.G241G		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	241	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						GACCTGGACTCCCCACGCGCG	0.652000													2	1					0	0	0.115264	0	0
PLEC	5339	broad.mit.edu	37	8	144995185	144995185	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144995185G>T	ENST00000322810.4	-	32	9384	c.9215C>A	c.(9214-9216)gCa>gAa	p.A3072E	PLEC_ENST00000354589.3_Missense_Mutation_p.A2935E|PLEC_ENST00000345136.3_Missense_Mutation_p.A2935E|PLEC_ENST00000398774.2_Missense_Mutation_p.A2903E|PLEC_ENST00000436759.2_Missense_Mutation_p.A2962E|PLEC_ENST00000354958.2_Missense_Mutation_p.A2913E|PLEC_ENST00000527096.1_Missense_Mutation_p.A2958E|PLEC_ENST00000357649.2_Missense_Mutation_p.A2939E|PLEC_ENST00000356346.3_Missense_Mutation_p.A2921E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3072	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGCTGCTCTGCCGTGAAGTA	0.597000													64	160					3.76054e-38	4.07081e-38	0.870114	1	0
RP11-556N21.1	0	broad.mit.edu	37	13	25144762	25144762	+	RNA	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:25144762G>T	ENST00000453498.1	+	0	303																											GTATGAATATGAACAACAGAG	0.473000													4	33					0.00909568	0.00924363	0.150653	1	0
BICD1	636	broad.mit.edu	37	12	32480797	32480797	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:32480797G>C	ENST00000548411.1	+	5	1589	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	BICD1_ENST00000281474.5_Missense_Mutation_p.E470Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	470					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GACAAGCCTTGAGAAGACCAC	0.418000													3	40					0	0	0.115264	0	0
UNC13B	10497	broad.mit.edu	37	9	35310490	35310490	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:35310490C>T	ENST00000378495.3	+	9	1010	c.788C>T	c.(787-789)tCc>tTc	p.S263F	UNC13B_ENST00000378496.4_Missense_Mutation_p.S263F|UNC13B_ENST00000396787.1_Missense_Mutation_p.S275F	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	263					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTATGGCTCCTCCTGTAAT	0.468000													14	107					0	0	0.500413	0	0
BTBD7	55727	broad.mit.edu	37	14	93730309	93730309	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:93730309G>A	ENST00000334746.5	-	4	1500	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.S47L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	398										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GGTATCTAATGAGATGCTCTC	0.388000													7	58					0	0	0.335167	0	0
ZNF623	9831	broad.mit.edu	37	8	144733612	144733612	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144733612G>T	ENST00000501748.2	+	1	1659	c.1570G>T	c.(1570-1572)Gag>Tag	p.E524*	ZNF623_ENST00000458270.2_Nonsense_Mutation_p.E484*|ZNF623_ENST00000526926.1_Nonsense_Mutation_p.E484*	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACATTTGGGTGAGAGGTCTGT	0.413000													7	75					0.0135373	0.0137468	0.411799	1	0
KLC1	3831	broad.mit.edu	37	14	104121117	104121117	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:104121117C>T	ENST00000389744.4	+	2	485	c.216C>T	c.(214-216)atC>atT	p.I72I	KLC1_ENST00000555836.1_Silent_p.I72I|KLC1_ENST00000557575.1_Silent_p.I72I|KLC1_ENST00000445352.4_Silent_p.I72I|KLC1_ENST00000348520.6_Silent_p.I72I|KLC1_ENST00000557450.1_Silent_p.I72I|KLC1_ENST00000553286.1_Silent_p.I72I|KLC1_ENST00000347839.6_Silent_p.I72I|KLC1_ENST00000334553.6_Silent_p.I72I|KLC1_ENST00000554280.1_Silent_p.I72I|KLC1_ENST00000246489.7_Silent_p.I72I|KLC1_ENST00000452929.2_Silent_p.I72I|KLC1_ENST00000380038.3_Silent_p.I72I|RP11-73M18.2_ENST00000472726.2_Silent_p.I244I			Q07866	KLC1_HUMAN	kinesin light chain 1	72					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				CAAACATGATCCGGAAGTCAC	0.423000													9	61					0	0	0.361761	0	0
DCX	1641	broad.mit.edu	37	X	110653275	110653275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:110653275C>T	ENST00000338081.3	-	2	766	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.E118K|DCX_ENST00000356220.3_Missense_Mutation_p.E118K|DCX_ENST00000356915.2_Missense_Mutation_p.E118K|DCX_ENST00000371993.2_Missense_Mutation_p.E118K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	199	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCCTCCAGTTCATCCATGCTT	0.468000													13	50					0	0	0.479597	0	0
NXF1	10482	broad.mit.edu	37	11	62569489	62569489	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:62569489G>C	ENST00000531709.2	-	5	596	c.483C>G	c.(481-483)ttC>ttG	p.F161L	NXF1_ENST00000439713.2_Missense_Mutation_p.F161L|NXF1_ENST00000531131.1_Missense_Mutation_p.F24L|NXF1_ENST00000532297.1_Missense_Mutation_p.F161L|NXF1_ENST00000294172.2_Missense_Mutation_p.F161L	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	161	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCAACGAAGAACTGGGCCC	0.522000													17	105					0	0	0.639603	0	0
IGLV3-10	28803	broad.mit.edu	37	22	23154663	23154663	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:23154663G>A	ENST00000390315.2	+	0	267																											CGGGATCCCTGAGAGATTCTC	0.527000													8	43					0	0	0.387290	0	0
ZNF260	339324	broad.mit.edu	37	19	37005801	37005801	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:37005801C>T	ENST00000523638.1	-	3	1461	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	ZNF260_ENST00000593142.1_Missense_Mutation_p.E114K|ZNF260_ENST00000592282.1_Missense_Mutation_p.E114K|ZNF260_ENST00000588993.1_Missense_Mutation_p.E114K	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	114					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GAAACTTTTTCACATTCATAA	0.388000													13	60					0	0	0.435327	0	0
PLA2R1	22925	broad.mit.edu	37	2	160869838	160869838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160869838G>A	ENST00000283243.7	-	10	1806	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.R534*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	534	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCAAAGCTTCGAAGGACTGTG	0.368000													8	49					0	0	0.411799	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027928	92027928	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:92027928G>C	ENST00000265742.3	+	20	3311	c.2935G>C	c.(2935-2937)Gac>Cac	p.D979H		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	979							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)			TTGGTTTCATGACATGAACCC	0.478000													20	96					0	0	0.667858	0	0
PRKDC	5591	broad.mit.edu	37	8	48772207	48772207	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:48772207C>T	ENST00000314191.2	-	47	6225	c.6169G>A	c.(6169-6171)Gac>Aac	p.D2057N	PRKDC_ENST00000338368.3_Missense_Mutation_p.D2057N|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2058					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTCTAGGGTCTTGGGAGCTG	0.443000								Non-homologous end-joining					23	173					0	0	0.760397	0	0
MED12L	116931	broad.mit.edu	37	3	150903167	150903167	+	Silent	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:150903167G>T	ENST00000474524.1	+	11	1583	c.1545G>T	c.(1543-1545)gtG>gtT	p.V515V	MED12L_ENST00000309237.4_Silent_p.V515V|MED12L_ENST00000273432.4_Silent_p.V375V|MED12L_ENST00000422248.2_Silent_p.V515V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	515					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGGGCCGTGAGCTGCAAAC	0.517000													10	96					2.27111e-07	2.37426e-07	0.411799	1	0
RNF139	11236	broad.mit.edu	37	8	125487527	125487527	+	Silent	SNP	C	C	G	rs142523795		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:125487527C>G	ENST00000303545.3	+	1	549	c.177C>G	c.(175-177)ctC>ctG	p.L59L		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	59					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTCCGGCTCTTTGGTAAGG	0.627000													16	167					0	0	0.592651	0	0
TIMELESS	8914	broad.mit.edu	37	12	56827390	56827390	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:56827390G>A	ENST00000229201.4	-	4	452	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	TIMELESS_ENST00000553532.1_Silent_p.L100L|TIMELESS_ENST00000554616.1_Silent_p.L100L	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	100					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCCTTAGGCAGATTGCCAAAA	0.483000													14	80					0	0	0.457914	0	0
SPON1	10418	broad.mit.edu	37	11	14280896	14280896	+	RNA	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14280896G>A	ENST00000310358.7	+	0	2098							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GCATGGGCATGAGGTCCCGGG	0.627000													7	46					0	0	0.361761	0	0
MGA	23269	broad.mit.edu	37	15	42058963	42058963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:42058963G>A	ENST00000219905.7	+	24	8864	c.8683G>A	c.(8683-8685)Gac>Aac	p.D2895N	MGA_ENST00000545763.1_Missense_Mutation_p.D2686N|MGA_ENST00000566586.1_Missense_Mutation_p.D2686N|MGA_ENST00000570161.1_Missense_Mutation_p.D2895N|MGA_ENST00000389936.4_Missense_Mutation_p.D2856N	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2856						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGGGAGAGTGACTCTATCAG	0.463000													19	59					0	0	0.654019	0	0
