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
EIF4G2	1982	broad.mit.edu	37	11	10822510	10822510	+	Splice_Site	SNP	T	T	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:10822510T>C	ENST00000526148.1	-	15	2048	c.1538A>G	c.(1537-1539)cAg>cGg	p.Q513R	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Splice_Site_p.Q475R|EIF4G2_ENST00000525681.1_Splice_Site_p.Q513R|EIF4G2_ENST00000339995.5_Splice_Site_p.Q513R	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	513					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGTCTGTACCTGTCCCAGAGG	0.393000													3	151					0	0	0.217242	0	0
TTN	7273	broad.mit.edu	37	2	179474565	179474565	+	Silent	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr2:179474565C>T	ENST00000589042.1	-	272	51809	c.51585G>A	c.(51583-51585)aaG>aaA	p.K17195K	TTN_ENST00000359218.5_Silent_p.K8255K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.K14627K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.K8322K|TTN_ENST00000460472.2_Silent_p.K8130K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Silent_p.K15554K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15554	Fibronectin type-III 24.						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)			CATTGCATCTCTTCCACCTTT	0.473000													12	564					0	0	0.457914	0	0
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577000			T	ETV4	prostate								4	350					0	0	0.184627	0	0
ANO9	338440	broad.mit.edu	37	11	431763	431763	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:431763T>C	ENST00000332826.6	-	7	554	c.470A>G	c.(469-471)gAg>gGg	p.E157G		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	157						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CAGGCGTCCCTCCCCCTGGCT	0.647000													3	57					0	0	0.115264	0	0
KRBA1	84626	broad.mit.edu	37	7	149425660	149425660	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:149425660C>G	ENST00000255992.10	+	12	1920	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L	KRBA1_ENST00000319551.8_Silent_p.L507L|KRBA1_ENST00000485033.2_Silent_p.L507L|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	507										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGAATTGTCTCAAGGAGATAC	0.577000													7	221					0	0	0.307466	0	0
DNAH8	1769	broad.mit.edu	37	6	38834595	38834595	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr6:38834595C>G	ENST00000359357.3	+	45	6239	c.5985C>G	c.(5983-5985)atC>atG	p.I1995M	DNAH8_ENST00000441566.1_Intron|DNAH8_ENST00000449981.2_Missense_Mutation_p.I2212M					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAATGTTATCTTGGCTCAAA	0.303000													5	47					0	0	0.248553	0	0
EP300	2033	broad.mit.edu	37	22	41545867	41545867	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:41545867C>T	ENST00000263253.7	+	14	3701	c.2482C>T	c.(2482-2484)Cat>Tat	p.H828Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	828					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACCAGCTCTTCATCAGAATTC	0.552000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				4	58					0	0	0.217242	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373000													3	55					0	0	0.150653	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													6	89					0	0	0.217242	0	0
RERE	473	broad.mit.edu	37	1	8419925	8419925	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:8419925C>T	ENST00000337907.3	-	20	4151	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.E1173K|RERE_ENST00000377464.1_Missense_Mutation_p.E905K|RERE_ENST00000476556.1_Missense_Mutation_p.E619K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1173					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1173K(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGCTCAGCCTCGCGCTTGGCC	0.662000													4	58					0	0	0.248553	0	0
BPIFA2	140683	broad.mit.edu	37	20	31757018	31757018	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr20:31757018G>C	ENST00000253362.2	+	2	213	c.67G>C	c.(67-69)Gac>Cac	p.D23H	BPIFA2_ENST00000354932.5_Missense_Mutation_p.D23H			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	23						extracellular region	lipid binding										GTCTCTTCTTGACAATCTTGG	0.463000													4	186					0	0	0.150653	0	0
KCNB2	9312	broad.mit.edu	37	8	73849986	73849986	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr8:73849986G>C	ENST00000523207.1	+	3	2984	c.2396G>C	c.(2395-2397)aGa>aCa	p.R799T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	799					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)			TTCTCTTCAAGAGAGAGGAGG	0.542000													3	37					0	0	0.184627	0	0
TP63	8626	broad.mit.edu	37	3	189455608	189455608	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:189455608G>A	ENST00000264731.3	+	2	231	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	TP63_ENST00000320472.5_Missense_Mutation_p.E48K|TP63_ENST00000382063.4_Missense_Mutation_p.E48K|TP63_ENST00000418709.2_Missense_Mutation_p.E48K|TP63_ENST00000440651.2_Missense_Mutation_p.E48K|TP63_ENST00000392460.3_Missense_Mutation_p.E48K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	48	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E48*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACAGACAAATGAATTCCTCAG	0.378000										HNSCC(45;0.13)			4	102					0	0	0.150653	0	0
DDX23	9416	broad.mit.edu	37	12	49230553	49230553	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr12:49230553C>G	ENST00000308025.3	-	10	1114	c.1035G>C	c.(1033-1035)aaG>aaC	p.K345N		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	345						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGGCTTCCTTCTTACGAAGTT	0.532000													10	236					0	0	0.361761	0	0
