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
HELZ	9931	broad.mit.edu	37	17	65083148	65083148	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:65083148G>T	ENST00000358691.5	-	32	5457	c.5291C>A	c.(5290-5292)tCt>tAt	p.S1764Y	HELZ_ENST00000580168.1_Missense_Mutation_p.S1765Y	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AACTGAGCTAGATGAGATTCT	0.438000													9	39					2.17888e-05	2.27193e-05	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219896381	219896381	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:219896381C>T	ENST00000341552.5	-	7	729		c.e7-1		CCDC108_ENST00000441968.1_Splice_Site|CCDC108_ENST00000409865.3_Splice_Site|CCDC108_ENST00000410037.1_Splice_Site|CCDC108_ENST00000453220.1_Splice_Site	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTACTCCTTCTGCAGTGTGA	0.642000													28	21					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7187949	7187949	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:7187949G>A	ENST00000317370.8	+	7	1141	c.873G>A	c.(871-873)gcG>gcA	p.A291A	SLC2A4_ENST00000571308.1_Silent_p.A291A|SLC2A4_ENST00000424875.2_Silent_p.A281A	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	291					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TGATCATTGCGGTCGTGCTGC	0.647000													19	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418814	179418814	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:179418814T>C	ENST00000589042.1	-	333	89248	c.89024A>G	c.(89023-89025)aAg>aGg	p.K29675R	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K27107R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K20802R|TTN_ENST00000591111.1_Missense_Mutation_p.K28034R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K20735R|TTN_ENST00000460472.2_Missense_Mutation_p.K20610R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28034	Fibronectin type-III 116.						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)			TAGGCTCTTCTTGTCTCGTTT	0.403000													53	89					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365948	30365948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr16:30365948C>A	ENST00000305596.3	-	2	230	c.55G>T	c.(55-57)Gaa>Taa	p.E19*	CD2BP2_ENST00000569466.1_Nonsense_Mutation_p.E19*	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	19					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						ACAATGATTTCATCCTCATCC	0.542000													35	178					1.07637e-12	1.18118e-12	1	1	0
C3orf58	205428	broad.mit.edu	37	3	143691520	143691520	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:143691520C>T	ENST00000315691.3	+	1	881	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	C3orf58_ENST00000493396.1_3'UTR	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	116						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGGCTCGCAGCGCGAGCTGGC	0.721000													17	19					0	0	1	0	0
CCDC172	374355	broad.mit.edu	37	10	118101652	118101652	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr10:118101652G>T	ENST00000333254.3	+	5	638	c.387G>T	c.(385-387)atG>atT	p.M129I	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		AGCTTTTGATGAAAGAAAATG	0.274000													43	81					1.6237e-14	1.79526e-14	1	1	0
COPG1	22820	broad.mit.edu	37	3	128982806	128982806	+	Silent	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:128982806C>G	ENST00000314797.6	+	13	1292	c.1188C>G	c.(1186-1188)gtC>gtG	p.V396V		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	396					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										AACACGCCGTCCTTATGAACT	0.567000													8	44					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797677	42797677	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr6:42797677G>A	ENST00000314073.5	+	6	1782	c.1606G>A	c.(1606-1608)Gga>Aga	p.G536R	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.G536R					GLTSCR1-like									p.G536*(1)									AAGCATGTCAGGACCTAGTCG	0.552000													7	32					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118124521	118124521	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chrX:118124521G>C	ENST00000304778.7	+	4	1453	c.1290G>C	c.(1288-1290)atG>atC	p.M430I	LONRF3_ENST00000422289.2_Missense_Mutation_p.M215I|LONRF3_ENST00000371628.3_Missense_Mutation_p.M471I|LONRF3_ENST00000472173.1_3'UTR	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	471					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTCTATGTATGAGGTACGTCC	0.468000													38	8					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258048	18258048	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:18258048C>T	ENST00000286479.3	+	2	642	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	NAT2_ENST00000520116.1_Missense_Mutation_p.H49Y	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	179					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TCTTAATTCTCATCTCCTGCC	0.383000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				5	39					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	654369	654369	+	Silent	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr4:654369G>T	ENST00000255622.6	+	12	1624	c.1581G>T	c.(1579-1581)ctG>ctT	p.L527L	PDE6B_ENST00000429163.2_Silent_p.L248L|PDE6B_ENST00000496514.1_Silent_p.L527L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	527			L -> P (in RP40; autosomal recessive).		cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACTACGAGCTGGGCGTGGTCC	0.597000													7	17					1.12685e-05	1.17917e-05	1	1	0
SPATA31A1	647060	broad.mit.edu	37	9	39360998	39360998	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:39360998G>A	ENST00000377647.3	+	4	3265	c.3236G>A	c.(3235-3237)aGa>aAa	p.R1079K		NM_001085452.1	NP_001078921.1			SPATA31 subfamily A, member 1																		ATGGCAGCCAGAAGGAGCAAA	0.532000													43	59					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53540691	53540691	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:53540691C>T	ENST00000025008.5	-	22	5060	c.4537G>A	c.(4537-4539)Gaa>Aaa	p.E1513K	RB1CC1_ENST00000539297.1_Missense_Mutation_p.E1513K|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E1513K|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1513					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCATGGCGTTCGTCTAGGATG	0.383000													23	69					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17394676	17394676	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:17394676G>A	ENST00000380647.3	+	15	2308	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	CNTLN_ENST00000262360.5_Missense_Mutation_p.E742K|CNTLN_ENST00000425824.1_Missense_Mutation_p.E742K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	742						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGAGAAAAAGAGCTAGAACA	0.328000													5	25					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	106888854	106888854	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:106888854C>G	ENST00000393603.2	-	17	2204	c.1933G>C	c.(1933-1935)Gaa>Caa	p.E645Q	COG5_ENST00000297135.3_Missense_Mutation_p.E645Q|COG5_ENST00000347053.3_Missense_Mutation_p.E624Q	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	624					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAAAAGTCTTCTTGATGCATG	0.393000													34	43					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16979618	16979618	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr10:16979618C>T	ENST00000377833.4	-	39	5964	c.5899G>A	c.(5899-5901)Gat>Aat	p.D1967N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1967					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAACACCATCAGGTGCATCC	0.413000													8	39					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186507037	186507037	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:186507037G>A	ENST00000323963.5	+	11	1267	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	EIF4A2_ENST00000440191.2_Missense_Mutation_p.M402I|EIF4A2_ENST00000356531.5_Missense_Mutation_p.M306I			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	401	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AGATGCCCATGAATGTGGCTG	0.433000			T	BCL6	NHL								31	87					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70546313	70546313	+	Silent	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr16:70546313C>G	ENST00000323786.5	-	5	588	c.567G>C	c.(565-567)ctG>ctC	p.L189L	COG4_ENST00000393612.4_Silent_p.L185L|COG4_ENST00000564653.1_Intron	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	185					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GCAGCAATTTCAGGTTGGCAT	0.473000													5	14					0	0	1	0	0
THEM4	117145	broad.mit.edu	37	1	151849488	151849488	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:151849488G>C	ENST00000368814.3	-	5	1020	c.671C>G	c.(670-672)tCa>tGa	p.S224*		NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	224					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane				endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTCGCCTCTGAGTATAGGGT	0.393000													12	102					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120613012	120613012	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:120613012G>A	ENST00000300648.6	-	12	1058	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	349					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTCCTTCCGAGCCTGAGAA	0.408000													20	53					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44281934	44281934	+	Silent	SNP	C	C	A	rs150221609		TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:44281934C>A	ENST00000395749.2	-	10	778	c.702G>T	c.(700-702)ccG>ccT	p.P234P	CAMK2B_ENST00000440254.2_Silent_p.P234P|CAMK2B_ENST00000358707.3_Silent_p.P234P|CAMK2B_ENST00000457475.1_Silent_p.P234P|CAMK2B_ENST00000502837.2_Silent_p.P105P|CAMK2B_ENST00000395747.2_Silent_p.P234P|CAMK2B_ENST00000350811.3_Silent_p.P234P|CAMK2B_ENST00000346990.4_Silent_p.P234P|CAMK2B_ENST00000353625.4_Silent_p.P234P|CAMK2B_ENST00000347193.4_Silent_p.P234P|CAMK2B_ENST00000258682.6_Silent_p.P234P	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	234	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ACTCAGGGGACGGGAACTGCA	0.597000													17	42					3.32936e-07	3.57327e-07	1	1	0
ZNF480	147657	broad.mit.edu	37	19	52825831	52825831	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:52825831C>T	ENST00000595962.1	+	5	1394	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L	ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.S366L|ZNF480_ENST00000334564.7_Missense_Mutation_p.S400L	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCAGGCCTTTCAGCCCATCTT	0.398000													17	98					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111264032	111264032	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:111264032G>A	ENST00000352690.4	+	2	441	c.201G>A	c.(199-201)ctG>ctA	p.L67L	CD96_ENST00000438817.2_Silent_p.L67L|CD96_ENST00000283285.5_Silent_p.L67L	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	67	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGATAGACCTGATTGCTGTCT	0.473000									Opitz Trigonocephaly syndrome				16	60					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	100996217	100996217	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:100996217G>A	ENST00000284382.4	-	12	1303	c.880C>T	c.(880-882)Cac>Tac	p.H294Y	CERS3_ENST00000394113.1_Missense_Mutation_p.H294Y|CERS3_ENST00000538112.2_Missense_Mutation_p.H294Y|CERS3_ENST00000560944.1_Intron	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	294	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GGCTCGAGGTGATACATAGGC	0.378000													8	17					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230272012	230272012	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:230272012C>T	ENST00000341772.4	-	10	1793	c.1659G>A	c.(1657-1659)ctG>ctA	p.L553L		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	553	EGF-like 9.|Follistatin-like.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGGCTCCGTTCAGACAGCTGA	0.522000													28	42					0	0	1	0	0
SRR	63826	broad.mit.edu	37	17	2224633	2224633	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:2224633G>C	ENST00000344595.5	+	5	751	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	145					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGTTACAGAAGAAACAGAAGG	0.408000													40	51					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2595561	2595561	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr18:2595561G>A	ENST00000261597.4	+	11	1344	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	388	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAAGGACCTGGAAGCTGAACA	0.393000													15	57					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241969871	241969871	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:241969871C>T	ENST00000310397.8	+	2	384	c.384C>T	c.(382-384)cgC>cgT	p.R128R	SNED1_ENST00000342631.6_Silent_p.R128R|SNED1_ENST00000401884.1_Silent_p.R128R|SNED1_ENST00000405547.3_Silent_p.R128R|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	128	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCATGCTGCGCCGAGCCACGG	0.632000													10	14					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669283	99669283	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:99669283C>T	ENST00000303915.6	-	5	1791	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	ZNF3_ENST00000424697.1_Missense_Mutation_p.R275Q|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.R275Q			P17036	ZNF3_HUMAN	zinc finger protein 3	275					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GTGGATCCTCCGATGCAGAAT	0.498000													8	47					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58238813	58238813	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:58238813G>A	ENST00000317398.6	-	1	179	c.84C>T	c.(82-84)ctC>ctT	p.L28L	ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000596939.1_Silent_p.L28L|ZNF671_ENST00000594803.1_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGCTGCCGGGAGCGGCAGGC	0.687000													7	18					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137488175	137488175	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr5:137488175G>C	ENST00000254900.5	-	21	3223	c.2852C>G	c.(2851-2853)tCt>tGt	p.S951C		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	951					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTTACCTCAGAGAGAAAGTG	0.458000													59	40					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132257909	132257909	+	RNA	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:132257909C>G	ENST00000438378.2	+	0	632					NR_026922.1																						GATGGAATTTCTCGACACTGG	0.507000													5	24					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123166414	123166414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:123166414C>A	ENST00000462833.1	-	1	2191	c.979G>T	c.(979-981)Gag>Tag	p.E327*		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	327					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAGATGCCCTCAGAGGCGCTG	0.682000													9	11					7.48243e-07	7.97219e-07	1	1	0