HEATR4	399671	broad.mit.edu	37	14	73959790	73959790	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:73959790C>T	ENST00000553558.1	-	17	3145	c.2824G>A	c.(2824-2826)Gac>Aac	p.D942N	HEATR4_ENST00000334988.2_Missense_Mutation_p.D942N|HEATR4_ENST00000560393.1_Missense_Mutation_p.D895N|C14orf169_ENST00000531973.1_RNA	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GCTTCAGTGTCACAAACCTCG	0.398000													7	82					0	0	0.361761	0	0
EVPL	2125	broad.mit.edu	37	17	74005809	74005809	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:74005809G>A	ENST00000301607.3	-	22	3730	c.3477C>T	c.(3475-3477)ctC>ctT	p.L1159L	EVPL_ENST00000586740.1_Silent_p.L1181L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1159	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTCCTCCTCGAGGAGGCTCC	0.627000													4	63					0	0	0.150653	0	0
FAM114A1	92689	broad.mit.edu	37	4	38910248	38910248	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:38910248G>A	ENST00000358869.2	+	7	869	c.693G>A	c.(691-693)ttG>ttA	p.L231L	FAM114A1_ENST00000515037.1_Silent_p.L24L	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	231						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGATGCGTTGGAATTCATCG	0.468000													7	64					0	0	0.248553	0	0
GALR1	2587	broad.mit.edu	37	18	74962762	74962762	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:74962762C>G	ENST00000299727.3	+	1	258	c.258C>G	c.(256-258)ctC>ctG	p.L86L		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	86					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.L86L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCTACCTGCTCTTCTGCATCC	0.622000													55	200					0	0	0.870114	0	0
HDAC2	3066	broad.mit.edu	37	6	114274470	114274470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:114274470C>T	ENST00000519065.1	-	6	986	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	HDAC2_ENST00000368632.2_Missense_Mutation_p.E174K|HDAC2_ENST00000398283.2_Missense_Mutation_p.E298K|HDAC2_ENST00000519108.1_Missense_Mutation_p.E174K			Q92769	HDAC2_HUMAN	histone deacetylase 2	204	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GGAAAGTATTCCCCATATTTA	0.348000													17	120					0	0	0.575678	0	0
STX4	6810	broad.mit.edu	37	16	31049270	31049270	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:31049270C>T	ENST00000394998.1	+	7	739	c.396C>T	c.(394-396)ttC>ttT	p.F132F	STX4_ENST00000313843.3_Silent_p.F134F|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	134					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CCCAGCAATTCGTGGAGCTCA	0.547000													10	106					0	0	0.387290	0	0
TTYH1	57348	broad.mit.edu	37	19	54942276	54942276	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:54942276G>A	ENST00000301194.4	+	10	1154		c.e10-1		TTYH1_ENST00000376530.3_Splice_Site|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000489425.1_Splice_Site|TTYH1_ENST00000376531.3_Splice_Site|TTYH1_ENST00000391739.3_Splice_Site			Q9H313	TTYH1_HUMAN	tweety family member 1						cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TCGCCCCGCAGAAGCCTCTGC	0.637000													22	104					0	0	0.729181	0	0
TRIM38	10475	broad.mit.edu	37	6	25967132	25967132	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:25967132C>T	ENST00000357085.3	+	3	858	c.382C>T	c.(382-384)Ctt>Ttt	p.L128F	TRIM38_ENST00000349458.3_Missense_Mutation_p.L128F	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	128					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CACCACAGCTCTTGTTGAAGA	0.572000													17	132					0	0	0.592651	0	0
TRAF2	7186	broad.mit.edu	37	9	139794080	139794080	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:139794080G>A	ENST00000359662.3	+	3	268	c.223G>A	c.(223-225)Gag>Aag	p.E75K	TRAF2_ENST00000536468.1_Missense_Mutation_p.E75K|TRAF2_ENST00000247668.2_Missense_Mutation_p.E75K			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	75					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CTGTGTTCACGAGGGCATATA	0.383000													15	78					0	0	0.539581	0	0
PLA2R1	22925	broad.mit.edu	37	2	160832638	160832638	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:160832638C>T	ENST00000283243.7	-	17	2742	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D846N	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	846	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTGAGAAGATCACTGTGCAGC	0.403000													7	61					0	0	0.278610	0	0
NXF3	56000	broad.mit.edu	37	X	102337131	102337131	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:102337131C>A	ENST00000425463.2	-	8	978	c.675G>T	c.(673-675)gcG>gcT	p.A225A	NXF3_ENST00000425644.1_Intron|NXF3_ENST00000395065.3_Intron			Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	317						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCAGAAGGGCGCTATCAAAC	0.562000													16	60					0.000566183	0.000579885	0.520397	1	0
EFCAB4B	84766	broad.mit.edu	37	12	3789434	3789434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:3789434G>C	ENST00000440314.2	-	5	783	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.L104V|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.L104V	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	104	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGTGGGGTCAGATAGCCATTG	0.512000													15	97					0	0	0.592651	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18167964	18167964	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:18167964C>T	ENST00000435364.3	+	10	2551	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.S736L|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S609L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein		N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CTTCACGTCTCAGCAAGCAAC	0.403000													14	134					0	0	0.539581	0	0
IRX5	10265	broad.mit.edu	37	16	54967531	54967531	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:54967531C>T	ENST00000394636.4	+	3	1535	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	IRX5_ENST00000320990.5_Missense_Mutation_p.R399W|IRX5_ENST00000560154.1_Missense_Mutation_p.R180W|IRX5_ENST00000558597.1_Missense_Mutation_p.R334W			P78411	IRX5_HUMAN	iroquois homeobox 5	400					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGTGCTGTCCCGGCCTCTCTA	0.711000													9	39					0	0	0.335167	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179883175	179883175	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:179883175C>G	ENST00000606911.2	+	9	1141	c.950C>G	c.(949-951)tCa>tGa	p.S317*	TOR1AIP1_ENST00000528443.2_Nonsense_Mutation_p.S318*|TOR1AIP1_ENST00000271583.3_Nonsense_Mutation_p.S333*|TOR1AIP1_ENST00000435319.4_Nonsense_Mutation_p.S196*|TOR1AIP1_ENST00000474875.1_3'UTR			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1							integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CAGTCACCATCAACCTCCAGC	0.303000													4	52					0	0	0.248553	0	0
GCN1L1	10985	broad.mit.edu	37	12	120592798	120592798	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:120592798G>C	ENST00000300648.6	-	31	3689	c.3677C>G	c.(3676-3678)tCt>tGt	p.S1226C		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1226					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTGGAGGAGATTCTGAAAT	0.532000													13	103					0	0	0.435327	0	0
RUSC1	23623	broad.mit.edu	37	1	155292224	155292224	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:155292224C>T	ENST00000368352.5	+	2	811	c.660C>T	c.(658-660)atC>atT	p.I220I	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Silent_p.I220I	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	220						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ATGGGAAAATCGACGCTGGGA	0.502000													6	61					0	0	0.278610	0	0
RNF139	11236	broad.mit.edu	37	8	125487428	125487428	+	Silent	SNP	C	C	G	rs147204700		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:125487428C>G	ENST00000303545.3	+	1	450	c.78C>G	c.(76-78)ctC>ctG	p.L26L		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	26					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGTGGCGCTCCGGGTGCCCT	0.662000													12	102					0	0	0.457914	0	0
MATN4	8785	broad.mit.edu	37	20	43933126	43933126	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:43933126C>T	ENST00000537548.1	-	4	629	c.385G>A	c.(385-387)Gag>Aag	p.E129K	MATN4_ENST00000372756.1_Missense_Mutation_p.E129K|MATN4_ENST00000360607.6_Missense_Mutation_p.E129K|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.E129K|MATN4_ENST00000342716.4_Missense_Mutation_p.E129K|MATN4_ENST00000353917.5_Missense_Mutation_p.E129K			O95460	MATN4_HUMAN	matrilin 4	129	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGCGCGCCCTCGGCCACACTG	0.711000													4	17					0	0	0.184627	0	0
ZNF623	9831	broad.mit.edu	37	8	144733392	144733392	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:144733392G>C	ENST00000501748.2	+	1	1439	c.1350G>C	c.(1348-1350)caG>caC	p.Q450H	ZNF623_ENST00000458270.2_Missense_Mutation_p.Q410H|ZNF623_ENST00000526926.1_Missense_Mutation_p.Q410H	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCTGCACCAGATTATTCACA	0.463000													13	96					0	0	0.520397	0	0