GANAB	23193	broad.mit.edu	37	11	62407194	62407194	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:62407194C>G	ENST00000346178.4	-	2	63	c.48G>C	c.(46-48)gcG>gcC	p.A16A	GANAB_ENST00000540933.1_5'UTR|GANAB_ENST00000534779.1_Intron|GANAB_ENST00000356638.3_Silent_p.A16A	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	16					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GTACCAAAGACGCCCAAGACC	0.473000													3	89					0	0	0.115264	0	0
SIK2	23235	broad.mit.edu	37	11	111558730	111558730	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:111558730C>G	ENST00000304987.3	+	4	495	c.322C>G	c.(322-324)Ctt>Gtt	p.L108V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	108	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TACAGACTATCTTGCTAATCA	0.368000													4	91					0	0	0.217242	0	0
TAB3	257397	broad.mit.edu	37	X	30872793	30872793	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:30872793G>C	ENST00000378933.1	-	3	1166	c.989C>G	c.(988-990)cCc>cGc	p.P330R	TAB3_ENST00000288422.2_Missense_Mutation_p.P330R|TAB3_ENST00000378930.3_Missense_Mutation_p.P330R|TAB3_ENST00000378932.2_Missense_Mutation_p.P330R|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	330	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATATGGATGGGGTGGAGTAGT	0.478000													5	40					0	0	0.184627	0	0
FCGR2A	2212	broad.mit.edu	37	1	161487799	161487799	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:161487799G>C	ENST00000271450.6	+	7	853	c.815G>C	c.(814-816)aGa>aCa	p.R272T	FCGR2A_ENST00000367972.4_Missense_Mutation_p.R271T|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	272						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	atcagaaagagacaacttgaa	0.433000													6	64					0	0	0.217242	0	0
FAM161B	145483	broad.mit.edu	37	14	74401048	74401048	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr14:74401048C>G	ENST00000286544.3	-	9	2242	c.2044G>C	c.(2044-2046)Gaa>Caa	p.E682Q	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000534936.1_Missense_Mutation_p.E619Q	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AGAGATCCTTCTAAACCCTGC	0.388000													6	100					0	0	0.278610	0	0
NEURL4	84461	broad.mit.edu	37	17	7230206	7230206	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:7230206C>A	ENST00000399464.2	-	4	931	c.916G>T	c.(916-918)Gct>Tct	p.A306S	NEURL4_ENST00000570460.1_Missense_Mutation_p.A284S|NEURL4_ENST00000315614.7_Missense_Mutation_p.A306S	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGTGGCAGCACCGCTAGAT	0.562000													5	91					8.12818e-05	9.02228e-05	0.248553	1	0
OR13F1	138805	broad.mit.edu	37	9	107267011	107267011	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:107267011C>G	ENST00000334726.2	+	1	557	c.468C>G	c.(466-468)gcC>gcG	p.A156A		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTCTCACTGCCATGGTGGAAA	0.478000													5	129					0	0	0.278610	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100476855	100476855	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr12:100476855G>C	ENST00000279907.7	-	11	1558	c.1346C>G	c.(1345-1347)tCa>tGa	p.S449*	UHRF1BP1L_ENST00000356828.3_Nonsense_Mutation_p.S449*|UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.S99*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	449										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTAGCTTTTGATTGTTGAGA	0.338000													4	81					0	0	0.184627	0	0
NFKBIA	4792	broad.mit.edu	37	14	35871254	35871254	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr14:35871254C>T	ENST00000216797.5	-	6	1020	c.919G>A	c.(919-921)Gac>Aac	p.D307N	NFKBIA_ENST00000557389.1_Missense_Mutation_p.D217N|NFKBIA_ENST00000557140.1_Missense_Mutation_p.D264N	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	307					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		AACACACAGTCATCATAGGGC	0.453000													13	126					0	0	0.500413	0	0
NAALADL2	254827	broad.mit.edu	37	3	175293969	175293969	+	Silent	SNP	A	A	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:175293969A>G	ENST00000454872.1	+	10	1922	c.1794A>G	c.(1792-1794)acA>acG	p.T598T	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	598					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACATCAAAACATTAGAGGTGA	0.348000													5	175					0	0	0.184627	0	0
CERCAM	51148	broad.mit.edu	37	9	131186476	131186476	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:131186476G>C	ENST00000372842.1	+	5	3396	c.252G>C	c.(250-252)caG>caC	p.Q84H	CERCAM_ENST00000372838.4_Missense_Mutation_p.Q162H			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	162					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TCATGGGGCAGGGGCTTCCAG	0.612000													6	146					0	0	0.248553	0	0
RBCK1	10616	broad.mit.edu	37	20	391159	391159	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr20:391159C>G	ENST00000475269.1	+	3	951	c.271C>G	c.(271-273)Caa>Gaa	p.Q91E	RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000356286.5_Intron|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000400247.3_Missense_Mutation_p.Q49E			Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	157	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				gagcatagctcaaaaattgta	0.473000													4	65					0	0	0.150653	0	0
ADPRM	56985	broad.mit.edu	37	17	10608569	10608569	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:10608569G>A	ENST00000379774.4	+	2	417	c.326G>A	c.(325-327)gGa>gAa	p.G109E	ADPRM_ENST00000609540.1_Missense_Mutation_p.G109E	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		CATACATGGGGAAACCATGAA	0.358000													5	77					0	0	0.248553	0	0