SMAP1	60682	broad.mit.edu	37	6	71508402	71508402	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr6:71508402G>A	ENST00000370455.3	+	6	786	c.538G>A	c.(538-540)Gag>Aag	p.E180K	SMAP1_ENST00000370452.3_Missense_Mutation_p.E153K|SMAP1_ENST00000316999.5_Missense_Mutation_p.E153K	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	180					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						gagagaaaAGGAGCCAGAAAA	0.269000													3	11					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154573836	154573836	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:154573836C>G	ENST00000368474.4	-	2	1481	c.1282G>C	c.(1282-1284)Gaa>Caa	p.E428Q	ADAR_ENST00000292205.5_Missense_Mutation_p.E471Q|ADAR_ENST00000368471.3_Missense_Mutation_p.E133Q	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	428					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTTGCTGGTTCTGGTCTGGCC	0.463000													56	131					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160189181	160189181	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:160189181C>T	ENST00000392783.2	-	34	6308	c.5813G>A	c.(5812-5814)cGa>cAa	p.R1938Q	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1904Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1838Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1902Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1938					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATCTCCCTTTCGACAGATTTG	0.368000													8	50					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32917777	32917777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:32917777G>T	ENST00000361627.3	+	6	1527	c.805G>T	c.(805-807)Gaa>Taa	p.E269*	ARHGAP11A_ENST00000567348.1_Nonsense_Mutation_p.E269*|ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.E80*|ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.E80*|ARHGAP11A_ENST00000563864.1_Nonsense_Mutation_p.E269*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	269					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGGCTTTGAAGAAGGTGAATA	0.418000													27	86					7.41945e-09	8.02177e-09	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55151562	55151562	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr4:55151562C>T	ENST00000257290.5	+	17	2679	c.2348C>T	c.(2347-2349)tCa>tTa	p.S783L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S543L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	783	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AACCTCCTTTCAGATGATAAC	0.413000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			25	43					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170978	113170978	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:113170978G>A	ENST00000401783.2	-	38	7238	c.6902C>T	c.(6901-6903)tCt>tTt	p.S2301F	SVEP1_ENST00000374469.1_Missense_Mutation_p.S2278F|SVEP1_ENST00000297826.5_Missense_Mutation_p.S227F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2301	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.S2304Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACATGTCCAAGAACTGTCACC	0.463000													11	58					0	0	1	0	0
DNAJA4	55466	broad.mit.edu	37	15	78566538	78566538	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:78566538G>A	ENST00000394855.3	+	5	733		c.e5-1		DNAJA4_ENST00000446172.2_Splice_Site|DNAJA4_ENST00000343789.3_Splice_Site|DNAJA4_ENST00000394852.3_Splice_Site	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4						protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						TGACCCTGCAGGTGTTGGTGG	0.622000													4	11					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15943760	15943760	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:15943760G>A	ENST00000268712.3	-	43	6985	c.6728C>T	c.(6727-6729)aCg>aTg	p.T2243M	AC002553.1_ENST00000442828.1_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2140M|NCOR1_ENST00000395857.3_Missense_Mutation_p.T827M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2243	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTACCTGACGTAGTAACTGC	0.368000													24	35					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118575276	118575276	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:118575276G>C	ENST00000263239.2	+	2	470	c.342G>C	c.(340-342)aaG>aaC	p.K114N	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	114	Poly-Lys.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAAGAAAAAGAGAAAAATGG	0.348000													38	66					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64599034	64599034	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:64599034C>T	ENST00000498707.1	-	22	3683	c.3341G>A	c.(3340-3342)gGt>gAt	p.G1114D	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1086D	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1114	TSP type-1 6.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCCCAGGGACCCGCCTGCCA	0.468000													9	46					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27455936	27455936	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr16:27455936C>T	ENST00000337929.3	+	6	1054	c.581C>T	c.(580-582)tCg>tTg	p.S194L	IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Missense_Mutation_p.S194L|IL21R_ENST00000395755.1_Missense_Mutation_p.S194L|IL21R_ENST00000564089.1_Missense_Mutation_p.S194L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	194	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CGCAAAGACTCGAGCTATGAG	0.582000			T	BCL6	NHL								14	42					0	0	1	0	0
SPATA31A2	642265	broad.mit.edu	37	9	39890249	39890249	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:39890249G>A	ENST00000456183.2	+	4	3265	c.3236G>A	c.(3235-3237)aGa>aAa	p.R1079K		NM_001040065.1	NP_001035154.1			SPATA31 subfamily A, member 2																		ATGGCAGCCAGAAGGAGCAAA	0.532000													51	48					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64497845	64497845	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr14:64497845G>A	ENST00000358025.3	+	45	7221	c.6991G>A	c.(6991-6993)Gat>Aat	p.D2331N	SYNE2_ENST00000554584.1_Missense_Mutation_p.D2331N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.D2331N	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2331					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATTAAAGATGATATAAAATC	0.348000													26	68					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75685103	75685103	+	Silent	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:75685103G>C	ENST00000394947.3	-	15	2645	c.2331C>G	c.(2329-2331)ctC>ctG	p.L777L	SIN3A_ENST00000394949.4_Silent_p.L777L|SIN3A_ENST00000360439.4_Silent_p.L777L	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	777	Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ACGCAAGTGAGAGGTGTGGGC	0.478000													13	76					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113348959	113348959	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:113348959C>T	ENST00000297405.5	-	44	7185	c.6941G>A	c.(6940-6942)aGa>aAa	p.R2314K	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2244K|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2274K|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2210K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2314	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGGGGTACTCTTACAAGCCA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	182					0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108614975	108614975	+	Silent	SNP	T	T	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr4:108614975T>C	ENST00000265174.4	-	3	635	c.363A>G	c.(361-363)gcA>gcG	p.A121A	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	121					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AGCCAGCATCTGCAAACAGTT	0.403000													18	34					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43155715	43155715	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr6:43155715G>T	ENST00000252050.4	+	7	1930	c.1846G>T	c.(1846-1848)Gcc>Tcc	p.A616S	CUL9_ENST00000354495.3_Missense_Mutation_p.A506S|CUL9_ENST00000372647.2_Missense_Mutation_p.A616S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	616					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAAAGCAAAGGCCGAGGCCCC	0.552000													7	34					1.12685e-05	1.17917e-05	1	1	0
BNIPL	149428	broad.mit.edu	37	1	151016199	151016199	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:151016199C>G	ENST00000295294.7	+	7	1210	c.601C>G	c.(601-603)Cgg>Ggg	p.R201G	BNIPL_ENST00000368931.3_Missense_Mutation_p.R283G	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	283	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TACCCTGGATCGGCGGTGAGA	0.448000													11	49					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3786650	3786650	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr16:3786650C>T	ENST00000262367.5	-	27	5370		c.e27+1		CREBBP_ENST00000382070.3_Splice_Site	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein						cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCGCCGGGTACCTTGTAGTCA	0.473000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						19	63					0	0	1	0	0
GCH1	2643	broad.mit.edu	37	14	55310582	55310582	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr14:55310582G>C	ENST00000543643.2	-	6	775	c.632C>G	c.(631-633)tCa>tGa	p.S211*	GCH1_ENST00000536224.2_Intron|GCH1_ENST00000395514.1_Intron|GCH1_ENST00000491895.2_3'UTR|GCH1_ENST00000254299.4_5'UTR	NM_001024070.1	NP_001019241.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	211			M -> I (in GCH1D; severe hyperphenylalaninemia).|M -> V (in DYT5).		dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			endometrium(2)|lung(7)|skin(2)	11						ATATTTATTTGACTTCCTAGa	0.323000													9	17					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20992754	20992754	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:20992754G>C	ENST00000247986.2	-	14	3174	c.2864C>G	c.(2863-2865)tCt>tGt	p.S955C	KIF17_ENST00000400463.3_Missense_Mutation_p.S954C|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.S855C			Q9P2E2	KIF17_HUMAN	kinesin family member 17	955					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGCCCGCTTAGATCGGAAGTA	0.597000													20	69					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1808044	1808044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr4:1808044C>T	ENST00000340107.4	+	15	2282	c.2026C>T	c.(2026-2028)Cag>Tag	p.Q676*	FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000352904.1_Nonsense_Mutation_p.Q562*|FGFR3_ENST00000260795.2_Nonsense_Mutation_p.Q674*|FGFR3_ENST00000412135.2_Nonsense_Mutation_p.Q562*|FGFR3_ENST00000440486.2_Nonsense_Mutation_p.Q674*	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	674	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTACACTCACCAGAGTGACGT	0.667000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				7	27					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32953526	32953526	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr13:32953526C>G	ENST00000544455.1	+	22	9054	c.8827C>G	c.(8827-8829)Cag>Gag	p.Q2943E	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q2943E	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2943					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAACAAGCTCAGATCCAGTT	0.388000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			15	38					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53346346	53346346	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:53346346C>T	ENST00000607628.1	-	5	544	c.435G>A	c.(433-435)caG>caA	p.Q145Q	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Silent_p.Q145Q|DCP1A_ENST00000294241.6_Silent_p.Q145Q	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	145					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		AGCCATTGGCCTGGCTGGGAC	0.562000													9	24					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57532322	57532322	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:57532322G>A	ENST00000243077.3	+	2	614	c.148G>A	c.(148-150)Gag>Aag	p.E50K	LRP1_ENST00000338962.4_Missense_Mutation_p.E50K|LRP1_ENST00000554174.1_Missense_Mutation_p.E50K|LRP1_ENST00000553277.1_Missense_Mutation_p.E50K	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	50	LDL-receptor class A 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGCGACGGTGAGAGGGACTG	0.517000													38	50					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93624499	93624499	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:93624499G>A	ENST00000375754.4	+	4	738	c.590G>A	c.(589-591)aGa>aAa	p.R197K	SYK_ENST00000375746.1_Missense_Mutation_p.R197K|SYK_ENST00000375747.1_Missense_Mutation_p.R197K|SYK_ENST00000375751.4_Missense_Mutation_p.R197K	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	197	SH2 2.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						ATCCGAGCCAGAGACAACAAC	0.602000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								7	10					0	0	1	0	0
TUT1	64852	broad.mit.edu	37	11	62343415	62343415	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr11:62343415G>A	ENST00000476907.1	-	9	2467	c.1776C>T	c.(1774-1776)ctC>ctT	p.L592L	MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Silent_p.L630L			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	592					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCAGAAGAGGGAGCAGCCCCC	0.662000													4	41					0	0	1	0	0
POLR2J4	84820	broad.mit.edu	37	7	44005505	44005505	+	RNA	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:44005505C>T	ENST00000427076.1	-	0	1387				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2																						GGGCTGCAGCCGGAACCAGCC	0.632000													8	33					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94564537	94564537	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:94564537C>G	ENST00000370225.3	-	6	667	c.581G>C	c.(580-582)gGa>gCa	p.G194A	ABCA4_ENST00000535735.1_Missense_Mutation_p.G194A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	194					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCCGGGACTCCATGAGCGAA	0.582000													4	14					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41812428	41812428	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:41812428G>A	ENST00000392006.3	+	15	2702	c.2529G>A	c.(2527-2529)ggG>ggA	p.G843G	HNRNPUL1_ENST00000263367.3_Silent_p.G754G|HNRNPUL1_ENST00000593587.1_Silent_p.G743G|HNRNPUL1_ENST00000352456.3_Silent_p.G753G|HNRNPUL1_ENST00000595018.1_Silent_p.G743G|HNRNPUL1_ENST00000378215.4_Silent_p.G739G|HNRNPUL1_ENST00000602130.1_Silent_p.G791G	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	843	Necessary for interaction with TP53.|Tyr-rich.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						ACGACTACGGGAGCTACTCCG	0.602000													13	67					0	0	1	0	0