COQ4	51117	broad.mit.edu	37	9	131087436	131087436	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:131087436C>T	ENST00000300452.3	+	3	540	c.217C>T	c.(217-219)Cta>Tta	p.L73L	COQ4_ENST00000372875.3_Silent_p.L73L	NM_016035.3	NP_057119	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	73					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						GGTCGCAGTTCTAGGGGAGAC	0.557000													7	35					0	0	0.335167	0	0
INO80	54617	broad.mit.edu	37	15	41362724	41362724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:41362724C>T	ENST00000361937.3	-	13	2051	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	INO80_ENST00000401393.3_Missense_Mutation_p.D543N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	543	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCCATTTCATCAGCAAGAATG	0.408000													21	61					0	0	0.693898	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39387537	39387537	+	Silent	SNP	C	C	T	rs144471703		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:39387537C>T	ENST00000402182.3	+	6	979	c.924C>T	c.(922-924)ttC>ttT	p.F308F	APOBEC3B_ENST00000407298.3_Silent_p.F283F|APOBEC3B_ENST00000333467.3_Silent_p.F308F			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	308					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGCGCATCTTCGCTGCCCGCA	0.572000													32	173					0	0	0.819951	0	0
BBS9	27241	broad.mit.edu	37	7	33392470	33392470	+	Splice_Site	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:33392470G>C	ENST00000242067.6	+	15	2058		c.e15-1		BBS9_ENST00000396127.2_Splice_Site|BBS9_ENST00000354265.4_Intron|BBS9_ENST00000350941.3_Intron|BBS9_ENST00000355070.2_Intron	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTGATGGACAGATCGAAATCC	0.323000									Bardet-Biedl syndrome				11	48					0	0	0.435327	0	0
ZNF112	7665	broad.mit.edu	37	19	44832181	44832181	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:44832181G>A	ENST00000354340.4	-	4	2180	c.2129C>T	c.(2128-2130)tCt>tTt	p.S710F	ZNF112_ENST00000337401.4_Missense_Mutation_p.S716F|ZNF112_ENST00000536500.1_Missense_Mutation_p.S733F	NM_013380.3	NP_037512.3			zinc finger protein 112																		TCTTTCTCCAGAATGGACACT	0.453000													7	44					0	0	0.335167	0	0
DROSHA	29102	broad.mit.edu	37	5	31515224	31515224	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:31515224G>C	ENST00000511367.2	-	7	1405	c.1161C>G	c.(1159-1161)atC>atG	p.I387M	DROSHA_ENST00000513349.1_Missense_Mutation_p.I350M|DROSHA_ENST00000344624.3_Missense_Mutation_p.I387M|DROSHA_ENST00000442743.1_Missense_Mutation_p.I350M	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	387					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTTTTTCCTTGATTGAGGTAT	0.468000													7	65					0	0	0.248553	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804708	21804708	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:21804708G>A	ENST00000449193.2	-	4	4296	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	SKIDA1_ENST00000444772.3_Silent_p.L603L	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		ATATTGTGCAGAAATGGCAAT	0.433000													6	48					0	0	0.248553	0	0
KIF19	124602	broad.mit.edu	37	17	72348427	72348427	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:72348427G>A	ENST00000389916.4	+	14	2066	c.1928G>A	c.(1927-1929)gGc>gAc	p.G643D		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	643					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGGAGGAGGGCAGCCTGGAG	0.672000													4	44					0	0	0.150653	0	0
SYNE1	23345	broad.mit.edu	37	6	152651534	152651534	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:152651534C>T	ENST00000367255.5	-	78	14887	c.14286G>A	c.(14284-14286)ctG>ctA	p.L4762L	SYNE1_ENST00000265368.4_Silent_p.L4762L|SYNE1_ENST00000423061.1_Silent_p.L4691L|SYNE1_ENST00000341594.5_Silent_p.L4509L|SYNE1_ENST00000448038.1_Silent_p.L4691L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4762					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)		TTTGTCGCTTCAGCCTGTGAT	0.483000										HNSCC(10;0.0054)			4	61					0	0	0.150653	0	0
NLRP4	147945	broad.mit.edu	37	19	56382323	56382323	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:56382323G>A	ENST00000301295.6	+	7	2907	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E773K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E754K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	829							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AACTCTCTGCGAGGCCTTGAA	0.498000													9	86					0	0	0.411799	0	0
PEX1	5189	broad.mit.edu	37	7	92147127	92147127	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:92147127C>T	ENST00000248633.4	-	5	797	c.702G>A	c.(700-702)gaG>gaA	p.E234E	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.E234E	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	234					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAACTGGAATCTCTGACTCGT	0.373000													3	23					0	0	0.115264	0	0
CIT	11113	broad.mit.edu	37	12	120220372	120220372	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:120220372G>A	ENST00000392521.2	-	13	1670	c.1615C>T	c.(1615-1617)Ctc>Ttc	p.L539F	CIT_ENST00000261833.7_Missense_Mutation_p.L539F|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	539					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATATCATGGAGAAGCTGCAGT	0.512000													7	64					0	0	0.307466	0	0
SOX18	54345	broad.mit.edu	37	20	62680557	62680557	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr20:62680557G>C	ENST00000340356.7	-	1	437	c.313C>G	c.(313-315)Cag>Gag	p.Q105E		NM_018419.2	NP_060889.1	P35713	SOX18_HUMAN	SRY (sex determining region Y)-box 18	105					angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGGTTCTGCTGAGCCAGCCGC	0.726000													13	148					0	0	0.539581	0	0
PET112	5188	broad.mit.edu	37	4	152682052	152682052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:152682052C>T	ENST00000263985.6	-	1	123	c.83G>A	c.(82-84)aGa>aAa	p.R28K	PET112_ENST00000508611.1_Missense_Mutation_p.R28K|PET112_ENST00000512306.1_Missense_Mutation_p.R28K|PET112_ENST00000515812.1_Missense_Mutation_p.R28K	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	28						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGGAGCCCCTCTTCGGTGGCA	0.622000													8	69					0	0	0.335167	0	0
UBAP2	55833	broad.mit.edu	37	9	33948389	33948389	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:33948389G>T	ENST00000379238.1	-	13	1370	c.1253C>A	c.(1252-1254)tCa>tAa	p.S418*	UBAP2_ENST00000360802.1_Nonsense_Mutation_p.S418*|UBAP2_ENST00000449054.1_Nonsense_Mutation_p.S418*|UBAP2_ENST00000379239.4_Nonsense_Mutation_p.S151*|UBAP2_ENST00000418786.2_Nonsense_Mutation_p.S365*|UBAP2_ENST00000379225.1_Nonsense_Mutation_p.S51*|UBAP2_ENST00000539807.1_Nonsense_Mutation_p.S173*			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	418										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGAGGACTGAGGACTGGGA	0.483000													9	139					4.68919e-08	4.92966e-08	0.361761	1	0
TMC6	11322	broad.mit.edu	37	17	76113906	76113906	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:76113906G>C	ENST00000590602.1	-	16	2157	c.1998C>G	c.(1996-1998)gtC>gtG	p.V666V	TMC6_ENST00000322933.4_Silent_p.V245V|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000591436.1_Silent_p.V245V|TMC6_ENST00000322914.3_Silent_p.V666V|TMC6_ENST00000392467.3_Silent_p.V666V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	666						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCAGAGGAAGACAGCGGCGC	0.687000													5	27					0	0	0.278610	0	0
PFKFB1	5207	broad.mit.edu	37	X	54975561	54975561	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:54975561C>T	ENST00000375006.3	-	9	1010	c.940G>A	c.(940-942)Gag>Aag	p.E314K	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E249K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	314	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCCAGGGCCTCAGCTGTCTGG	0.557000													15	46					0	0	0.520397	0	0
PYGL	5836	broad.mit.edu	37	14	51411041	51411041	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:51411041C>G	ENST00000216392.7	-	1	413	c.81G>C	c.(79-81)gaG>gaC	p.E27D	PYGL_ENST00000544180.2_Missense_Mutation_p.E27D|PYGL_ENST00000532462.1_Missense_Mutation_p.E27D	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	27					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCTTCTTCAGCTCTGCCACGT	0.667000													10	78					0	0	0.411799	0	0
ZNF264	9422	broad.mit.edu	37	19	57723168	57723168	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:57723168G>C	ENST00000263095.6	+	4	1117	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.E235Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGAATGCACAGAATGTGGGAA	0.428000													9	77					0	0	0.361761	0	0
JUND	3727	broad.mit.edu	37	19	18391519	18391519	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:18391519G>C	ENST00000252818.3	-	1	913	c.776C>G	c.(775-777)tCg>tGg	p.S259W		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	259					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						GTCGATGGGCGACAACGGCGG	0.721000													6	38					0	0	0.479597	0	0