ANK1	286	broad.mit.edu	37	8	41573364	41573364	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr8:41573364C>T	ENST00000396942.1	-	14	1491	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	ANK1_ENST00000289734.7_Missense_Mutation_p.D470N|ANK1_ENST00000396945.1_Missense_Mutation_p.D470N|ANK1_ENST00000347528.4_Missense_Mutation_p.D470N|ANK1_ENST00000265709.8_Missense_Mutation_p.D503N|ANK1_ENST00000379758.2_Missense_Mutation_p.D470N|ANK1_ENST00000352337.4_Missense_Mutation_p.D470N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	470	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGGTCTGGTCATCCTGGACC	0.537000													4	50					0	0	0.217242	0	0
MAP3K8	1326	broad.mit.edu	37	10	30739297	30739297	+	Silent	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr10:30739297C>A	ENST00000263056.1	+	5	1311	c.615C>A	c.(613-615)ctC>ctA	p.L205L	MAP3K8_ENST00000375321.1_Silent_p.L205L|MAP3K8_ENST00000542547.1_Silent_p.L205L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	205	Protein kinase.				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)				CTGTCCATCTCTTTATGGAAG	0.483000													4	125					0.00024832	0.000272906	0.150653	1	0
NEB	4703	broad.mit.edu	37	2	152543972	152543972	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr2:152543972C>G	ENST00000397345.3	-	27	2800	c.2598G>C	c.(2596-2598)aaG>aaC	p.K866N	NEB_ENST00000172853.10_Missense_Mutation_p.K866N|NEB_ENST00000427231.2_Missense_Mutation_p.K866N|NEB_ENST00000604864.1_Missense_Mutation_p.K866N|NEB_ENST00000603639.1_Missense_Mutation_p.K866N|NEB_ENST00000409198.1_Missense_Mutation_p.K866N	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	866					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTGCAGCATCTTTGGATCGT	0.438000													8	178					0	0	0.307466	0	0
EPHA2	1969	broad.mit.edu	37	1	16461535	16461535	+	Silent	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:16461535C>T	ENST00000358432.5	-	7	1732	c.1578G>A	c.(1576-1578)acG>acA	p.T526T		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	526	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACTCACACAGCGTCTGGAATT	0.592000													5	318					0	0	0.217242	0	0
SLC36A1	206358	broad.mit.edu	37	5	150867635	150867635	+	Silent	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:150867635G>T	ENST00000243389.3	+	11	1474	c.1251G>T	c.(1249-1251)ccG>ccT	p.P417P	SLC36A1_ENST00000520701.1_Silent_p.P417P	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	417					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TCATCCCACCGCTCCTGGAGG	0.632000													3	43					0.150653	0.15776	0.150653	1	0
CPA4	51200	broad.mit.edu	37	7	129945685	129945685	+	Silent	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:129945685G>A	ENST00000222482.4	+	6	544	c.516G>A	c.(514-516)ccG>ccA	p.P172P	CPA4_ENST00000445470.2_Silent_p.P139P|CPA4_ENST00000493259.1_Silent_p.P68P	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	172					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGAGGCGGCCGGCCGTTTGGC	0.587000													6	140					0	0	0.278610	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353000													3	20					0.115264	0.121851	0.115264	1	0
TPRX1	284355	broad.mit.edu	37	19	48305091	48305091	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr19:48305091C>G	ENST00000535759.1	-	4	1467	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q	TPRX1_ENST00000322175.3_Missense_Mutation_p.E393Q|TPRX1_ENST00000543508.1_Missense_Mutation_p.E383Q			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	393						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CCACCCTCCTCTTGGGGCTGA	0.532000													6	173					0	0	0.217242	0	0
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr19:12155757C>A	ENST00000602107.1	-	5	599	c.600G>T	c.(598-600)agG>agT	p.R200S	ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423000													4	192					3.59834e-05	4.0345e-05	0.217242	1	0
SACS	26278	broad.mit.edu	37	13	23905175	23905175	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr13:23905175G>C	ENST00000382298.3	-	10	13428	c.12840C>G	c.(12838-12840)ttC>ttG	p.F4280L	SACS_ENST00000402364.1_Missense_Mutation_p.F3530L|SACS_ENST00000382292.3_Missense_Mutation_p.F4280L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4280					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTCTACCAGAGAAAAGAGGAG	0.478000													4	93					0	0	0.184627	0	0
CAPN12	147968	broad.mit.edu	37	19	39226178	39226178	+	Silent	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr19:39226178G>T	ENST00000328867.4	-	13	1898	c.1590C>A	c.(1588-1590)atC>atA	p.I530I	CAPN12_ENST00000601953.1_Silent_p.I381I	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	530	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCACGTCGTCGATCTCCCTGC	0.632000													5	34					1.23904e-05	1.4034e-05	0.184627	1	0
TBX4	9496	broad.mit.edu	37	17	59560439	59560439	+	Silent	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:59560439G>A	ENST00000393853.4	+	9	1366	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	TBX4_ENST00000240335.1_Silent_p.E400E|TBX4_ENST00000589449.1_Intron			P57082	TBX4_HUMAN	T-box 4	400					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGGGCCCGAGATTGCCGGGG	0.607000													8	90					0	0	0.307466	0	0
ASAH1	427	broad.mit.edu	37	8	17918895	17918895	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr8:17918895T>C	ENST00000262097.6	-	10	1087	c.776A>G	c.(775-777)aAt>aGt	p.N259S	ASAH1_ENST00000314146.10_Missense_Mutation_p.N253S|ASAH1_ENST00000381733.4_Missense_Mutation_p.N275S|ASAH1_ENST00000417108.2_Missense_Mutation_p.N169S|ASAH1_ENST00000520781.1_Missense_Mutation_p.N234S	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	259					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CCTTGTGCTATTTTCCAGAAC	0.323000													4	133					0	0	0.184627	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43689511	43689511	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:43689511A>G	ENST00000564079.1	+	12	1511	c.1271A>G	c.(1270-1272)gAg>gGg	p.E424G	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E288G|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.E424G	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	424					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CACGGAAAGGAGCACAAAGGT	0.488000													3	131					0	0	0.115264	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167577	140167577	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:140167577C>T	ENST00000504120.2	+	1	1702	c.1702C>T	c.(1702-1704)Cct>Tct	p.P568S	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P568S|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCTGGCGCCTCGAGTGGG	0.687000													6	107					0	0	0.217242	0	0