CLDN22	53842	broad.mit.edu	37	4	184240843	184240843	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr4:184240843G>C	ENST00000323319.5	-	1	1084	c.529C>G	c.(529-531)Ctg>Gtg	p.L177V	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	177					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CCTCCTAGCAGAAGAGAAAGT	0.572000													13	51					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:25398281C>T	ENST00000311936.3	-	2	229	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000256078.4_Missense_Mutation_p.G13D|KRAS_ENST00000556131.1_Missense_Mutation_p.G13D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338000	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			169	49					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4529829	4529829	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:4529829C>T	ENST00000381848.3	-	4	386	c.306G>A	c.(304-306)gaG>gaA	p.E102E	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	102						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						AGGGAAGCTTCTCTTCCAGCT	0.627000													13	46					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331895	83331895	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:83331895G>C	ENST00000261722.3	-	21	2738	c.2531C>G	c.(2530-2532)tCc>tGc	p.S844C	AP3B2_ENST00000535348.1_Missense_Mutation_p.S812C|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.S863C	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	844					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TACCAGGGTGGAGTCTGTGAG	0.627000													6	11					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48290565	48290565	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr16:48290565G>A	ENST00000285737.4	+	3	606	c.513G>A	c.(511-513)ttG>ttA	p.L171L	LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	171	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTGCTAAATTGAGACGTCTTT	0.378000													48	54					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207648249	207648249	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:207648249G>A	ENST00000367057.3	+	14	2593	c.2404G>A	c.(2404-2406)Gaa>Aaa	p.E802K	CR2_ENST00000367058.3_Missense_Mutation_p.E743K|CR2_ENST00000367059.3_Missense_Mutation_p.E743K|CR2_ENST00000458541.2_Missense_Mutation_p.E716K	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	875	Sushi 13.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATATGGAAATGAAGTCTCTTA	0.438000													9	59					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108380189	108380189	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr10:108380189C>T	ENST00000263054.6	-	20	2800	c.2793G>A	c.(2791-2793)acG>acA	p.T931T	SORCS1_ENST00000369698.1_Silent_p.T466T|SORCS1_ENST00000344440.6_Silent_p.T931T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	931						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCCACCTCCGTGTTGTTTC	0.527000													16	82					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220621	130220621	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chrX:130220621A>G	ENST00000276211.5	+	11	1813	c.1468A>G	c.(1468-1470)Agc>Ggc	p.S490G	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S354G|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S478G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	490					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCTTGCTCAAAGCAAGCCTTC	0.537000													23	11					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90172608	90172608	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:90172608C>T	ENST00000394412.3	-	17	3591	c.3515G>A	c.(3514-3516)cGa>cAa	p.R1172Q		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1172					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGCTCACCTCGACTCTGCTG	0.716000													4	9					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108380188	108380188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr10:108380188C>A	ENST00000263054.6	-	20	2801	c.2794G>T	c.(2794-2796)Gag>Tag	p.E932*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.E467*|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E932*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	932						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GAACCCACCTCCGTGTTGTTT	0.522000													16	80					9.16793e-09	9.87575e-09	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50531764	50531764	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr10:50531764G>A	ENST00000374144.3	+	3	1462	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	C10orf71_ENST00000323868.4_Missense_Mutation_p.E392K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	392										endometrium(1)	1						AAAAGGGAAAGAAAGTCTACA	0.458000													15	54					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138189078	138189078	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:138189078G>A	ENST00000343526.4	+	2	623	c.408G>A	c.(406-408)gaG>gaA	p.E136E	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Silent_p.E136E			O15164	TIF1A_HUMAN	tripartite motif containing 24	136					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AATGTGCAGAGAGACACATCA	0.363000													16	117					0	0	1	0	0
NOXRED1	122945	broad.mit.edu	37	14	77872263	77872263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr14:77872263G>A	ENST00000380835.2	-	5	1064	c.898C>T	c.(898-900)Cag>Tag	p.Q300*		NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	300					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						TACCTTTCCTGAGACAAATTC	0.408000													10	14					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544451	82544451	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:82544451C>A	ENST00000333891.9	-	7	13188	c.12851G>T	c.(12850-12852)aGt>aTt	p.S4284I	PCLO_ENST00000423517.2_Missense_Mutation_p.S4284I|PCLO_ENST00000437081.1_Missense_Mutation_p.S1004I	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTGCCACTACTGTATGGCTT	0.458000													4	4					0.150653	0.150653	1	1	0
UTP20	27340	broad.mit.edu	37	12	101732699	101732699	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:101732699G>C	ENST00000261637.4	+	31	4151	c.3977G>C	c.(3976-3978)aGa>aCa	p.R1326T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1326					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAAAAGAATAGAGCACAAGTC	0.323000													5	27					0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41262687	41262687	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr4:41262687G>C	ENST00000284440.4	+	4	342	c.198G>C	c.(196-198)caG>caC	p.Q66H	UCHL1_ENST00000503431.1_Missense_Mutation_p.Q66H|UCHL1_ENST00000508768.1_Missense_Mutation_p.Q66H|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000512788.1_Missense_Mutation_p.Q66H	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	66					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GGAAAAAGCAGATTGAAGAGC	0.428000													8	20					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12955005	12955005	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:12955005C>T	ENST00000273221.4	-	9	2497	c.2281G>A	c.(2281-2283)Gag>Aag	p.E761K		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	761					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTGGAACCTCAAAGAGCCGG	0.597000													9	10					0	0	1	0	0
HADH	3033	broad.mit.edu	37	4	108911038	108911038	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr4:108911038C>T	ENST00000403312.1	+	1	169	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	HADH_ENST00000603302.1_5'UTR|HADH_ENST00000309522.3_5'UTR	NM_001184705.2	NP_001171634.2	Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	0					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	CTGCCCGCCTCGCGCGTCTTC	0.741000													7	2					0	0	1	0	0
TMEM87A	25963	broad.mit.edu	37	15	42512273	42512273	+	Silent	SNP	C	C	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:42512273C>A	ENST00000389834.4	-	16	1728	c.1464G>T	c.(1462-1464)ctG>ctT	p.L488L	RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Silent_p.L427L	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	488						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AGCTTTCTTTCAGCATAGGCT	0.313000													10	54					1.58986e-06	1.67565e-06	1	1	0
MBTPS1	8720	broad.mit.edu	37	16	84093022	84093022	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr16:84093022G>T	ENST00000343411.3	-	21	3211	c.2716C>A	c.(2716-2718)Cat>Aat	p.H906N		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	906					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAGTACCGATGAAGATGGTTT	0.468000													3	17					0.150653	0.150653	1	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83442829	83442829	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chrX:83442829C>T	ENST00000262752.2	-	1	86	c.79G>A	c.(79-81)Gag>Aag	p.E27K	RPS6KA6_ENST00000543399.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	27					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACACTAACCTCGCCGCTGCTC	0.647000													5	5					0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139265142	139265142	+	Silent	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:139265142G>C	ENST00000371732.5	-	5	804	c.639C>G	c.(637-639)ctC>ctG	p.L213L	CARD9_ENST00000371734.3_Silent_p.L213L|CARD9_ENST00000315908.7_Silent_p.L213L	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	213					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGCTGTGCTTGAGCTGGTCAA	0.682000													9	46					0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41196516	41196516	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr6:41196516C>G	ENST00000341495.2	+	2	232	c.128C>G	c.(127-129)tCa>tGa	p.S43*	TREML4_ENST00000448827.2_Nonsense_Mutation_p.S43*	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	43	Ig-like V-type.					extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGCCAGTACTCACCCAAGAGA	0.547000													9	67					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26239779	26239779	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr22:26239779T>G	ENST00000335473.7	+	18	3536	c.3286T>G	c.(3286-3288)Tac>Gac	p.Y1096D	MYO18B_ENST00000407587.2_Missense_Mutation_p.Y1097D|MYO18B_ENST00000536101.1_Missense_Mutation_p.Y1096D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1096	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCTGTGCGGTACGACCTCAC	0.612000													6	57					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7612764	7612764	+	Missense_Mutation	SNP	G	G	A	rs146210312		TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:7612764G>A	ENST00000226091.2	+	5	1290	c.893G>A	c.(892-894)cGg>cAg	p.R298Q		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	298					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				ATAGCTCTGCGGGGTGGCGGG	0.667000													7	25					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.E20K(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557000													15	166					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49050906	49050906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr13:49050906G>T	ENST00000267163.4	+	25	2728	c.2590G>T	c.(2590-2592)Gaa>Taa	p.E864*	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	864	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.E864*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGAAGTGCTGAAGGAAGCAA	0.378000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			21	55					2.37509e-13	2.61617e-13	1	1	0
PIGT	51604	broad.mit.edu	37	20	44048164	44048164	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr20:44048164G>A	ENST00000279036.6	+	5	695	c.615G>A	c.(613-615)ctG>ctA	p.L205L	PIGT_ENST00000372689.5_Silent_p.L205L|PIGT_ENST00000279035.9_Silent_p.L103L|PIGT_ENST00000543458.2_Silent_p.L149L|PIGT_ENST00000535404.1_Silent_p.L50L|PIGT_ENST00000545755.1_5'UTR|PIGT_ENST00000341555.5_Intron	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	205					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CTGTGCTGCTGAAGGCAGATC	0.567000													78	51					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106160580	106160580	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr10:106160580G>C	ENST00000369704.3	+	13	2092	c.1958G>C	c.(1957-1959)aGa>aCa	p.R653T		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	653										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAGGACATGAGAATCCTCAGA	0.448000													15	63					0	0	1	0	0
ORC4	5000	broad.mit.edu	37	2	148705722	148705722	+	Silent	SNP	T	T	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:148705722T>A	ENST00000392857.5	-	9	767	c.660A>T	c.(658-660)tcA>tcT	p.S220S	ORC4_ENST00000535373.1_Silent_p.S220S|ORC4_ENST00000536575.1_Silent_p.S136S|ORC4_ENST00000392858.1_Silent_p.S220S|ORC4_ENST00000540442.1_Silent_p.S146S|ORC4_ENST00000542387.1_Silent_p.S3S|ORC4_ENST00000264169.2_Silent_p.S220S	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4						cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						GAAAACCAAATGAATTCATTA	0.328000													23	43					0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127379869	127379869	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:127379869C>A	ENST00000342480.6	+	3	1037	c.998C>A	c.(997-999)tCt>tAt	p.S333Y		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	333					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						ACCTCAGCCTCTTCCCCACTG	0.587000													8	29					0.000274275	0.000283967	1	1	0
PRPF6	24148	broad.mit.edu	37	20	62664233	62664233	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr20:62664233G>A	ENST00000535781.1	+	20	2704	c.2593G>A	c.(2593-2595)Gag>Aag	p.E865K	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	905					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TGAGAGTGCAGAGCCTCGGCA	0.662000													3	18					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4858863	4858863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:4858863G>T	ENST00000323997.6	+	8	961	c.829G>T	c.(829-831)Gga>Tga	p.G277*	ENO3_ENST00000518175.1_Nonsense_Mutation_p.G277*|ENO3_ENST00000519584.1_Nonsense_Mutation_p.G234*	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	277					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGAGAAGCTCGGAGAGCTGTA	0.517000													31	205					2.81731e-10	3.06867e-10	1	1	0
BBS5	129880	broad.mit.edu	37	2	170343604	170343604	+	Silent	SNP	A	A	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:170343604A>G	ENST00000295240.3	+	3	544	c.168A>G	c.(166-168)agA>agG	p.R56R	BBS5_ENST00000554017.1_Silent_p.R56R|RP11-724O16.1_ENST00000513963.1_Silent_p.R56R|BBS5_ENST00000392663.2_Silent_p.R56R	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5											endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAAATTTAAGAATTCTCTGGC	0.328000									Bardet-Biedl syndrome				6	167					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27185503	27185503	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:27185503C>T	ENST00000222728.3	-	2	500	c.476G>A	c.(475-477)cGc>cAc	p.R159H	HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_5'UTR	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GTAGGTCTGGCGGCCTCGGCG	0.662000													37	82					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5780726	5780726	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:5780726C>T	ENST00000425013.2	-	4	975	c.751G>A	c.(751-753)Gat>Aat	p.D251N	RNF216_ENST00000389902.3_Missense_Mutation_p.D308N	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	251					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGCTCTTCATCATCACTTGCT	0.522000													32	70					0	0	1	0	0
TM4SF18	116441	broad.mit.edu	37	3	149048195	149048195	+	Silent	SNP	T	T	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:149048195T>C	ENST00000296059.2	-	3	454	c.189A>G	c.(187-189)gtA>gtG	p.V63V	TM4SF18_ENST00000470080.1_Silent_p.V63V|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	63						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAACTGTTGTTACTATAAGCA	0.348000													14	12					0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33343554	33343554	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:33343554G>C	ENST00000315249.7	-	5	943	c.721C>G	c.(721-723)Ctg>Gtg	p.L241V	RFFL_ENST00000268850.7_Missense_Mutation_p.L213V|RFFL_ENST00000413582.2_Missense_Mutation_p.L241V|RFFL_ENST00000415395.2_Missense_Mutation_p.L241V|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.L158V|RFFL_ENST00000584655.1_Missense_Mutation_p.L213V|RFFL_ENST00000394597.2_Missense_Mutation_p.L241V|RFFL_ENST00000378516.2_Missense_Mutation_p.L241V|RFFL_ENST00000447669.2_Missense_Mutation_p.L241V			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	241					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGGTCAGACAGAGAGGCCCTT	0.522000													16	106					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2595325	2595325	+	Silent	SNP	C	C	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:2595325C>A	ENST00000399655.1	+	6	1078	c.813C>A	c.(811-813)atC>atA	p.I271I	CACNA1C_ENST00000399603.1_Silent_p.I271I|CACNA1C_ENST00000399591.1_Silent_p.I271I|CACNA1C_ENST00000399637.1_Silent_p.I271I|CACNA1C_ENST00000406454.3_Silent_p.I271I|CACNA1C_ENST00000399606.1_Silent_p.I271I|CACNA1C_ENST00000347598.4_Silent_p.I271I|CACNA1C_ENST00000399634.1_Silent_p.I271I|CACNA1C_ENST00000399649.1_Silent_p.I271I|CACNA1C_ENST00000399638.1_Silent_p.I271I|CACNA1C_ENST00000327702.7_Silent_p.I271I|CACNA1C_ENST00000399595.1_Silent_p.I271I|CACNA1C_ENST00000344100.3_Silent_p.I271I|CACNA1C_ENST00000399641.1_Silent_p.I271I|CACNA1C_ENST00000399597.1_Silent_p.I271I|CACNA1C_ENST00000399629.1_Silent_p.I271I|CACNA1C_ENST00000335762.5_Silent_p.I271I|CACNA1C_ENST00000402845.3_Silent_p.I271I|CACNA1C_ENST00000399601.1_Silent_p.I271I|CACNA1C_ENST00000399644.1_Silent_p.I271I|CACNA1C_ENST00000480911.1_Silent_p.I271I|CACNA1C_ENST00000399621.1_Silent_p.I271I|CACNA1C_ENST00000399617.1_Silent_p.I271I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	271					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCTGCACATCGCCCTGCTTG	0.562000													10	35					0.00829132	0.00843526	1	1	0