UAP1	6675	broad.mit.edu	37	1	162535885	162535885	+	Silent	SNP	G	G	A	rs151151506		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:162535885G>A	ENST00000271469.3	+	2	329	c.27G>A	c.(25-27)acG>acA	p.T9T	UAP1_ENST00000367925.1_Silent_p.T9T|UAP1_ENST00000367926.4_Silent_p.T9T|UAP1_ENST00000367924.1_Silent_p.T9T			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	9					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAAACTCACGTTGTCCAAAG	0.413000													10	90					0	0	0.457914	0	0
PDZD8	118987	broad.mit.edu	37	10	119044035	119044035	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:119044035C>T	ENST00000334464.5	-	5	2448	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	737					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GCCACATCTTCAAGTTTTAAA	0.453000													9	30					0	0	0.307466	0	0
DOT1L	84444	broad.mit.edu	37	19	2222186	2222186	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:2222186C>G	ENST00000398665.3	+	24	3054	c.3018C>G	c.(3016-3018)ctC>ctG	p.L1006L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1006						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACCAGCTCTCCTCCAGTC	0.697000													19	125					0	0	0.624587	0	0
T	6862	broad.mit.edu	37	6	166580899	166580899	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:166580899C>G	ENST00000296946.2	-	2	649	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	T_ENST00000366871.3_Missense_Mutation_p.E61Q	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	61					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		ACGATCATCTCATTGGTGAGC	0.701000									Chordoma, Familial Clustering of				8	77					0	0	0.387290	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624735	6624735	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:6624735C>A	ENST00000396706.2	+	7	1028	c.585C>A	c.(583-585)ctC>ctA	p.L195L	ZDHHC4_ENST00000396707.2_Silent_p.L195L|ZDHHC4_ENST00000396709.1_Silent_p.L195L|ZDHHC4_ENST00000405731.3_Silent_p.L195L|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000335965.6_Silent_p.L195L|ZDHHC4_ENST00000396713.2_Silent_p.L195L			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	195						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GGTACTTCCTCATCTACGTCT	0.527000													20	81					2.44723e-14	2.61676e-14	0.681144	1	0
CNNM2	54805	broad.mit.edu	37	10	104678579	104678579	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:104678579G>A	ENST00000369878.4	+	1	530	c.342G>A	c.(340-342)acG>acA	p.T114T	CNNM2_ENST00000369875.3_Silent_p.T114T|CNNM2_ENST00000433628.2_Silent_p.T114T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2						ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATAACGAGACGTGGTCCCGCA	0.721000													10	32					0	0	0.435327	0	0
SPATA6	54558	broad.mit.edu	37	1	48918750	48918750	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:48918750G>A	ENST00000371847.3	-	2	269	c.105C>T	c.(103-105)atC>atT	p.I35I	SPATA6_ENST00000371843.3_Silent_p.I35I|SPATA6_ENST00000396199.3_5'UTR|SPATA6_ENST00000463938.1_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	35					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CAAACACACAGATGCTAAGAT	0.393000													8	64					0	0	0.387290	0	0
KCNH3	23416	broad.mit.edu	37	12	49935417	49935417	+	Silent	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:49935417C>A	ENST00000257981.6	+	3	575	c.315C>A	c.(313-315)ctC>ctA	p.L105L	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	105	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCCCAGGGCTCCCGTTCTGGT	0.547000													16	151					2.35188e-11	2.50054e-11	0.539581	1	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													3	56					0	0	0.184627	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565223	156565223	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:156565223C>T	ENST00000368232.4	-	8	1027	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	GPATCH4_ENST00000438976.2_Missense_Mutation_p.E304K	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	299						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTCCTCTTCATGGTGCCAC	0.542000													29	196					0	0	0.750413	0	0
COL11A2	1302	broad.mit.edu	37	6	33154363	33154363	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:33154363C>G	ENST00000395194.1	-	5	1052	c.839G>C	c.(838-840)aGa>aCa	p.R280T	COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000341947.2_Intron|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000357486.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000374714.1_Intron	NM_001163771.1	NP_001157243.1	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1216	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCTTCCCTCTCTGGGGTGTGC	0.572000													7	33					0	0	0.248553	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753992	140753992	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:140753992G>A	ENST00000517434.1	+	1	342	c.342G>A	c.(340-342)ctG>ctA	p.L114L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATAAACTGAATCTTTATC	0.483000													16	70					0	0	0.575678	0	0
TFAP2B	7021	broad.mit.edu	37	6	50805697	50805697	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:50805697G>A	ENST00000263046.4	+	6	1024	c.858G>A	c.(856-858)tcG>tcA	p.S286S	TFAP2B_ENST00000393655.3_Silent_p.S277S			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	277					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAGCCAAATCGAAAAATGGGG	0.433000													7	85					0	0	0.278610	0	0
PAF1	54623	broad.mit.edu	37	19	39879228	39879228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:39879228C>T	ENST00000221265.3	-	10	1159	c.829G>A	c.(829-831)Gag>Aag	p.E277K	PAF1_ENST00000221266.7_Missense_Mutation_p.E244K|PAF1_ENST00000595564.1_Missense_Mutation_p.E267K	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	277					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCATCTCCTCCTCCTGGTCC	0.522000													29	94					0	0	0.729181	0	0
DNAAF2	55172	broad.mit.edu	37	14	50100987	50100987	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:50100987G>A	ENST00000298292.8	-	1	961	c.881C>T	c.(880-882)tCg>tTg	p.S294L	DNAAF2_ENST00000406043.3_Missense_Mutation_p.S294L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	294					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						CTGCTCGGCCGAGCGCAACAG	0.657000													12	64					0	0	0.539581	0	0
DMBX1	127343	broad.mit.edu	37	1	46972824	46972824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:46972824G>A	ENST00000371956.4	+	1	157	c.142G>A	c.(142-144)Gag>Aag	p.E48K	DMBX1_ENST00000360032.3_Missense_Mutation_p.E48K	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	48	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TACATTGGCTGAGCGCCTGGC	0.637000													10	40					0	0	0.361761	0	0
ARNTL2	56938	broad.mit.edu	37	12	27523108	27523108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:27523108C>T	ENST00000266503.5	+	3	247	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	ARNTL2_ENST00000261178.5_Intron|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P77S|ARNTL2_ENST00000542388.1_Intron|ARNTL2_ENST00000395901.2_Intron|ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000546179.1_Intron|ARNTL2_ENST00000544915.1_Intron			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	77					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTCTCAGAATCCCCTTACCTA	0.483000													14	91					0	0	0.557998	0	0
LRRC8E	80131	broad.mit.edu	37	19	7960596	7960596	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:7960596C>G	ENST00000306708.6	+	2	209	c.108C>G	c.(106-108)ctC>ctG	p.L36L		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	36						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGGCCATGCTCATGATTGGGG	0.642000													14	117					0	0	0.500413	0	0
GPR89B	51463	broad.mit.edu	37	1	147400652	147400652	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:147400652G>C	ENST00000314163.7	+	1	147	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_016334.3	NP_057418.1	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89B	1					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			large_intestine(1)	1	all_hematologic(923;0.0276)					ACTTCGCCATGAGTTTCCTGA	0.647000													11	121					0	0	0.411799	0	0
COPB1	1315	broad.mit.edu	37	11	14487843	14487843	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:14487843C>G	ENST00000249923.3	-	17	2575	c.2275G>C	c.(2275-2277)Gaa>Caa	p.E759Q	COPB1_ENST00000439561.2_Missense_Mutation_p.E759Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	759					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTAGCTAGTTCTAATGTGCAA	0.383000													22	96					0	0	0.681144	0	0
CCNE2	9134	broad.mit.edu	37	8	95893987	95893987	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:95893987G>A	ENST00000396133.3	-	12	1215	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	CCNE2_ENST00000520509.1_Intron|CCNE2_ENST00000308108.4_Intron			O96020	CCNE2_HUMAN	cyclin E2	0					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TACATGGGAAGAAATCATGCA	0.378000													10	88					0	0	0.335167	0	0
