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
CD1E	913	broad.mit.edu	37	1	158326366	158326366	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:158326366G>A	ENST00000444681.2	+	4	979	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	CD1E_ENST00000368157.1_Missense_Mutation_p.R84Q|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368163.3_Missense_Mutation_p.R273Q|CD1E_ENST00000368156.1_Missense_Mutation_p.R238Q|CD1E_ENST00000368166.3_Missense_Mutation_p.R139Q|CD1E_ENST00000368167.3_Missense_Mutation_p.R328Q|CD1E_ENST00000368165.3_Missense_Mutation_p.R238Q|CD1E_ENST00000368155.3_Missense_Mutation_p.R183Q|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000452291.2_Missense_Mutation_p.R139Q|CD1E_ENST00000368160.3_Missense_Mutation_p.R328Q|CD1E_ENST00000368154.1_Missense_Mutation_p.R84Q	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	328	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTTGACTCACGGTTAAAAAAA	0.368000													6	22					0	0	0.001168	0	0
ZNF292	23036	broad.mit.edu	37	6	87965604	87965604	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:87965604A>G	ENST00000369577.3	+	8	2300	c.2257A>G	c.(2257-2259)Ata>Gta	p.I753V	ZNF292_ENST00000339907.4_Missense_Mutation_p.I748V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	753					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)		ATATATCTGTATACAGATGAA	0.378000													8	20					0	0	0.003080	0	0
RNF17	56163	broad.mit.edu	37	13	25433215	25433215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr13:25433215G>A	ENST00000255324.5	+	26	3739	c.3687G>A	c.(3685-3687)tgG>tgA	p.W1229*	RNF17_ENST00000381921.1_Nonsense_Mutation_p.W1229*|RNF17_ENST00000339524.3_Nonsense_Mutation_p.W281*	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1229	Tudor 3.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTATTTCTGGAAAAAAGGAG	0.373000													6	32					0	0	0.001168	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999035	27999035	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:27999035C>T	ENST00000441525.1	-	1	531	c.417G>A	c.(415-417)ttG>ttA	p.L139L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	139										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCCACTCCTCCAACGCCTGAT	0.577000													8	7					0	0	0.003080	0	0
ITIH6	347365	broad.mit.edu	37	X	54781507	54781507	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:54781507G>T	ENST00000218436.6	-	9	3174	c.3145C>A	c.(3145-3147)Ctg>Atg	p.L1049M		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1049					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GCTCCTCCCAGGATCTCCTCA	0.483000													35	15					1.43246e-33	2.5815e-33	0.007835	1	0
MYH2	4620	broad.mit.edu	37	17	10432354	10432354	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:10432354C>A	ENST00000245503.5	-	27	3781	c.3397G>T	c.(3397-3399)Gcc>Tcc	p.A1133S	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1133S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1133					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						GCCCGGGAGGCCCGCTCTGCC	0.602000													17	60					8.10497e-08	1.17226e-07	0.001523	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704114	56704114	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:56704114A>T	ENST00000586855.2	-	2	621	c.308T>A	c.(307-309)tTa>tAa	p.L103*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.L103*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	103	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACCTTGACTAAGACCTGGAG	0.542000													7	67					0	0	0.004482	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776363	77776363	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:77776363C>A	ENST00000521891.2	+	11	10861	c.10413C>A	c.(10411-10413)caC>caA	p.H3471Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H3426Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H3445Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H3422Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3422	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAGCTTGCACAAAGAGAAAA	0.448000										HNSCC(33;0.089)			18	39					5.01169e-05	6.32562e-05	0.004990	1	0
MED23	9439	broad.mit.edu	37	6	131924232	131924232	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:131924232G>A	ENST00000403834.3	-	16	2060	c.1887C>T	c.(1885-1887)ctC>ctT	p.L629L	MED23_ENST00000539158.1_3'UTR|MED23_ENST00000354577.4_Silent_p.L629L|MED23_ENST00000540546.1_Silent_p.L629L|MED23_ENST00000368058.1_Silent_p.L629L|MED23_ENST00000545957.1_Silent_p.L264L|MED23_ENST00000368060.3_Silent_p.L623L|MED23_ENST00000368053.4_Silent_p.L629L|MED23_ENST00000368068.3_Silent_p.L623L			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	623					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GATGACTCAGGAGCTGAACTC	0.423000													18	40					0	0	0.007413	0	0
ABTB1	80325	broad.mit.edu	37	3	127395174	127395174	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:127395174G>A	ENST00000232744.8	+	5	466	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	127	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						AAGCCATTCCGGGTGCATCGC	0.582000													23	91					0	0	0.003330	0	0
DCX	1641	broad.mit.edu	37	X	110654013	110654013	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:110654013G>A	ENST00000338081.3	-	1	361	c.190C>T	c.(190-192)Ccg>Tcg	p.P64S	DCX_ENST00000356915.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000371993.2_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	64					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						TGGAACTTCGGGCTAAATACA	0.423000													11	98					0	0	0.000978	0	0
ZNF629	23361	broad.mit.edu	37	16	30793208	30793208	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:30793208C>A	ENST00000262525.4	-	3	2648	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CTCGCCCTCACCTTCCTGATC	0.612000													37	86					2.51541e-25	4.43818e-25	0.004878	1	0
IL17RC	84818	broad.mit.edu	37	3	9975223	9975223	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:9975223G>T	ENST00000295981.3	+	19	2540	c.2322G>T	c.(2320-2322)gcG>gcT	p.A774A	IL17RC_ENST00000383812.4_Silent_p.A688A|IL17RC_ENST00000455057.1_Silent_p.A671A|IL17RC_ENST00000416074.2_Silent_p.A529A|IL17RC_ENST00000403601.3_Silent_p.A703A|IL17RC_ENST00000413608.1_Silent_p.A690A|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	774						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGACTCCCGCGCCGGGACGCG	0.687000													7	8					0.00198382	0.00230533	0.001984	1	0
SEMA3D	223117	broad.mit.edu	37	7	84628952	84628952	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:84628952T>C	ENST00000284136.6	-	17	2181	c.2138A>G	c.(2137-2139)tAc>tGc	p.Y713C	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	713					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GTAGTCTTTGTATCTCAACCG	0.488000													18	44					0	0	0.006122	0	0
SIRPD	128646	broad.mit.edu	37	20	1532359	1532359	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:1532359C>A	ENST00000381623.3	-	2	1588	c.399G>T	c.(397-399)cgG>cgT	p.R133R	SIRPD_ENST00000381621.1_Silent_p.R133R			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	133	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CCTGAGTGCCCCGACCTGATT	0.443000													16	34					1.3612e-06	1.87235e-06	0.003163	1	0
MKI67	4288	broad.mit.edu	37	10	129913665	129913665	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:129913665C>A	ENST00000368654.3	-	7	1382	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	336					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAGAGGAAAGCTGGCGCCCAC	0.483000													49	61					6.08268e-21	1.03528e-20	0.003610	1	0
CDH22	64405	broad.mit.edu	37	20	44806656	44806656	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:44806656G>T	ENST00000372262.3	-	10	2244	c.1844C>A	c.(1843-1845)gCc>gAc	p.A615D	CDH22_ENST00000537909.1_Missense_Mutation_p.A615D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	615	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CATGACAAAGGCCGTGGTGTT	0.652000													5	21					1.23904e-05	1.61844e-05	0.000602	1	0
DCDC1	341019	broad.mit.edu	37	11	30953443	30953443	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:30953443T>A	ENST00000597505.1	-	20	2771	c.2772A>T	c.(2770-2772)aaA>aaT	p.K924N	DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.K3N|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	277					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TACAGATGGGTTTCTTCATGG	0.413000													13	26					0	0	0.001368	0	0
GABRG2	2566	broad.mit.edu	37	5	161576310	161576310	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:161576310G>T	ENST00000356592.3	+	8	1579	c.1119G>T	c.(1117-1119)aaG>aaT	p.K373N	GABRG2_ENST00000393933.4_Missense_Mutation_p.K278N|GABRG2_ENST00000361925.4_Missense_Mutation_p.K373N|GABRG2_ENST00000414552.2_Missense_Mutation_p.K413N	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	373					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATAAAAAGAAGAAAAACCCTG	0.388000													6	39					4.096e-09	6.27433e-09	0.001168	1	0
LAS1L	81887	broad.mit.edu	37	X	64749694	64749694	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:64749694C>A	ENST00000374811.3	-	5	619	c.579G>T	c.(577-579)ctG>ctT	p.L193L	LAS1L_ENST00000312391.8_Silent_p.L193L|LAS1L_ENST00000374807.5_Silent_p.L193L|LAS1L_ENST00000374804.5_Silent_p.L151L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	193						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AGGTCTCTCTCAGGCTGTTCT	0.517000													42	30					4.0492e-12	6.498e-12	0.006999	1	0
ASPDH	554235	broad.mit.edu	37	19	51017748	51017748	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:51017748C>T	ENST00000376916.3	-	1	199	c.19G>A	c.(19-21)Ggt>Agt	p.G7S	ASPDH_ENST00000597030.1_5'UTR	NM_001024656.2	NP_001019827.2	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	0					NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding			endometrium(1)|large_intestine(1)|lung(1)	3						GACTTGCTACCTTTCACTCTG	0.647000													50	105					0	0	0.003610	0	0
BRINP3	339479	broad.mit.edu	37	1	190067160	190067160	+	Silent	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:190067160T>C	ENST00000367462.3	-	8	2520	c.2289A>G	c.(2287-2289)aaA>aaG	p.K763K	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.K661K	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		763						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AACTACATAATTTGGTCGTGT	0.378000													7	89					0	0	0.004482	0	0
CD248	57124	broad.mit.edu	37	11	66082510	66082510	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:66082510A>G	ENST00000311330.3	-	1	2005	c.1989T>C	c.(1987-1989)gcT>gcC	p.A663A	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	663	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CTGCTGTGGGAGCTGGTGAGG	0.647000													10	76					0	0	0.006214	0	0
FBN2	2201	broad.mit.edu	37	5	127666351	127666351	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:127666351C>A	ENST00000508053.1	-	39	5233	c.4259G>T	c.(4258-4260)aGc>aTc	p.S1420I	FBN2_ENST00000508989.1_Missense_Mutation_p.S1387I|FBN2_ENST00000262464.4_Missense_Mutation_p.S1420I|FBN2_ENST00000507835.1_Missense_Mutation_p.S270I			P35556	FBN2_HUMAN	fibrillin 2	1420	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCATTGATGCTACACTGGTG	0.468000													5	33					0.000602214	0.000719668	0.000602	1	0
CMYA5	202333	broad.mit.edu	37	5	79025142	79025142	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:79025142A>G	ENST00000446378.2	+	2	585	c.554A>G	c.(553-555)tAt>tGt	p.Y185C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	185						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAAGTCATATACTGGCATT	0.368000													12	26					0	0	0.000978	0	0
LRRC28	123355	broad.mit.edu	37	15	99828072	99828072	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:99828072G>A	ENST00000301981.3	+	5	541	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	LRRC28_ENST00000422500.2_Missense_Mutation_p.E101K|LRRC28_ENST00000442993.2_Missense_Mutation_p.E101K|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000447360.2_Missense_Mutation_p.E101K	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	101										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)			CAATGCCTTAGAAATTGTTTG	0.388000													17	53					0	0	0.004990	0	0
STAP1	26228	broad.mit.edu	37	4	68436850	68436850	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:68436850T>A	ENST00000265404.2	+	2	251	c.169T>A	c.(169-171)Tat>Aat	p.Y57N	STAP1_ENST00000396225.1_Missense_Mutation_p.Y57N	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	57	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm		p.Y57H(1)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCTTTTCTTTTATACCGACAA	0.313000													39	107					0	0	0.003214	0	0
RBM10	8241	broad.mit.edu	37	X	47034417	47034417	+	Splice_Site	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:47034417G>A	ENST00000377604.3	+	6	1244		c.e6-1		RBM10_ENST00000329236.7_Splice_Site|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Splice_Site	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10						mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCTGTCTCCAGGTCAGAGCCG	0.607000													20	8					0	0	0.001882	0	0
IFNL3	282617	broad.mit.edu	37	19	39735475	39735475	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:39735475G>A	ENST00000413851.2	-	1	171	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L		NM_172139.2	NP_742151.2			interferon, lambda 3																		TGTGGAGACAGGGACTTGAAC	0.632000													17	38					0	0	0.006122	0	0
KCTD14	65987	broad.mit.edu	37	11	77727957	77727957	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:77727957C>A	ENST00000353172.5	-	2	494	c.450G>T	c.(448-450)gaG>gaT	p.E150D	KCTD14_ENST00000533144.1_Missense_Mutation_p.E120D	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	150						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GCACCATGAGCTCCAGGTTCT	0.552000													5	124					1.23904e-05	1.61844e-05	0.000602	1	0
TAF3	83860	broad.mit.edu	37	10	8007139	8007139	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:8007139A>G	ENST00000344293.5	+	3	1872	c.1666A>G	c.(1666-1668)Aag>Gag	p.K556E		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	556	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aagtaaggagaaggataaagt	0.378000													12	18					0	0	0.000978	0	0
SCN11A	11280	broad.mit.edu	37	3	38938351	38938351	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:38938351C>A	ENST00000302328.3	-	14	2586	c.2388G>T	c.(2386-2388)gtG>gtT	p.V796V	SCN11A_ENST00000444237.2_Silent_p.V796V|SCN11A_ENST00000456224.3_Silent_p.V796V|SCN11A_ENST00000450244.1_Silent_p.V796V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	796					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTTTTCCTATCACCGTGATCA	0.353000													12	15					0.00136819	0.00160098	0.001368	1	0
EIF3D	8664	broad.mit.edu	37	22	36912753	36912753	+	Splice_Site	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:36912753G>A	ENST00000216190.8	-	11	1445	c.1076_splice	c.e11+1	p.R359_splice	EIF3D_ENST00000405442.1_Splice_Site_p.R359_splice|EIF3D_ENST00000541106.1_Splice_Site_p.R310_splice	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	359						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTGACCTACCGGTACGCAACA	0.502000													8	132					0	0	0.003080	0	0
KERA	11081	broad.mit.edu	37	12	91449763	91449763	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:91449763C>G	ENST00000266719.3	-	2	543	c.296G>C	c.(295-297)tGg>tCg	p.W99S		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	99					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TAGATTTATCCATCTTAGCTG	0.368000													27	56					0	0	0.003954	0	0
GPR35	2859	broad.mit.edu	37	2	241569575	241569575	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:241569575T>G	ENST00000319838.5	+	6	1148	c.206T>G	c.(205-207)cTg>cGg	p.L69R	GPR35_ENST00000438013.2_Missense_Mutation_p.L100R|GPR35_ENST00000407714.1_Missense_Mutation_p.L69R|GPR35_ENST00000403859.1_Missense_Mutation_p.L69R|GPR35_ENST00000430267.1_Missense_Mutation_p.L69R	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	69						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GACCTCTGCCTGCTGTGCACC	0.632000													18	28					0	0	0.008871	0	0