DNAH5	1767	broad.mit.edu	37	5	13844961	13844961	+	Silent	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:13844961G>C	ENST00000265104.4	-	32	5360	c.5256C>G	c.(5254-5256)gtC>gtG	p.V1752V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1752	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGTGGAACTTGACAGATTTAA	0.468000									Kartagener syndrome				6	237					0	0	0.248553	0	0
LYN	4067	broad.mit.edu	37	8	56864554	56864554	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr8:56864554G>A	ENST00000520220.2	+	7	728	c.454G>A	c.(454-456)Gac>Aac	p.D152N	LYN_ENST00000519728.1_Missense_Mutation_p.D173N	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	173	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CAGAGACTTTGACCCTGTGCA	0.398000													4	138					0	0	0.150653	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41689076	41689076	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:41689076C>A	ENST00000260361.4	-	2	563	c.182G>T	c.(181-183)gGa>gTa	p.G61V		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	61					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CTGGTGATCTCCTTGCAAATC	0.423000													7	205					0.000442599	0.000481652	0.335167	1	0
PAPPA2	60676	broad.mit.edu	37	1	176679172	176679172	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:176679172G>C	ENST00000367662.3	+	11	4675	c.3511G>C	c.(3511-3513)Gag>Cag	p.E1171Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1171					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAACCTTTTGAGAGAAAAAC	0.428000													8	128					0	0	0.361761	0	0
PAX5	5079	broad.mit.edu	37	9	37015062	37015062	+	Silent	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:37015062G>A	ENST00000358127.4	-	3	416	c.342C>T	c.(340-342)atC>atT	p.I114I	PAX5_ENST00000523145.1_Silent_p.I6I|PAX5_ENST00000377853.2_Silent_p.I114I|PAX5_ENST00000522003.1_Silent_p.I6I|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Silent_p.I114I|PAX5_ENST00000523241.1_Silent_p.I114I|PAX5_ENST00000377847.2_Silent_p.I114I|PAX5_ENST00000520154.1_Silent_p.I114I|PAX5_ENST00000377852.2_Silent_p.I114I|PAX5_ENST00000414447.1_Silent_p.I114I	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	114	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GCCGGTCCCTGATCTCCCAGG	0.552000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								5	285					0	0	0.217242	0	0
FANCE	2178	broad.mit.edu	37	6	35426085	35426085	+	Silent	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr6:35426085G>T	ENST00000229769.2	+	5	1166	c.981G>T	c.(979-981)ctG>ctT	p.L327L		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	327	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						TGGACTTGCTGTGTGCCCAGC	0.602000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	186					1.5842e-08	1.85101e-08	0.435327	1	0
NAA35	60560	broad.mit.edu	37	9	88557196	88557196	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:88557196G>A	ENST00000361671.5	+	2	255	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	NAA35_ENST00000376040.1_Missense_Mutation_p.R41Q	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	41					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GAAGCTTGTCGAGGTGAGTCT	0.403000													7	176					0	0	0.361761	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588860	33588860	+	Silent	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:33588860C>T	ENST00000504830.1	-	18	3044	c.2709G>A	c.(2707-2709)gaG>gaA	p.E903E	ADAMTS12_ENST00000352040.3_Silent_p.E818E|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	903	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTCGCTTCTTCTCCCCGTGGG	0.607000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	84					0	0	0.575678	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106877798	106877798	+	RNA	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr14:106877798G>A	ENST00000390619.2	-	0	245																											GGGGGCTGGCGGATCCAGCCC	0.582000													5	138					0	0	0.217242	0	0
PCF11	51585	broad.mit.edu	37	11	82877510	82877510	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr11:82877510C>G	ENST00000298281.4	+	5	2023	c.1571C>G	c.(1570-1572)tCt>tGt	p.S524C		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	524					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATTCGCCAATCTGGAGCTAAG	0.443000													6	140					0	0	0.248553	0	0
SPRY1	10252	broad.mit.edu	37	4	124322883	124322883	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr4:124322883C>A	ENST00000394339.2	+	2	477	c.137C>A	c.(136-138)gCc>gAc	p.A46D	SPRY1_ENST00000339241.1_Missense_Mutation_p.A46D	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	46					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CAGATCAAGGCCATAAGAGGC	0.463000													5	182					0.000602214	0.000648988	0.184627	1	0
CARKD	55739	broad.mit.edu	37	13	111290681	111290681	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr13:111290681C>T	ENST00000309957.2	+	10	1000	c.986C>T	c.(985-987)aCg>aTg	p.T329M	CARKD_ENST00000470164.2_Intron|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	0	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CCCCGGACCACGACGCCCACT	0.612000													4	155					0	0	0.150653	0	0