IRF6	3664	broad.mit.edu	37	1	209968639	209968639	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:209968639G>A	ENST00000367021.3	-	5	676	c.504C>T	c.(502-504)atC>atT	p.I168I	IRF6_ENST00000542854.1_Silent_p.I73I	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	168					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ACTCACCATTGATGTTCAGGA	0.488000										HNSCC(57;0.16)			40	141					0	0	0.870114	0	0
CTGF	1490	broad.mit.edu	37	6	132271489	132271489	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:132271489C>T	ENST00000367976.3	-	3	684	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	162	VWFC.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		ACCCACTCCTCGCAGCATTTC	0.652000											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	213					0	0	0.812448	0	0
HIP1	3092	broad.mit.edu	37	7	75172291	75172291	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:75172291C>T	ENST00000336926.6	-	28	2795	c.2769G>A	c.(2767-2769)gtG>gtA	p.V923V	HIP1_ENST00000434438.2_Silent_p.V872V	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	923	I/LWEQ.|Important for actin binding (By similarity).				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TATCAGCTTTCACCTACCAGG	0.522000			T	PDGFRB	CMML								10	79					0	0	0.457914	0	0
ECM1	1893	broad.mit.edu	37	1	150483939	150483939	+	Missense_Mutation	SNP	G	G	A	rs149230481		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:150483939G>A	ENST00000369047.4	+	7	840	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	ECM1_ENST00000369049.4_Missense_Mutation_p.E266K|ECM1_ENST00000346569.6_Intron|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	239	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTAGTGGGAGGAAGCAATGAG	0.597000													23	219					0	0	0.693898	0	0
UMPS	7372	broad.mit.edu	37	3	124456864	124456864	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124456864C>T	ENST00000232607.2	+	3	866	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	UMPS_ENST00000413078.2_Silent_p.L76L|UMPS_ENST00000538242.1_Silent_p.L76L|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000536109.1_Silent_p.L162L	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	254	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		GGAGACCAATCTGTGTCTATC	0.488000													9	74					0	0	0.411799	0	0
GDI2	2665	broad.mit.edu	37	10	5810189	5810189	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:5810189G>C	ENST00000380191.4	-	8	1268	c.978C>G	c.(976-978)gtC>gtG	p.V326V	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Silent_p.V330V|GDI2_ENST00000380181.3_Silent_p.V281V	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	326					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ACTTTCGATTGACTTGGTTCT	0.408000													17	89					0	0	0.608945	0	0
OXLD1	339229	broad.mit.edu	37	17	79632293	79632293	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:79632293C>G	ENST00000374741.3	-	2	392	c.382G>C	c.(382-384)Gat>Cat	p.D128H	OXLD1_ENST00000573786.1_5'UTR|OXLD1_ENST00000571503.1_3'UTR	NM_001039842.1	NP_001034931.1			oxidoreductase-like domain containing 1																		AGGTTCTCATCAGCCACGTGC	0.667000													8	93					0	0	0.307466	0	0
POP1	10940	broad.mit.edu	37	8	99170408	99170408	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:99170408C>T	ENST00000401707.2	+	16	3065	c.2984C>T	c.(2983-2985)tCc>tTc	p.S995F	POP1_ENST00000349693.3_Missense_Mutation_p.S995F	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	995					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GATATGCTGTCCAGCCAGCCT	0.547000													20	167					0	0	0.557998	0	0
SLC6A8	6535	broad.mit.edu	37	X	152958597	152958597	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:152958597C>G	ENST00000253122.5	+	5	1355	c.879C>G	c.(877-879)ctC>ctG	p.L293L	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.L178L	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	293					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TTTACTATCTCAAGCCTGACT	0.632000													5	9					0	0	0.184627	0	0
UMPS	7372	broad.mit.edu	37	3	124456651	124456651	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:124456651C>T	ENST00000232607.2	+	3	653	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	UMPS_ENST00000413078.2_Missense_Mutation_p.L5F|UMPS_ENST00000538242.1_Missense_Mutation_p.L5F|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000536109.1_Missense_Mutation_p.L91F	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	183	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		GCTGGAGATTCTCGAGCAGCA	0.498000													7	33					0	0	0.335167	0	0
MBD1	4152	broad.mit.edu	37	18	47799277	47799277	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr18:47799277C>G	ENST00000591416.1	-	14	2064	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q	MBD1_ENST00000591535.1_Missense_Mutation_p.E476Q|MBD1_ENST00000398495.2_Missense_Mutation_p.E514Q|MBD1_ENST00000424334.2_Missense_Mutation_p.E596Q|MBD1_ENST00000436910.1_Missense_Mutation_p.E476Q|MBD1_ENST00000585595.1_Missense_Mutation_p.E570Q|MBD1_ENST00000349085.2_Missense_Mutation_p.E443Q|MBD1_ENST00000398493.1_Missense_Mutation_p.E489Q|MBD1_ENST00000353909.3_Missense_Mutation_p.E496Q|MBD1_ENST00000590208.1_Missense_Mutation_p.E545Q|MBD1_ENST00000587605.1_Missense_Mutation_p.E443Q|MBD1_ENST00000382948.5_Missense_Mutation_p.E545Q|MBD1_ENST00000585672.1_Missense_Mutation_p.E495Q|MBD1_ENST00000347968.3_Missense_Mutation_p.E489Q|MBD1_ENST00000269468.5_Missense_Mutation_p.E545Q|MBD1_ENST00000588937.1_Missense_Mutation_p.E476Q|MBD1_ENST00000457839.2_Missense_Mutation_p.E570Q|MBD1_ENST00000339998.6_Missense_Mutation_p.E499Q|MBD1_ENST00000398488.1_Missense_Mutation_p.E443Q|MBD1_ENST00000269471.5_Missense_Mutation_p.E476Q			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	545	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TTGTCCTCCTCTGGGTCAGGT	0.582000													29	127					0	0	0.750413	0	0
AHCYL1	10768	broad.mit.edu	37	1	110555027	110555027	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:110555027G>A	ENST00000369799.5	+	4	787	c.420G>A	c.(418-420)gaG>gaA	p.E140E	AHCYL1_ENST00000393614.4_Silent_p.E93E|AHCYL1_ENST00000359172.3_Silent_p.E93E|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	140					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTCAGGGGGAGAAGCCCTTGG	0.493000													9	76					0	0	0.411799	0	0
ECT2L	345930	broad.mit.edu	37	6	139186275	139186275	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:139186275C>T	ENST00000423192.1	+	11	1595	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ECT2L_ENST00000367682.2_Silent_p.F478F|ECT2L_ENST00000541398.1_Silent_p.F409F|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	478					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGTATCCTTTCTTCAAGGAAC	0.443000			"""N, Splice, Mis"""		ETP ALL								3	38					0	0	0.184627	0	0
MS4A1	931	broad.mit.edu	37	11	60233575	60233575	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:60233575C>T	ENST00000534668.1	+	5	807	c.518C>T	c.(517-519)tCt>tTt	p.S173F	MS4A1_ENST00000389939.2_Missense_Mutation_p.S173F|MS4A1_ENST00000532073.1_Missense_Mutation_p.S173F|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Missense_Mutation_p.S173F	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	173	Epitope 3 (recognized by antibodies, including Rituximab).				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GCTAATCCCTCTGAGAAAAAC	0.358000													29	72					0	0	0.740014	0	0
SMARCD1	6602	broad.mit.edu	37	12	50490678	50490678	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:50490678G>A	ENST00000394963.4	+	11	1713	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	SMARCD1_ENST00000548573.1_Missense_Mutation_p.E237K|SMARCD1_ENST00000381513.4_Intron	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	439	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GACTCAGCGGGAGTTCATGCT	0.458000													7	33					0	0	0.335167	0	0
SLC6A17	388662	broad.mit.edu	37	1	110716657	110716657	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:110716657C>G	ENST00000331565.4	+	4	992	c.507C>G	c.(505-507)ttC>ttG	p.F169L		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	169					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCTATTTCTTCAAGTCCTTCC	0.577000													27	165					0	0	0.717897	0	0
RBMS1	5937	broad.mit.edu	37	2	161141534	161141534	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:161141534C>T	ENST00000348849.3	-	8	1208	c.778G>A	c.(778-780)Gac>Aac	p.D260N	RBMS1_ENST00000409972.1_Missense_Mutation_p.D224N|RBMS1_ENST00000392753.3_Missense_Mutation_p.D257N|RBMS1_ENST00000409075.1_Missense_Mutation_p.D224N|RBMS1_ENST00000409289.2_Missense_Mutation_p.D224N|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	260					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								GTAGTTGGGTCGTAAGTAAGT	0.368000													9	57					0	0	0.387290	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008204	32008204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32008204G>A	ENST00000418967.2	+	8	1119	c.961G>A	c.(961-963)Gag>Aag	p.E321K	CYP21A2_ENST00000435122.2_Missense_Mutation_p.E291K	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	320					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						ACTGCAGGAGGAGCTAGACCA	0.662000													7	43					0	0	0.307466	0	0