UNC93A	54346	broad.mit.edu	37	6	167721399	167721399	+	Splice_Site	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:167721399G>T	ENST00000230256.3	+	7	1283		c.e7+1		UNC93A_ENST00000366829.2_Splice_Site	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)							integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CAAAACAATGGTGAGTCCCCA	0.607000													11	28					4.68919e-08	6.84094e-08	0.008291	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090355	238090355	+	RNA	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:238090355G>T	ENST00000450451.1	+	0	1861					NR_027247.2																						GCATGGCATCGTCACCAACTG	0.602000													11	65					1.08611e-07	1.55752e-07	0.000978	1	0
CYP11B1	1584	broad.mit.edu	37	8	143957227	143957227	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:143957227C>A	ENST00000292427.4	-	6	1054	c.1022G>T	c.(1021-1023)cGc>cTc	p.R341L	CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341L|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCTCTCCTGGCGCAGGGCCTG	0.642000									Familial Hyperaldosteronism type I				52	108					7.47603e-22	1.28542e-21	0.003610	1	0
FASN	2194	broad.mit.edu	37	17	80042140	80042140	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:80042140G>A	ENST00000306749.2	-	28	5107	c.4889C>T	c.(4888-4890)cCg>cTg	p.P1630L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1630					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GAGGAAGTCCGGTGACAGCAG	0.652000													9	11					0	0	0.004482	0	0
GPR156	165829	broad.mit.edu	37	3	119886746	119886746	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:119886746C>A	ENST00000464295.1	-	10	2023	c.1578G>T	c.(1576-1578)agG>agT	p.R526S	GPR156_ENST00000461057.1_Missense_Mutation_p.R522S|GPR156_ENST00000315843.3_Missense_Mutation_p.R526S			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	526						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCTCCAGATGCCTCTGTCTCT	0.577000													55	110					5.47352e-35	9.97069e-35	0.003610	1	0
OSGEPL1	64172	broad.mit.edu	37	2	190619958	190619958	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:190619958A>T	ENST00000519810.1	-	4	892	c.550T>A	c.(550-552)Tca>Aca	p.S184T	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.S184T|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.S184T			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	184					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			AGAAAATCTGAAACTCCTTGA	0.348000													28	22					0	0	0.007291	0	0
CDH18	1016	broad.mit.edu	37	5	19473781	19473781	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:19473781G>A	ENST00000507958.1	-	15	2917	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.P643S|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.P643S			Q13634	CAD18_HUMAN	cadherin 18, type 2	643					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGATCAAGGGCTCTTTTTTG	0.443000													15	226					0	0	0.003163	0	0
ASXL3	80816	broad.mit.edu	37	18	31323767	31323767	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr18:31323767G>T	ENST00000269197.5	+	12	3955	c.3955G>T	c.(3955-3957)Gat>Tat	p.D1319Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1319	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGCTCCATGGATGATAAGCA	0.453000													72	132					1.49723e-40	2.75719e-40	0.003610	1	0
SPTA1	6708	broad.mit.edu	37	1	158590209	158590209	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:158590209G>C	ENST00000368148.3	-	44	6348	c.6168C>G	c.(6166-6168)aaC>aaG	p.N2056K	SPTA1_ENST00000368147.3_Missense_Mutation_p.N2053K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2056					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)					CACACCAGTTGTTCAAAGCTG	0.458000													12	30					0	0	0.002450	0	0
APBA1	320	broad.mit.edu	37	9	72055918	72055918	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:72055918A>G	ENST00000265381.4	-	11	2517	c.2295T>C	c.(2293-2295)aaT>aaC	p.N765N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	765	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TTACAATTCCATTCTGGACGC	0.483000													8	63					0	0	0.008291	0	0
POP1	10940	broad.mit.edu	37	8	99142321	99142321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:99142321G>A	ENST00000401707.2	+	5	683	c.602G>A	c.(601-603)tGg>tAg	p.W201*	POP1_ENST00000349693.3_Nonsense_Mutation_p.W201*	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)	201					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)			AAGAACATTTGGTTAGAAACT	0.448000													24	31					0	0	0.002780	0	0
HAS2	3037	broad.mit.edu	37	8	122641356	122641356	+	Silent	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:122641356T>C	ENST00000303924.4	-	2	762	c.225A>G	c.(223-225)ctA>ctG	p.L75L		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	75						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGGGGTTTCTAGGGATTTTT	0.413000													34	184					0	0	0.002836	0	0
LRRC32	2615	broad.mit.edu	37	11	76372307	76372307	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:76372307C>T	ENST00000407242.2	-	3	572	c.330G>A	c.(328-330)gcG>gcA	p.A110A	LRRC32_ENST00000404995.1_Silent_p.A110A|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.A110A	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	110						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGTGGCCATCGCCAGCCGGT	0.672000													24	99					0	0	0.002299	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460446	113460446	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:113460446G>A	ENST00000538576.1	-	4	1413	c.582C>T	c.(580-582)ctC>ctT	p.L194L	SLC16A1_ENST00000369626.3_Silent_p.L194L|SLC16A1_ENST00000433570.4_Silent_p.L194L	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	194					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)	TTGGTCGCATGAGGGCTCCAG	0.488000													29	27					0	0	0.008361	0	0
POM121L12	285877	broad.mit.edu	37	7	53103448	53103448	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:53103448C>A	ENST00000408890.4	+	1	100	c.84C>A	c.(82-84)gcC>gcA	p.A28A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	28										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCCCGACGCCCTGGCGGCTC	0.706000													12	27					6.40141e-05	7.96043e-05	0.000978	1	0
AKAP13	11214	broad.mit.edu	37	15	86122780	86122780	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:86122780G>T	ENST00000394518.2	+	7	1576	c.1481G>T	c.(1480-1482)tGg>tTg	p.W494L	AKAP13_ENST00000361243.2_Missense_Mutation_p.W494L|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	494	RII-binding.		W -> R (in dbSNP:rs2061822).		apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCCACTGTTTGGAAGAATGTG	0.488000													32	53					3.57733e-08	5.26445e-08	0.001786	1	0
RBP3	5949	broad.mit.edu	37	10	48388863	48388863	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:48388863G>A	ENST00000224600.4	-	1	2128	c.2015C>T	c.(2014-2016)gCc>gTc	p.A672V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	672	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)	TGTGCGGTAGGCGCCCTGGGC	0.662000													14	25					0	0	0.001855	0	0
ERBB4	2066	broad.mit.edu	37	2	212248356	212248356	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:212248356C>A	ENST00000342788.4	-	28	4221	c.3911G>T	c.(3910-3912)cGg>cTg	p.R1304L	ERBB4_ENST00000402597.1_Missense_Mutation_p.R1294L|ERBB4_ENST00000436443.1_Missense_Mutation_p.R1288L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1304					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACAGTATTCCGGTGTCTGTA	0.532000										TSP Lung(8;0.080)			12	42					7.93312e-07	1.10474e-06	0.002450	1	0
GBF1	8729	broad.mit.edu	37	10	104103885	104103885	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:104103885A>T	ENST00000369983.3	+	4	501	c.241A>T	c.(241-243)Atc>Ttc	p.I81F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	81					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CACTGGCCCTATCACTGGACT	0.458000													46	60					0	0	0.002522	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192477	132192477	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:132192477G>C	ENST00000359827.3	-	2	1938	c.976C>G	c.(976-978)Ctt>Gtt	p.L326V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L326V|PLXNA4_ENST00000423507.2_Missense_Mutation_p.L326V|PLXNA4_ENST00000378539.5_Missense_Mutation_p.L326V			Q9HCM2	PLXA4_HUMAN	plexin A4	326	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGACTCCAAGGGTCCTGCCA	0.587000													17	27					0	0	0.007413	0	0
ENC1	8507	broad.mit.edu	37	5	73931234	73931234	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:73931234C>A	ENST00000302351.4	-	2	2207	c.1077G>T	c.(1075-1077)tgG>tgT	p.W359C	ENC1_ENST00000510316.1_Missense_Mutation_p.W286C|ENC1_ENST00000537006.1_Missense_Mutation_p.W359C	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	359					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TATCATAAACCCAGACATCTT	0.542000													40	68					2.52637e-11	3.99712e-11	0.005524	1	0
FASN	2194	broad.mit.edu	37	17	80051597	80051597	+	Missense_Mutation	SNP	C	C	A	rs145409565		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:80051597C>A	ENST00000306749.2	-	4	549	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	111	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GAGCCGCTCACGCCCACCCAG	0.662000													23	61					1.96895e-08	2.936e-08	0.002780	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530196	80530196	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:80530196C>A	ENST00000295057.3	-	2	1405	c.749G>T	c.(748-750)aGc>aTc	p.S250I	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S250I|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	250						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GTCCAGCGAGCTGACCACAAT	0.592000										HNSCC(69;0.2)			12	58					0.000978159	0.0011648	0.000978	1	0
ZNF106	64397	broad.mit.edu	37	15	42714782	42714782	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:42714782G>A	ENST00000263805.4	-	15	5547	c.5221C>T	c.(5221-5223)Cat>Tat	p.H1741Y	ZNF106_ENST00000565380.1_Missense_Mutation_p.H969Y|ZNF106_ENST00000565611.1_Missense_Mutation_p.H926Y|ZNF106_ENST00000565660.1_5'UTR	NM_022473.1	NP_071918.1			zinc finger protein 106																		GTCACTGCATGATTGTGACCT	0.418000													14	31					0	0	0.001855	0	0
FAM47C	442444	broad.mit.edu	37	X	37028396	37028396	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:37028396G>A	ENST00000358047.3	+	1	1965	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	638										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGGATGTACAGT	0.647000													43	32					0	0	0.003610	0	0
OR6F1	343169	broad.mit.edu	37	1	247875407	247875407	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:247875407G>T	ENST00000302084.2	-	1	698	c.651C>A	c.(649-651)tcC>tcA	p.S217S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGTACACATAGGAGACAAAGG	0.542000													35	64					4.31634e-10	6.6725e-10	0.002445	1	0
HIVEP1	3096	broad.mit.edu	37	6	12161872	12161872	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:12161872G>A	ENST00000379388.2	+	8	7020	c.6688G>A	c.(6688-6690)Gag>Aag	p.E2230K	HIVEP1_ENST00000541134.1_Missense_Mutation_p.E95K	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2230					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGTACTGACGAGGATGTCAG	0.572000													14	15					0	0	0.001855	0	0
VPS13B	157680	broad.mit.edu	37	8	100829872	100829872	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:100829872G>A	ENST00000358544.2	+	45	8388	c.8277G>A	c.(8275-8277)cgG>cgA	p.R2759R	VPS13B_ENST00000357162.2_Silent_p.R2734R|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2759					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTAGTTCGGGAACATTTTG	0.423000													22	44					0	0	0.002299	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187634	58187634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:58187634G>T	ENST00000318203.5	+	3	818	c.121G>T	c.(121-123)Gag>Tag	p.E41*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	41					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGGATTTCTGAGTTCTCAAG	0.398000													11	33					6.40141e-05	7.96043e-05	0.000978	1	0
SRP72	6731	broad.mit.edu	37	4	57344766	57344766	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:57344766A>T	ENST00000342756.5	+	8	1497	c.776A>T	c.(775-777)gAt>gTt	p.D259V	SRP72_ENST00000510663.1_Intron	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	259					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AGACCAACAGATGTGGGATTA	0.348000													15	26					0	0	0.003163	0	0
PTPRN	5798	broad.mit.edu	37	2	220162011	220162011	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:220162011A>G	ENST00000295718.2	-	14	2272	c.2032T>C	c.(2032-2034)Tgg>Cgg	p.W678R	PTPRN_ENST00000423636.2_Missense_Mutation_p.W588R|PTPRN_ENST00000409251.3_Missense_Mutation_p.W649R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	678					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TCCTCGCACCAGGACGGGGTG	0.657000													20	43					0	0	0.008871	0	0
CCT7	10574	broad.mit.edu	37	2	73461511	73461511	+	Splice_Site	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:73461511T>A	ENST00000258091.5	+	1	146	c.6_splice	c.e1+1	p.M2_splice	CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000540468.1_Splice_Site_p.M2_splice|CCT7_ENST00000539919.1_5'UTR|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000398422.2_Splice_Site_p.M2_splice|CCT7_ENST00000473786.1_3'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	2					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TCCAAAATGATGGTGAGTGGC	0.627000													12	21					0	0	0.000978	0	0
AMPH	273	broad.mit.edu	37	7	38500890	38500890	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:38500890G>T	ENST00000356264.2	-	11	1225	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	AMPH_ENST00000428293.2_Missense_Mutation_p.P337H|AMPH_ENST00000325590.5_Missense_Mutation_p.P337H	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	337					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TACCTGGGAAGGTGTTGTCAC	0.502000													51	91					1.32667e-27	2.36554e-27	0.003610	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146825897	146825897	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:146825897C>A	ENST00000361727.3	+	7	1568	c.1052C>A	c.(1051-1053)gCc>gAc	p.A351D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	351	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGATCTTGCCAGAAGGAAG	0.393000										HNSCC(39;0.1)			20	73					2.89027e-11	4.5515e-11	0.002299	1	0
CYP26B1	56603	broad.mit.edu	37	2	72360433	72360433	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:72360433C>G	ENST00000001146.2	-	5	1068	c.865G>C	c.(865-867)Ggg>Cgg	p.G289R	CYP26B1_ENST00000412253.1_Missense_Mutation_p.G98R|CYP26B1_ENST00000546307.1_Missense_Mutation_p.G214R	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	289					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCCAGGGTCCCGTCCTGCAGG	0.632000													10	20					0	0	0.001368	0	0
SLC2A9	56606	broad.mit.edu	37	4	9982247	9982247	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:9982247T>A	ENST00000506583.1	-	7	780	c.563A>T	c.(562-564)cAg>cTg	p.Q188L	SLC2A9_ENST00000264784.3_Missense_Mutation_p.Q217L|SLC2A9_ENST00000309065.3_Missense_Mutation_p.Q188L			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	217					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GCCCAGAAGCTGCCCAGTGAA	0.567000													21	28					0	0	0.002299	0	0
FHOD3	80206	broad.mit.edu	37	18	34298499	34298499	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr18:34298499A>G	ENST00000257209.4	+	16	2835	c.2713A>G	c.(2713-2715)Act>Gct	p.T905A	FHOD3_ENST00000445677.1_Missense_Mutation_p.T867A|FHOD3_ENST00000359247.4_Missense_Mutation_p.T888A|FHOD3_ENST00000590592.1_Missense_Mutation_p.T1080A|FHOD3_ENST00000591635.1_Missense_Mutation_p.T101A	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	888	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCCCACATTCACTAAGAAAAA	0.507000													25	74					0	0	0.003954	0	0