POLR2M	81488	broad.mit.edu	37	15	58000985	58000985	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:58000985G>T	ENST00000299638.3	+	2	401	c.187G>T	c.(187-189)Gca>Tca	p.A63S	POLR2M_ENST00000464308.1_3'UTR|GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000380557.4_Intron|POLR2M_ENST00000380563.2_Missense_Mutation_p.A63S|GCOM1_ENST00000484300.1_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.A460S|GCOM1_ENST00000380568.3_Intron	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M																		AGCTGCCATTGCAGAATGTGA	0.358000													18	36					7.41877e-09	8.02177e-09	1	1	0
TMEM139	135932	broad.mit.edu	37	7	142983744	142983744	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:142983744G>T	ENST00000359333.3	+	3	986	c.473G>T	c.(472-474)aGa>aTa	p.R158I	AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000410004.1_Missense_Mutation_p.R158I|TMEM139_ENST00000409244.1_Missense_Mutation_p.R158I|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409541.1_Missense_Mutation_p.R158I|TMEM139_ENST00000409102.1_Missense_Mutation_p.R158I|TMEM139_ENST00000471161.1_3'UTR	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	158						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					AGCCCTGGAAGAGCTCCAATC	0.602000													9	37					0.000442599	0.000456625	1	1	0
ITFG2	55846	broad.mit.edu	37	12	2921951	2921951	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:2921951C>T	ENST00000228799.2	+	1	164	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	RP4-816N1.6_ENST00000547794.1_RNA|ITFG2_ENST00000419778.2_5'UTR|ITFG2_ENST00000542548.1_5'UTR|RP4-816N1.6_ENST00000547834.1_RNA	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	9										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTACGTGCAGCGCGTGGCGCT	0.617000													19	87					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88932164	88932164	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:88932164C>T	ENST00000277141.6	-	18	3535	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E1082K|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E846K|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.E20K|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.E1082K			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1082					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTTGCTAATTCTTCAATAGTT	0.348000													13	53					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15325723	15325723	+	RNA	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr18:15325723G>A	ENST00000455308.2	-	0	319					NR_027417.1																						CTCTGGCATTGCAGAGCCTGT	0.343000													4	0					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239519	21239519	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:21239519G>A	ENST00000380222.2	-	1	459	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	139					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGCCAGGATGGAGTCCTCATT	0.448000													58	239					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138656923	138656923	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:138656923G>A	ENST00000298480.5	+	12	1156	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	KCNT1_ENST00000263604.3_Missense_Mutation_p.G342D|KCNT1_ENST00000486577.2_Missense_Mutation_p.G322D|KCNT1_ENST00000490355.2_Missense_Mutation_p.G342D|KCNT1_ENST00000488444.2_Missense_Mutation_p.G342D|KCNT1_ENST00000491806.2_Missense_Mutation_p.G328D|KCNT1_ENST00000487664.1_Missense_Mutation_p.G316D|KCNT1_ENST00000371757.2_Missense_Mutation_p.G361D			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	361						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AAGTCAGGGGGCAACTACAGC	0.607000													3	28					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69339794	69339794	+	Silent	SNP	C	C	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:69339794C>A	ENST00000260364.5	+	13	1981	c.1680C>A	c.(1678-1680)atC>atA	p.I560I	NOX5_ENST00000530406.2_Silent_p.I550I|NOX5_ENST00000448182.3_Silent_p.I532I|NOX5_ENST00000388866.3_Silent_p.I578I|NOX5_ENST00000455873.3_Silent_p.I543I|NOX5_ENST00000525163.1_3'UTR			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	578	C-terminal catalytic region.|FAD-binding FR-type.				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						CCCGCAGGATCTTTGCCTCTG	0.582000													7	43					0.000274275	0.000283967	1	1	0
FBXO7	25793	broad.mit.edu	37	22	32879976	32879976	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr22:32879976C>T	ENST00000266087.7	+	3	837	c.510C>T	c.(508-510)ctC>ctT	p.L170L	FBXO7_ENST00000382058.3_Silent_p.L91L|FBXO7_ENST00000397426.1_Silent_p.L56L	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	170					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACCCATGCTCTGTAGTGAAT	0.438000													30	58					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49000753	49000753	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:49000753G>A	ENST00000600059.1	-	11	3800	c.3573C>T	c.(3571-3573)ctC>ctT	p.L1191L	LMTK3_ENST00000270238.3_Silent_p.L1220L					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGTCTCCGCTGAGTGCCGTGT	0.716000													5	33					0	0	1	0	0
STRBP	55342	broad.mit.edu	37	9	125923295	125923295	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:125923295C>T	ENST00000447404.2	-	6	892	c.588G>A	c.(586-588)ctG>ctA	p.L196L	STRBP_ENST00000360998.3_Silent_p.L182L|STRBP_ENST00000348403.5_Silent_p.L196L			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	196	DZF.			L -> P (in Ref. 3; BAA92120).	multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CCAAGGCGTTCAGGCATTTCT	0.393000													11	21					0	0	1	0	0
STOM	2040	broad.mit.edu	37	9	124103553	124103553	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:124103553G>C	ENST00000286713.2	-	7	811	c.794C>G	c.(793-795)tCa>tGa	p.S265*	STOM_ENST00000538954.1_Nonsense_Mutation_p.S214*|STOM_ENST00000347359.2_Nonsense_Mutation_p.S100*	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	265	Required for homooligomerization.				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		GACAATTGTTGAGTTTTTCTC	0.502000													26	101					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233655858	233655858	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:233655858G>C	ENST00000373566.3	+	12	1334	c.1137G>C	c.(1135-1137)gaG>gaC	p.E379D	GIGYF2_ENST00000373563.4_Missense_Mutation_p.E357D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E357D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E351D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E188D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E379D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E379D			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	357					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAGAAGGAGAGAAAACAGATA	0.443000													5	18					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50290507	50290507	+	Missense_Mutation	SNP	G	G	A	rs150943193		TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:50290507G>A	ENST00000313601.6	+	4	739	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	GNAI2_ENST00000422163.1_Missense_Mutation_p.V103M|GNAI2_ENST00000451956.1_Missense_Mutation_p.V82M|GNAI2_ENST00000266027.5_Missense_Mutation_p.V103M|GNAI2_ENST00000440628.1_Missense_Mutation_p.V67M|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Missense_Mutation_p.V38M	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	119					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GGAGCAAGGCGTGCTCCCTGA	0.627000													68	92					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169952465	169952465	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:169952465C>T	ENST00000367765.1	-	13	2833	c.1332G>A	c.(1330-1332)atG>atA	p.M444I	KIFAP3_ENST00000367767.1_Missense_Mutation_p.M440I|KIFAP3_ENST00000361580.2_Missense_Mutation_p.M484I|KIFAP3_ENST00000538366.1_Missense_Mutation_p.M406I|KIFAP3_ENST00000540905.1_Missense_Mutation_p.M186I	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	484					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAATCATTTTCATCAGCAATG	0.348000													11	62					0	0	1	0	0
AIMP2	7965	broad.mit.edu	37	7	6049088	6049088	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:6049088G>T	ENST00000223029.3	+	1	213	c.94G>T	c.(94-96)Ggc>Tgc	p.G32C	AIMP2_ENST00000395236.2_Missense_Mutation_p.G32C|AIMP2_ENST00000400479.2_Intron	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	32					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CAACGTGCACGGCAGGAGCTA	0.731000													5	43					0.014758	0.0148594	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35646888	35646888	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr5:35646888G>T	ENST00000440995.2	+	5	705	c.705G>T	c.(703-705)atG>atT	p.M235I	SPEF2_ENST00000509059.1_Missense_Mutation_p.M235I|SPEF2_ENST00000356031.3_Missense_Mutation_p.M235I|SPEF2_ENST00000282469.6_Missense_Mutation_p.M235I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	235					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAATGATGAAAAAGAAAA	0.343000													16	99					1.3612e-06	1.43983e-06	1	1	0
SPEG	10290	broad.mit.edu	37	2	220342823	220342823	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:220342823G>A	ENST00000312358.7	+	22	5155	c.5023G>A	c.(5023-5025)Gag>Aag	p.E1675K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1675	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATTGTCACCGAGCTGTATCC	0.572000													8	45					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71726341	71726341	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr11:71726341G>A	ENST00000393695.3	-	15	2539	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	NUMA1_ENST00000358965.6_Silent_p.I736I|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	736					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGCTCAGAGATACAACGCT	0.602000			T	RARA	APL								44	45					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48839828	48839828	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:48839828C>T	ENST00000314191.2	-	21	2401	c.2345G>A	c.(2344-2346)aGa>aAa	p.R782K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R782K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	782					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CATTACATGTCTGTCAATATA	0.423000								Non-homologous end-joining					4	20					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147451755	147451755	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr5:147451755G>C	ENST00000359874.3	+	4	327	c.254G>C	c.(253-255)aGa>aCa	p.R85T	SPINK5_ENST00000398454.1_Missense_Mutation_p.R85T|SPINK5_ENST00000256084.7_Missense_Mutation_p.R85T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	85					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTAGCAAGAGCTCCCAAG	0.398000													3	58					0	0	1	0	0
BZW1	9689	broad.mit.edu	37	2	201677996	201677996	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:201677996G>A	ENST00000409600.1	+	2	511	c.56G>A	c.(55-57)aGa>aAa	p.R19K	BZW1_ENST00000409226.1_Missense_Mutation_p.R23K|BZW1_ENST00000452790.2_Missense_Mutation_p.R51K	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTTAAAACTAGAAAAAGAGGT	0.368000													6	18					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197503839	197503839	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:197503839C>G	ENST00000241502.4	+	7	920	c.698C>G	c.(697-699)tCt>tGt	p.S233C	FYTTD1_ENST00000424384.2_Missense_Mutation_p.S166C|FYTTD1_ENST00000415708.2_Missense_Mutation_p.S207C|FYTTD1_ENST00000428395.2_Missense_Mutation_p.S142C	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1						mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		TTGACTGTATCTATTGACAAT	0.323000													5	49					0	0	1	0	0
TRAV27	28655	broad.mit.edu	37	14	22616519	22616519	+	RNA	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr14:22616519G>C	ENST00000390457.2	+	0	357																											GGTGATGCAAGAAAGGACAGT	0.547000													12	28					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148745693	148745693	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr5:148745693C>T	ENST00000514349.1	+	3	968	c.389C>T	c.(388-390)tCa>tTa	p.S130L	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.S220L			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	220					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGGCCAGTCAGCAGCGATG	0.627000													10	29					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57348829	57348829	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:57348829T>A	ENST00000398138.3	-	2	1289	c.433A>T	c.(433-435)Act>Tct	p.T145S	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	145					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.T145S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGGCTCAGAGTCACATCAATC	0.567000													19	20					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005808	74005808	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:74005808C>T	ENST00000301607.3	-	22	3731	c.3478G>A	c.(3478-3480)Gag>Aag	p.E1160K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1182K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1160	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCTCCTCCTCGAGGAGGCTC	0.622000													6	43					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114510423	114510423	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:114510423C>T	ENST00000394779.3	-	5	854	c.610G>A	c.(610-612)Gag>Aag	p.E204K	C9orf84_ENST00000374283.5_Missense_Mutation_p.E307K|C9orf84_ENST00000318737.4_Missense_Mutation_p.E243K|C9orf84_ENST00000394777.4_Missense_Mutation_p.E204K|C9orf84_ENST00000374287.3_Missense_Mutation_p.E243K	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	243										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTCAAAATCTCTGTGGAGCTG	0.353000													11	50					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155234520	155234520	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:155234520C>G	ENST00000368361.4	-	9	1294	c.979G>C	c.(979-981)Gac>Cac	p.D327H	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.D325H|CLK2_ENST00000536801.1_Missense_Mutation_p.D327H|CLK2_ENST00000361168.5_Missense_Mutation_p.D326H			P49760	CLK2_HUMAN	CDC-like kinase 2	327	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGCCAAAGTCTACCACCCGC	0.547000								Other conserved DNA damage response genes					6	45					0	0	1	0	0
CXCL9	4283	broad.mit.edu	37	4	76926029	76926029	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr4:76926029C>G	ENST00000264888.5	-	3	247	c.209G>C	c.(208-210)gGa>gCa	p.G70A	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	70					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTTTGAACTCCATTCTTCAG	0.328000													9	34					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16811345	16811345	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr11:16811345C>T	ENST00000355661.3	-	22	3143	c.3133G>A	c.(3133-3135)Gaa>Aaa	p.E1045K	PLEKHA7_ENST00000532079.1_Silent_p.P51P|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E1045K|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E1046K			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1045					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTGCTGCTTTCGGCATTGAGA	0.597000													4	28					0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176765523	176765523	+	Silent	SNP	G	G	A	rs143337574	byFrequency	TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr5:176765523G>A	ENST00000303127.7	-	3	603	c.399C>T	c.(397-399)atC>atT	p.I133I	LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Silent_p.I133I	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	133	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACAAGGCGATGCCGTCTC	0.637000													71	36					0	0	1	0	0