ZNF665	79788	broad.mit.edu	37	19	53668467	53668467	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr19:53668467C>T	ENST00000600412.1	-	2	1196	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZNF665_ENST00000396424.3_Missense_Mutation_p.G426R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GGTTTCTCTCCAGTATGAATT	0.413000													4	123					0	0	0.150653	0	0
PGK1	5230	broad.mit.edu	37	X	77372877	77372877	+	Silent	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:77372877C>T	ENST00000373316.4	+	5	653	c.486C>T	c.(484-486)gtC>gtT	p.V162V	PGK1_ENST00000537456.1_Silent_p.V134V|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	162					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						ATGTCTATGTCAATGATGCTT	0.433000													4	45					0	0	0.217242	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762743	140762743	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:140762743G>A	ENST00000518325.1	+	1	277	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGACCGGGAAGAGATCTG	0.527000													4	93					0	0	0.150653	0	0
PURB	5814	broad.mit.edu	37	7	44924329	44924329	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:44924329C>T	ENST00000395699.2	-	1	631	c.619G>A	c.(619-621)Ggc>Agc	p.G207S		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	207	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						cccccggcgccgcctcccggg	0.692000													3	38					0	0	0.115264	0	0
TAPT1	202018	broad.mit.edu	37	4	16165008	16165008	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr4:16165008C>G	ENST00000405303.2	-	14	1710	c.1627G>C	c.(1627-1629)Gaa>Caa	p.E543Q	TAPT1_ENST00000399920.3_Missense_Mutation_p.E432Q|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	543						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TGTTTTAATTCAGAATTGTCC	0.383000													3	189					0	0	0.150653	0	0
KDM5A	5927	broad.mit.edu	37	12	417057	417057	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr12:417057T>C	ENST00000399788.2	-	23	3855	c.3493A>G	c.(3493-3495)Att>Gtt	p.I1165V	KDM5A_ENST00000382815.4_Missense_Mutation_p.I1165V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1165					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTGCGGCAAATGCAAAATTTT	0.453000			T	NUP98	AML								7	163					0	0	0.278610	0	0
MFI2	4241	broad.mit.edu	37	3	196730882	196730882	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:196730882G>A	ENST00000296350.5	-	15	2140	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	676	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCGGACGGTGGCATCCTTGAA	0.587000													16	596					0	0	0.575678	0	0
LNPEP	4012	broad.mit.edu	37	5	96341855	96341855	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:96341855C>G	ENST00000231368.5	+	10	2556	c.1864C>G	c.(1864-1866)Caa>Gaa	p.Q622E	LNPEP_ENST00000395770.3_Missense_Mutation_p.Q608E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	622					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGTGACTGTTCAAAAGAAAGG	0.333000													3	69					0	0	0.150653	0	0
ZNF140	7699	broad.mit.edu	37	12	133682944	133682944	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr12:133682944G>A	ENST00000355557.2	+	5	2364	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	ZNF140_ENST00000544426.1_Missense_Mutation_p.E258K|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	361						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGAATGTGATGAATGTGGTAA	0.398000													4	146					0	0	0.184627	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458417	42458417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:42458417G>A	ENST00000262407.5	-	13	1254	c.1223C>T	c.(1222-1224)gCt>gTt	p.A408V	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A408V|ITGA2B_ENST00000377068.3_Missense_Mutation_p.A93V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	408					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GTAGGGGGCAGCCACTGCAAT	0.577000													3	43					0	0	0.184627	0	0
OCIAD2	132299	broad.mit.edu	37	4	48894829	48894829	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr4:48894829C>G	ENST00000508632.1	-	6	575	c.343G>C	c.(343-345)Gat>Cat	p.D115H	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Intron	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	115	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						CGGAGCTGATCTTCAAAAAAA	0.393000													7	330					0	0	0.307466	0	0
TNXB	7148	broad.mit.edu	37	6	32015700	32015700	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr6:32015700C>T	ENST00000375244.3	-	30	10336	c.10135G>A	c.(10135-10137)Gag>Aag	p.E3379K	TNXB_ENST00000375247.2_Missense_Mutation_p.E3377K			P22105	TENX_HUMAN	tenascin XB	3424	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AATTCGCCCTCAGGGACCGTC	0.637000													4	59					0	0	0.150653	0	0
FAT4	79633	broad.mit.edu	37	4	126412493	126412493	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr4:126412493C>G	ENST00000394329.3	+	17	14529	c.14516C>G	c.(14515-14517)tCt>tGt	p.S4839C	FAT4_ENST00000335110.5_Missense_Mutation_p.S3080C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4839					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAATCCTCTTCTGATAGT	0.468000													4	86					0	0	0.150653	0	0
SOAT1	6646	broad.mit.edu	37	1	179308589	179308589	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:179308589G>A	ENST00000367619.3	+	6	549	c.406G>A	c.(406-408)Gac>Aac	p.D136N	SOAT1_ENST00000539888.1_Missense_Mutation_p.D71N|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Missense_Mutation_p.D78N	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	136					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCTTGAAGTGGACCACATCAG	0.313000													5	125					0	0	0.278610	0	0