AIF1L	83543	broad.mit.edu	37	9	133986984	133986984	+	Splice_Site	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:133986984G>T	ENST00000372309.3	+	4	326	c.171_splice	c.e4-1	p.E58_splice	AIF1L_ENST00000372300.1_Splice_Site_p.E32_splice|AIF1L_ENST00000372297.2_5'UTR|AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000372301.2_5'UTR|AIF1L_ENST00000372302.1_Splice_Site_p.E32_splice|AIF1L_ENST00000372298.1_Splice_Site_p.E32_splice|AIF1L_ENST00000247291.3_Splice_Site_p.E32_splice|AIF1L_ENST00000372312.3_Splice_Site_p.E37_splice	NM_001185095.1	NP_001172024.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	32	EF-hand 1.					actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding			lung(2)	2						ACCTCTTTAGGAGTTTCTGTG	0.547000													84	124					1.58411e-63	2.94942e-63	0.003610	1	0
TEX11	56159	broad.mit.edu	37	X	69890292	69890292	+	Silent	SNP	G	G	A	rs148392671		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:69890292G>A	ENST00000395889.2	-	17	1515	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	TEX11_ENST00000344304.3_Silent_p.L454L|TEX11_ENST00000374333.2_Silent_p.L439L|TEX11_ENST00000374320.2_Silent_p.L129L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	454							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GTGAAGTCCAGATCCATTTCA	0.353000													19	3					0	0	0.001523	0	0
TEX13A	56157	broad.mit.edu	37	X	104464957	104464957	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:104464957G>T	ENST00000372578.3	-	2	236	c.125C>A	c.(124-126)tCc>tAc	p.S42Y	TEX13A_ENST00000372575.1_Missense_Mutation_p.S42Y|TEX13A_ENST00000413579.1_Missense_Mutation_p.S42Y|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	42						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CTTCTCCCAGGATAAGGATAT	0.567000													11	23					1.61879e-10	2.52561e-10	0.001368	1	0
RNFT2	84900	broad.mit.edu	37	12	117271635	117271635	+	Silent	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:117271635G>C	ENST00000257575.4	+	8	1154	c.921G>C	c.(919-921)ctG>ctC	p.L307L	RNFT2_ENST00000407967.3_Silent_p.L307L|RNFT2_ENST00000392549.2_Silent_p.L307L|RNFT2_ENST00000319176.7_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	307						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TGAGCCAGCTGTTCCGATCCC	0.512000													19	29					0	0	0.008871	0	0
HCN1	348980	broad.mit.edu	37	5	45645551	45645551	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:45645551C>A	ENST00000303230.4	-	2	642	c.585G>T	c.(583-585)agG>agT	p.R195S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	195						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGTCCCAGTCCTAAAATTCA	0.373000													15	33					1.49906e-05	1.94301e-05	0.002450	1	0
PTDSS1	9791	broad.mit.edu	37	8	97296350	97296350	+	Silent	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:97296350A>T	ENST00000517309.1	+	3	611	c.285A>T	c.(283-285)cgA>cgT	p.R95R	PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	95					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CGTTCACTCGACCTCATCCAG	0.353000													4	67					0	0	0.000248	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744733	70744733	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:70744733G>T	ENST00000260126.3	-	2	882	c.176C>A	c.(175-177)cCg>cAg	p.P59Q	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P59Q|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P59Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	59						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)			GCCAAAGGCCGGGTTGGCGTC	0.657000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	46					9.31168e-06	1.24525e-05	0.001855	1	0
CDH19	28513	broad.mit.edu	37	18	64202248	64202248	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr18:64202248G>T	ENST00000262150.2	-	8	1603	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	CDH19_ENST00000540086.1_Missense_Mutation_p.N437K	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	437	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TAATACTTAGGTTGTACCAAG	0.328000													21	36					8.10497e-08	1.17226e-07	0.001523	1	0
ZNF697	90874	broad.mit.edu	37	1	120165529	120165529	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:120165529C>T	ENST00000421812.2	-	3	1556	c.1437G>A	c.(1435-1437)acG>acA	p.T479T		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GCTGCGTGAGCGTGGAGAAGT	0.652000													10	4					0	0	0.006214	0	0
LRRCC1	85444	broad.mit.edu	37	8	86025216	86025216	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:86025216A>G	ENST00000414626.2	+	3	1255	c.366A>G	c.(364-366)ctA>ctG	p.L122L	LRRCC1_ENST00000360375.3_Silent_p.L142L			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	142					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATATTGATCTACATAGTAATC	0.343000													20	24					0	0	0.002299	0	0
ROBO2	6092	broad.mit.edu	37	3	77607285	77607285	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:77607285G>T	ENST00000461745.1	+	9	2322	c.1422G>T	c.(1420-1422)caG>caT	p.Q474H	ROBO2_ENST00000332191.8_Missense_Mutation_p.Q474H|ROBO2_ENST00000487694.3_Missense_Mutation_p.Q490H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	474	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCACACTGCAGATTAAGAATT	0.378000													7	37					5.18039e-06	7.03948e-06	0.003080	1	0
C7orf10	79783	broad.mit.edu	37	7	40277289	40277289	+	Silent	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:40277289G>C	ENST00000309930.5	+	7	585	c.561G>C	c.(559-561)tcG>tcC	p.S187S	C7orf10_ENST00000401647.2_Silent_p.S187S|C7orf10_ENST00000335693.4_Silent_p.S187S	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	187							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CTGTTGCCTCGGCTGTTTCTG	0.428000													18	50					0	0	0.007413	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923360	9923360	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:9923360C>T	ENST00000396573.2	-	10	2236	c.1927G>A	c.(1927-1929)Gct>Act	p.A643T	GRIN2A_ENST00000396575.2_Missense_Mutation_p.A643T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A643T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A643T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A486T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A643T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	643					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A643S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGTAGCTAGCCAGGAATATG	0.507000													18	52					0	0	0.006122	0	0
GRM5	2915	broad.mit.edu	37	11	88338052	88338052	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:88338052C>A	ENST00000418177.2	-	5	1595	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W	GRM5_ENST00000455756.2_Missense_Mutation_p.G410W|GRM5_ENST00000305432.5_Missense_Mutation_p.G410W|GRM5_ENST00000305447.4_Missense_Mutation_p.G410W|GRM5_ENST00000393297.1_Missense_Mutation_p.G410W			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	410					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTGTGGAGCCCATAGGCCATC	0.463000													38	30					2.75727e-19	4.66935e-19	0.004878	1	0
LRRC28	123355	broad.mit.edu	37	15	99828097	99828097	+	Missense_Mutation	SNP	G	G	T	rs146950856	byFrequency	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:99828097G>T	ENST00000301981.3	+	5	566	c.326G>T	c.(325-327)cGt>cTt	p.R109L	LRRC28_ENST00000422500.2_Missense_Mutation_p.R109L|LRRC28_ENST00000442993.2_Missense_Mutation_p.R109L|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000447360.2_Missense_Mutation_p.R109L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	109										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)			GAAATTGGTCGTCTGAGAGCT	0.398000													12	50					7.03913e-09	1.06376e-08	0.001368	1	0
UNC5C	8633	broad.mit.edu	37	4	96469940	96469940	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:96469940G>T	ENST00000453304.1	-	1	417	c.69C>A	c.(67-69)ctC>ctA	p.L23L	UNC5C_ENST00000504962.1_Silent_p.L23L|UNC5C_ENST00000506749.1_Silent_p.L23L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	23					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CAGGTAGCACGAGCATTTGCA	0.677000													30	58					1.30988e-24	2.2872e-24	0.002096	1	0
ZNRF3	84133	broad.mit.edu	37	22	29445929	29445929	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:29445929G>T	ENST00000544604.2	+	8	1935	c.1760G>T	c.(1759-1761)cGc>cTc	p.R587L	ZNRF3_ENST00000402174.1_Missense_Mutation_p.R487L|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R487L|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R487L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	587						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TCCACCTTCCGCAGCTCCCTC	0.667000													24	92					2.21704e-12	3.57484e-12	0.002780	1	0
ZNF226	7769	broad.mit.edu	37	19	44680673	44680673	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:44680673A>G	ENST00000590089.1	+	7	1625	c.1258A>G	c.(1258-1260)Aaa>Gaa	p.K420E	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.K420E|ZNF226_ENST00000337433.5_Missense_Mutation_p.K420E			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GAAACCATACAAATGTGAGGA	0.418000													24	48					0	0	0.002299	0	0
BCAN	63827	broad.mit.edu	37	1	156622210	156622210	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:156622210G>A	ENST00000329117.4	+	8	1804	c.1468G>A	c.(1468-1470)Ggc>Agc	p.G490S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G490S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	490					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCAGCCCGGGCCCTGAGGC	0.607000													3	16					0	0	0.004672	0	0
TENM2	57451	broad.mit.edu	37	5	167589629	167589629	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:167589629C>A	ENST00000519204.1	+	12	2191	c.2073C>A	c.(2071-2073)gaC>gaA	p.D691E	TENM2_ENST00000403607.2_Missense_Mutation_p.D636E|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.D580E|TENM2_ENST00000518659.1_Missense_Mutation_p.D812E|TENM2_ENST00000545108.1_Missense_Mutation_p.D812E					teneurin transmembrane protein 2																		GCTGCCCTGACTTGTGCAACG	0.617000													12	23					5.50884e-06	7.39633e-06	0.001368	1	0
TIAM1	7074	broad.mit.edu	37	21	32493002	32493002	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr21:32493002T>C	ENST00000286827.3	-	29	4931	c.4460A>G	c.(4459-4461)cAg>cGg	p.Q1487R	TIAM1_ENST00000541036.1_Missense_Mutation_p.Q1427R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1487					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AAGATCAAACTGCTCCTCTAC	0.547000													17	26					0	0	0.004990	0	0
IGSF9B	22997	broad.mit.edu	37	11	133807324	133807324	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:133807324C>G	ENST00000321016.8	-	5	856	c.626G>C	c.(625-627)cGa>cCa	p.R209P	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R209P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	209	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGTACGCTCGGCAGGTGTA	0.617000													10	8					0	0	0.001368	0	0
KCNG1	3755	broad.mit.edu	37	20	49621081	49621081	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:49621081C>T	ENST00000371571.4	-	3	1322	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	346						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCGCAGCGCCCGCAGCACGCG	0.736000													9	8					0	0	0.006214	0	0
TMEM117	84216	broad.mit.edu	37	12	44781917	44781917	+	Missense_Mutation	SNP	C	C	T	rs141562455		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:44781917C>T	ENST00000266534.3	+	8	1134	c.1007C>T	c.(1006-1008)cCg>cTg	p.P336L	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.P232L|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	336						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATATCGGCCCGGGGCAGAAG	0.378000													4	32					0	0	0.000248	0	0
MYCBP2	23077	broad.mit.edu	37	13	77831856	77831856	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr13:77831856T>C	ENST00000407578.2	-	14	2392	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N671S|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N671S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGTCCTTTATTATTTACACC	0.383000													48	79					0	0	0.003610	0	0
OCA2	4948	broad.mit.edu	37	15	28231765	28231765	+	Missense_Mutation	SNP	C	C	G	rs140703213		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:28231765C>G	ENST00000354638.3	-	12	1362	c.1207G>C	c.(1207-1209)Gaa>Caa	p.E403Q	OCA2_ENST00000353809.5_Missense_Mutation_p.E379Q|OCA2_ENST00000382996.2_Missense_Mutation_p.E403Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	403					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AATCCCGTTTCTGAAAATATG	0.313000									Oculocutaneous Albinism				34	61					0	0	0.006230	0	0
ACTN2	88	broad.mit.edu	37	1	236902780	236902780	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:236902780T>A	ENST00000366578.4	+	10	1221	c.1055T>A	c.(1054-1056)cTg>cAg	p.L352Q	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Missense_Mutation_p.L352Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	352					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAGACCAAGCTGCGGATCAGC	0.607000													13	44					0	0	0.001368	0	0
TRAJ9	28746	broad.mit.edu	37	14	23004542	23004542	+	RNA	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:23004542C>A	ENST00000390528.1	+	0	41																											GGAGCAGGAACAAGACTATTT	0.363000													9	23					1.12685e-05	1.48339e-05	0.004482	1	0
OR4P4	81300	broad.mit.edu	37	11	55406128	55406128	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:55406128C>G	ENST00000314612.2	+	1	295	c.295C>G	c.(295-297)Ctc>Gtc	p.L99V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TATGATACAACTCTTTACCAC	0.443000													16	76					0	0	0.003163	0	0
C2orf71	388939	broad.mit.edu	37	2	29295617	29295617	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:29295617G>T	ENST00000331664.5	-	1	1510	c.1511C>A	c.(1510-1512)gCc>gAc	p.A504D		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	504					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCCTGCCAGGCACACAGACT	0.562000													31	92					2.81731e-10	4.37528e-10	0.002096	1	0
DDI1	414301	broad.mit.edu	37	11	103907872	103907872	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:103907872C>G	ENST00000302259.3	+	1	565	c.322C>G	c.(322-324)Cgt>Ggt	p.R108G	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	108					proteolysis		aspartic-type endopeptidase activity	p.R108C(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTCCAGCTCCCGTCCACAGCA	0.667000													47	45					0	0	0.003610	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115540429	115540429	+	Silent	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:115540429C>G	ENST00000354462.3	+	6	644	c.486C>G	c.(484-486)ccC>ccG	p.P162P	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.P330P|PLEKHS1_ENST00000369309.1_Silent_p.P246P					pleckstrin homology domain containing, family S member 1																		GTATGTGTCCCTCAAAATGCC	0.453000													15	20					0	0	0.003163	0	0
ZNF423	23090	broad.mit.edu	37	16	49671140	49671140	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:49671140G>C	ENST00000561648.1	-	4	1976	c.1923C>G	c.(1921-1923)ttC>ttG	p.F641L	ZNF423_ENST00000562520.1_Missense_Mutation_p.F581L|ZNF423_ENST00000535559.1_Missense_Mutation_p.F524L|ZNF423_ENST00000567169.1_Missense_Mutation_p.F524L|ZNF423_ENST00000262383.2_Missense_Mutation_p.F641L|ZNF423_ENST00000563137.2_Missense_Mutation_p.F581L|ZNF423_ENST00000562871.1_Missense_Mutation_p.F581L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	641					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAAAGTTGGAGAACTTGAGGT	0.582000													4	44					0	0	0.000602	0	0