RNF111	54778	broad.mit.edu	37	15	59358969	59358969	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:59358969C>G	ENST00000348370.4	+	6	1806	c.1373C>G	c.(1372-1374)tCa>tGa	p.S458*	RNF111_ENST00000559209.1_Nonsense_Mutation_p.S458*|RNF111_ENST00000557998.1_Nonsense_Mutation_p.S458*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.S458*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.S458*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	458	Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CAAGATGACTCAAGGAGAACT	0.398000													23	38					0	0	0.717897	0	0
DPP10	57628	broad.mit.edu	37	2	116447417	116447417	+	Splice_Site	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:116447417G>T	ENST00000410059.1	+	7	976	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	DPP10_ENST00000409163.1_Splice_Site_p.E116*|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Splice_Site_p.E170*|DPP10_ENST00000310323.8_Splice_Site_p.E159*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	166					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTTTCAAGGGAAGTTTGGGA	0.413000													5	26					0.0293803	0.029766	0.248553	1	0
DNAJC13	23317	broad.mit.edu	37	3	132215491	132215491	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:132215491C>T	ENST00000260818.6	+	36	4388	c.4140C>T	c.(4138-4140)ttC>ttT	p.F1380F		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1380							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						GCATCCTCTTCAACCGTCATA	0.338000													5	27					0	0	0.217242	0	0
ACE2	59272	broad.mit.edu	37	X	15605900	15605900	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:15605900C>A	ENST00000427411.1	-	7	994	c.778G>T	c.(778-780)Gga>Tga	p.G260*	ACE2_ENST00000252519.3_Nonsense_Mutation_p.G260*	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	260					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GGGAGGCATCCAATTGGACTG	0.398000													8	63					0.0477658	0.0482809	0.307466	1	0
RASA4CP	401331	broad.mit.edu	37	7	44073803	44073803	+	RNA	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr7:44073803C>G	ENST00000446874.1	-	0	309																											GGCAGCAGCTCCACTTGTCCC	0.602000													4	29					0	0	0.150653	0	0
CR1	1378	broad.mit.edu	37	1	207679266	207679266	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:207679266G>A	ENST00000367049.4	+	2	139	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	CR1_ENST00000367051.1_Missense_Mutation_p.E47K|CR1_ENST00000400960.2_Missense_Mutation_p.E47K|CR1_ENST00000367052.1_Missense_Mutation_p.E47K|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Missense_Mutation_p.E47K	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	47	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAATGCCCCAGAATGGCTTCC	0.428000													15	58					0	0	0.539581	0	0
ZZEF1	23140	broad.mit.edu	37	17	3936223	3936223	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:3936223C>T	ENST00000381638.2	-	41	6782	c.6658G>A	c.(6658-6660)Gat>Aat	p.D2220N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2220							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCAATGACATCACGCCACAGT	0.597000													8	35					0	0	0.278610	0	0
CAPN3	825	broad.mit.edu	37	15	42691775	42691775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr15:42691775C>T	ENST00000397163.3	+	10	1498	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	CAPN3_ENST00000356316.3_Nonsense_Mutation_p.Q340*|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Nonsense_Mutation_p.Q379*|CAPN3_ENST00000357568.3_Nonsense_Mutation_p.Q427*|CAPN3_ENST00000318023.7_Nonsense_Mutation_p.Q427*	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	427	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGACAAGCTTCAGACCTGGAC	0.562000													6	27					0	0	0.217242	0	0
SRRM2	23524	broad.mit.edu	37	16	2814751	2814751	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:2814751G>C	ENST00000301740.8	+	11	4771	c.4222G>C	c.(4222-4224)Gat>Cat	p.D1408H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1408	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACCTGTGCTTGATGCTGTACC	0.473000													39	226					0	0	0.853193	0	0
SNX29	92017	broad.mit.edu	37	16	12145758	12145758	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr16:12145758C>T	ENST00000566228.1	+	8	872	c.803C>T	c.(802-804)tCa>tTa	p.S268L		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AACATAATCTCATTTGATGAT	0.433000													8	45					0	0	0.387290	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407501	55407501	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr5:55407501C>T	ENST00000341048.4	-	10	1225	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	ANKRD55_ENST00000504958.2_Silent_p.Q315Q|ANKRD55_ENST00000434982.2_Silent_p.Q70Q|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	357										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GATGGGCTCTCTGCTCTTCTT	0.522000													13	130					0	0	0.457914	0	0
ASTN1	460	broad.mit.edu	37	1	176833599	176833599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:176833599G>A	ENST00000367654.3	-	23	3941	c.3730C>T	c.(3730-3732)Ctt>Ttt	p.L1244F	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Missense_Mutation_p.L1236F	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTCCTGAAGGAGTCCATTG	0.532000													7	60					0	0	0.278610	0	0
VWCE	220001	broad.mit.edu	37	11	61026481	61026481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr11:61026481G>A	ENST00000335613.5	-	20	2920	c.2534C>T	c.(2533-2535)tCa>tTa	p.S845L	VWCE_ENST00000535710.1_Missense_Mutation_p.S310L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	845	Pro-rich.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGGCCCTGGTGAGAGTCGAGG	0.642000													10	32					0	0	0.387290	0	0
TSC22D1	8848	broad.mit.edu	37	13	45148962	45148962	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:45148962C>G	ENST00000458659.2	-	1	1739	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	TSC22D1_ENST00000501704.2_Missense_Mutation_p.E417Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	417					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TTAAAGGGCTCAGAACTAGAA	0.438000													13	67					0	0	0.457914	0	0
FANCG	2189	broad.mit.edu	37	9	35077090	35077090	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr9:35077090C>G	ENST00000378643.3	-	6	1146	c.655G>C	c.(655-657)Gag>Cag	p.E219Q		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	219					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGATCAGCTCCTGGAGACCT	0.567000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					15	67					0	0	0.539581	0	0
SEMA3F	6405	broad.mit.edu	37	3	50214234	50214234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:50214234G>A	ENST00000002829.3	+	7	1067	c.583G>A	c.(583-585)Gag>Aag	p.E195K	SEMA3F_ENST00000434342.1_Missense_Mutation_p.E164K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E96K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	195	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGAGCGACTCGAGTCAGGGAA	0.597000													19	263					0	0	0.681144	0	0
XPO1	7514	broad.mit.edu	37	2	61721193	61721193	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:61721193C>T	ENST00000401558.2	-	12	1808	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	XPO1_ENST00000406957.1_Missense_Mutation_p.E361K|XPO1_ENST00000404992.2_Missense_Mutation_p.E361K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	361	Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCAGTTTCTTCTACTTCAGAT	0.348000			Mis		CLL								4	36					0	0	0.184627	0	0
AGER	177	broad.mit.edu	37	6	32150064	32150064	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:32150064G>A	ENST00000375076.4	-	8	1025	c.924C>T	c.(922-924)caC>caT	p.H308H	AGER_ENST00000375055.2_Silent_p.H308H|RNF5_ENST00000427134.2_Intron|AGER_ENST00000438221.2_Silent_p.H324H|AGER_ENST00000375070.3_Silent_p.H339H|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375069.3_Silent_p.H207H|AGER_ENST00000375067.3_Intron	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	308	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CCTGGGGCCCGTGGCTGGAAT	0.637000													65	98					0	0	0.870114	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354706	42354706	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:42354706T>C	ENST00000269945.3	+	8	980	c.929T>C	c.(928-930)gTg>gCg	p.V310A	DMRTC2_ENST00000596827.1_Missense_Mutation_p.V361A	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	310	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GCTCCTCGTGTGACCCCTTCT	0.632000													21	74					0	0	0.667858	0	0