PAN3	255967	broad.mit.edu	37	13	28794450	28794450	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr13:28794450C>T	ENST00000399613.1	+	5	398	c.335C>T	c.(334-336)tCt>tTt	p.S112F	PAN3_ENST00000380958.3_Missense_Mutation_p.S312F			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	312	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCAAATATGTCTGCCTTCTCT	0.438000													8	308					0	0	0.278610	0	0
ZXDB	158586	broad.mit.edu	37	X	57619475	57619475	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:57619475C>T	ENST00000374888.1	+	1	1207	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	332	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CGACAAACTGCGGCCCTTTGG	0.602000													3	13					0	0	0.115264	0	0
CDK8	1024	broad.mit.edu	37	13	26911762	26911762	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr13:26911762G>A	ENST00000381527.3	+	2	690	c.187G>A	c.(187-189)Gca>Aca	p.A63T	CDK8_ENST00000536792.1_Missense_Mutation_p.A63T	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	63	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTCTATGTCGGCATGTAGAGA	0.294000													4	138					0	0	0.248553	0	0
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:7578419C>A	ENST00000420246.2	-	5	643	c.511G>T	c.(511-513)Gag>Tag	p.E171*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E171*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E171*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.E171*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E171*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E171*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCACAACCTCCGTCATGTGC	0.662000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	75					5.9392e-07	6.7964e-07	0.217242	1	0
GRM2	2912	broad.mit.edu	37	3	51749893	51749893	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:51749893G>A	ENST00000395052.3	+	4	2338	c.2104G>A	c.(2104-2106)Gca>Aca	p.A702T	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	702					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGTGGTGGAGGCACCGGGCAC	0.652000													3	44					0	0	0.150653	0	0
EXO5	64789	broad.mit.edu	37	1	40980423	40980423	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:40980423A>G	ENST00000372703.1	+	2	1281	c.207A>G	c.(205-207)atA>atG	p.I69M	EXO5_ENST00000358527.2_Missense_Mutation_p.I69M|EXO5_ENST00000296380.4_Missense_Mutation_p.I69M|RP11-656D10.5_ENST00000453437.1_RNA					exonuclease 5																		GATTGGATATATTATCACCCA	0.423000													3	100					0	0	0.115264	0	0
ATP10A	57194	broad.mit.edu	37	15	25953415	25953415	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:25953415G>C	ENST00000356865.6	-	11	2488	c.2377C>G	c.(2377-2379)Cgg>Ggg	p.R793G		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	793					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R793W(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTTTTGCTCCGAATCTTTTTT	0.537000													4	121					0	0	0.184627	0	0
FAM169B	283777	broad.mit.edu	37	15	98995216	98995216	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:98995216C>T	ENST00000558256.1	-	5	457	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	FAM169B_ENST00000332908.4_Missense_Mutation_p.G70S	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	70										large_intestine(3)|lung(3)|urinary_tract(1)	7						TAGCATGCACCGGTGCCATCA	0.592000													3	63					0	0	0.115264	0	0
SEC16A	9919	broad.mit.edu	37	9	139369336	139369336	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr9:139369336G>T	ENST00000313050.7	-	1	2805	c.2732C>A	c.(2731-2733)tCt>tAt	p.S911Y	SEC16A_ENST00000290037.6_Missense_Mutation_p.S733Y|SEC16A_ENST00000431893.2_Missense_Mutation_p.S733Y|SEC16A_ENST00000371706.3_Missense_Mutation_p.S733Y	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	733					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGAAGCACCAGAACCTTGTGG	0.468000													5	93					5.9392e-07	6.7964e-07	0.217242	1	0
PRDM15	63977	broad.mit.edu	37	21	43277327	43277327	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr21:43277327C>G	ENST00000422911.1	-	4	455	c.354G>C	c.(352-354)agG>agC	p.R118S	PRDM15_ENST00000447207.2_Missense_Mutation_p.R81S|PRDM15_ENST00000269844.3_Missense_Mutation_p.R447S|PRDM15_ENST00000398548.1_Missense_Mutation_p.R118S|PRDM15_ENST00000538201.1_Missense_Mutation_p.R81S	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGGCGACCCTCCTGGACTCAA	0.552000													3	115					0	0	0.115264	0	0
EP300	2033	broad.mit.edu	37	22	41545870	41545870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:41545870C>T	ENST00000263253.7	+	14	3704	c.2485C>T	c.(2485-2487)Cag>Tag	p.Q829*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	829					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCTCTTCATCAGAATTCACC	0.562000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				4	59					0	0	0.217242	0	0
GNB2L1	10399	broad.mit.edu	37	5	180668594	180668594	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:180668594C>G	ENST00000512805.1	-	3	735	c.327G>C	c.(325-327)ctG>ctC	p.L109L	GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Silent_p.L109L|GNB2L1_ENST00000456394.2_Silent_p.L109L|GNB2L1_ENST00000376817.4_Silent_p.L65L|GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000511900.1_Intron	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	109				Missing (in Ref. 4; BAG53102).	apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	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;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AGGCCACACTCAGCACATCCT	0.507000													5	98					0	0	0.217242	0	0