RFC1	5981	broad.mit.edu	37	4	39291518	39291518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:39291518G>A	ENST00000381897.1	-	24	3446	c.3313C>T	c.(3313-3315)Caa>Taa	p.Q1105*	RFC1_ENST00000349703.2_Nonsense_Mutation_p.Q1104*	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1105					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCATCAGATTGAGAGTCATCT	0.398000													20	89					0	0	0.007413	0	0
CALHM2	51063	broad.mit.edu	37	10	105209508	105209508	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:105209508G>T	ENST00000393235.1	-	3	1388	c.191C>A	c.(190-192)cCc>cAc	p.P64H	CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000369788.3_Missense_Mutation_p.P64H|CALHM2_ENST00000260743.5_Missense_Mutation_p.P64H			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	64						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CACCAGGGCGGGCACGCCGAT	0.667000													6	75					3.59834e-05	4.59333e-05	0.001168	1	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259973	71259973	+	Silent	SNP	A	A	T	rs35547146		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:71259973A>T	ENST00000528743.2	+	1	508	c.270A>T	c.(268-270)tcA>tcT	p.S90S		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	90	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GTTGCTCTTCAGGCTGTGGGT	0.632000													140	191					0	0	0.003610	0	0
TRIM52	84851	broad.mit.edu	37	5	180687006	180687006	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:180687006T>C	ENST00000327767.4	-	1	1113	c.809A>G	c.(808-810)tAc>tGc	p.Y270C	CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	270						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TCTCACCTGGTACTCCTGCAC	0.542000													56	157					0	0	0.003610	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48183951	48183951	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:48183951G>T	ENST00000396720.3	+	6	1718	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	508							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)		CAGGTGGACAGCTCATCGCGA	0.731000													27	27					3.65163e-15	6.00292e-15	0.006320	1	0
WNT10B	7480	broad.mit.edu	37	12	49359933	49359933	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:49359933C>A	ENST00000301061.4	-	5	1463	c.1115G>T	c.(1114-1116)tGc>tTc	p.C372F	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	372					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CAGCACATAGCAGCACCAGTG	0.592000													18	53					9.7654e-05	0.000120547	0.007413	1	0
ATP9A	10079	broad.mit.edu	37	20	50329578	50329578	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:50329578C>A	ENST00000338821.5	-	4	627	c.363G>T	c.(361-363)gcG>gcT	p.A121A	ATP9A_ENST00000311637.5_Silent_p.A106A|ATP9A_ENST00000402822.1_Silent_p.A121A	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	121					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCCTCCACCGCCTCACGGA	0.627000													6	20					0.00116845	0.00137201	0.001168	1	0
MUC17	140453	broad.mit.edu	37	7	100679577	100679577	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:100679577G>T	ENST00000306151.4	+	3	4944	c.4880G>T	c.(4879-4881)aGt>aTt	p.S1627I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1627	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S1627I(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACTCCTAGTGAAGGAAGT	0.493000													71	244					2.36135e-34	4.27837e-34	0.003610	1	0
CDH26	60437	broad.mit.edu	37	20	58569452	58569452	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:58569452C>T	ENST00000348616.4	+	11	1874	c.1574C>T	c.(1573-1575)cCg>cTg	p.P525L	CDH26_ENST00000244047.5_Missense_Mutation_p.P525L|CDH26_ENST00000497614.1_3'UTR	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	525					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCAGAGGATCCGGACCTGGAG	0.542000													3	32					0	0	0.004672	0	0
NIM1K	167359	broad.mit.edu	37	5	43280133	43280133	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:43280133A>G	ENST00000512796.1	+	4	2112	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	NIM1_ENST00000326035.2_Missense_Mutation_p.T205A			Q8IY84	NIM1_HUMAN		205	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TGTATTCTATACCAGTAATAC	0.378000													17	42					0	0	0.004990	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416636	57416636	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:57416636A>T	ENST00000565912.1	+	2	3478	c.772A>T	c.(772-774)Acc>Tcc	p.T258S	CX3CL1_ENST00000006053.6_Missense_Mutation_p.T296S|CX3CL1_ENST00000563383.1_Missense_Mutation_p.T302S			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	296	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTCAGAAGGGACCCCCAGCAG	0.657000													7	67					0	0	0.004482	0	0
SCUBE1	80274	broad.mit.edu	37	22	43616542	43616542	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:43616542C>A	ENST00000360835.3	-	14	1727	c.1601G>T	c.(1600-1602)aGg>aTg	p.R534M		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	534					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCCACGGCGCCTCTTCTTGGA	0.582000													12	58					0.00010058	0.000123706	0.001368	1	0
OR4K2	390431	broad.mit.edu	37	14	20345265	20345265	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:20345265C>A	ENST00000298642.2	+	1	875	c.839C>A	c.(838-840)cCc>cAc	p.P280H		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTTTACTCCCACTCTGAAC	0.378000													29	56					8.58068e-18	1.43153e-17	0.007291	1	0
ATRX	546	broad.mit.edu	37	X	76891476	76891476	+	Silent	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:76891476T>C	ENST00000373344.5	-	16	4843	c.4629A>G	c.(4627-4629)gaA>gaG	p.E1543E	ATRX_ENST00000395603.3_Silent_p.E1505E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1543					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTTGGTTTCTTCATCTTCAT	0.333000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						13	7					0	0	0.001368	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83350667	83350667	+	Silent	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:83350667G>C	ENST00000295470.5	-	1	352	c.177C>G	c.(175-177)cgC>cgG	p.R59R	HNRNPDL_ENST00000502762.1_Silent_p.R59R	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		CGGTGACGTGGCGCTGGGCCC	0.751000													3	3					0	0	0.004672	0	0
ACAN	176	broad.mit.edu	37	15	89398733	89398733	+	Missense_Mutation	SNP	C	C	A	rs141525827	by1000genomes	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:89398733C>A	ENST00000439576.2	+	12	3291	c.2917C>A	c.(2917-2919)Ctc>Atc	p.L973I	ACAN_ENST00000352105.7_Missense_Mutation_p.L973I|ACAN_ENST00000561243.1_Missense_Mutation_p.L973I|ACAN_ENST00000559004.1_Missense_Mutation_p.L973I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	973					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTAGGAGACCTCAGTGGGCT	0.557000													101	185					1.35424e-50	2.50757e-50	0.003610	1	0
SLC32A1	140679	broad.mit.edu	37	20	37356572	37356572	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:37356572C>A	ENST00000217420.1	+	2	1131	c.868C>A	c.(868-870)Cgc>Agc	p.R290S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	290					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)	ATCGCGGGCGCGCGACTGGGC	0.532000													19	34					2.35188e-11	3.7386e-11	0.006122	1	0
GABRA4	2557	broad.mit.edu	37	4	46930594	46930594	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:46930594C>T	ENST00000264318.3	-	9	2295	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	438					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGCATTTGCACGGCTGAATGG	0.463000													5	69					0	0	0.001168	0	0
PTCHD2	57540	broad.mit.edu	37	1	11591064	11591064	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:11591064C>T	ENST00000294484.6	+	16	3341	c.3203C>T	c.(3202-3204)cCg>cTg	p.P1068L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.P1068L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1068					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTGGTGAAGCCGGGTGGGGCC	0.622000													41	75					0	0	0.007835	0	0
XIRP2	129446	broad.mit.edu	37	2	168074801	168074801	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:168074801A>G	ENST00000409195.1	+	5	938	c.849A>G	c.(847-849)agA>agG	p.R283R	XIRP2_ENST00000409273.1_Silent_p.R61R|XIRP2_ENST00000295237.9_Silent_p.R283R|XIRP2_ENST00000409756.2_Silent_p.R283R|XIRP2_ENST00000409605.1_Silent_p.R61R|XIRP2_ENST00000420519.1_Silent_p.R316R|XIRP2_ENST00000409728.1_Silent_p.R316R|XIRP2_ENST00000409043.1_Silent_p.R283R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	108					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCAGAACAGATCTGAGCAGG	0.408000													6	36					0	0	0.001168	0	0
EPS8L3	79574	broad.mit.edu	37	1	110293370	110293370	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:110293370C>T	ENST00000369805.3	-	18	1914	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.R531H|EPS8L3_ENST00000361965.4_Missense_Mutation_p.R561H	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	561						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGTCTTATGCGAAGTAGCTG	0.607000													16	19					0	0	0.004990	0	0
DISP1	84976	broad.mit.edu	37	1	223178804	223178804	+	Silent	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:223178804T>C	ENST00000284476.6	+	8	4229	c.4065T>C	c.(4063-4065)ttT>ttC	p.F1355F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1355					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTAGGAATTTTTTCCTCCACC	0.512000													24	48					0	0	0.002780	0	0
GRM5	2915	broad.mit.edu	37	11	88337921	88337921	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:88337921C>A	ENST00000418177.2	-	5	1726	c.1359G>T	c.(1357-1359)acG>acT	p.T453T	GRM5_ENST00000455756.2_Silent_p.T453T|GRM5_ENST00000305432.5_Silent_p.T453T|GRM5_ENST00000305447.4_Silent_p.T453T|GRM5_ENST00000393297.1_Silent_p.T453T			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	453					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CGAATAGGATCGTATCTCCAG	0.443000													26	21					7.92952e-12	1.26647e-11	0.003954	1	0
TNR	7143	broad.mit.edu	37	1	175365760	175365760	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:175365760G>T	ENST00000367674.1	-	5	1868	c.1160C>A	c.(1159-1161)cCa>cAa	p.P387Q	TNR_ENST00000263525.2_Missense_Mutation_p.P387Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	387	Fibronectin type-III 1.				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)					GGTGAGACCTGGCTCCAGCTC	0.592000													21	48					1.00905e-13	1.64275e-13	0.008871	1	0
SCUBE1	80274	broad.mit.edu	37	22	43614412	43614412	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:43614412G>T	ENST00000360835.3	-	15	1866	c.1740C>A	c.(1738-1740)gcC>gcA	p.A580A		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	580					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TCTTGATGGCGGCCTGCAGGC	0.612000													63	74					6.8682e-38	1.25793e-37	0.003610	1	0
BZRAP1	9256	broad.mit.edu	37	17	56400737	56400737	+	Silent	SNP	C	C	A	rs140181266		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:56400737C>A	ENST00000355701.3	-	7	1896	c.1026G>T	c.(1024-1026)tcG>tcT	p.S342S	BZRAP1_ENST00000268893.6_Silent_p.S282S|BZRAP1_ENST00000343736.4_Silent_p.S342S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	342						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTGAGCTCCGATTCCTGAG	0.582000													13	153					4.3838e-07	6.15559e-07	0.001855	1	0
FAM181A	90050	broad.mit.edu	37	14	94394694	94394694	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:94394694C>T	ENST00000267594.5	+	3	556	c.249C>T	c.(247-249)atC>atT	p.I83I	FAM181A_ENST00000556222.1_Silent_p.I21I|FAM181A_ENST00000557719.1_Silent_p.I21I|FAM181A_ENST00000557000.2_Silent_p.I21I	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	83										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CCAGCGACATCAAGGCAGCCC	0.597000													12	37					0	0	0.001368	0	0
MX1	4599	broad.mit.edu	37	21	42807878	42807878	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr21:42807878G>A	ENST00000398600.2	+	8	1245	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	MX1_ENST00000455164.2_Missense_Mutation_p.A74T|MX1_ENST00000288383.6_Missense_Mutation_p.A74T|MX1_ENST00000398598.3_Missense_Mutation_p.A74T	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	74					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCCAGCCATCGCCGTCATCGG	0.612000													5	60					0	0	0.000602	0	0
LAMB4	22798	broad.mit.edu	37	7	107708521	107708521	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:107708521C>G	ENST00000388781.3	-	19	2469	c.2386G>C	c.(2386-2388)Ggg>Cgg	p.G796R	LAMB4_ENST00000388780.3_Missense_Mutation_p.G796R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G796R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	796	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGCAGCGCCCGACCACAAGA	0.567000													7	174					0	0	0.001984	0	0
LCE3D	84648	broad.mit.edu	37	1	152552345	152552345	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:152552345G>T	ENST00000368787.3	-	2	124	c.68C>A	c.(67-69)cCa>cAa	p.P23Q		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	23					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGGGCTCTTTGGGGGACACTT	0.612000													8	145					0.00307968	0.00354216	0.003080	1	0
SYCP2L	221711	broad.mit.edu	37	6	10911057	10911057	+	Splice_Site	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:10911057G>T	ENST00000283141.6	+	12	1169	c.872_splice	c.e12-1	p.R291_splice	SYCP2L_ENST00000543878.1_Splice_Site_p.R132_splice|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	291						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)			TATTTTGCAGGGTGTATTCAT	0.408000													24	90					6.44725e-10	9.92111e-10	0.002299	1	0
C3	718	broad.mit.edu	37	19	6712321	6712321	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:6712321C>G	ENST00000245907.6	-	11	1308	c.1216G>C	c.(1216-1218)Gtg>Ctg	p.V406L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	406					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGTTTGGCCACGCCATCTCCC	0.617000													25	19					0	0	0.003330	0	0
COL9A1	1297	broad.mit.edu	37	6	70942411	70942411	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:70942411C>A	ENST00000357250.6	-	36	2536	c.2378G>T	c.(2377-2379)gGa>gTa	p.G793V	COL9A1_ENST00000320755.7_Missense_Mutation_p.G550V|COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Missense_Mutation_p.G550V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	793	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GCCAGGCCTTCCAGGAAGCCC	0.567000													9	30					0.000274275	0.000333685	0.004482	1	0
MEN1	4221	broad.mit.edu	37	11	64575538	64575538	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:64575538G>T	ENST00000337652.1	-	3	997	c.494C>A	c.(493-495)gCt>gAt	p.A165D	MEN1_ENST00000377321.1_Missense_Mutation_p.A160D|MEN1_ENST00000394374.2_Missense_Mutation_p.A165D|MEN1_ENST00000394376.1_Missense_Mutation_p.A165D|MEN1_ENST00000377313.1_Missense_Mutation_p.A165D|MEN1_ENST00000315422.4_Missense_Mutation_p.A160D|MEN1_ENST00000443283.1_Missense_Mutation_p.A165D|MEN1_ENST00000312049.6_Missense_Mutation_p.A160D|MEN1_ENST00000377326.3_Missense_Mutation_p.A160D|MEN1_ENST00000377316.2_Missense_Mutation_p.A160D	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	165			A -> P (in MEN1; strong decrease in JUND- binding).|A -> T (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCCAACCACAGCAAAGGCCAC	0.602000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				8	9					1.12685e-05	1.48339e-05	0.004482	1	0
ARHGAP33	115703	broad.mit.edu	37	19	36279099	36279099	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:36279099G>A	ENST00000007510.4	+	21	3776	c.3632G>A	c.(3631-3633)cGg>cAg	p.R1211Q	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R1050Q|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R1047Q			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1211					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CAGAAACAACGGGCACCCTGG	0.697000													5	75					0	0	0.001168	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228319	74228319	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:74228319G>A	ENST00000316292.9	-	5	1778	c.787C>T	c.(787-789)Cct>Tct	p.P263S	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P263S|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P263S	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	263						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CGGCCAACAGGAACAGTACCA	0.413000											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	47					0	0	0.003080	0	0