KLHL42	57542	broad.mit.edu	37	12	27933738	27933738	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:27933738G>A	ENST00000381271.2	+	1	786	c.475G>A	c.(475-477)Gag>Aag	p.E159K	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1			kelch-like family member 42																		CCACTTCCACGAGGTGCTGTG	0.652000													26	177					0	0	1	0	0
ABI2	10152	broad.mit.edu	37	2	204260417	204260417	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:204260417G>A	ENST00000295851.5	+	7	1060	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	ABI2_ENST00000261016.6_Missense_Mutation_p.R204Q|ABI2_ENST00000422511.2_Missense_Mutation_p.R255Q|ABI2_ENST00000261018.7_Missense_Mutation_p.R41Q|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.R249Q|ABI2_ENST00000261017.5_Missense_Mutation_p.R249Q|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Missense_Mutation_p.R200Q	NM_001282925.1|NM_001282926.1	NP_001269854.1|NP_001269855.1	Q9NYB9	ABI2_HUMAN	abl-interactor 2		Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCAAGTAGTCGGAGCAGCAGT	0.468000													43	53					0	0	1	0	0
STX1A	6804	broad.mit.edu	37	7	73118097	73118097	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:73118097G>A	ENST00000222812.3	-	7	554	c.528C>T	c.(526-528)atC>atT	p.I176I	WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395154.3_Silent_p.I176I|STX1A_ENST00000395156.3_Silent_p.I176I|STX1A_ENST00000395155.3_Silent_p.I176I	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	176					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				CAGAGGCAAAGATGGCGGGGT	0.617000													11	67					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112600324	112600324	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:112600324G>A	ENST00000550722.1	-	76	13081	c.12686C>T	c.(12685-12687)tCc>tTc	p.S4229F	HECTD4_ENST00000377560.5_Missense_Mutation_p.S4203F|HECTD4_ENST00000430131.2_Missense_Mutation_p.S3953F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGAGTCTGGGGAACCTACAAG	0.567000													14	20					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2406181	2406181	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:2406181C>G	ENST00000360876.4	+	8	1367	c.1311C>G	c.(1309-1311)ttC>ttG	p.F437L	EIF3B_ENST00000397011.2_Missense_Mutation_p.F437L	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	437					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATGGCAAATTCTTTGCCAGAA	0.483000													14	71					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2329098	2329098	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr16:2329098C>G	ENST00000301732.5	-	29	5093	c.4393G>C	c.(4393-4395)Gat>Cat	p.D1465H	ABCA3_ENST00000382381.3_Missense_Mutation_p.D1407H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1465	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGCAAGGCATCAAACTGCGGG	0.667000													11	20					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56482537	56482537	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:56482537G>A	ENST00000267101.3	+	9	1434	c.994G>A	c.(994-996)Gag>Aag	p.E332K	ERBB3_ENST00000415288.2_Missense_Mutation_p.E273K|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	332					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E332K(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCAGCCTGTGAGGGAACAGG	0.522000													15	68					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21481258	21481258	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr18:21481258G>C	ENST00000313654.9	+	48	6413	c.6172G>C	c.(6172-6174)Gaa>Caa	p.E2058Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.E2002Q|LAMA3_ENST00000269217.6_Missense_Mutation_p.E449Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.E393Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2058	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.E2058*(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGAACCAAGAAAACGAGAG	0.463000													9	26					0	0	1	0	0
BUB3	9184	broad.mit.edu	37	10	124915210	124915210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr10:124915210C>T	ENST00000368865.4	+	3	441	c.232C>T	c.(232-234)Caa>Taa	p.Q78*	BUB3_ENST00000368858.5_Nonsense_Mutation_p.Q78*|BUB3_ENST00000368859.2_Nonsense_Mutation_p.Q78*|BUB3_ENST00000538238.1_5'UTR	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ACTAGATCATCAATTGAAAAT	0.328000													11	47					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102134192	102134192	+	Silent	SNP	G	G	A	rs145542805	by1000genomes	TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr6:102134192G>A	ENST00000369138.1	+	6	1405	c.915G>A	c.(913-915)ccG>ccA	p.P305P	GRIK2_ENST00000358361.3_Silent_p.P305P|GRIK2_ENST00000318991.6_Silent_p.P305P|GRIK2_ENST00000421544.1_Silent_p.P305P|GRIK2_ENST00000369137.3_Silent_p.P305P|GRIK2_ENST00000413795.1_Silent_p.P305P|GRIK2_ENST00000369134.4_Silent_p.P256P	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	305					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGGCACCTCCGAAACCCGATT	0.393000													25	26					0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73406954	73406954	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr14:73406954G>A	ENST00000555042.1	+	4	285	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000358377.2_Missense_Mutation_p.E74K|DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000353777.3_Missense_Mutation_p.E74K|DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000509153.1_Missense_Mutation_p.E74K	NM_001163508.1	NP_001156980.1	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	74						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CTTTGACCCTGAAAAGAAACG	0.498000													23	75					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263666	263666	+	Silent	SNP	C	C	T	rs111388956		TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:263666C>T	ENST00000360127.6	+	2	1048	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	374	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G344G(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACCCCG	0.687000													6	57					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76470818	76470818	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:76470818C>G	ENST00000396423.2	+	7	893	c.769C>G	c.(769-771)Cta>Gta	p.L257V	HNF4G_ENST00000354370.1_Missense_Mutation_p.L220V	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	220					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAATCGTGTTCTAGATGAGCT	0.363000													47	185					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31358301	31358301	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:31358301G>A	ENST00000542188.1	-	6	1132	c.819C>T	c.(817-819)atC>atT	p.I273I	TRPM1_ENST00000256552.6_Silent_p.I256I|TRPM1_ENST00000397795.2_Silent_p.I234I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	234					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCTGCAGGGAGATGTGCTTTT	0.542000													14	74					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77649046	77649046	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:77649046C>T	ENST00000354212.4	-	22	4207	c.3954G>A	c.(3952-3954)gcG>gcA	p.A1318A	MAGI2_ENST00000522391.1_3'UTR|MAGI2_ENST00000419488.1_Silent_p.A1304A	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1318						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCTGCGGACTCGCCGAGCGCT	0.731000													5	23					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43004371	43004371	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:43004371C>T	ENST00000587309.1	-	14	2411	c.2388G>A	c.(2386-2388)aaG>aaA	p.K796K	KIF18B_ENST00000590129.1_Silent_p.K805K|KIF18B_ENST00000438933.2_Silent_p.K796K|KIF18B_ENST00000339151.4_Silent_p.K787K|KIF18B_ENST00000593135.1_Silent_p.K784K	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CAACGCGCTTCTTCTTGCAGG	0.637000													3	18					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr18:6859874C>T	ENST00000419673.2	+	4	444	c.227C>T	c.(226-228)gCg>gTg	p.A76V	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A235V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	58					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433000													4	149					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33700335	33700335	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:33700335G>T	ENST00000253188.4	-	10	1466	c.1320C>A	c.(1318-1320)ttC>ttA	p.F440L		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					AGATGAAGCTGAAGACCAGCA	0.567000													7	49					0.00198382	0.00203237	1	1	0
RSPO2	340419	broad.mit.edu	37	8	108972995	108972995	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:108972995T>G	ENST00000276659.5	-	4	954	c.334A>C	c.(334-336)Aag>Cag	p.K112Q	RSPO2_ENST00000378439.2_Missense_Mutation_p.K49Q|RSPO2_ENST00000517781.1_Missense_Mutation_p.K49Q|RSPO2_ENST00000517939.1_Missense_Mutation_p.K45Q	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	112					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			ACTTTGCACTTGGTACAAAAG	0.343000													16	52					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48369112	48369112	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:48369112C>T	ENST00000380518.3	-	51	4038	c.3874G>A	c.(3874-3876)Gag>Aag	p.E1292K	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.E1223K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1292	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCTTCCACTCAGGGTGGCAG	0.597000													8	24					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232539249	232539249	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:232539249C>T	ENST00000366630.1	-	20	5243	c.4885G>A	c.(4885-4887)Gag>Aag	p.E1629K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E1629K|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.E685K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1629					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGGGCAGCTCTTGGGCCCCT	0.572000													26	14					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75685021	75685021	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:75685021G>C	ENST00000394947.3	-	15	2727	c.2413C>G	c.(2413-2415)Cag>Gag	p.Q805E	SIN3A_ENST00000394949.4_Missense_Mutation_p.Q805E|SIN3A_ENST00000360439.4_Missense_Mutation_p.Q805E	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	805	Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCCTCCTTCTGAATGCCTGTC	0.433000													16	78					0	0	1	0	0
BTG1	694	broad.mit.edu	37	12	92539264	92539264	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:92539264G>A	ENST00000256015.3	-	1	409	c.48C>T	c.(46-48)gcC>gcT	p.A16A		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	16					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				ACACGGCGGCGGCGATCTCGC	0.716000			T	MYC	BCLL								6	32					0	0	1	0	0
ACTRT3	84517	broad.mit.edu	37	3	169485493	169485493	+	Silent	SNP	A	A	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:169485493A>G	ENST00000330368.2	-	2	1220	c.846T>C	c.(844-846)tgT>tgC	p.C282C		NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN	actin-related protein T3	282				C -> R (in Ref. 2; BAB70906).		cytoplasm|cytoskeleton											GGCCTGTATCACATTTCATTA	0.453000													21	55					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831708	58831708	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr14:58831708G>C	ENST00000355431.3	+	20	3274	c.2901G>C	c.(2899-2901)ttG>ttC	p.L967F	ARID4A_ENST00000348476.3_Missense_Mutation_p.L967F|ARID4A_ENST00000431317.2_Missense_Mutation_p.L967F|ARID4A_ENST00000395168.3_Missense_Mutation_p.L967F	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	967					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGATGATTTGGATGAAAAGG	0.428000													20	65					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41551100	41551100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr22:41551100C>T	ENST00000263253.7	+	17	4463	c.3244C>T	c.(3244-3246)Cag>Tag	p.Q1082*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1082	Bromo.				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						TGTGGACCCTCAGCTTTTAGG	0.393000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				39	118					0	0	1	0	0
PYDC1	260434	broad.mit.edu	37	16	31228334	31228334	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr16:31228334C>G	ENST00000302964.3	-	1	346	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	6	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGGATGGCCTCGCGCTTCGTT	0.647000													15	8					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22145071	22145071	+	Missense_Mutation	SNP	C	C	G	rs73225895	by1000genomes	TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:22145071C>G	ENST00000356766.6	+	7	922	c.774C>G	c.(772-774)ttC>ttG	p.F258L	PIWIL2_ENST00000521356.1_Missense_Mutation_p.F258L|PIWIL2_ENST00000454009.2_Missense_Mutation_p.F258L	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	258					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GCATGAGGTTCGGCATGTTGA	0.443000											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	23					0	0	1	0	0
TMEM106C	79022	broad.mit.edu	37	12	48359752	48359752	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:48359752A>T	ENST00000429772.2	+	4	496	c.383A>T	c.(382-384)cAa>cTa	p.Q128L	TMEM106C_ENST00000449758.2_Missense_Mutation_p.Q128L|TMEM106C_ENST00000256686.6_Missense_Mutation_p.Q128L|TMEM106C_ENST00000552561.1_Missense_Mutation_p.Q128L|TMEM106C_ENST00000552546.1_Missense_Mutation_p.Q57L|TMEM106C_ENST00000550552.1_Missense_Mutation_p.Q128L|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	128						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TTTAATAAGCAAGACTCCCTT	0.478000													27	114					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554042	135554042	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:135554042A>G	ENST00000372146.4	+	2	1600	c.1036A>G	c.(1036-1038)Aat>Gat	p.N346D	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	346					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TCTTCCTGTCAATCTCAAAGC	0.413000													20	94					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	48965199	48965199	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:48965199G>C	ENST00000356401.4	+	3	547	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	ARIH2_ENST00000449376.1_Missense_Mutation_p.E70Q|ARIH2_ENST00000490095.1_Intron	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	70	Asp/Glu-rich (acidic).				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CAAGGAATCTGAGGGTGCCCT	0.512000													3	44					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	340277	340277	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:340277G>A	ENST00000432829.2	+	14	1747	c.1431G>A	c.(1429-1431)ttG>ttA	p.L477L	DOCK8_ENST00000469391.1_Silent_p.L477L|DOCK8_ENST00000453981.1_Silent_p.L545L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	545	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AAGAGATTTTGGAATTTCCAA	0.483000													8	52					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169930197	169930197	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:169930197G>C	ENST00000367765.1	-	18	3544	c.2043C>G	c.(2041-2043)ttC>ttG	p.F681L	KIFAP3_ENST00000367767.1_Missense_Mutation_p.F677L|KIFAP3_ENST00000361580.2_Missense_Mutation_p.F721L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.F643L|KIFAP3_ENST00000540905.1_Missense_Mutation_p.F423L	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	721					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGAGTTGTAGAAAAGGTCAG	0.398000													13	77					0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41106207	41106207	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:41106207G>A	ENST00000355341.4	+	10	1777	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	ZFYVE19_ENST00000564258.1_Missense_Mutation_p.E251K|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.E416K|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.E358K|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.E403K	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	426	Cys-rich.