HEATR1	55127	broad.mit.edu	37	1	236766632	236766632	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:236766632C>G	ENST00000366582.3	-	3	301	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.E63Q|HEATR1_ENST00000366579.1_Missense_Mutation_p.E63Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	63					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCAAACTGCTCAAAGGAAGGA	0.393000													3	95					0	0	0.115264	0	0
CEACAM1	634	broad.mit.edu	37	19	43025627	43025627	+	Silent	SNP	A	A	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr19:43025627A>G	ENST00000161559.6	-	4	884	c.750T>C	c.(748-750)cgT>cgC	p.R250R	CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403444.3_Silent_p.R250R|CEACAM1_ENST00000403461.1_Silent_p.R250R|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Silent_p.R250R|CEACAM1_ENST00000599389.1_Silent_p.R250R|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000352591.5_Silent_p.R250R|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000308072.4_Silent_p.R210R	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	250	Ig-like C2-type 2.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TTGCCCCTGGACGGTAATAGG	0.537000													4	161					0	0	0.217242	0	0
ACADSB	36	broad.mit.edu	37	10	124797330	124797330	+	Silent	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr10:124797330G>A	ENST00000358776.4	+	3	284	c.270G>A	c.(268-270)gaG>gaA	p.E90E	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Intron	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	90					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CGAAAATGGAGAAATCAGTAA	0.313000													4	176					0	0	0.217242	0	0
SDF4	51150	broad.mit.edu	37	1	1158658	1158658	+	Silent	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:1158658G>A	ENST00000263741.7	-	4	835	c.543C>T	c.(541-543)atC>atT	p.I181I	SDF4_ENST00000360001.6_Silent_p.I181I|SDF4_ENST00000545427.1_Silent_p.I181I	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	181					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CGTTGAGCCTGATGGCGTCGG	0.557000													4	109					0	0	0.150653	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762442	24762442	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr10:24762442G>A	ENST00000376451.2	+	2	546	c.286G>A	c.(286-288)Gac>Aac	p.D96N	KIAA1217_ENST00000430453.2_Missense_Mutation_p.D299N|KIAA1217_ENST00000396445.1_Missense_Mutation_p.D96N|KIAA1217_ENST00000396446.1_Missense_Mutation_p.D96N|KIAA1217_ENST00000307544.6_Missense_Mutation_p.D96N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D378N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D378N|KIAA1217_ENST00000376454.3_Missense_Mutation_p.D378N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.D298N			Q5T5P2	SKT_HUMAN	KIAA1217	378					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCCTGATGAAGACATGAGTGG	0.493000													7	161					0	0	0.278610	0	0
PI4KB	5298	broad.mit.edu	37	1	151288629	151288629	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:151288629G>A	ENST00000368875.2	-	3	945	c.365C>T	c.(364-366)tCa>tTa	p.S122L	PI4KB_ENST00000368873.1_Missense_Mutation_p.S110L|PI4KB_ENST00000368872.1_Missense_Mutation_p.S110L|PI4KB_ENST00000271657.5_Missense_Mutation_p.S122L|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368874.4_Missense_Mutation_p.S110L	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	110					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCTGTGCCTGAGGCCACAGC	0.542000													8	104					0	0	0.335167	0	0
ATF6	22926	broad.mit.edu	37	1	161821558	161821558	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr1:161821558G>A	ENST00000367942.3	+	11	1433	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	456					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGTGCTAACTGAAGAACCATT	0.383000													7	208					0	0	0.307466	0	0
CECR2	27443	broad.mit.edu	37	22	17976598	17976598	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:17976598G>A	ENST00000400585.2	+	0	334				CECR2_ENST00000400573.5_Missense_Mutation_p.D107N|CECR2_ENST00000342247.5_Missense_Mutation_p.D87N|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000262608.8_Missense_Mutation_p.D88N			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGATGCAGACGATGTCTTCGA	0.512000													4	125					0	0	0.184627	0	0
ALK	238	broad.mit.edu	37	2	29443607	29443607	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr2:29443607G>T	ENST00000389048.3	-	23	4516	c.3610C>A	c.(3610-3612)Ctc>Atc	p.L1204I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1204	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AAGGACTTGAGGTCTCCCCCC	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	41					0.115264	0.121851	0.115264	1	0
FZD9	8326	broad.mit.edu	37	7	72849103	72849103	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:72849103G>C	ENST00000344575.3	+	1	995	c.766G>C	c.(766-768)Gag>Cag	p.E256Q		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	256					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTCTTGCTGGAGCCCCACCG	0.642000													5	188					0	0	0.217242	0	0
LRFN5	145581	broad.mit.edu	37	14	42356424	42356424	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr14:42356424G>A	ENST00000554171.1	+	5	3028	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	LRFN5_ENST00000554120.1_Missense_Mutation_p.R199Q|LRFN5_ENST00000298119.4_Missense_Mutation_p.R199Q			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	199						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGATGACTCGGTTAGATGTG	0.438000										HNSCC(30;0.082)			4	31					0	0	0.184627	0	0