PTH2R	5746	broad.mit.edu	37	2	209309504	209309504	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:209309504A>G	ENST00000272847.2	+	7	958	c.745A>G	c.(745-747)Aca>Gca	p.T249A	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	249						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CTTCCTGGCTACAAATTATTA	0.383000													9	120					0	0	0.006214	0	0
ZNF606	80095	broad.mit.edu	37	19	58490705	58490705	+	Missense_Mutation	SNP	C	C	G	rs138065835		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:58490705C>G	ENST00000341164.4	-	7	1963	c.1343G>C	c.(1342-1344)cGg>cCg	p.R448P	ZNF606_ENST00000536132.1_Missense_Mutation_p.R358P	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	448					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)		AGTGTGAGTCCGTTCATGTTT	0.353000													6	22					0	0	0.001168	0	0
INSC	387755	broad.mit.edu	37	11	15212246	15212246	+	Splice_Site	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:15212246G>T	ENST00000379554.3	+	6	766		c.e6-1		INSC_ENST00000379556.3_Splice_Site|INSC_ENST00000528567.1_Splice_Site|INSC_ENST00000424273.1_Splice_Site|INSC_ENST00000530161.1_Splice_Site|INSC_ENST00000447214.2_Splice_Site|INSC_ENST00000525218.1_Splice_Site	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)						cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCTCTTCTTAGGCACTGGTGA	0.512000													37	87					4.62619e-21	7.91384e-21	0.004289	1	0
AGBL1	123624	broad.mit.edu	37	15	86702217	86702217	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:86702217G>C	ENST00000441037.2	+	4	405	c.310G>C	c.(310-312)Gtt>Ctt	p.V104L	AGBL1_ENST00000421325.2_Missense_Mutation_p.V104L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	104					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCTTTTCAAGGTTATTACTCC	0.448000													27	72					0	0	0.004656	0	0
SMAD9	4093	broad.mit.edu	37	13	37427691	37427691	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr13:37427691C>A	ENST00000379826.4	-	6	1467	c.1125G>T	c.(1123-1125)aaG>aaT	p.K375N	SMAD9_ENST00000350148.5_Missense_Mutation_p.K338N|SMAD9_ENST00000399275.2_Missense_Mutation_p.K375N	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	375	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CGCTGGGGATCTTGCAGACGG	0.567000													13	34					4.3838e-07	6.15559e-07	0.001855	1	0
CCL23	6368	broad.mit.edu	37	17	34340812	34340812	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:34340812T>A	ENST00000293280.2	-	3	344	c.274A>T	c.(274-276)Aac>Tac	p.N92Y	CCL23_ENST00000591423.1_Missense_Mutation_p.N75Y	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	75					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	CACTCGCTGTTCGTTTCAAAG	0.522000													20	22					0	0	0.007413	0	0
ITGB8	3696	broad.mit.edu	37	7	20441744	20441744	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:20441744G>T	ENST00000222573.3	+	10	2366	c.1682G>T	c.(1681-1683)tGt>tTt	p.C561F	ITGB8_ENST00000537992.1_Missense_Mutation_p.C426F	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	561	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GGAAATCTGTGTGCTGGTGAG	0.333000													17	32					9.16793e-09	1.37928e-08	0.004990	1	0
MMP19	4327	broad.mit.edu	37	12	56236185	56236185	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:56236185A>G	ENST00000322569.4	-	2	216	c.125T>C	c.(124-126)cTa>cCa	p.L42P	MMP19_ENST00000409200.3_Missense_Mutation_p.L42P|MMP19_ENST00000548629.1_Missense_Mutation_p.L42P|MMP19_ENST00000547487.1_5'UTR	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	42					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AGATCCTTCTAGAGGCTTCTG	0.453000													7	110					0	0	0.004482	0	0
RAB6C	84084	broad.mit.edu	37	2	130738011	130738011	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:130738011T>C	ENST00000410061.2	+	1	777	c.323T>C	c.(322-324)aTt>aCt	p.I108T	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	108					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					ACAAAGTGGATTGATGATGTC	0.433000													21	196					0	0	0.006320	0	0
KMT2D	8085	broad.mit.edu	37	12	49444044	49444044	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:49444044G>A	ENST00000301067.7	-	11	3326	c.3327C>T	c.(3325-3327)gcC>gcT	p.A1109A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCAGGGCTGGGGCAGGGCTGG	0.622000													3	19					0	0	0.000248	0	0
EML5	161436	broad.mit.edu	37	14	89087624	89087624	+	Silent	SNP	T	T	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:89087624T>G	ENST00000554922.1	-	38	5283	c.5035A>C	c.(5035-5037)Agg>Cgg	p.R1679R	EML5_ENST00000553320.1_5'UTR|EML5_ENST00000380664.5_Silent_p.R1671R|EML5_ENST00000352093.5_Silent_p.R1633R	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1671						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCAGCATTCCTTGTCCCAACA	0.398000													51	73					0	0	0.003610	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38651210	38651210	+	RNA	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:38651210G>A	ENST00000494540.1	+	0	357					NR_003086.1																						TAAATGCTGGGATCATGCCTA	0.363000													14	33					0	0	0.002450	0	0
RYR2	6262	broad.mit.edu	37	1	237947539	237947539	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:237947539T>C	ENST00000366574.2	+	90	12844	c.12527T>C	c.(12526-12528)gTg>gCg	p.V4176A	RYR2_ENST00000542537.1_Missense_Mutation_p.V4160A|RYR2_ENST00000360064.6_Missense_Mutation_p.V4182A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4176					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATATTTGACGTGGTCAACGAA	0.502000													27	73					0	0	0.006320	0	0
RAD54B	25788	broad.mit.edu	37	8	95392404	95392404	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:95392404T>G	ENST00000336148.5	-	12	2340	c.2216A>C	c.(2215-2217)gAc>gCc	p.D739A		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CCAATCAATGTCATAGAGAAT	0.338000								Direct reversal of damage;Homologous recombination					17	26					0	0	0.004007	0	0
AMOT	154796	broad.mit.edu	37	X	112024174	112024174	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:112024174G>A	ENST00000371959.3	-	9	2412	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L	AMOT_ENST00000371958.1_Silent_p.L573L|AMOT_ENST00000371962.1_Silent_p.L573L|AMOT_ENST00000304758.1_Silent_p.L396L|AMOT_ENST00000524145.1_Silent_p.L805L	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	805					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GAGCCAGTCAGGGTGGATGAG	0.527000													5	83					0	0	0.000602	0	0
RYR3	6263	broad.mit.edu	37	15	33962744	33962744	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:33962744G>A	ENST00000389232.4	+	38	5917	c.5847G>A	c.(5845-5847)gaG>gaA	p.E1949E	RYR3_ENST00000415757.3_Silent_p.E1949E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1949	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGAGGAGGAGGAGAGATGCC	0.443000													23	55					0	0	0.003954	0	0
TARBP1	6894	broad.mit.edu	37	1	234606997	234606997	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:234606997C>T	ENST00000040877.1	-	3	1035	c.1036G>A	c.(1036-1038)Gtt>Att	p.V346I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	346					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGCTTTATAACATGTATCTAA	0.279000													7	10					0	0	0.004482	0	0
HBA2	3040	broad.mit.edu	37	16	223583	223583	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:223583C>T	ENST00000251595.6	+	3	479	c.413C>T	c.(412-414)aCc>aTc	p.T138I	HBA2_ENST00000397806.1_Missense_Mutation_p.T106I	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	138					hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	ACCGTGCTGACCTCCAAATAC	0.677000											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	28					0	0	0.008291	0	0
LILRA2	11027	broad.mit.edu	37	19	55085802	55085802	+	Silent	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:55085802A>T	ENST00000251377.3	+	4	238	c.105A>T	c.(103-105)ccA>ccT	p.P35P	LILRA2_ENST00000391737.1_Silent_p.P23P|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.P35P|LILRA2_ENST00000391738.3_Silent_p.P35P					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GGGCTGAGCCAGGCTCTGTGA	0.547000													6	126					0	0	0.001168	0	0
LOC100130700	100130700	broad.mit.edu	37	16	34739677	34739677	+	RNA	SNP	A	A	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:34739677A>C	ENST00000562591.1	-	0	245					NR_034019.1																						TGCTCCAAAGAGATGTCCCAC	0.403000													12	11					0	0	0.000978	0	0
C10orf76	79591	broad.mit.edu	37	10	103773783	103773783	+	Splice_Site	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:103773783T>A	ENST00000370033.4	-	9	789		c.e9-2			NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76							integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATTCACAGACTGTTAAATAAG	0.393000													5	65					0	0	0.000602	0	0
GRID1	2894	broad.mit.edu	37	10	87406989	87406989	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:87406989G>C	ENST00000327946.7	-	13	2248	c.2163C>G	c.(2161-2163)tgC>tgG	p.C721W	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.C292W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	721						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GACTGGACACGCAGTTGTCAG	0.617000										Multiple Myeloma(13;0.14)			62	214					0	0	0.003610	0	0
KCNB2	9312	broad.mit.edu	37	8	73849655	73849655	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:73849655A>T	ENST00000523207.1	+	3	2653	c.2065A>T	c.(2065-2067)Agt>Tgt	p.S689C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	689					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGGGCTACATAGTCCTTTGCA	0.512000													25	48					0	0	0.003954	0	0
PKP4	8502	broad.mit.edu	37	2	159533379	159533379	+	Splice_Site	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:159533379G>T	ENST00000389759.3	+	20	3368	c.3256_splice	c.e20+1	p.G1086_splice	PKP4_ENST00000389757.3_Intron|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1086					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCTGTACCCTGGTAAGACGCC	0.517000										HNSCC(62;0.18)			30	42					3.69857e-22	6.39188e-22	0.008361	1	0
SLC12A6	9990	broad.mit.edu	37	15	34546597	34546597	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:34546597G>A	ENST00000354181.3	-	9	1562	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	SLC12A6_ENST00000558589.1_Missense_Mutation_p.A348V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A357V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.A169V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A298V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A298V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A342V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A306V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A357V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A169V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	357					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGCATAGATGGCCAAGATGGA	0.458000													27	42					0	0	0.004656	0	0
TNS3	64759	broad.mit.edu	37	7	47436483	47436483	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:47436483T>C	ENST00000398879.1	-	16	1304	c.938A>G	c.(937-939)aAc>aGc	p.N313S	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.N313S			Q68CZ2	TENS3_HUMAN	tensin 3	313						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACCGTGGTCGTTGTACAAGTG	0.527000													6	85					0	0	0.001168	0	0
EPHB6	2051	broad.mit.edu	37	7	142561001	142561001	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:142561001G>T	ENST00000392957.2	+	5	803	c.16G>T	c.(16-18)Gct>Tct	p.A6S	EPHB6_ENST00000411471.2_Missense_Mutation_p.A6S|EPHB6_ENST00000442129.1_Missense_Mutation_p.A6S	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	6						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TACTGAAGGGGCTGCCCAGTT	0.607000													4	24					0.00024832	0.000303202	0.000248	1	0
PLCE1	51196	broad.mit.edu	37	10	95931199	95931199	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:95931199C>T	ENST00000260766.3	+	4	2389	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	PLCE1_ENST00000371385.3_Silent_p.T277T|PLCE1_ENST00000371380.2_Silent_p.T585T|PLCE1_ENST00000371375.1_Silent_p.T277T	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	585	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGATTCTTACCACTCAGAATG	0.483000													24	58					0	0	0.003330	0	0
CD1E	913	broad.mit.edu	37	1	158326382	158326382	+	Splice_Site	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:158326382G>C	ENST00000444681.2	+	4	994		c.e4+1		CD1E_ENST00000368157.1_Splice_Site|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368163.3_Splice_Site|CD1E_ENST00000368156.1_Splice_Site|CD1E_ENST00000368166.3_Splice_Site|CD1E_ENST00000368167.3_Splice_Site|CD1E_ENST00000368165.3_Splice_Site|CD1E_ENST00000368155.3_Splice_Site|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000452291.2_Splice_Site|CD1E_ENST00000368160.3_Splice_Site|CD1E_ENST00000368154.1_Splice_Site	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule						antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.?(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AAAAACAGAGGTGAGCTTTTT	0.368000													5	20					0	0	0.000602	0	0
RLF	6018	broad.mit.edu	37	1	40705790	40705790	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:40705790A>T	ENST00000372771.4	+	8	5443	c.5416A>T	c.(5416-5418)Aat>Tat	p.N1806Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1806					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ACAGTCCAGTAATGATTTAAC	0.353000													6	35					0	0	0.001168	0	0
CNOT3	4849	broad.mit.edu	37	19	54656017	54656017	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:54656017T>C	ENST00000406403.1	+	13	3263	c.1660T>C	c.(1660-1662)Tct>Cct	p.S554P	CNOT3_ENST00000358389.3_Missense_Mutation_p.S373P|CNOT3_ENST00000221232.5_Missense_Mutation_p.S554P|CNOT3_ENST00000496327.1_3'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	554	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCCATCAGCTCTGGCATTGA	0.652000													22	49					0	0	0.001882	0	0
PLXDC1	57125	broad.mit.edu	37	17	37296019	37296019	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:37296019G>C	ENST00000315392.4	-	2	354	c.143C>G	c.(142-144)gCc>gGc	p.A48G	PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000394316.2_Missense_Mutation_p.A48G	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	48					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCTCTCTCGGGCTCTCCGGTT	0.662000													33	38					0	0	0.003755	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391157	139391157	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:139391157C>A	ENST00000277541.6	-	34	7109	c.7034G>T	c.(7033-7035)gGc>gTc	p.G2345V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2345					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCTACCATGCCATGCTGCAG	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	71					2.17888e-05	2.8026e-05	0.006214	1	0
OAS2	4939	broad.mit.edu	37	12	113445593	113445593	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:113445593G>T	ENST00000392583.2	+	9	1947	c.1740G>T	c.(1738-1740)ggG>ggT	p.G580G	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.G580G	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	580	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGGAGCAGGGGAGTGGAGTGC	0.517000													8	126					1.12685e-05	1.48339e-05	0.004482	1	0
ATP13A5	344905	broad.mit.edu	37	3	193082037	193082037	+	Silent	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:193082037C>G	ENST00000342358.4	-	2	213	c.96G>C	c.(94-96)cgG>cgC	p.R32R		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	32					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGAAGGCTTTCCGTACATTGT	0.463000													28	113					0	0	0.008361	0	0