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CATCTGCAATGAGGATGCCAC	0.617000													13	54					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501511	136501511	+	Silent	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:136501511C>G	ENST00000393056.2	+	1	30	c.18C>G	c.(16-18)cgC>cgG	p.R6R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	6					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCCTCAGTCGCTGGGCCAGCC	0.657000													5	47					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123694686	123694686	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:123694686C>T	ENST00000606320.1	-	8	1317	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E219K|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E341K|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E219K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	219					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATATCCTTTTCCTCTAGTTTC	0.358000													13	60					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151239503	151239503	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr5:151239503G>C	ENST00000274576.4	-	4	611	c.319C>G	c.(319-321)Cct>Gct	p.P107A	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.P107A|GLRA1_ENST00000545569.1_Missense_Mutation_p.P24A	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	107					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGTCGTCAGGGTATTCATTA	0.532000													26	44					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209293000	209293000	+	Silent	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:209293000C>G	ENST00000272847.2	+	2	363	c.150C>G	c.(148-150)ctC>ctG	p.L50L	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	50						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AATGTGAACTCAACATCACAG	0.428000													6	17					0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35616173	35616173	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:35616173C>T	ENST00000310123.3	-	9	2057	c.1538G>A	c.(1537-1539)aGa>aAa	p.R513K	LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	513						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGGAAGCGTCTGCCGGCCAT	0.632000													17	47					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36909384	36909384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr13:36909384G>T	ENST00000451493.1	-	2	801	c.584C>A	c.(583-585)tCa>tAa	p.S195*	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Nonsense_Mutation_p.S195*|SPG20_ENST00000355182.4_Nonsense_Mutation_p.S195*|SPG20_ENST00000438666.2_Nonsense_Mutation_p.S195*	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	195					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCCAACTGATGAAAACTCCCC	0.453000													20	38					1.96292e-10	2.14603e-10	1	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26221294	26221294	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:26221294C>G	ENST00000380737.3	+	8	1189	c.860C>G	c.(859-861)tCt>tGt	p.S287C	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S297C	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		ATCATCTCCTCTATTTCGGAT	0.363000													14	26					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38948682	38948682	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:38948682G>C	ENST00000306658.7	-	8	1457	c.1392C>G	c.(1390-1392)ttC>ttG	p.F464L		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	464	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ATGACAGCTAGAAAGGAACCC	0.338000													10	73					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153912942	153912942	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:153912942G>A	ENST00000361217.4	-	10	1885	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	489	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTACACAGATGACATCAGCAG	0.567000													9	11					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138189076	138189076	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:138189076G>A	ENST00000343526.4	+	2	621	c.406G>A	c.(406-408)Gag>Aag	p.E136K	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.E136K			O15164	TIF1A_HUMAN	tripartite motif containing 24	136					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGAATGTGCAGAGAGACACAT	0.363000													14	119					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49424702	49424702	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:49424702C>T	ENST00000301067.7	-	40	13644	c.13645G>A	c.(13645-13647)Gag>Aag	p.E4549K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCAAGGCCTCGCTGGCCCTG	0.627000													6	24					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942864	6942864	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr11:6942864C>T	ENST00000317834.3	+	1	660	c.632C>T	c.(631-633)aCa>aTa	p.T211I		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACTTACAGCACAGAAATGGCC	0.448000													7	38					0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6330312	6330312	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:6330312C>T	ENST00000381129.3	-	4	611	c.531G>A	c.(529-531)gcG>gcA	p.A177A	AIPL1_ENST00000576307.1_Silent_p.A117A|AIPL1_ENST00000576776.1_Silent_p.A177A|AIPL1_ENST00000570466.1_Silent_p.A155A|AIPL1_ENST00000575265.1_Silent_p.A177A|AIPL1_ENST00000571740.1_Silent_p.A169A|AIPL1_ENST00000250087.5_Silent_p.A114A|AIPL1_ENST00000574506.1_Silent_p.A165A	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	177					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GGACGGGCACCGCCTTCATCT	0.597000													24	110					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188320	37188320	+	RNA	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:37188320C>G	ENST00000425901.2	+	0	2162					NR_033753.2																						GACCTCAACTCAGTCTCCAGA	0.498000													15	75					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													4	43					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49090614	49090614	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:49090614G>T	ENST00000323090.4	+	2	673	c.298G>T	c.(298-300)Gac>Tac	p.D100Y	SULT2B1_ENST00000201586.2_Missense_Mutation_p.D115Y	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	115					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CAGCCTCCCGGACCAGTACAG	0.607000													12	69					7.93312e-07	8.42175e-07	1	1	0
MBNL2	10150	broad.mit.edu	37	13	97928586	97928586	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr13:97928586G>C	ENST00000345429.6	+	2	878	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	MBNL2_ENST00000343600.4_Missense_Mutation_p.E33Q|MBNL2_ENST00000376673.3_Missense_Mutation_p.E33Q|MBNL2_ENST00000397601.1_Missense_Mutation_p.E33Q|MBNL2_ENST00000445661.2_Missense_Mutation_p.E33Q	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	33					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CTCTGATGAAGAATGCAAATT	0.428000													26	210					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641550	156641550	+	Silent	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:156641550G>C	ENST00000368223.3	-	4	2562	c.2430C>G	c.(2428-2430)ctC>ctG	p.L810L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	810	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCTTCTTTGAGTGACTTTA	0.423000													55	53					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189957122	189957122	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:189957122C>A	ENST00000374866.3	-	7	755	c.481G>T	c.(481-483)Gat>Tat	p.D161Y		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	161					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTTCTCCATCAATTCCCTGA	0.522000													4	3					0.00909568	0.00918977	1	1	0
NDUFA9	4704	broad.mit.edu	37	12	4768275	4768275	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:4768275G>A	ENST00000266544.5	+	5	504	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	162					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	AGCTGGAGTTGAAAAATTCAT	0.338000													11	120					0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48789377	48789377	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:48789377G>A	ENST00000595607.1	+	6	990	c.496G>A	c.(496-498)Gat>Aat	p.D166N	ZNF114_ENST00000600687.1_Missense_Mutation_p.D166N|ZNF114_ENST00000597695.1_Missense_Mutation_p.D132N|ZNF114_ENST00000315849.1_Missense_Mutation_p.D166N			Q8NC26	ZN114_HUMAN	zinc finger protein 114	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TGTCTTAAACGATAGTCAAAA	0.423000													6	77					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76908131	76908131	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:76908131G>A	ENST00000285871.4	+	12	1630	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	CCDC146_ENST00000431197.1_Silent_p.K215K|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	501	Poly-Lys.									breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGATACACAAGAAGAAAAAAT	0.299000													5	40					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31358323	31358323	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:31358323C>T	ENST00000542188.1	-	6	1110	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	TRPM1_ENST00000256552.6_Missense_Mutation_p.R249Q|TRPM1_ENST00000397795.2_Missense_Mutation_p.R227Q	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	227					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAGCAGCCTTCGCAGCTTCAC	0.547000													14	60					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120432220	120432220	+	Silent	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr4:120432220C>G	ENST00000354960.3	-	15	2389	c.2070G>C	c.(2068-2070)ctG>ctC	p.L690L	PDE5A_ENST00000264805.5_Silent_p.L648L|PDE5A_ENST00000394439.1_Silent_p.L638L|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	690	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TAAGAATCATCAGGCACTGGT	0.323000													14	62					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45716518	45716518	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:45716518C>T	ENST00000413988.1	-	10	1079	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.E347K	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	347										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCTCCCTCCTCAGAGAGTTCC	0.672000													6	33					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231155263	231155263	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:231155263G>C	ENST00000392045.3	+	19	1923	c.1809G>C	c.(1807-1809)aaG>aaC	p.K603N	SP140_ENST00000420434.3_Missense_Mutation_p.K576N|SP140_ENST00000486687.2_Missense_Mutation_p.K527N|SP140_ENST00000350136.5_Missense_Mutation_p.K472N|SP140_ENST00000417495.3_Missense_Mutation_p.K489N|SP140_ENST00000343805.6_Missense_Mutation_p.K543N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	603	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTTTACATAAGAAGAAATTGC	0.408000													12	39					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138189118	138189118	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:138189118G>A	ENST00000343526.4	+	2	663	c.448G>A	c.(448-450)Gag>Aag	p.E150K	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.E150K			O15164	TIF1A_HUMAN	tripartite motif containing 24	150					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGACACTACTGAGGTTCCCAG	0.363000													15	94					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476925	17476925	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:17476925A>G	ENST00000252590.4	-	2	510	c.449T>C	c.(448-450)aTg>aCg	p.M150T		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	150						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTCTTGTTCATGTCCTTGAA	0.557000													41	61					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237870477	237870477	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:237870477C>T	ENST00000366574.2	+	68	10126	c.9809C>T	c.(9808-9810)tCa>tTa	p.S3270L	RYR2_ENST00000360064.6_Missense_Mutation_p.S3268L|RYR2_ENST00000542537.1_Missense_Mutation_p.S3254L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3270					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCCTGAACTCAGAGCACATG	0.483000													4	25					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240492419	240492419	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:240492419G>T	ENST00000319653.9	+	9	4489	c.4259G>T	c.(4258-4260)cGa>cTa	p.R1420L	FMN2_ENST00000545751.1_Missense_Mutation_p.R16L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1420	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGCATGGCCGATCTTCCAAA	0.443000													39	34					2.95478e-19	3.29182e-19	1	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62604680	62604680	+	Missense_Mutation	SNP	G	G	A	rs142287079		TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr6:62604680G>A	ENST00000281156.4	-	6	948	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	224	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.R224W(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTGCTTCCCCGAGGGGTGAGA	0.597000													6	17					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99139897	99139897	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:99139897G>A	ENST00000401707.2	+	3	298	c.217G>A	c.(217-219)Gag>Aag	p.E73K	POP1_ENST00000349693.3_Missense_Mutation_p.E73K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	73					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGAAGTGAATGAGCAGTCTTC	0.483000													14	78					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17596589	17596589	+	Silent	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr20:17596589G>C	ENST00000377813.1	-	22	4236	c.3933C>G	c.(3931-3933)ctC>ctG	p.L1311L	RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000360807.4_Silent_p.L878L|RRBP1_ENST00000377807.2_Silent_p.L878L|RRBP1_ENST00000455029.2_Silent_p.L652L|RRBP1_ENST00000246043.4_Silent_p.L1311L			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1311					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ACTCGGCCGTGAGCTTCTGCC	0.637000													5	35					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43406504	43406504	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr6:43406504G>C	ENST00000244533.3	+	6	2373	c.2014G>C	c.(2014-2016)Gaa>Caa	p.E672Q	ABCC10_ENST00000372530.4_Missense_Mutation_p.E700Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	700	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGAGGTGCTAGAAGCCTGCGC	0.547000													16	54					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64698620	64698620	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:64698620C>G	ENST00000261884.3	+	6	849	c.789C>G	c.(787-789)atC>atG	p.I263M	TRIP4_ENST00000559565.1_Intron	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	263					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGAAGGCTATCAAGCATAAAG	0.393000													6	30					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75977188	75977188	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:75977188C>T	ENST00000308508.5	-	5	4430	c.4338G>A	c.(4336-4338)ctG>ctA	p.L1446L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1446	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CATTAGCCATCAGGACAAAAC	0.587000													10	29					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103644043	103644043	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr4:103644043G>A	ENST00000226578.4	-	4	633	c.534C>T	c.