NOX5	79400	broad.mit.edu	37	15	69328242	69328242	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr15:69328242C>G	ENST00000260364.5	+	8	1401	c.1100C>G	c.(1099-1101)tCc>tGc	p.S367C	NOX5_ENST00000388866.3_Missense_Mutation_p.S385C|NOX5_ENST00000448182.3_Missense_Mutation_p.S339C|NOX5_ENST00000455873.3_Missense_Mutation_p.S350C|NOX5_ENST00000530406.2_Missense_Mutation_p.S357C			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	385	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TTCATCTGCTCCAGTTCCTGC	0.597000													6	185					0	0	0.248553	0	0
CPED1	79974	broad.mit.edu	37	7	120740099	120740099	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:120740099C>T	ENST00000310396.5	+	7	1336	c.869C>T	c.(868-870)tCg>tTg	p.S290L	CPED1_ENST00000450913.2_Missense_Mutation_p.S290L|CPED1_ENST00000423795.1_Missense_Mutation_p.S70L	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.S290L(1)									TTCATTCATTCGACGGGCACA	0.428000													7	64					0	0	0.307466	0	0
ENPP5	59084	broad.mit.edu	37	6	46129305	46129305	+	Silent	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr6:46129305G>A	ENST00000371383.2	-	5	1452	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	ENPP5_ENST00000230565.3_Silent_p.L398L			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	398						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GAATTGAGCAGATCCTGGACA	0.463000													3	138					0	0	0.115264	0	0
CADPS2	93664	broad.mit.edu	37	7	122033257	122033257	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:122033257C>G	ENST00000334010.7	-	20	3416	c.2995G>C	c.(2995-2997)Gag>Cag	p.E999Q	CADPS2_ENST00000449022.2_Missense_Mutation_p.E1001Q|CADPS2_ENST00000412584.2_Intron|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Intron|RP5-1101C3.1_ENST00000591140.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1001	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CACGTGGACTCATATAAAGAA	0.458000													3	36					0	0	0.115264	0	0
TOM1L1	10040	broad.mit.edu	37	17	52993262	52993262	+	Silent	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr17:52993262C>G	ENST00000572405.1	+	7	786	c.654C>G	c.(652-654)ctC>ctG	p.L218L	TOM1L1_ENST00000445275.2_Intron|TOM1L1_ENST00000570371.1_Intron|TOM1L1_ENST00000536554.1_Intron|TOM1L1_ENST00000575333.1_Intron|TOM1L1_ENST00000348161.4_Intron|TOM1L1_ENST00000575882.1_Intron|TOM1L1_ENST00000540336.1_Intron|TOM1L1_ENST00000572158.1_Intron			O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	0	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CAAAGTGTCTCTTAAAGTTAT	0.388000													3	50					0	0	0.115264	0	0
BMX	660	broad.mit.edu	37	X	15540611	15540611	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chrX:15540611G>A	ENST00000357607.2	+	7	841	c.653G>A	c.(652-654)aGc>aAc	p.S218N	BMX_ENST00000348343.6_Missense_Mutation_p.S218N|BMX_ENST00000342014.6_Missense_Mutation_p.S218N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	218					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CAATATGACAGCAACTCAAAG	0.438000													3	67					0	0	0.115264	0	0
CYP3A4	1576	broad.mit.edu	37	7	99366067	99366067	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr7:99366067C>T	ENST00000354593.2	-	2	233	c.130G>A	c.(130-132)Gac>Aac	p.D44N	CYP3A4_ENST00000336411.2_Missense_Mutation_p.D194N			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	194					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGAGAGAGTCGATGTTCACT	0.403000													5	144					0	0	0.184627	0	0
MSH3	4437	broad.mit.edu	37	5	79974807	79974807	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:79974807C>G	ENST00000265081.6	+	8	1315	c.1235C>G	c.(1234-1236)tCa>tGa	p.S412*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	412					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCTTCTCGTTCAGAGCTAGAA	0.488000								Mismatch excision repair (MMR)					6	224					0	0	0.248553	0	0
IMPG2	50939	broad.mit.edu	37	3	100948367	100948367	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr3:100948367C>G	ENST00000193391.7	-	17	3677	c.3490G>C	c.(3490-3492)Gaa>Caa	p.E1164Q		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1164					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTGTGACTTTCATACACGGGG	0.507000													3	119					0	0	0.115264	0	0
DNAH6	1768	broad.mit.edu	37	2	84811283	84811283	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr2:84811283G>C	ENST00000389394.3	+	15	2527	c.2390G>C	c.(2389-2391)aGa>aCa	p.R797T	DNAH6_ENST00000237449.6_Missense_Mutation_p.R797T|DNAH6_ENST00000398278.2_Missense_Mutation_p.R797T	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	797	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTGGGTGATAGAGAATCAAGC	0.398000													4	177					0	0	0.150653	0	0
DNAH5	1767	broad.mit.edu	37	5	13729630	13729630	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr5:13729630G>A	ENST00000265104.4	-	69	11905	c.11801C>T	c.(11800-11802)cCa>cTa	p.P3934L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3934					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATTTTGATGGTTTTGGAGG	0.358000									Kartagener syndrome				4	117					0	0	0.150653	0	0
AGAP11	119385	broad.mit.edu	37	10	88753099	88753100	+	RNA	INS	-	-	T			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr10:88753099_88753100insT	ENST00000444431.1	+	0	64				RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AATGAGTTTACTTTTTTTTTTA	0.307													8	24	---	---	---	---					
PANX2	56666	broad.mit.edu	37	22	50616632	50616633	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FD-A3B8-01A-31D-A20D-08	TCGA-FD-A3B8-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7957bb77-8329-43a0-b1a8-140f2cb6b91b	83376d89-33f8-4ade-969d-d69391dd7cd8	g.chr22:50616632_50616633delTG	ENST00000395842.2	+	2	1491_1492	c.1491_1492delTG	c.(1489-1494)cctgccfs	p.A498fs	PANX2_ENST00000159647.5_Frame_Shift_Del_p.A498fs	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	498					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		gccccgcccctgcccccgcccc	0.748													3	5	---	---	---	---