TMEM81	388730	broad.mit.edu	37	1	205053413	205053413	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:205053413G>C	ENST00000367167.3	-	1	232	c.36C>G	c.(34-36)agC>agG	p.S12R		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	12						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCAACCCCAGGCTCCCAAGGA	0.507000													18	70					0	0	0.008871	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921352	78921352	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:78921352C>T	ENST00000261751.3	-	5	1406	c.1295G>A	c.(1294-1296)aGc>aAc	p.S432N	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	432					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGCGATGAAGCTGACACCTTC	0.572000													14	39					0	0	0.001855	0	0
FAT1	2195	broad.mit.edu	37	4	187524999	187524999	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:187524999C>A	ENST00000441802.2	-	19	10890	c.10681G>T	c.(10681-10683)Ggt>Tgt	p.G3561C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3561	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGACGCCACCTGAGTATTCT	0.473000										HNSCC(5;0.00058)			12	32					5.50884e-06	7.39633e-06	0.001368	1	0
LCE2B	26239	broad.mit.edu	37	1	152659578	152659578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:152659578C>T	ENST00000368780.3	+	2	313	c.259C>T	c.(259-261)Cag>Tag	p.Q87*	LCE2B_ENST00000417924.2_Nonsense_Mutation_p.Q87*	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	87	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCCGGCACCAGAGCCCCGA	0.667000													45	116					0	0	0.008740	0	0
SLC7A8	23428	broad.mit.edu	37	14	23598917	23598917	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:23598917G>A	ENST00000316902.7	-	9	1930	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	SLC7A8_ENST00000422941.2_Missense_Mutation_p.T178M|SLC7A8_ENST00000529705.2_Missense_Mutation_p.T297M|SLC7A8_ENST00000453702.1_Missense_Mutation_p.T199M|SLC7A8_ENST00000469263.1_Intron	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	402					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TCCAGCAACCGTGACCCCATA	0.542000													22	149					0	0	0.002780	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563531	140563531	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:140563531C>A	ENST00000361016.2	+	1	2552	c.1397C>A	c.(1396-1398)cCc>cAc	p.P466H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		466	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAACAGCCCCGCCCTGCAC	0.607000													17	178					1.99824e-07	2.84137e-07	0.004990	1	0
SHANK3	85358	broad.mit.edu	37	22	51160827	51160827	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:51160827G>T	ENST00000414786.2	+	21	4751	c.4524G>T	c.(4522-4524)ctG>ctT	p.L1508L	SHANK3_ENST00000262795.3_Silent_p.L1538L|SHANK3_ENST00000445220.2_Silent_p.L1524L			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1538										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGGGCAGCCTGCTGGACCCTG	0.642000													12	24					3.07112e-06	4.19015e-06	0.000978	1	0
CENPE	1062	broad.mit.edu	37	4	104116363	104116363	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:104116363C>A	ENST00000265148.3	-	5	474	c.385G>T	c.(385-387)Gta>Tta	p.V129L	CENPE_ENST00000380026.3_Missense_Mutation_p.V129L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	129	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATGTAAGATACACGTAAGAGA	0.318000													10	14					2.17888e-05	2.8026e-05	0.006214	1	0
CAND2	23066	broad.mit.edu	37	3	12856747	12856747	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:12856747G>C	ENST00000456430.2	+	8	1155	c.1114G>C	c.(1114-1116)Gat>Cat	p.D372H	CAND2_ENST00000295989.5_Missense_Mutation_p.D279H	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	372					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTGCTGCCCGATTTCCACTG	0.602000													6	53					0	0	0.001168	0	0
HSPA5	3309	broad.mit.edu	37	9	128000949	128000949	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:128000949G>C	ENST00000324460.6	-	6	1357	c.1154C>G	c.(1153-1155)tCc>tGc	p.S385C		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	385					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TATGCCACGGGATGGTTCCTT	0.463000										Prostate(1;0.17)			26	17					0	0	0.003954	0	0
EYA3	2140	broad.mit.edu	37	1	28316211	28316211	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:28316211G>C	ENST00000373871.3	-	15	1655	c.1415C>G	c.(1414-1416)tCc>tGc	p.S472C	EYA3_ENST00000373863.3_Missense_Mutation_p.S426C|EYA3_ENST00000373864.1_Missense_Mutation_p.S315C|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.S419C|EYA3_ENST00000540618.1_Missense_Mutation_p.S426C|EYA3_ENST00000436342.2_Missense_Mutation_p.S346C			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	472					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)		TCCATACCTGGACTGGATGAG	0.423000													43	65					0	0	0.003610	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634870	70634870	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:70634870C>T	ENST00000381269.2	-	2	1023	c.270G>A	c.(268-270)ggG>ggA	p.G90G	SLC8A3_ENST00000528359.1_Silent_p.G90G|SLC8A3_ENST00000356921.2_Silent_p.G90G|SLC8A3_ENST00000357887.3_Silent_p.G90G|SLC8A3_ENST00000534137.1_Silent_p.G90G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	90					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGATGGACACCCCAAGGAACA	0.488000													4	41					0	0	0.000248	0	0
SORBS2	8470	broad.mit.edu	37	4	186544274	186544274	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:186544274G>A	ENST00000431808.1	-	14	2860	c.2297C>T	c.(2296-2298)cCa>cTa	p.P766L	SORBS2_ENST00000284776.7_Missense_Mutation_p.P766L|SORBS2_ENST00000355634.5_Missense_Mutation_p.P866L|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P670L|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	766						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGGAACATCTGGCAGCAGCTC	0.557000													9	167					0	0	0.006214	0	0
DCHS1	8642	broad.mit.edu	37	11	6648581	6648581	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:6648581C>A	ENST00000299441.3	-	14	6100	c.5689G>T	c.(5689-5691)Ggt>Tgt	p.G1897C		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1897	Cadherin 18.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGCTGTACCGGCGCCCAGG	0.607000													5	10					0.000602214	0.000719668	0.000602	1	0
FAT3	120114	broad.mit.edu	37	11	92534237	92534237	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:92534237A>G	ENST00000298047.6	+	9	8075	c.8058A>G	c.(8056-8058)ccA>ccG	p.P2686P	FAT3_ENST00000409404.2_Silent_p.P2686P|FAT3_ENST00000525166.1_Silent_p.P2536P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2686	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGGCATCCCAGTAAAGCACT	0.458000										TCGA Ovarian(4;0.039)			3	31					0	0	0.004672	0	0
SHOX	6473	broad.mit.edu	37	X	595382	595382	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:595382G>A	ENST00000381578.1	+	3	998	c.307G>A	c.(307-309)Gac>Aac	p.D103N	SHOX_ENST00000334060.3_Missense_Mutation_p.D103N|SHOX_ENST00000381575.1_Missense_Mutation_p.D103N|SHOX_ENST00000554971.1_Missense_Mutation_p.D103N	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	103					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGCGCGAGGACGTGAAGTC	0.622000													16	25					0	0	0.008871	0	0
RBBP8	5932	broad.mit.edu	37	18	20572830	20572830	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr18:20572830C>T	ENST00000399722.2	+	11	1391	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	RBBP8_ENST00000360790.5_Missense_Mutation_p.S347F|RBBP8_ENST00000327155.5_Missense_Mutation_p.S347F|RBBP8_ENST00000399725.2_Missense_Mutation_p.S347F	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	347					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ACAAGTTTGTCCCCTTCTCTT	0.358000								Homologous recombination					15	40					0	0	0.004007	0	0
EIF1AX	1964	broad.mit.edu	37	X	20148716	20148716	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:20148716T>C	ENST00000379607.5	-	6	550	c.347A>G	c.(346-348)aAt>aGt	p.N116S	EIF1AX_ENST00000379593.1_Missense_Mutation_p.N88S	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	116						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATCAGTTTCATTGATTTTAGC	0.328000													14	4					0	0	0.002450	0	0
PHGDH	26227	broad.mit.edu	37	1	120266064	120266064	+	Splice_Site	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:120266064G>T	ENST00000369407.3	+	2	1761	c.254_splice	c.e2+1	p.R85_splice	PHGDH_ENST00000369409.4_Splice_Site_p.R119_splice			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	119					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TGCCTGGCCAGGTAAGTCCCT	0.473000													22	39					8.04996e-18	1.34967e-17	0.001882	1	0
SLC39A12	221074	broad.mit.edu	37	10	18266839	18266839	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:18266839C>A	ENST00000377369.2	+	5	1033	c.760C>A	c.(760-762)Caa>Aaa	p.Q254K	SLC39A12_ENST00000539911.1_Missense_Mutation_p.Q120K|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Q254K|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Q254K	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	254					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AGAACTAGACCAACTCCTCAA	0.338000													25	100					1.5548e-18	2.61984e-18	0.005443	1	0
CHCHD6	84303	broad.mit.edu	37	3	126423156	126423156	+	Translation_Start_Site	SNP	A	A	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:126423156A>C	ENST00000508789.1	+	1	73	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	CHCHD6_ENST00000290913.3_Start_Codon_SNP_p.M1L			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	1										endometrium(2)|large_intestine(3)|lung(3)	8						GCATCTCGCCATGGGGAGCAC	0.731000													4	12					0	0	0.000248	0	0
KMT2C	58508	broad.mit.edu	37	7	151970862	151970862	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:151970862C>A	ENST00000355193.2	-	7	1158	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	KMT2C_ENST00000262189.6_Missense_Mutation_p.A314S					lysine (K)-specific methyltransferase 2C																		AAGGTGCCGGCTCCTGCAGCA	0.438000													6	153					3.59834e-05	4.59333e-05	0.001168	1	0
MROH9	80133	broad.mit.edu	37	1	170955788	170955788	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:170955788C>A	ENST00000367759.4	+	10	970	c.816C>A	c.(814-816)atC>atA	p.I272I	MROH9_ENST00000367758.3_Silent_p.I272I	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.I272I(1)									ATGATAAAATCGCATCTGATG	0.453000													22	55					4.35082e-09	6.6345e-09	0.001523	1	0
SSH1	54434	broad.mit.edu	37	12	109182463	109182463	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:109182463C>T	ENST00000326495.5	-	15	2544	c.2451G>A	c.(2449-2451)caG>caA	p.Q817Q	SSH1_ENST00000360239.3_Silent_p.Q505Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	817					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCTGCCTTCTGCAGCTGAA	0.587000													10	71					0	0	0.008291	0	0
SEMG2	6407	broad.mit.edu	37	20	43850431	43850431	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:43850431A>G	ENST00000372769.3	+	2	248	c.158A>G	c.(157-159)gAc>gGc	p.D53G		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	53					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GGACAAAAAGACCAACAACAT	0.388000													16	37					0	0	0.003163	0	0
NTF3	4908	broad.mit.edu	37	12	5604005	5604005	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:5604005G>T	ENST00000423158.3	+	2	876	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.D209Y	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	209					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CAGGGGTATTGATGATAAACA	0.488000													4	54					0.000602214	0.000719668	0.000602	1	0
USP26	83844	broad.mit.edu	37	X	132160640	132160640	+	Missense_Mutation	SNP	G	G	T	rs144039408		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:132160640G>T	ENST00000511190.1	-	6	2078	c.1609C>A	c.(1609-1611)Cag>Aag	p.Q537K	USP26_ENST00000370832.1_Missense_Mutation_p.Q537K|USP26_ENST00000406273.1_Missense_Mutation_p.Q537K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	537					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATGACTTCCTGGTCATTCTTC	0.403000													42	36					9.73076e-26	1.72593e-25	0.006999	1	0
DLGAP3	58512	broad.mit.edu	37	1	35370403	35370403	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:35370403G>T	ENST00000373347.1	-	3	850	c.582C>A	c.(580-582)gaC>gaA	p.D194E	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D194E			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	194					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCCATTATAGTCCCGCTTCC	0.647000													18	22					2.94398e-08	4.35141e-08	0.007413	1	0
MYH7	4625	broad.mit.edu	37	14	23884616	23884616	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:23884616C>A	ENST00000355349.3	-	36	5419	c.5257G>T	c.(5257-5259)Gag>Tag	p.E1753*	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1753			E -> K (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGGCCTTCTCCTCAGCATTC	0.577000													51	81					3.10996e-30	5.57477e-30	0.003610	1	0
NCAPD2	9918	broad.mit.edu	37	12	6624087	6624087	+	Splice_Site	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:6624087G>A	ENST00000315579.5	+	9	1786		c.e9+1		NCAPD2_ENST00000545962.1_Splice_Site	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2						cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGATGGAGAAGTAGGTGGTCC	0.458000													29	49					0	0	0.002445	0	0
DNAH14	127602	broad.mit.edu	37	1	225155417	225155417	+	Nonstop_Mutation	SNP	A	A	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:225155417A>C	ENST00000366850.3	+	7	895	c.687A>C	c.(685-687)taA>taC	p.*229Y	DNAH14_ENST00000439375.2_Intron|DNAH14_ENST00000366848.1_Nonstop_Mutation_p.*229Y|DNAH14_ENST00000430092.1_Intron|DNAH14_ENST00000366849.1_Intron|DNAH14_ENST00000400952.3_Intron	NM_144989.2	NP_659426.2	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	0					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TTTATATATAAGAATCTCCTT	0.264000													8	23					0	0	0.004482	0	0
FAM71B	153745	broad.mit.edu	37	5	156589500	156589500	+	Silent	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:156589500G>C	ENST00000302938.4	-	2	1871	c.1776C>G	c.(1774-1776)tcC>tcG	p.S592S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	592						nucleus		p.S592S(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGTCTTCTCGGATGTCATAG	0.512000													78	187					0	0	0.003610	0	0
UNC93A	54346	broad.mit.edu	37	6	167721398	167721398	+	Splice_Site	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:167721398G>T	ENST00000230256.3	+	7	1283	c.1108_splice	c.e7+1	p.A370_splice	UNC93A_ENST00000366829.2_Splice_Site_p.A328_splice	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	370						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACAAAACAATGGTGAGTCCCC	0.612000													11	28					4.68919e-08	6.84094e-08	0.008291	1	0
MAP3K8	1326	broad.mit.edu	37	10	30728114	30728114	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:30728114G>T	ENST00000263056.1	+	3	943	c.247G>T	c.(247-249)Gat>Tat	p.D83Y	MAP3K8_ENST00000375322.2_Missense_Mutation_p.D83Y|MAP3K8_ENST00000542547.1_Missense_Mutation_p.D83Y|MAP3K8_ENST00000375321.1_Missense_Mutation_p.D83Y	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	83					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AACTGTGGAGGATTTGCTTGC	0.408000													19	46					5.26018e-13	8.5225e-13	0.001882	1	0
SLC11A1	6556	broad.mit.edu	37	2	219249930	219249930	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:219249930C>T	ENST00000233202.6	+	4	674	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	112					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGGCTGCACGTCTGGGCGT	0.642000													7	114					0	0	0.001984	0	0