(532-534)gtC>gtT	p.V178V	MANBA_ENST00000505239.1_Intron	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	178					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GAACAAAGTTGACATGGCATT	0.502000													17	49					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15666407	15666407	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:15666407G>C	ENST00000262041.5	-	2	1063	c.654C>G	c.(652-654)taC>taG	p.Y218*		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	218					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CTGCTATCTCGTATCGCCTCA	0.418000													28	65					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21962318	21962318	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr10:21962318C>G	ENST00000377072.3	+	11	1439	c.1091C>G	c.(1090-1092)tCt>tGt	p.S364C	MLLT10_ENST00000446906.2_Missense_Mutation_p.S364C|MLLT10_ENST00000377059.3_Missense_Mutation_p.S364C|MLLT10_ENST00000307729.7_Missense_Mutation_p.S364C	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	364	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAGTCATCTTCTGGAAGTTCA	0.428000			T	"""MLL, PICALM, CDK6"""	AL								26	138					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202260139	202260139	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:202260139C>T	ENST00000332624.3	-	8	1226	c.798G>A	c.(796-798)atG>atA	p.M266I	TRAK2_ENST00000430254.1_Missense_Mutation_p.M266I	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	266						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ATTCTTCAGTCATTCTGGACA	0.368000													15	86					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153912912	153912912	+	Silent	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:153912912G>C	ENST00000361217.4	-	10	1915	c.1497C>G	c.(1495-1497)ctC>ctG	p.L499L		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	499										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTACTGGAAGAGCGTGTTGG	0.552000													8	7					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294493	124294493	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr11:124294493G>A	ENST00000356130.3	-	1	296	c.275C>T	c.(274-276)tCt>tTt	p.S92F		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCCCACATAAGAGATGATACT	0.378000													15	37					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927752	55927752	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr11:55927752C>T	ENST00000313447.1	-	1	41	c.42G>A	c.(40-42)ctG>ctA	p.L14L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGAGTTCCATCAGAATGAATT	0.438000													9	59					0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132869818	132869818	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:132869818G>A	ENST00000372406.1	+	14	1813	c.1306G>A	c.(1306-1308)Ggt>Agt	p.G436S	GPR107_ENST00000372410.3_Splice_Site_p.G436S|GPR107_ENST00000347136.6_Splice_Site_p.A436T	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	436						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AGATGGAAAAGGCAAGTTCTC	0.453000											OREG0019542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	44					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2685564	2685564	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr6:2685564C>T	ENST00000274643.7	-	6	853	c.511G>A	c.(511-513)Gag>Aag	p.E171K	MYLK4_ENST00000268446.5_Missense_Mutation_p.E171K	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	171	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TTCTTAGACTCGAAGGCATCG	0.562000													33	137					0	0	1	0	0
VDAC2	7417	broad.mit.edu	37	10	76978944	76978944	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr10:76978944C>T	ENST00000535553.1	+	6	513	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L	VDAC2_ENST00000332211.6_Silent_p.L92L|VDAC2_ENST00000543351.1_Silent_p.L92L|VDAC2_ENST00000313132.4_Silent_p.L107L|VDAC2_ENST00000472137.1_3'UTR			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	92						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TGATAACACTCTGGGAACAGA	0.313000													14	57					0	0	1	0	0
NPB	256933	broad.mit.edu	37	17	79860607	79860607	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:79860607G>A	ENST00000573081.1	+	1	1987	c.454G>A	c.(454-456)Gac>Aac	p.D152N	PCYT2_ENST00000538936.2_3'UTR|NPB_ENST00000333383.7_Missense_Mutation_p.D121N			Q8NG41	NPB_HUMAN	neuropeptide B	121					neuropeptide signaling pathway	extracellular region						all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCGCGCAGCCGACTGCCTCGC	0.751000													8	25					0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129247681	129247681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:129247681G>A	ENST00000296271.3	+	1	199	c.105G>A	c.(103-105)tgG>tgA	p.W35*		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	35					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CTGAGCCATGGCAGTTCTCCA	0.577000													34	44					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35506419	35506419	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr20:35506419G>A	ENST00000217320.3	+	2	195	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	TLDC2_ENST00000602922.1_Missense_Mutation_p.E51K	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		CCAGCTGACAGAAGCCAGCCA	0.592000													24	22					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36662799	36662799	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:36662799T>G	ENST00000399881.3	+	4	501	c.464T>G	c.(463-465)tTg>tGg	p.L155W		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	155						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TATTTTGGATTGAGGGTAAGT	0.393000													8	16					0	0	1	0	0
STRBP	55342	broad.mit.edu	37	9	125923304	125923304	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:125923304C>T	ENST00000447404.2	-	6	883	c.579G>A	c.(577-579)caG>caA	p.Q193Q	STRBP_ENST00000360998.3_Silent_p.Q179Q|STRBP_ENST00000348403.5_Silent_p.Q193Q			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	193	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TCAGGCATTTCTGCCTGTCCA	0.383000													11	22					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34526635	34526635	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr20:34526635G>C	ENST00000374012.3	+	16	2446	c.2317G>C	c.(2317-2319)Gat>Cat	p.D773H	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	773					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGAGCATCCTGATCTGCCGCT	0.532000													63	49					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118548094	118548094	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:118548094C>T	ENST00000336338.5	-	32	4784	c.4719G>A	c.(4717-4719)atG>atA	p.M1573I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1573						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAGTATGCCTCATGATGTACC	0.463000													12	52					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79579173	79579173	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr10:79579173G>A	ENST00000372391.2	-	17	3582	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.R853W	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1193					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATGGGGTTCCGCAGGATGGAG	0.627000													3	29					0	0	1	0	0
SRR	63826	broad.mit.edu	37	17	2224606	2224606	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:2224606G>C	ENST00000344595.5	+	5	724	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	136					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	p.E136*(1)		NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCAGTCCAGAGAAAATGTTGC	0.393000													38	45					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61655588	61655588	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:61655588C>A	ENST00000423902.2	+	2	2076	c.1597C>A	c.(1597-1599)Cat>Aat	p.H533N	CHD7_ENST00000525508.1_Missense_Mutation_p.H533N|CHD7_ENST00000524602.1_Missense_Mutation_p.H533N	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	533	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCACACCCTCATCACCAGCC	0.582000													6	21					5.9392e-07	6.35104e-07	1	1	0
KIF1A	547	broad.mit.edu	37	2	241700175	241700175	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:241700175C>T	ENST00000498729.2	-	25	2597	c.2351G>A	c.(2350-2352)cGa>cAa	p.R784Q	KIF1A_ENST00000320389.7_Missense_Mutation_p.R775Q	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	775					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCGCGTCTCTCGGTCTTTGGC	0.642000													8	12					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56712106	56712106	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:56712106G>A	ENST00000425394.2	-	25	3865	c.3489C>T	c.(3487-3489)ttC>ttT	p.F1163F	PAN2_ENST00000257931.5_Silent_p.F1162F|PAN2_ENST00000440411.3_Silent_p.F1159F|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000548043.1_Silent_p.F1163F	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1163					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCACCTTGTGGAAAGACTCAG	0.517000													23	82					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126144641	126144641	+	Silent	SNP	G	G	A	rs149511328		TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:126144641G>A	ENST00000373624.2	-	22	2301	c.2100C>T	c.(2098-2100)ccC>ccT	p.P700P	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.P711P|DENND1A_ENST00000542603.1_Silent_p.P485P	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	700	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTTGGGGCCGGGGGATGGTGA	0.697000													5	18					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42647461	42647461	+	Splice_Site	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr6:42647461G>C	ENST00000372899.1	+	42	4867		c.e42-1		UBR2_ENST00000372901.1_Splice_Site|UBR2_ENST00000372883.3_Splice_Site	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2						cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTCATTTGCAGTTCCTGGAAC	0.338000													7	36					0	0	1	0	0
MEIS3	56917	broad.mit.edu	37	19	47920177	47920177	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:47920177C>T	ENST00000331559.5	-	3	670	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	MEIS3_ENST00000561096.1_Missense_Mutation_p.E165K|MEIS3_ENST00000441740.2_Missense_Mutation_p.E77K|MEIS3_ENST00000559524.1_Missense_Mutation_p.E77K|MEIS3_ENST00000561293.1_Missense_Mutation_p.E77K|MEIS3_ENST00000558555.1_Missense_Mutation_p.E77K	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	77						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTAGCCAGTTCACATTTCTCA	0.627000													4	14					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150255782	150255782	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:150255782G>C	ENST00000290363.5	+	1	554	c.105G>C	c.(103-105)gaG>gaC	p.E35D	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Missense_Mutation_p.E35D|C1orf51_ENST00000369094.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	35										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGATAGTGAGAGGGAGGACA	0.582000													18	91					0	0	1	0	0
REP15	387849	broad.mit.edu	37	12	27849660	27849660	+	Silent	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:27849660G>C	ENST00000310791.2	+	1	233	c.165G>C	c.(163-165)ctG>ctC	p.L55L	RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	55						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					CAAATACTCTGAATGAGATCT	0.453000													19	145					0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20907528	20907528	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:20907528G>A	ENST00000261497.4	-	12	1725	c.1522C>T	c.(1522-1524)Ctg>Ttg	p.L508L	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.L496L	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	508					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TCGCTGTCCAGGACGTCCTTG	0.587000													13	29					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46777161	46777161	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr6:46777161G>A	ENST00000230588.4	+	6	276	c.267G>A	c.(265-267)ctG>ctA	p.L89L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	89	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTGCAGGGCTGAATGCTAAAG	0.368000													13	95					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160261551	160261551	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:160261551C>G	ENST00000392783.2	-	15	3247	c.2752G>C	c.(2752-2754)Gaa>Caa	p.E918Q	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E884Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E818Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E882Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	918	Lys-rich.			E -> K (in Ref. 6; AAH12576).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTTTGGCTTCTTTAGCAACC	0.353000													11	79					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44294184	44294184	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:44294184C>G	ENST00000395749.2	-	5	374	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	CAMK2B_ENST00000440254.2_Missense_Mutation_p.E100Q|CAMK2B_ENST00000358707.3_Missense_Mutation_p.E100Q|CAMK2B_ENST00000457475.1_Missense_Mutation_p.E100Q|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Missense_Mutation_p.E100Q|CAMK2B_ENST00000350811.3_Missense_Mutation_p.E100Q|CAMK2B_ENST00000346990.4_Missense_Mutation_p.E100Q|CAMK2B_ENST00000353625.4_Missense_Mutation_p.E100Q|CAMK2B_ENST00000347193.4_Missense_Mutation_p.E100Q|CAMK2B_ENST00000258682.6_Missense_Mutation_p.E100Q	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	100	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ACAATGTCTTCAAAGAGCTCC	0.557000													18	69					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41579056	41579056	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:41579056C>T	ENST00000402904.2	-	8	982	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	SCMH1_ENST00000361191.5_Missense_Mutation_p.R144Q|SCMH1_ENST00000372596.1_Missense_Mutation_p.R144Q|SCMH1_ENST00000397174.2_Missense_Mutation_p.R185Q|SCMH1_ENST00000337495.5_Missense_Mutation_p.R215Q|SCMH1_ENST00000326197.7_Missense_Mutation_p.R205Q|SCMH1_ENST00000372597.1_Missense_Mutation_p.R158Q|SCMH1_ENST00000361705.3_Missense_Mutation_p.R158Q|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Missense_Mutation_p.R144Q|SCMH1_ENST00000397171.2_Missense_Mutation_p.R144Q	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	205					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AAAGGCCCCTCGCCACCCATC	0.562000													8	46					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158589083	158589083	+	Silent	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:158589083G>C	ENST00000368147.4	-	45	6639	c.6459C>G	c.(6457-6459)gtC>gtG	p.V2153V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAAGTTCTTGACCTGTCTTG	0.473000													44	58					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118610460	118610460	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:118610460C>T	ENST00000392533.3	-	17	2191	c.1701G>A	c.(1699-1701)atG>atA	p.M567I	TAOK3_ENST00000537952.1_Missense_Mutation_p.M107I|TAOK3_ENST00000419821.2_Missense_Mutation_p.M567I	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	567					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTCCTCATTCATTTCCTAAA	0.423000													18	55					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22925343	22925343	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:22925343C>A	ENST00000166244.3	+	13	2263	c.2191C>A	c.(2191-2193)Cag>Aag	p.Q731K		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	731	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCACGACGGGCAGTTCACCAT	0.637000													8	15					0.00621372	0.00634362	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48771142	48771142	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:48771142C>T	ENST00000314191.2	-	49	6453	c.6397G>A	c.