SCN8A	6334	broad.mit.edu	37	12	52164398	52164398	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:52164398C>A	ENST00000354534.6	+	19	3754	c.3576C>A	c.(3574-3576)ttC>ttA	p.F1192L	SCN8A_ENST00000545061.1_Missense_Mutation_p.F1192L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAACCTGCTTCCTCATCGTGG	0.567000													12	44					0.11911	0.120117	0.457914	1	0
KRT80	144501	broad.mit.edu	37	12	52565325	52565325	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr12:52565325G>A	ENST00000313234.5	-	9	1348	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	KRT80_ENST00000394815.2_Intron	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	0	Tail.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		AACATAAGGGGTAGGGGAGGG	0.562000													9	31					0	0	0.335167	0	0
ACACA	31	broad.mit.edu	37	17	35615184	35615184	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:35615184G>A	ENST00000353139.5	-	13	2093	c.1612C>T	c.(1612-1614)Cca>Tca	p.P538S	ACACA_ENST00000360679.3_Missense_Mutation_p.P443S|ACACA_ENST00000394406.2_Missense_Mutation_p.P501S|ACACA_ENST00000335166.5_Missense_Mutation_p.P423S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	501	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGCCCCTTGGACAAGGAACG	0.408000													7	55					0	0	0.335167	0	0
FAM50A	9130	broad.mit.edu	37	X	153674218	153674218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrX:153674218G>C	ENST00000393600.3	+	3	365	c.255G>C	c.(253-255)gaG>gaC	p.E85D		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	85					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	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)					AGGAGCGGGAGAAGCAGCTGG	0.607000													9	25					0	0	0.387290	0	0
HEATR4	399671	broad.mit.edu	37	14	73959826	73959826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr14:73959826C>T	ENST00000553558.1	-	17	3109	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	HEATR4_ENST00000334988.2_Missense_Mutation_p.E930K|HEATR4_ENST00000560393.1_Missense_Mutation_p.E883K|C14orf169_ENST00000531973.1_RNA	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGAACCATCTCATCTAGGTAC	0.433000													4	52					0	0	0.184627	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446801	169446801	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:169446801G>A	ENST00000236137.5	-	2	635	c.399C>T	c.(397-399)atC>atT	p.I133I	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	133					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					TGGCTGTGGCGATGCCATAAA	0.453000													10	94					0	0	0.387290	0	0
ABCA4	24	broad.mit.edu	37	1	94568588	94568588	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:94568588G>C	ENST00000370225.3	-	5	639	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E	ABCA4_ENST00000535735.1_Missense_Mutation_p.Q185E	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	185					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGACGGACTTGAGAGTTGATC	0.473000													29	200					0	0	0.779181	0	0
ASPH	444	broad.mit.edu	37	8	62438579	62438579	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:62438579C>T	ENST00000541428.1	-	22	1930	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	ASPH_ENST00000379454.4_Silent_p.L619L	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	619					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTTTTTCCCTCAGGTTTTCAT	0.493000													7	55					0	0	0.307466	0	0
FAM65B	9750	broad.mit.edu	37	6	24865637	24865637	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:24865637G>C	ENST00000259698.4	-	7	631	c.456C>G	c.(454-456)ctC>ctG	p.L152L	FAM65B_ENST00000538035.1_Silent_p.L181L|FAM65B_ENST00000540914.1_Silent_p.L152L|FAM65B_ENST00000378023.4_Silent_p.L152L|FAM65B_ENST00000510784.2_Silent_p.L186L	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	152					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CACCATCCTGGAGGCGTCGCT	0.468000													5	55					0	0	0.184627	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846450	72846450	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:72846450G>C	ENST00000293190.5	-	6	1532	c.1386C>G	c.(1384-1386)ctC>ctG	p.L462L	GRIN2C_ENST00000347612.4_Silent_p.L462L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	462					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCAGCTTCTTGAGGATGTCGA	0.592000													30	305					0	0	0.788014	0	0
PTCH2	8643	broad.mit.edu	37	1	45293690	45293690	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:45293690G>A	ENST00000447098.2	-	14	1894	c.1883C>T	c.(1882-1884)tCt>tTt	p.S628F	PTCH2_ENST00000372192.3_Missense_Mutation_p.S628F	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	628					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAGTGGGTCAGAAGGTGGGGG	0.622000									Basal Cell Nevus syndrome				20	105					0	0	0.624587	0	0
GTF3C3	9330	broad.mit.edu	37	2	197664281	197664281	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:197664281C>G	ENST00000263956.3	-	1	144	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	GTF3C3_ENST00000409364.3_Missense_Mutation_p.E19Q	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	19						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCGAACTCCTCAAAGGAGATT	0.527000													13	91					0	0	0.608945	0	0
SBNO2	22904	broad.mit.edu	37	19	1123979	1123979	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:1123979G>A	ENST00000361757.3	-	6	721	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	SBNO2_ENST00000587024.1_Silent_p.L162L|SBNO2_ENST00000438103.2_Silent_p.L105L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	162					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGAGGGCAGAAAGTCCTCG	0.657000													6	58					0	0	0.307466	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242743447	242743447	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:242743447C>T	ENST00000192314.6	+	4	1194	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	355					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTACAACCTCCGGCCGGGCCT	0.667000													5	11					0	0	0.278610	0	0
NDUFV3	4731	broad.mit.edu	37	21	44329053	44329053	+	Silent	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:44329053C>G	ENST00000340344.4	+	3	315	c.249C>G	c.(247-249)acC>acG	p.T83T	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Silent_p.T448T	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	GCACGTACACCTTCTTAGACC	0.557000													28	360					0	0	0.740014	0	0
ANKRD27	84079	broad.mit.edu	37	19	33135288	33135288	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:33135288G>A	ENST00000306065.4	-	5	626	c.468C>T	c.(466-468)atC>atT	p.I156I	ANKRD27_ENST00000587352.1_Silent_p.I156I	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	156					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGAAAGAGGCGATGTTCCTGT	0.532000													74	281					0	0	0.870114	0	0
EHMT2	10919	broad.mit.edu	37	6	31856205	31856205	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:31856205C>T	ENST00000395728.3	-	11	1614	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	EHMT2_ENST00000375537.4_Missense_Mutation_p.E482K|EHMT2_ENST00000375528.4_Missense_Mutation_p.E505K|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.E448K			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	482					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGGTGGGTCTCACAGAGCACC	0.652000													8	64					0	0	0.335167	0	0
APOL4	80832	broad.mit.edu	37	22	36587672	36587672	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:36587672C>T	ENST00000332987.1	-	7	917	c.495G>A	c.(493-495)ctG>ctA	p.L165L	APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000352371.1_Silent_p.L168L|APOL4_ENST00000405511.1_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	169					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CAGTAATGCTCAGGCTCAGCC	0.562000													5	16					0	0	0.184627	0	0
RRP1B	23076	broad.mit.edu	37	21	45096216	45096216	+	Splice_Site	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr21:45096216G>T	ENST00000340648.4	+	7	730	c.613G>T	c.(613-615)Gac>Tac	p.D205Y		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	205					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GAAGACGAAGGAGTAAGTGAT	0.473000													12	121					1.67942e-08	1.76979e-08	0.539581	1	0
HES1	3280	broad.mit.edu	37	3	193855682	193855682	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:193855682C>T	ENST00000232424.3	+	4	739	c.503C>T	c.(502-504)cCg>cTg	p.P168L		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	168	Pro-rich.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GCGCCGCCACCGCCCCCACCG	0.791000													7	106					0	0	0.435327	0	0
FGR	2268	broad.mit.edu	37	1	27950379	27950379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:27950379C>A	ENST00000374005.3	-	3	337	c.49G>T	c.(49-51)Gag>Tag	p.E17*	FGR_ENST00000468038.1_5'UTR|FGR_ENST00000399173.1_Nonsense_Mutation_p.E17*|FGR_ENST00000545953.1_Nonsense_Mutation_p.E17*|FGR_ENST00000374004.1_Nonsense_Mutation_p.E17*	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	17					platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGCATCCTCCTTGGCCGTG	0.602000													13	72					0.000308642	0.000316605	0.479597	1	0