GABPB1	2553	broad.mit.edu	37	15	50595319	50595319	+	Splice_Site	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:50595319T>C	ENST00000380877.3	-	4	701	c.276_splice	c.e4-1	p.H93_splice	GABPB1_ENST00000220429.8_Splice_Site_p.H93_splice|GABPB1_ENST00000396464.3_Splice_Site_p.H93_splice|GABPB1_ENST00000560825.1_Splice_Site_p.H93_splice|GABPB1_ENST00000429662.2_Splice_Site_p.H93_splice|GABPB1_ENST00000359031.4_Splice_Site_p.H93_splice|GABPB1_ENST00000543881.1_Splice_Site_p.H17_splice	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	93					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ATCAGCACCATGCTACAAAAA	0.318000													17	16					0	0	0.006122	0	0
FRMPD2	143162	broad.mit.edu	37	10	49452849	49452849	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:49452849C>A	ENST00000374201.3	-	4	655	c.353G>T	c.(352-354)gGg>gTg	p.G118V	FRMPD2_ENST00000305531.3_Intron|FRMPD2_ENST00000407470.4_Intron	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	118	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AACATGAAACCCTGCTGACCA	0.453000													13	19					1.61879e-10	2.52561e-10	0.001368	1	0
LOC102723335	102723335	broad.mit.edu	37	15	101098995	101098995	+	RNA	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:101098995C>A	ENST00000559349.1	+	0	114				RP11-526I2.1_ENST00000557839.1_RNA																							TCCCAGTGCCCACGGTGGCCA	0.667000													6	18					0.00307968	0.00354216	0.003080	1	0
CLIP3	25999	broad.mit.edu	37	19	36508329	36508329	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:36508329G>T	ENST00000360535.4	-	12	1702	c.1475C>A	c.(1474-1476)cCc>cAc	p.P492H	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.P492H	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	492	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTGTCCCCGGGGGAATCAGT	0.572000													5	75					0.000602214	0.000719668	0.000602	1	0
MYH2	4620	broad.mit.edu	37	17	10427153	10427153	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:10427153G>T	ENST00000245503.5	-	36	5608	c.5224C>A	c.(5224-5226)Caa>Aaa	p.Q1742K	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1742K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1742					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						CCTTGCATTTGGGAAATATCT	0.423000													5	79					0.00116845	0.00137201	0.001168	1	0
NLRP12	91662	broad.mit.edu	37	19	54312855	54312855	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:54312855C>A	ENST00000324134.6	-	3	2226	c.2058G>T	c.(2056-2058)acG>acT	p.T686T	NLRP12_ENST00000345770.5_Silent_p.T686T|NLRP12_ENST00000391775.3_Silent_p.T686T|NLRP12_ENST00000391773.1_Silent_p.T686T|NLRP12_ENST00000535162.1_Silent_p.T686T|NLRP12_ENST00000391772.1_Silent_p.T686T|NLRP12_ENST00000354278.3_Silent_p.T686T|NLRP12_ENST00000351894.4_Silent_p.T686T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	686					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCACCAACAGCGTGTGCGCTC	0.567000													6	21					8.12818e-05	0.000100706	0.001984	1	0
CDH12	1010	broad.mit.edu	37	5	21751882	21751882	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:21751882G>A	ENST00000382254.1	-	15	3435	c.2349C>T	c.(2347-2349)ggC>ggT	p.G783G	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Silent_p.G743G|CDH12_ENST00000504376.2_Silent_p.G783G	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	783					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTCTTCTTCGCCAAACATGT	0.448000										HNSCC(59;0.17)			6	84					0	0	0.001984	0	0
FAM129C	199786	broad.mit.edu	37	19	17653058	17653058	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:17653058G>T	ENST00000335393.4	+	11	1515	c.1377G>T	c.(1375-1377)ctG>ctT	p.L459L	FAM129C_ENST00000599164.1_Silent_p.L428L|FAM129C_ENST00000599124.1_Silent_p.L428L|FAM129C_ENST00000601861.1_Silent_p.L428L|FAM129C_ENST00000600871.1_Silent_p.L405L|FAM129C_ENST00000352727.3_Silent_p.L459L|FAM129C_ENST00000300971.2_Silent_p.L459L|FAM129C_ENST00000449408.2_Silent_p.L185L|FAM129C_ENST00000595684.1_Silent_p.L459L|FAM129C_ENST00000332386.5_Silent_p.L459L	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	459										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TTGGCTTTCTGGGGATGCAGA	0.642000													14	130					1.49906e-05	1.94301e-05	0.002450	1	0
KIAA0100	9703	broad.mit.edu	37	17	26966412	26966412	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:26966412C>T	ENST00000528896.2	-	11	1224	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	KIAA0100_ENST00000544884.1_Missense_Mutation_p.E241K|KIAA0100_ENST00000389003.3_Missense_Mutation_p.E241K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	384						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)					TGAGAGAATTCCTGGTGCCGG	0.478000													20	31					0	0	0.007413	0	0
PAQR5	54852	broad.mit.edu	37	15	69692415	69692415	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:69692415C>T	ENST00000340965.3	+	8	1380	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	PAQR5_ENST00000395407.2_Silent_p.L238L|PAQR5_ENST00000561153.1_Silent_p.L238L|RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	238					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CTCTGCACATCTGCCAGAACG	0.567000													19	136					0	0	0.007413	0	0
PTPRH	5794	broad.mit.edu	37	19	55713663	55713663	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:55713663A>G	ENST00000376350.3	-	6	936	c.914T>C	c.(913-915)gTg>gCg	p.V305A	PTPRH_ENST00000263434.5_Missense_Mutation_p.V127A|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	305	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGAGCCTCCACTGTCAGGTT	0.552000													16	43					0	0	0.004990	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593728	16593728	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:16593728G>T	ENST00000443444.2	+	1	154	c.14G>T	c.(13-15)gGt>gTt	p.G5V	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G5V|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G5V|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G5V|CCDC144A_ENST00000456009.1_Missense_Mutation_p.G5V|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G5V			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	5																	GCCTCCTGGGGTGGAGAAAAG	0.642000													5	15					5.9392e-07	8.30502e-07	0.001168	1	0
SNX19	399979	broad.mit.edu	37	11	130784585	130784585	+	Missense_Mutation	SNP	T	T	A	rs138524806	byFrequency	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:130784585T>A	ENST00000265909.4	-	1	1819	c.1250A>T	c.(1249-1251)gAg>gTg	p.E417V	SNX19_ENST00000533214.1_Missense_Mutation_p.E417V|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	417					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TTCAGATGCCTCACCATCTTT	0.552000													11	17					0	0	0.000978	0	0
MED16	10025	broad.mit.edu	37	19	886117	886117	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:886117C>A	ENST00000312090.6	-	5	682	c.532G>T	c.(532-534)Ggc>Tgc	p.G178C	MED16_ENST00000269814.4_Missense_Mutation_p.G178C|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.G178C|MED16_ENST00000325464.1_Missense_Mutation_p.G178C|MED16_ENST00000589119.1_Missense_Mutation_p.G178C			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	178					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		GCGATCCAGCCCTCCATGGGC	0.682000													3	11					6.4e-05	7.96043e-05	0.004672	1	0
PRODH	5625	broad.mit.edu	37	22	18918540	18918540	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:18918540C>A	ENST00000357068.6	-	2	710	c.445G>T	c.(445-447)Gac>Tac	p.D149Y	PRODH_ENST00000420436.1_Missense_Mutation_p.D41Y|PRODH_ENST00000334029.2_Missense_Mutation_p.D41Y	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	149					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GGGCTCAGGTCCTCCTCCACT	0.627000													20	45					1.9806e-07	2.82823e-07	0.002299	1	0
KDM5B	10765	broad.mit.edu	37	1	202702680	202702680	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:202702680C>T	ENST00000367265.3	-	23	4922	c.3758G>A	c.(3757-3759)cGa>cAa	p.R1253Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1289Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1253					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.R1253Q(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AATCATATATCGAAGTGCATC	0.507000													7	85					0	0	0.001984	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146070757	146070757	+	Silent	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:146070757T>A	ENST00000394413.3	-	4	951	c.381A>T	c.(379-381)ccA>ccT	p.P127P	PPP2R2B_ENST00000394411.4_Silent_p.P127P|PPP2R2B_ENST00000394414.1_Silent_p.P193P|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Silent_p.P127P|PPP2R2B_ENST00000508545.2_Silent_p.P116P|PPP2R2B_ENST00000504198.1_Silent_p.P133P|PPP2R2B_ENST00000453001.1_Silent_p.P127P|PPP2R2B_ENST00000394410.2_Silent_p.P116P|PPP2R2B_ENST00000336640.6_Silent_p.P130P|PPP2R2B_ENST00000394409.3_Silent_p.P185P			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	127					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTAGCCTTCTGGCCTCTTAT	0.517000													31	58					0	0	0.002836	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37756794	37756794	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:37756794C>A	ENST00000330843.4	-	1	178	c.166G>T	c.(166-168)Gtg>Ttg	p.V56L	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.V56L	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	56	C2.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CGCTCCGACACGGAGGTGGCG	0.751000													9	27					0.00448238	0.00513797	0.004482	1	0
MYH3	4621	broad.mit.edu	37	17	10536009	10536009	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:10536009C>A	ENST00000583535.1	-	34	4827	c.4740G>T	c.(4738-4740)aaG>aaT	p.K1580N	MYH3_ENST00000226209.7_Missense_Mutation_p.K1580N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1580					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTCTTCATCCTTCTCGGCGA	0.498000													13	216					5.50884e-06	7.39633e-06	0.001368	1	0
LELP1	149018	broad.mit.edu	37	1	153177365	153177365	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:153177365G>A	ENST00000368747.1	+	2	292	c.182G>A	c.(181-183)tGc>tAc	p.C61Y		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	61	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCTGCCCTGCCCCTCGCAG	0.592000													25	46					0	0	0.003954	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	8					5.4927e-09	8.33802e-09	0.004482	1	0
POM121L12	285877	broad.mit.edu	37	7	53103449	53103449	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:53103449C>A	ENST00000408890.4	+	1	101	c.85C>A	c.(85-87)Ctg>Atg	p.L29M		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	29										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCGACGCCCTGGCGGCTCC	0.701000													12	27					6.40141e-05	7.96043e-05	0.000978	1	0
APOL5	80831	broad.mit.edu	37	22	36122751	36122751	+	Silent	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:36122751T>C	ENST00000249044.2	+	3	636	c.636T>C	c.(634-636)caT>caC	p.H212H		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	212					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CAACATCACATGAGGCTTTCG	0.448000													39	116					0	0	0.005524	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501863	45501863	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:45501863C>A	ENST00000359600.5	-	9	2208	c.2003G>T	c.(2002-2004)gGc>gTc	p.G668V		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	668							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTGACCCAGGCCCATCAGTGC	0.567000													24	36					7.87624e-14	1.28849e-13	0.002780	1	0
HOXA10	3206	broad.mit.edu	37	7	27213368	27213368	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:27213368G>T	ENST00000283921.4	-	1	557	c.558C>A	c.(556-558)gcC>gcA	p.A186A	RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	186					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						GAGCCAGTTCGGCGGCGGTGG	0.672000													6	12					0.00116845	0.00137201	0.001168	1	0
DST	667	broad.mit.edu	37	6	56483722	56483722	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:56483722G>C	ENST00000370765.6	-	23	5217	c.5110C>G	c.(5110-5112)Cta>Gta	p.L1704V	DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1067					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)			GCTTGTTGTAGCTGAACTTTC	0.408000													40	72					0	0	0.005524	0	0
COL4A6	1288	broad.mit.edu	37	X	107418907	107418907	+	Missense_Mutation	SNP	C	C	A	rs140519216	byFrequency	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:107418907C>A	ENST00000334504.7	-	29	3040	c.2807G>T	c.(2806-2808)cGt>cTt	p.R936L	COL4A6_ENST00000394872.2_Missense_Mutation_p.R937L|COL4A6_ENST00000545689.1_Missense_Mutation_p.R936L|COL4A6_ENST00000372216.4_Missense_Mutation_p.R937L|COL4A6_ENST00000538570.1_Missense_Mutation_p.R936L	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	937	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.R936L(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGTACCAGCACGTCCAGATGG	0.428000									Alport syndrome with Diffuse Leiomyomatosis				41	7					7.05121e-23	1.22488e-22	0.002522	1	0
TMEM168	64418	broad.mit.edu	37	7	112407566	112407566	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:112407566C>G	ENST00000312814.5	-	5	2340	c.1780G>C	c.(1780-1782)Gaa>Caa	p.E594Q	TMEM168_ENST00000454074.1_Missense_Mutation_p.E594Q	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	594						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CAGTTATATTCTACCCAGTCT	0.433000													13	29					0	0	0.002450	0	0
UNC5C	8633	broad.mit.edu	37	4	96163625	96163625	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:96163625G>T	ENST00000453304.1	-	7	1411	c.1063C>A	c.(1063-1065)Ctc>Atc	p.L355I	UNC5C_ENST00000506749.1_Missense_Mutation_p.L355I	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	355	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGCAAGACGAGGCCGTCGCAG	0.542000													8	15					1.06961e-07	1.54043e-07	0.003080	1	0
RALGPS2	55103	broad.mit.edu	37	1	178861370	178861370	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:178861370G>T	ENST00000367635.3	+	15	1591	c.1253G>T	c.(1252-1254)aGa>aTa	p.R418I	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Missense_Mutation_p.R383I|RALGPS2_ENST00000477383.1_Intron	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	418					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AACAGGAACAGATTATACCAT	0.393000													11	28					3.07112e-06	4.19015e-06	0.000978	1	0
DST	667	broad.mit.edu	37	6	56501375	56501375	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:56501375C>T	ENST00000370754.5	-	22	2940	c.2941G>A	c.(2941-2943)Gag>Aag	p.E981K	DST_ENST00000370765.6_Missense_Mutation_p.E477K|DST_ENST00000370769.4_Missense_Mutation_p.E803K|DST_ENST00000446842.2_Missense_Mutation_p.E477K|DST_ENST00000312431.6_Missense_Mutation_p.E803K|DST_ENST00000361203.3_Missense_Mutation_p.E803K|DST_ENST00000244364.6_Missense_Mutation_p.E477K|DST_ENST00000370788.2_Missense_Mutation_p.E803K|DST_ENST00000421834.2_Missense_Mutation_p.E803K|DST_ENST00000518935.1_Missense_Mutation_p.E477K			Q03001	DYST_HUMAN	dystonin	803					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)			GCTGTGTTCTCCTTTATGTGC	0.418000													5	93					0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	216390757	216390757	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:216390757A>T	ENST00000366943.2	-	15	3515	c.3129T>A	c.(3127-3129)gaT>gaA	p.D1043E	USH2A_ENST00000366942.3_Missense_Mutation_p.D1043E|USH2A_ENST00000307340.3_Missense_Mutation_p.D1043E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1043	Laminin EGF-like 10.				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)		GATTGTTGACATCCAAGTGGC	0.448000										HNSCC(13;0.011)			9	22					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179578033	179578033	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:179578033A>G	ENST00000589042.1	-	93	27052	c.26828T>C	c.(26827-26829)gTt>gCt	p.V8943A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V8626A|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7699A|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8626	Ig-like 72.						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)			CTCCATTACAACTGAGGAGCC	0.418000													4	11					0	0	0.000248	0	0