(6397-6399)Gga>Aga	p.G2133R	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G2133R	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2134					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATTGGATTTCCCAGTTTGCCA	0.313000								Non-homologous end-joining					5	6					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67291200	67291200	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr14:67291200G>A	ENST00000478722.1	+	4	1331	c.210G>A	c.(208-210)ctG>ctA	p.L70L	GPHN_ENST00000459628.1_Intron|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Silent_p.L70L|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000315266.5_Silent_p.L70L	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	70	MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGGAAACCCTGATAGATTGGT	0.403000			T	MLL	AL								10	19					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747132	94747132	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:94747132C>G	ENST00000399300.2	-	3	1720	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	RBM12B_ENST00000517700.1_Missense_Mutation_p.E503Q|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	503							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCACCTCGCTCACGTGACTGT	0.408000													76	88					0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24795493	24795493	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:24795493G>A	ENST00000003912.3	+	13	1508	c.793G>A	c.(793-795)Gat>Aat	p.D265N	NIPAL3_ENST00000374399.4_Missense_Mutation_p.D347N			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	347						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GAACATGCACGATAAAGGGAT	0.483000													22	105					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154946	5154946	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr12:5154946G>A	ENST00000252321.3	+	1	1862	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	545						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TCAGAGCCAGGGGCCGGGGCT	0.622000													20	21					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31231955	31231955	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr13:31231955G>A	ENST00000255304.4	+	9	2083	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	581					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGGTTTGGTTGACAATATTTT	0.388000													8	58					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553752	140553752	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr5:140553752G>A	ENST00000231137.3	+	1	1510	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		446	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGACGTCAATGACAACGCTCC	0.577000													4	95					0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22008844	22008844	+	Silent	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr18:22008844G>C	ENST00000284202.4	+	3	318	c.177G>C	c.(175-177)ccG>ccC	p.P59P		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	59	RWD.							p.P59P(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TGATGCTGCCGAATGAATACC	0.353000													9	56					0	0	1	0	0
GCH1	2643	broad.mit.edu	37	14	55310786	55310786	+	Silent	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr14:55310786G>A	ENST00000491895.2	-	6	890	c.702C>T	c.(700-702)ttC>ttT	p.F234F	GCH1_ENST00000536224.2_Intron|GCH1_ENST00000395514.1_Silent_p.F234F|GCH1_ENST00000543643.2_Intron|GCH1_ENST00000254299.4_5'UTR	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	234			F -> S (in DYT5).		dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			endometrium(2)|lung(7)|skin(2)	11						GATCCTCCCGGAACACACCCA	0.478000													14	51					0	0	1	0	0
AKT1S1	84335	broad.mit.edu	37	19	50375093	50375093	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:50375093C>T	ENST00000391833.1	-	2	2422	c.433G>A	c.(433-435)Gag>Aag	p.E145K	AKT1S1_ENST00000344175.5_Missense_Mutation_p.E145K|AKT1S1_ENST00000391831.1_Missense_Mutation_p.E145K|AKT1S1_ENST00000391834.2_Missense_Mutation_p.E145K|AKT1S1_ENST00000391835.1_Missense_Mutation_p.E165K|AKT1S1_ENST00000391832.3_Missense_Mutation_p.E145K	NM_001278160.1	NP_001265089.1	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)	145					negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGGTCTGACTCACAGAAGGGG	0.617000													46	65					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369461	20369461	+	RNA	SNP	T	T	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:20369461T>A	ENST00000593655.1	-	0	199																											TATGTAGCCATCCAGGCAGTT	0.423000													18	69					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242271091	242271091	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:242271091C>T	ENST00000536534.2	-	8	1362	c.1121G>A	c.(1120-1122)cGa>cAa	p.R374Q	PLD5_ENST00000427495.1_Missense_Mutation_p.R312Q|PLD5_ENST00000442594.2_Missense_Mutation_p.R282Q			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TCTAACGCTTCGTAAAACTAA	0.363000													39	51					0	0	1	0	0
RPA4	29935	broad.mit.edu	37	X	96139474	96139474	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chrX:96139474C>T	ENST00000373040.3	+	1	568	c.165C>T	c.(163-165)ctC>ctT	p.L55L	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	55					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						ACCAGCTTCTCAGCTCTACTG	0.483000								Other identified genes with known or suspected DNA repair function					19	33					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72756889	72756889	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr7:72756889G>A	ENST00000252037.4	+	8	1045	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	FKBP6_ENST00000413573.2_Missense_Mutation_p.E296K|FKBP6_ENST00000431982.2_Missense_Mutation_p.E321K	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	326					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TACAGCAGGAGAAAGTTGAAG	0.542000											OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	38					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089142	113089142	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:113089142G>C	ENST00000409871.1	+	12	3048	c.2647G>C	c.(2647-2649)Gac>Cac	p.D883H	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D883H	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	883							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GGCTCCCGAAGACTTACTTCC	0.428000													6	22					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33361058	33361058	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr11:33361058C>G	ENST00000303296.4	+	6	1896	c.1591C>G	c.(1591-1593)Cta>Gta	p.L531V	HIPK3_ENST00000525975.1_Missense_Mutation_p.L531V|HIPK3_ENST00000456517.1_Missense_Mutation_p.L531V|HIPK3_ENST00000379016.3_Missense_Mutation_p.L531V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	531					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAAACATCTTCTAGATTTCCC	0.323000													21	97					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449707	138449707	+	Silent	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr4:138449707G>T	ENST00000344876.4	-	3	3051	c.2665C>A	c.(2665-2667)Cga>Aga	p.R889R	PCDH18_ENST00000510305.1_Silent_p.R100R|PCDH18_ENST00000507846.1_Silent_p.R668R|PCDH18_ENST00000511115.1_Silent_p.R69R|PCDH18_ENST00000412923.2_Silent_p.R888R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	889					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGAGAATCTCGCCCCAAATCA	0.448000													25	130					6.12954e-19	6.80286e-19	1	1	0
TM7SF2	7108	broad.mit.edu	37	11	64882295	64882295	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr11:64882295C>T	ENST00000279263.7	+	6	876	c.714C>T	c.(712-714)ctC>ctT	p.L238L	TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000540748.1_Silent_p.L122L|TM7SF2_ENST00000345348.5_Silent_p.L238L	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	238					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGATGCCCTCTGGCACGAGG	0.617000													16	57					0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220038920	220038920	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:220038920G>C	ENST00000409789.1	-	7	947	c.520C>G	c.(520-522)Ctc>Gtc	p.L174V	CNPPD1_ENST00000360507.5_Missense_Mutation_p.L174V			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	174					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TCAGTGTAGAGATGCCAATCC	0.517000													21	46					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133729477	133729477	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr9:133729477G>A	ENST00000318560.5	+	2	487	c.106G>A	c.(106-108)Gac>Aac	p.D36N		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	36	CAP.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGTAGCATCTGACTTTGAGCC	0.463000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								27	97					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36475371	36475371	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr6:36475371C>T	ENST00000229812.7	-	8	963	c.678G>A	c.(676-678)gtG>gtA	p.V226V		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	226	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAAAGTTTCACATGGCCCT	0.423000													33	137					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79848567	79848567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:79848567G>A	ENST00000331204.4	-	2	393	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	ALYREF_ENST00000505490.2_Nonsense_Mutation_p.Q130*|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	123	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										TCTCTTACCTGAATATCGGCG	0.587000													14	46					0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	685883	685883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:685883G>T	ENST00000304478.4	+	1	371	c.265G>T	c.(265-267)Gag>Tag	p.E89*		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	89					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CACCTGGGAAGAGTCTGGGCT	0.602000													4	17					0.00909568	0.00918977	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													7	101					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578689	58578689	+	Silent	SNP	C	C	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:58578689C>T	ENST00000506786.1	+	5	1265	c.711C>T	c.(709-711)ttC>ttT	p.F237F	ZNF135_ENST00000359978.6_Silent_p.F291F|ZNF135_ENST00000439855.2_Silent_p.F279F|ZNF135_ENST00000511556.1_Silent_p.F291F|ZNF135_ENST00000313434.5_Silent_p.F279F|ZNF135_ENST00000401053.4_Silent_p.F303F			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	291					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGAGGACCTTCAACCAAATTG	0.488000													13	65					0	0	1	0	0
C3orf70	285382	broad.mit.edu	37	3	184801255	184801255	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:184801255G>A	ENST00000335012.2	-	2	483	c.293C>T	c.(292-294)tCa>tTa	p.S98L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	98										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GAGCGAGACTGAGATCTGAAT	0.488000													14	59					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237969493	237969494	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr1:237969493_237969494insT	ENST00000366574.2	+	99	14525_14526	c.14208_14209insT	c.(14209-14211)tttfs	p.F4737fs	RYR2_ENST00000542537.1_Frame_Shift_Ins_p.F4721fs|RYR2_ENST00000360064.6_Frame_Shift_Ins_p.F4743fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4737					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTATAACAACTTTTTTTTTGC	0.401													10	27	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	RNA	INS	-	-	A	rs71401156		TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr2:217475031_217475032insA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376													3	3	---	---	---	---					
IL17RD	54756	broad.mit.edu	37	3	57132165	57132165	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr3:57132165delC	ENST00000296318.7	-	12	1654	c.1566delG	c.(1564-1566)gggfs	p.G522fs	IL17RD_ENST00000320057.5_Frame_Shift_Del_p.G378fs|IL17RD_ENST00000427856.2_Frame_Shift_Del_p.G498fs|IL17RD_ENST00000463523.1_Frame_Shift_Del_p.G378fs	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	522						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GCGTGTGCTGCCCCGGCTCCT	0.572													7	36	---	---	---	---					
KIF13B	23303	broad.mit.edu	37	8	28929681	28929681	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:28929681delG	ENST00000524189.1	-	39	4712	c.4674delC	c.(4672-4674)cccfs	p.P1558fs	KIF13B_ENST00000404075.3_Frame_Shift_Del_p.P77fs	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1558					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCAGGGGGCTGGGGGGCCCGT	0.692													2	4	---	---	---	---					
RAD21	5885	broad.mit.edu	37	8	117862883	117862883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr8:117862883delC	ENST00000297338.2	-	12	1881	c.1594delG	c.(1594-1596)gaafs	p.E532fs	RAD21_ENST00000518055.1_Frame_Shift_Del_p.E77fs|RAD21_ENST00000523986.1_Frame_Shift_Del_p.E36fs	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	532					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCTtctttttccttctctttc	0.373													39	65	---	---	---	---					
OR4A47	403253	broad.mit.edu	37	11	48510784	48510784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr11:48510784delG	ENST00000446524.1	+	1	516	c.440delG	c.(439-441)tggfs	p.W147fs		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147F(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTAGTGTCCTGGGTTGGAGGA	0.438													18	59	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48881511	48881511	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr13:48881511delG	ENST00000267163.4	+	2	371	c.233delG	c.(232-234)tggfs	p.W78fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	78					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGTTAACTTGGGAGAAAGTT	0.328		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			17	68	---	---	---	---					
PIGB	9488	broad.mit.edu	37	15	55631503	55631503	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr15:55631503delT	ENST00000164305.5	+	7	1124	c.833delT	c.(832-834)attfs	p.I278fs	PIGB_ENST00000539642.1_Frame_Shift_Del_p.I83fs	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	278					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATTGATCGTATTTTTTTTGGC	0.284													2	4	---	---	---	---					
SLC43A2	124935	broad.mit.edu	37	17	1494615	1494616	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr17:1494615_1494616insGT	ENST00000301335.5	-	8	966_967	c.878_879insAC	c.(877-879)aagfs	p.K293fs	SLC43A2_ENST00000412517.3_Frame_Shift_Ins_p.K156fs|SLC43A2_ENST00000571650.1_Frame_Shift_Ins_p.K293fs|SLC43A2_ENST00000382147.4_Frame_Shift_Ins_p.K293fs|SLC43A2_ENST00000574274.1_5'UTR	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		ACAGGCACAGCTTGTGGCCCTC	0.673													21	63	---	---	---	---					
POLD1	5424	broad.mit.edu	37	19	50902178	50902180	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chr19:50902178_50902180delGAT	ENST00000440232.2	+	2	123_125	c.70_72delGAT	c.(70-72)gatdel	p.D27del	POLD1_ENST00000595904.1_In_Frame_Del_p.D27del|POLD1_ENST00000599857.1_In_Frame_Del_p.D27del	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	27					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGCCTCTGGGATGATGATGATG	0.660								DNA polymerases (catalytic subunits)					2	4	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			4	5	---	---	---	---					
TRPC5	7224	broad.mit.edu	37	X	111019567	111019567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4Z-AA81-01A-11D-A391-08	TCGA-4Z-AA81-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08005e15-eadd-4b8c-8757-668c4347719f	d8206463-2a1f-4d8e-bca6-ce512f54b403	g.chrX:111019567delC	ENST00000262839.2	-	11	3814	c.2896delG	c.(2896-2898)gaafs	p.E967fs		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	967					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACTTGTTCTTCCTGTCCATCA	0.433													50	22	---	---	---	---