DSPP	1834	broad.mit.edu	37	4	88534227	88534227	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr4:88534227C>G	ENST00000399271.1	+	4	1009	c.889C>G	c.(889-891)Caa>Gaa	p.Q297E	DSPP_ENST00000282478.7_Missense_Mutation_p.Q297E|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	297					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TAGCATAGGTCAAAATTCAGA	0.428000													6	30					0	0	0.278610	0	0
TLE2	7089	broad.mit.edu	37	19	3019709	3019709	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:3019709G>C	ENST00000262953.6	-	6	619	c.357C>G	c.(355-357)aaC>aaG	p.N119K	TLE2_ENST00000590536.1_Missense_Mutation_p.N119K|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000591529.1_Missense_Mutation_p.N132K|TLE2_ENST00000443826.3_Missense_Mutation_p.N64K|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000455444.2_Missense_Mutation_p.N64K|TLE2_ENST00000586422.1_Missense_Mutation_p.N64K|TLE2_ENST00000426948.2_Missense_Mutation_p.N132K	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	119	Gln-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGATGAGGCTGTTCAGCTCCC	0.647000													9	43					0	0	0.335167	0	0
ADAM30	11085	broad.mit.edu	37	1	120438390	120438390	+	Silent	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:120438390C>T	ENST00000369400.1	-	1	728	c.570G>A	c.(568-570)gcG>gcA	p.A190A		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	190					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCCTTAGCCTCGCCTTATTCT	0.408000													5	74					0	0	0.217242	0	0
PARP10	84875	broad.mit.edu	37	8	145057596	145057596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr8:145057596C>T	ENST00000313028.7	-	8	2255	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K	PARP10_ENST00000525773.1_Missense_Mutation_p.E733K|PARP10_ENST00000524918.1_Missense_Mutation_p.E712K	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	721	Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGTCCAGCTCCTCCACATCC	0.692000													6	38					0	0	0.361761	0	0
GRM4	2914	broad.mit.edu	37	6	34101145	34101145	+	Silent	SNP	G	G	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:34101145G>A	ENST00000538487.2	-	2	572	c.129C>T	c.(127-129)atC>atT	p.I43I	GRM4_ENST00000374181.4_Silent_p.I43I|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CATCTATGCGGATGGAATTCA	0.617000													5	86					0	0	0.307466	0	0
HTR6	3362	broad.mit.edu	37	1	20005075	20005075	+	Missense_Mutation	SNP	C	C	A	rs61751019		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:20005075C>A	ENST00000289753.1	+	2	1197	c.730C>A	c.(730-732)Cgc>Agc	p.R244S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	244					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		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;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CAGGACCCCACGCCCAGGGGT	0.622000													17	126					6.21321e-17	6.68175e-17	0.639603	1	0
CALHM2	51063	broad.mit.edu	37	10	105207266	105207266	+	Silent	SNP	G	G	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr10:105207266G>C	ENST00000260743.5	-	4	1138	c.615C>G	c.(613-615)ctC>ctG	p.L205L	CALHM2_ENST00000369788.3_Silent_p.L205L	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	205						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						AGTAATGCTTGAGGCACTTGG	0.617000													18	52					0	0	0.575678	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628553	205628553	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:205628553C>A	ENST00000367145.3	-	5	1766	c.1471G>T	c.(1471-1473)Gac>Tac	p.D491Y	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	491					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ATGGCGAGGTCCAGGCAGATG	0.642000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	46					2.32416e-17	2.50147e-17	0.624587	1	0
RBM26	64062	broad.mit.edu	37	13	79942973	79942973	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr13:79942973G>T	ENST00000438737.2	-	6	1227	c.787C>A	c.(787-789)Cat>Aat	p.H263N	RBM26_ENST00000267229.7_Missense_Mutation_p.H263N|RBM26_ENST00000438724.1_Missense_Mutation_p.H263N			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	263					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGTTTCCATGATGAGTAGGA	0.418000													7	74					2.17888e-05	2.25271e-05	0.335167	1	0
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr1:154680586_154680588delGCT	ENST00000271915.4	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)cagctc>ctc	p.Q687del	KCNN3_ENST00000361147.4_In_Frame_Del_p.Q382del|KCNN3_ENST00000358505.2_In_Frame_Del_p.Q374del|KCNN3_ENST00000515643.1_5'UTR	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.640													7	174	---	---	---	---					
LINC01250	101927554	broad.mit.edu	37	2	2910378	2910379	+	RNA	INS	-	-	C	rs72051156	by1000genomes	TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:2910378_2910379insC	ENST00000457478.1	-	0	594																											ACAGCCGCCCACCCTACACCTT	0.639													3	3	---	---	---	---					
C2orf16	84226	broad.mit.edu	37	2	27804926	27804927	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr2:27804926_27804927insTC	ENST00000408964.2	+	1	5538_5539	c.5487_5488insTC	c.(5488-5490)tctfs	p.S1830fs		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1830	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGAGAGGAGATCTCACAGGTC	0.550													11	49	---	---	---	---					
LMCD1-AS1	100288428	broad.mit.edu	37	3	8542664	8542664	+	RNA	DEL	T	T	-	rs57546631		TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:8542664delT	ENST00000420095.1	-	0	185				LMCD1-AS1_ENST00000452802.1_RNA|LMCD1-AS1_ENST00000446281.1_RNA|LMCD1-AS1_ENST00000455811.2_RNA|LMCD1-AS1_ENST00000439407.1_RNA	NR_033378.1																						GCCCGCCGCCTCCCTCCCCCC	0.483													2	4	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125647339	125647339	+	RNA	DEL	C	C	-			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr3:125647339delC	ENST00000485843.1	+	0	484					NR_024251.1																						TGTTTCCAGGCCAGGCCAGGA	0.557													8	158	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36652207	36652208	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:36652207_36652208insT	ENST00000405375.1	+	2	564_565	c.329_330insT	c.(328-333)catgtgfs	p.V111fs	CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.V111fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.V111fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.V145fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	111					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GAGGAAGACCATGTGGACCTGT	0.658													14	16	---	---	---	---					
EZR	7430	broad.mit.edu	37	6	159210405	159210406	+	Splice_Site	INS	-	-	A			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr6:159210405_159210406insA	ENST00000367075.3	-	3	181		c.e3-2		EZR_ENST00000337147.7_Splice_Site|EZR_ENST00000392177.4_Splice_Site|EZR_ENST00000476189.1_Splice_Site	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin						actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GACATTGATCTGAAAAACAGAA	0.426			T	ROS1	NSCLC								8	40	---	---	---	---					
SNORD3A	780851	broad.mit.edu	37	17	19091412	19091413	+	RNA	DEL	AA	AA	-			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr17:19091412_19091413delAA	ENST00000365494.1	+	0	84_85																											aaccacgaggaagagaggtagc	0.490													13	437	---	---	---	---					
GLTSCR1	29998	broad.mit.edu	37	19	48197472	48197473	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr19:48197472_48197473insC	ENST00000396720.3	+	8	2578_2579	c.2384_2385insC	c.(2383-2388)caccccfs	p.HP795fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	795							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCTCCCCACACCCCACCCGGC	0.748													2	4	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41560132	41560133	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chr22:41560132_41560133insG	ENST00000263253.7	+	22	5023_5024	c.3804_3805insG	c.(3805-3807)ggafs	p.G1269fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1269					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCTGGCCTGCTGGGTAAGTCTT	0.371			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				20	164	---	---	---	---					
KDM5D	8284	broad.mit.edu	37	Y	21868143	21868143	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A2I4-01A-11D-A21A-08	TCGA-DK-A2I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d68074b8-ce96-4dc5-b14c-3bbc7ba92ad9	6e6b0a28-322f-43a0-8abe-bff1727ae6b7	g.chrY:21868143delT	ENST00000541639.1	-	28	4738	c.4451delA	c.(4450-4452)aacfs	p.N1484fs	KDM5D_ENST00000317961.4_Frame_Shift_Del_p.N1453fs|KDM5D_ENST00000382806.2_Frame_Shift_Del_p.N1396fs	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1453					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	ATTCTCAACGTTTCTACCCTG	0.512													2	4	---	---	---	---					