RNF113B	140432	broad.mit.edu	37	13	98829015	98829015	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr13:98829015G>C	ENST00000267291.6	-	1	504	c.476C>G	c.(475-477)cCc>cGc	p.P159R	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	159							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CGTGTCCTTGGGCTTCAGGTA	0.647000													19	54					0	0	0.006122	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169149	32169149	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:32169149G>A	ENST00000375023.3	-	22	4022	c.3884C>T	c.(3883-3885)cCc>cTc	p.P1295L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1295					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCCAGGGAGGGCCCCCACTC	0.642000													13	28					0	0	0.001368	0	0
SI	6476	broad.mit.edu	37	3	164732923	164732923	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:164732923A>G	ENST00000264382.3	-	33	4049	c.3987T>C	c.(3985-3987)atT>atC	p.I1329I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1329	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTGCCCAACAAATGTCATTGG	0.318000										HNSCC(35;0.089)			12	16					0	0	0.002450	0	0
XYLT1	64131	broad.mit.edu	37	16	17294340	17294340	+	Splice_Site	SNP	T	T	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:17294340T>G	ENST00000261381.6	-	4	1169	c.1086_splice	c.e4+1	p.K362_splice		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	362					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCTCTCACCTTGTCCACGTG	0.582000													6	89					0	0	0.001168	0	0
ANAPC5	51433	broad.mit.edu	37	12	121758194	121758194	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:121758194G>A	ENST00000261819.3	-	12	1630	c.1509C>T	c.(1507-1509)caC>caT	p.H503H	ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000441917.2_Silent_p.H391H|ANAPC5_ENST00000541887.1_Silent_p.H490H|ANAPC5_ENST00000535482.1_Silent_p.H169H|ANAPC5_ENST00000344395.4_Silent_p.H391H	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	503					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(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTACCTGGGCGTGCTGACTAT	0.368000													6	44					0	0	0.001984	0	0
PHIP	55023	broad.mit.edu	37	6	79735767	79735767	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:79735767T>C	ENST00000275034.4	-	8	882	c.715A>G	c.(715-717)Atg>Gtg	p.M239V		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	239					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GCTGCTATCATGGTATTCTCA	0.433000													21	43					0	0	0.001523	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267540	79267540	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:79267540G>C	ENST00000428286.1	-	11	8539	c.7339C>G	c.(7339-7341)Cca>Gca	p.P2447A	PRUNE2_ENST00000443509.2_Missense_Mutation_p.P55A|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000223609.6_Missense_Mutation_p.P70A|PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2806A			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2806					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGATATTTGGGGCTGTGAGC	0.393000													57	73					0	0	0.003610	0	0
ZNF761	388561	broad.mit.edu	37	19	53950521	53950521	+	RNA	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:53950521G>C	ENST00000454407.1	+	0	453							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGGAGTCAGGGATGGCTTTTT	0.433000													18	51					0	0	0.007413	0	0
IFNL3	282617	broad.mit.edu	37	19	39734506	39734506	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:39734506G>T	ENST00000413851.2	-	4	488	c.450C>A	c.(448-450)cgC>cgA	p.R150R		NM_172139.2	NP_742151.2			interferon, lambda 3																		AATGGTGGAGGCGGCCCCGGG	0.692000													22	91					2.98393e-07	4.22515e-07	0.002780	1	0
SIRPD	128646	broad.mit.edu	37	20	1532360	1532360	+	Missense_Mutation	SNP	C	C	A	rs141059543		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:1532360C>A	ENST00000381623.3	-	2	1587	c.398G>T	c.(397-399)cGg>cTg	p.R133L	SIRPD_ENST00000381621.1_Missense_Mutation_p.R133L			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	133	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CTGAGTGCCCCGACCTGATTG	0.443000													16	34					1.3612e-06	1.87235e-06	0.003163	1	0
NUP107	57122	broad.mit.edu	37	12	69115750	69115750	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:69115750G>C	ENST00000229179.4	+	16	1773	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q	NUP107_ENST00000539906.1_Missense_Mutation_p.E452Q|NUP107_ENST00000378905.2_Missense_Mutation_p.E330Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	481					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACTCCCTAGAGAATATCTGGG	0.428000													25	34					0	0	0.004656	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968469	99968469	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:99968469G>T	ENST00000298999.3	+	5	901	c.598G>T	c.(598-600)Gac>Tac	p.D200Y	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.D200Y|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		AGCATTTGAAGACAAAGATTT	0.388000													10	33					1.76689e-08	2.64641e-08	0.006214	1	0
LMX1A	4009	broad.mit.edu	37	1	165182882	165182882	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:165182882C>A	ENST00000342310.3	-	5	1047	c.665G>T	c.(664-666)aGg>aTg	p.R222M	LMX1A_ENST00000294816.2_Missense_Mutation_p.R222M|LMX1A_ENST00000367893.4_Missense_Mutation_p.R222M	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTATACCTTCCTGCAGGGCTT	0.562000													37	104					1.90571e-15	3.14816e-15	0.004289	1	0
OR9G1	390174	broad.mit.edu	37	11	56468651	56468651	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:56468651C>A	ENST00000312153.1	+	1	788	c.788C>A	c.(787-789)tCt>tAt	p.S263Y		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CTCCCCAGATCTAGCTATTCT	0.433000													15	178					1.3612e-06	1.87235e-06	0.003163	1	0
PDE4A	5141	broad.mit.edu	37	19	10577915	10577915	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:10577915C>T	ENST00000380702.2	+	16	2213	c.2213C>T	c.(2212-2214)tCg>tTg	p.S738L	PDE4A_ENST00000352831.6_Missense_Mutation_p.S760L|PDE4A_ENST00000440014.2_Missense_Mutation_p.S699L|PDE4A_ENST00000293683.5_Missense_Mutation_p.S734L|PDE4A_ENST00000344979.3_Missense_Mutation_p.S521L|PDE4A_ENST00000592685.1_Missense_Mutation_p.S738L			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	760					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	p.S521L(1)|p.S734L(1)|p.S699L(1)		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)	GCCCAGGAGTCGTTGGAAGTT	0.607000													5	58					0	0	0.000602	0	0
BRSK1	84446	broad.mit.edu	37	19	55798406	55798406	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:55798406G>T	ENST00000309383.1	+	2	445	c.168G>T	c.(166-168)acG>acT	p.T56T	BRSK1_ENST00000585418.1_Silent_p.T56T|BRSK1_ENST00000590333.1_Silent_p.T72T	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	56	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ACTGCATCACGGGTCAGAAGG	0.637000													7	86					1.12685e-05	1.48339e-05	0.004482	1	0
GPR17	2840	broad.mit.edu	37	2	128409091	128409091	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:128409091A>T	ENST00000544369.1	+	4	1477	c.866A>T	c.(865-867)cAc>cTc	p.H289L	LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.H289L|GPR17_ENST00000272644.3_Missense_Mutation_p.H289L|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	289						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TACGTGCTGCACTACCGCAGC	0.652000													18	33					0	0	0.004990	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588554	20588554	+	RNA	SNP	C	C	G	rs112526901	by1000genomes	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:20588554C>G	ENST00000428453.1	-	0	4196																				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						CCGTGGAAAGCGGTTGCAGAA	0.473000													5	74					0	0	0.001984	0	0
NLRP3	114548	broad.mit.edu	37	1	247593036	247593036	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:247593036G>C	ENST00000366497.2	+	5	3086	c.2306G>C	c.(2305-2307)gGc>gCc	p.G769A	NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000366496.2_Missense_Mutation_p.G769A|NLRP3_ENST00000336119.3_Missense_Mutation_p.G769A|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.G769A	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	826					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)			CAGCATCCTGGCTGTAACATT	0.498000													4	71					0	0	0.000248	0	0
SMARCA4	6597	broad.mit.edu	37	19	11141507	11141507	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:11141507G>T	ENST00000358026.2	+	25	3768	c.3484G>T	c.(3484-3486)Ggc>Tgc	p.G1162C	SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1162	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGGGGGCTCGGCCTGAACCT	0.607000			"""F, N, Mis"""		NSCLC								11	8					3.86212e-05	4.89299e-05	0.008291	1	0
TBC1D2	55357	broad.mit.edu	37	9	101014106	101014106	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:101014106C>A	ENST00000375066.5	-	2	563	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	TBC1D2_ENST00000375064.1_Missense_Mutation_p.A158S|TBC1D2_ENST00000342112.5_Intron	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	158	Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCAGCCAGGGCGGCATCAGGG	0.637000													7	55					0.00198382	0.00230533	0.001984	1	0
HIAT1	64645	broad.mit.edu	37	1	100544036	100544037	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:100544036_100544037delCC	ENST00000370152.3	+	10	1170_1171	c.1034_1035delCC	c.(1033-1035)gfs	p.A345fs	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	345					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GCAGTAGCAGCCATGTCTAGCA	0.426													7	80	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)gcfs	p.S277fs	SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000538290.1_Intron	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433													7	152	---	---	---	---					
GTDC1	79712	broad.mit.edu	37	2	144709595	144709595	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:144709595delT	ENST00000409214.1	-	11	1525	c.1247delA	c.(1246-1248)cgfs	p.Q416fs	AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000409298.1_Frame_Shift_Del_p.Q298fs|GTDC1_ENST00000241391.5_Frame_Shift_Del_p.Q331fs|GTDC1_ENST00000344850.4_Frame_Shift_Del_p.Q416fs|GTDC1_ENST00000392867.3_Frame_Shift_Del_p.Q331fs|GTDC1_ENST00000392869.1_Frame_Shift_Del_p.Q416fs|GTDC1_ENST00000463875.2_Frame_Shift_Del_p.Q287fs|GTDC1_ENST00000542155.1_Frame_Shift_Del_p.Q416fs	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	416					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GCAGAAATTCTGGAGCCTTTT	0.333													24	42	---	---	---	---					
PLCL1	5334	broad.mit.edu	37	2	198966044	198966044	+	Frame_Shift_Del	DEL	G	G	-	rs77860458	byFrequency	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:198966044delG	ENST00000428675.1	+	4	3353	c.2955delG	c.(2953-2955)gcfs	p.A985fs	PLCL1_ENST00000437704.2_Frame_Shift_Del_p.A887fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	985					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TAGAAATGGCGGACACAGTCC	0.343													37	57	---	---	---	---					
EPHA6	285220	broad.mit.edu	37	3	97251210	97251210	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:97251210delG	ENST00000389672.5	+	11	2247	c.2209delG	c.(2209-2211)gafs	p.G737fs	EPHA6_ENST00000442602.2_Frame_Shift_Del_p.G103fs|EPHA6_ENST00000514100.1_Frame_Shift_Del_p.G129fs|EPHA6_ENST00000502694.1_Frame_Shift_Del_p.G129fs	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	642	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGGTGAATTTGGAGAAGTCTG	0.388													8	63	---	---	---	---					
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctg>c	p.LPV14del	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	4	---	---	---	---					
LZTS1	11178	broad.mit.edu	37	8	20110819	20110819	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:20110819delC	ENST00000381569.1	-	3	980	c.623delG	c.(622-624)gcfs	p.G208fs	LZTS1_ENST00000265801.6_Frame_Shift_Del_p.G208fs|LZTS1_ENST00000522290.1_Frame_Shift_Del_p.G208fs			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	208					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GTGGGCGGAGCCCCCAAAACG	0.637													47	82	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974782	21974783	+	Frame_Shift_Ins	INS	-	-	GA	rs138677674		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:21974782_21974783insGA	ENST00000304494.5	-	1	314_315	c.44_45insTC	c.(43-45)tctfs	p.S15fs	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.S15fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.S15fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.S15fs|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.W15*(7)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.W15L(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTGGCCAGCCAGTCAGCCGA	0.757		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			9	26	---	---	---	---					
ZNF484	83744	broad.mit.edu	37	9	95609868	95609871	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:95609868_95609871delTACT	ENST00000395505.2	-	3	1182_1185	c.1090_1093delAGTA	c.(1090-1095)tgfs	p.SM364fs	ZNF484_ENST00000332591.6_Frame_Shift_Del_p.SM364fs|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Frame_Shift_Del_p.SM402fs|ZNF484_ENST00000375495.3_Frame_Shift_Del_p.SM400fs	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTCTGATGCATACTTAGTGTTGAT	0.338													14	22	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30315934	30315935	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:30315934_30315935delAA	ENST00000375377.1	-	3	3243_3244	c.3142_3143delTT	c.(3142-3144)afs	p.L1048fs		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1048										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						CACAGACCGTAAGTCTGGAGCT	0.589													35	131	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65266579	65266582	+	RNA	DEL	CAGA	CAGA	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:65266579_65266582delCAGA	ENST00000534336.1	+	0	1347_1350					NR_002819.2																						GAGGAAACCGCAGATAAGTTTTTT	0.441													14	21	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs35342965	by1000genomes	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													4	3	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													3	4	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1221270	1221279	+	Frame_Shift_Del	DEL	GAGAACATCG	GAGAACATCG	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:1221270_1221279delGAGAACATCG	ENST00000326873.7	+	6	1966_1975	c.793_802delGAGAACATCG	c.(793-804)ggfs	p.ENIG265fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	265	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		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)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGTTGTTTGAGAACATCGGGAAGGGGAG	0.605		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			8	14	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													4	2	---	---	---	---					
MICAL3	57553	broad.mit.edu	37	22	18389298	18389318	+	Splice_Site	DEL	ACAGGAGCAAAGCTTACCTTG	ACAGGAGCAAAGCTTACCTTG	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:18389298_18389318delACAGGAGCAAAGCTTACCTTG	ENST00000441493.2	-	2	613_617	c.264_splice	c.e2+1	p.T87_splice	MICAL3_ENST00000383094.3_Splice_Site_p.T87_splice|MICAL3_ENST00000585038.1_Splice_Site_p.T87_splice|MICAL3_ENST00000414725.2_Splice_Site_p.T87_splice|MICAL3_ENST00000444520.1_Splice_Site_p.T87_splice|MICAL3_ENST00000207726.7_Splice_Site_p.T87_splice|MICAL3_ENST00000400561.2_Splice_Site_p.T87_splice|MICAL3_ENST00000429452.1_Splice_Site_p.T87_splice	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	87						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)		CCAGGGCCCAACAGGAGCAAAGCTTACCTTGGTGTTAGTGC	0.498													24	104	---	---	---	---					
